Mutagenetix > Incidental Mutation

Incidental Mutation 'R4983:Kmt2c'

385715

Institutional Source

Beutler Lab

Gene Symbol

Kmt2c

Ensembl Gene

ENSMUSG00000038056

Gene Name

lysine (K)-specific methyltransferase 2C

Synonyms

Mll3, E330008K23Rik, HALR

MMRRC Submission

042577-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4983 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

25271798-25498783 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 25295511 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 436 (R436W)

Ref Sequence

ENSEMBL: ENSMUSP00000133482 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045291] [ENSMUST00000174734]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000045291
AA Change: R3847W

PolyPhen 2 Score 0.234 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000043874
Gene: ENSMUSG00000038056
AA Change: R3847W

Domain	Start	End	E-Value	Type
low complexity region	9	32	N/A	INTRINSIC
AT_hook	34	46	9.68e-1	SMART
low complexity region	73	87	N/A	INTRINSIC
PHD	283	330	2.56e-2	SMART
C1	329	384	5.45e-1	SMART
PHD	342	388	4.19e-7	SMART
RING	343	387	1.45e-1	SMART
PHD	389	435	4.77e-11	SMART
RING	390	434	1.46e0	SMART
PHD	465	517	8.25e-6	SMART
low complexity region	776	789	N/A	INTRINSIC
AT_hook	898	910	1.41e2	SMART
PHD	953	1002	2.89e-10	SMART
RING	954	1001	4.74e0	SMART
C1	994	1045	8.38e-2	SMART
PHD	1003	1049	1.05e-12	SMART
PHD	1080	1131	2.08e-2	SMART
low complexity region	1189	1201	N/A	INTRINSIC
low complexity region	1337	1348	N/A	INTRINSIC
low complexity region	1394	1406	N/A	INTRINSIC
low complexity region	1431	1442	N/A	INTRINSIC
low complexity region	1520	1539	N/A	INTRINSIC
low complexity region	1557	1570	N/A	INTRINSIC
HMG	1639	1703	2.64e-3	SMART
low complexity region	1708	1724	N/A	INTRINSIC
coiled coil region	1745	1789	N/A	INTRINSIC
low complexity region	1847	1860	N/A	INTRINSIC
low complexity region	1864	1891	N/A	INTRINSIC
internal_repeat_3	1893	2084	1.27e-14	PROSPERO
internal_repeat_3	2123	2306	1.27e-14	PROSPERO
low complexity region	2336	2348	N/A	INTRINSIC
low complexity region	2375	2394	N/A	INTRINSIC
low complexity region	2427	2440	N/A	INTRINSIC
low complexity region	2516	2527	N/A	INTRINSIC
low complexity region	2696	2720	N/A	INTRINSIC
low complexity region	2723	2742	N/A	INTRINSIC
low complexity region	2930	2943	N/A	INTRINSIC
coiled coil region	3048	3075	N/A	INTRINSIC
low complexity region	3156	3165	N/A	INTRINSIC
low complexity region	3173	3195	N/A	INTRINSIC
coiled coil region	3226	3270	N/A	INTRINSIC
low complexity region	3277	3290	N/A	INTRINSIC
coiled coil region	3389	3427	N/A	INTRINSIC
low complexity region	3460	3486	N/A	INTRINSIC
low complexity region	3597	3611	N/A	INTRINSIC
low complexity region	3649	3667	N/A	INTRINSIC
low complexity region	3769	3783	N/A	INTRINSIC
low complexity region	3822	3827	N/A	INTRINSIC
low complexity region	3860	3869	N/A	INTRINSIC
low complexity region	3887	3904	N/A	INTRINSIC
low complexity region	3994	4009	N/A	INTRINSIC
low complexity region	4015	4038	N/A	INTRINSIC
low complexity region	4293	4309	N/A	INTRINSIC
low complexity region	4412	4419	N/A	INTRINSIC
PHD	4454	4500	2.94e-2	SMART
RING	4455	4499	8.1e0	SMART
FYRN	4554	4597	1.18e-21	SMART
FYRC	4603	4690	4.54e-32	SMART
SET	4764	4886	3.17e-34	SMART
PostSET	4888	4904	1.82e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000172556

SMART Domains

Protein: ENSMUSP00000133941
Gene: ENSMUSG00000038056

Domain	Start	End	E-Value	Type
SCOP:d2spca_	84	177	1e-3	SMART
low complexity region	196	209	N/A	INTRINSIC
coiled coil region	307	345	N/A	INTRINSIC
low complexity region	379	405	N/A	INTRINSIC
low complexity region	516	530	N/A	INTRINSIC
low complexity region	568	586	N/A	INTRINSIC
low complexity region	688	702	N/A	INTRINSIC
low complexity region	735	752	N/A	INTRINSIC
low complexity region	842	857	N/A	INTRINSIC
low complexity region	863	886	N/A	INTRINSIC
low complexity region	1141	1157	N/A	INTRINSIC
low complexity region	1260	1267	N/A	INTRINSIC
PHD	1302	1348	2.94e-2	SMART
FYRN	1402	1445	1.18e-21	SMART
FYRC	1451	1538	4.54e-32	SMART
SET	1608	1730	3.17e-34	SMART
PostSET	1732	1748	1.82e-6	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173673

Predicted Effect

possibly damaging
Transcript: ENSMUST00000174734
AA Change: R436W

PolyPhen 2 Score 0.514 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000133482
Gene: ENSMUSG00000038056
AA Change: R436W

Domain	Start	End	E-Value	Type
low complexity region	49	75	N/A	INTRINSIC
low complexity region	186	200	N/A	INTRINSIC
low complexity region	238	256	N/A	INTRINSIC
low complexity region	358	372	N/A	INTRINSIC
low complexity region	411	416	N/A	INTRINSIC
low complexity region	449	458	N/A	INTRINSIC
low complexity region	614	629	N/A	INTRINSIC
low complexity region	635	658	N/A	INTRINSIC
low complexity region	913	929	N/A	INTRINSIC
low complexity region	1032	1039	N/A	INTRINSIC
PHD	1074	1120	2.94e-2	SMART
FYRN	1174	1217	1.18e-21	SMART
FYRC	1223	1310	4.54e-32	SMART
SET	1384	1506	3.17e-34	SMART
PostSET	1508	1524	1.82e-6	SMART

Meta Mutation Damage Score

0.0935

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.0%

Validation Efficiency

97% (103/106)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the myeloid/lymphoid or mixed-lineage leukemia (MLL) family and encodes a nuclear protein with an AT hook DNA-binding domain, a DHHC-type zinc finger, six PHD-type zinc fingers, a SET domain, a post-SET domain and a RING-type zinc finger. This protein is a member of the ASC-2/NCOA6 complex (ASCOM), which possesses histone methylation activity and is involved in transcriptional coactivation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele display partial embryonic lethality, delayed eyelid opening, postnatal growth retardation, impaired fertility in both sexes, and decreased proliferation of cultured mouse embryonic fibroblasts. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933411K16Rik	T	G	19: 42,053,076	S215R	possibly damaging	Het
9130011E15Rik	T	C	19: 45,950,707	T335A	probably benign	Het
Abcc9	T	C	6: 142,682,141	M388V	probably benign	Het
Acbd6	A	C	1: 155,601,529	T154P	probably benign	Het
Ago1	T	C	4: 126,453,654	D434G	probably damaging	Het
Ankib1	A	T	5: 3,769,652	M89K	probably benign	Het
Arap2	A	T	5: 62,676,525	H866Q	probably damaging	Het
BC017158	C	T	7: 128,276,473		probably benign	Het
Capn12	A	T	7: 28,890,370	H622L	probably benign	Het
Capns2	T	G	8: 92,901,902	F140V	probably damaging	Het
Catsper1	T	G	19: 5,335,963	F75V	probably benign	Het
Ccdc24	T	C	4: 117,872,100	N16S	probably benign	Het
Cdkn2aip	A	T	8: 47,712,929	L114Q	probably damaging	Het
Cenpe	T	A	3: 135,234,928	S649R	probably damaging	Het
Chgb	A	T	2: 132,793,682	R515W	probably damaging	Het
Chrnb1	A	G	11: 69,793,978	F123S	probably damaging	Het
Copz2	A	T	11: 96,857,551		probably null	Het
Cspp1	T	A	1: 10,126,463	N900K	probably damaging	Het
Daw1	C	A	1: 83,187,998	A178E	probably benign	Het
Dnase1l1	C	T	X: 74,277,038		probably null	Homo
Epb41l5	T	C	1: 119,555,071	D629G	probably benign	Het
Erap1	A	G	13: 74,690,710	E925G	probably benign	Het
Exoc7	A	C	11: 116,289,269	F657V	probably damaging	Het
Fam210b	G	C	2: 172,345,665	A2P	probably damaging	Homo
Fry	A	G	5: 150,398,254	E1018G	probably damaging	Het
Galc	A	T	12: 98,242,768	L15*	probably null	Het
Gm11232	T	A	4: 71,756,901	K121N	possibly damaging	Het
Gm17677	T	G	9: 35,742,169	F90V	probably benign	Het
Hectd1	A	T	12: 51,784,262	D931E	probably benign	Het
Hecw2	T	C	1: 53,832,671	H1372R	probably benign	Het
Ighv3-2	T	A	12: 114,033,986		noncoding transcript	Het
Kcns2	T	G	15: 34,839,605	S371R	probably damaging	Het
Kif23	T	C	9: 61,936,703	K175E	probably benign	Het
Lama5	A	G	2: 180,193,449	S1317P	probably benign	Het
Lce1e	T	C	3: 92,707,828	S71G	unknown	Het
Lrrc37a	T	A	11: 103,497,618	E2327V	unknown	Het
Map3k20	A	G	2: 72,402,067	M356V	probably benign	Het
Med12l	C	T	3: 59,261,929	A1580V	probably damaging	Het
Metap2	G	T	10: 93,889,600	T30K	possibly damaging	Het
Mysm1	T	A	4: 94,972,970	T53S	probably benign	Het
Nasp	A	T	4: 116,602,185	D717E	probably damaging	Het
Ndnf	G	A	6: 65,703,571	R278H	possibly damaging	Het
Neb	A	T	2: 52,216,261	N4205K	probably damaging	Het
Nebl	A	T	2: 17,375,271	I764N	possibly damaging	Het
Nucb1	A	G	7: 45,498,889	Y131H	probably damaging	Het
Olfr1157	G	T	2: 87,962,698	H65N	probably benign	Het
Olfr292	A	C	7: 86,694,479	T8P	probably benign	Het
Olfr381	A	G	11: 73,486,797	I9T	probably benign	Het
Oscp1	T	A	4: 126,076,762	C115S	probably benign	Het
Paip2	C	T	18: 35,613,359	R59C	possibly damaging	Het
Pcdhga4	G	A	18: 37,686,519	D374N	probably damaging	Het
Pcolce	G	T	5: 137,605,674		probably benign	Het
Pcyox1l	T	C	18: 61,699,397	E193G	probably damaging	Het
Pde6b	A	T	5: 108,425,330	Q522L	probably benign	Het
Peg10	T	TCCG	6: 4,756,451		probably benign	Het
Phf11a	A	G	14: 59,284,438	F95L	probably benign	Het
Pja2	A	C	17: 64,309,058	S281A	probably benign	Het
Plekhm2	A	G	4: 141,634,376	F272S	probably damaging	Het
Pom121l2	T	C	13: 21,983,814	S752P	probably benign	Het
Ppl	T	C	16: 5,088,718	T1238A	possibly damaging	Het
Prmt7	A	G	8: 106,250,363	Y569C	probably damaging	Het
Prss37	G	A	6: 40,516,136	T132I	probably benign	Het
Psmf1	A	T	2: 151,729,457		probably benign	Het
Ptprj	A	C	2: 90,460,532	I528S	probably damaging	Het
Reg1	A	G	6: 78,428,213	T140A	possibly damaging	Het
Rtn4	A	G	11: 29,707,217	N457S	probably benign	Het
Scn9a	T	C	2: 66,566,270	K93R	probably benign	Het
Sec16a	A	G	2: 26,439,519	V828A	probably benign	Het
Sec23b	T	A	2: 144,581,953	D507E	probably benign	Het
Sirt4	A	T	5: 115,482,791	F107L	probably benign	Het
Slc14a2	A	T	18: 78,150,401	L862Q	probably damaging	Het
Slc16a4	T	C	3: 107,300,860	S229P	probably benign	Het
Slc37a3	A	T	6: 39,352,717	C185*	probably null	Het
Slc5a2	A	T	7: 128,271,810	*154C	probably null	Het
Snx17	A	G	5: 31,195,794	S42G	possibly damaging	Het
Tgm6	T	C	2: 130,141,193	V234A	probably damaging	Het
Thbs4	A	G	13: 92,790,699	M94T	probably benign	Het
Thtpa	A	G	14: 55,072,148		probably benign	Het
Tie1	T	C	4: 118,483,755	E343G	probably damaging	Het
Tmem145	A	G	7: 25,308,602	I238V	probably benign	Het
Tmprss11f	T	C	5: 86,537,999	S170G	probably benign	Het
Tnk2	T	A	16: 32,680,465	D865E	probably damaging	Het
Ttll8	T	C	15: 88,925,582	E337G	probably benign	Het
Ttn	G	A	2: 76,867,446		probably benign	Het
Tubgcp6	T	C	15: 89,106,291	E710G	probably damaging	Het
Txndc2	T	A	17: 65,638,060	H374L	probably benign	Het
Unc80	G	T	1: 66,674,732		probably null	Het
Vmn2r23	G	A	6: 123,733,349	C537Y	probably damaging	Het
Vmn2r45	A	G	7: 8,483,117	F391L	probably damaging	Het
Vstm4	A	T	14: 32,919,245	T262S	probably benign	Het
Zfp180	C	T	7: 24,106,078	R641C	probably damaging	Het
Zfp979	A	T	4: 147,613,914	S113T	possibly damaging	Het
Zswim4	C	T	8: 84,226,667		probably null	Het
Zswim5	T	A	4: 116,985,686	M876K	possibly damaging	Het

Other mutations in Kmt2c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00436:Kmt2c	APN	5	25281261	missense	probably damaging	0.99
IGL00694:Kmt2c	APN	5	25293161	missense	probably damaging	0.99
IGL00780:Kmt2c	APN	5	25311051	missense	probably benign	0.00
IGL00811:Kmt2c	APN	5	25374533	missense	possibly damaging	0.75
IGL00885:Kmt2c	APN	5	25409171	missense	possibly damaging	0.80
IGL00948:Kmt2c	APN	5	25377161	missense	probably benign	0.08
IGL00959:Kmt2c	APN	5	25276229	missense	probably damaging	1.00
IGL01022:Kmt2c	APN	5	25302701	unclassified	probably benign
IGL01146:Kmt2c	APN	5	25308512	missense	probably damaging	0.96
IGL01154:Kmt2c	APN	5	25284399	missense	probably damaging	1.00
IGL01434:Kmt2c	APN	5	25409308	missense	probably damaging	1.00
IGL01464:Kmt2c	APN	5	25352244	missense	possibly damaging	0.90
IGL01525:Kmt2c	APN	5	25329441	splice site	probably benign
IGL01530:Kmt2c	APN	5	25313500	missense	probably benign	0.08
IGL01550:Kmt2c	APN	5	25281276	missense	probably damaging	1.00
IGL01598:Kmt2c	APN	5	25273666	makesense	probably null
IGL01598:Kmt2c	APN	5	25354771	missense	probably damaging	1.00
IGL01608:Kmt2c	APN	5	25354811	missense	probably damaging	0.97
IGL01663:Kmt2c	APN	5	25310670	missense	probably damaging	1.00
IGL01707:Kmt2c	APN	5	25300098	missense	probably damaging	1.00
IGL01714:Kmt2c	APN	5	25313400	missense	probably benign
IGL01784:Kmt2c	APN	5	25313526	missense	probably damaging	1.00
IGL01813:Kmt2c	APN	5	25290804	missense	possibly damaging	0.82
IGL01825:Kmt2c	APN	5	25310596	missense	probably damaging	1.00
IGL01834:Kmt2c	APN	5	25395455	missense	probably benign	0.05
IGL02072:Kmt2c	APN	5	25405432	missense	possibly damaging	0.96
IGL02159:Kmt2c	APN	5	25311343	missense	probably benign	0.18
IGL02303:Kmt2c	APN	5	25310157	missense	probably damaging	0.96
IGL02417:Kmt2c	APN	5	25373020	missense	probably benign
IGL02578:Kmt2c	APN	5	25366200	intron	probably benign
IGL02811:Kmt2c	APN	5	25315028	nonsense	probably null
IGL02943:Kmt2c	APN	5	25290823	missense	probably damaging	1.00
IGL03000:Kmt2c	APN	5	25284172	missense	probably damaging	1.00
IGL03040:Kmt2c	APN	5	25310352	missense	probably benign
IGL03076:Kmt2c	APN	5	25299151	nonsense	probably null
IGL03088:Kmt2c	APN	5	25299804	missense	probably damaging	0.99
IGL03131:Kmt2c	APN	5	25315361	missense	probably benign	0.00
FR4304:Kmt2c	UTSW	5	25315766	small insertion	probably benign
FR4976:Kmt2c	UTSW	5	25315763	small insertion	probably benign
PIT4520001:Kmt2c	UTSW	5	25315666	missense	probably benign	0.12
PIT4585001:Kmt2c	UTSW	5	25315106	missense	probably benign	0.21
R0313:Kmt2c	UTSW	5	25344930	missense	probably damaging	1.00
R0374:Kmt2c	UTSW	5	25309708	missense	probably damaging	1.00
R0411:Kmt2c	UTSW	5	25375957	missense	probably damaging	1.00
R0422:Kmt2c	UTSW	5	25315664	missense	probably benign
R0453:Kmt2c	UTSW	5	25354747	missense	probably damaging	1.00
R0616:Kmt2c	UTSW	5	25299252	missense	probably benign
R0619:Kmt2c	UTSW	5	25298916	missense	probably benign	0.21
R0671:Kmt2c	UTSW	5	25404365	missense	probably damaging	1.00
R0736:Kmt2c	UTSW	5	25295434	missense	probably benign
R0745:Kmt2c	UTSW	5	25359698	splice site	probably null
R0760:Kmt2c	UTSW	5	25353317	missense	possibly damaging	0.68
R0784:Kmt2c	UTSW	5	25310895	missense	probably benign	0.00
R0882:Kmt2c	UTSW	5	25295607	missense	possibly damaging	0.90
R0893:Kmt2c	UTSW	5	25351270	splice site	probably benign
R0942:Kmt2c	UTSW	5	25315303	missense	probably benign	0.10
R1110:Kmt2c	UTSW	5	25314362	missense	probably benign	0.01
R1137:Kmt2c	UTSW	5	25310983	missense	possibly damaging	0.80
R1255:Kmt2c	UTSW	5	25351153	missense	probably damaging	1.00
R1300:Kmt2c	UTSW	5	25405454	missense	probably damaging	0.99
R1497:Kmt2c	UTSW	5	25314515	missense	possibly damaging	0.80
R1594:Kmt2c	UTSW	5	25314878	missense	probably benign	0.01
R1611:Kmt2c	UTSW	5	25359311	critical splice donor site	probably null
R1617:Kmt2c	UTSW	5	25375927	missense	probably benign	0.01
R1720:Kmt2c	UTSW	5	25299184	missense	probably benign	0.05
R1723:Kmt2c	UTSW	5	25315005	missense	probably damaging	1.00
R1724:Kmt2c	UTSW	5	25315005	missense	probably damaging	1.00
R1726:Kmt2c	UTSW	5	25315005	missense	probably damaging	1.00
R1736:Kmt2c	UTSW	5	25290527	missense	probably damaging	1.00
R1778:Kmt2c	UTSW	5	25372974	missense	probably benign	0.02
R1809:Kmt2c	UTSW	5	25284192	missense	probably damaging	1.00
R1845:Kmt2c	UTSW	5	25373436	missense	probably benign	0.45
R1895:Kmt2c	UTSW	5	25315154	missense	probably benign	0.34
R1946:Kmt2c	UTSW	5	25315154	missense	probably benign	0.34
R1989:Kmt2c	UTSW	5	25498544	missense	possibly damaging	0.93
R2039:Kmt2c	UTSW	5	25329040	missense	possibly damaging	0.53
R2049:Kmt2c	UTSW	5	25285079	missense	probably damaging	1.00
R2079:Kmt2c	UTSW	5	25352280	missense	possibly damaging	0.82
R2080:Kmt2c	UTSW	5	25354717	missense	probably damaging	1.00
R2107:Kmt2c	UTSW	5	25309824	missense	probably benign	0.01
R2186:Kmt2c	UTSW	5	25287112	missense	probably damaging	1.00
R2395:Kmt2c	UTSW	5	25315152	missense	probably benign
R2983:Kmt2c	UTSW	5	25315757	small deletion	probably benign
R3109:Kmt2c	UTSW	5	25275735	missense	probably damaging	1.00
R3500:Kmt2c	UTSW	5	25299479	missense	probably benign	0.02
R3738:Kmt2c	UTSW	5	25405383	missense	probably benign	0.41
R3809:Kmt2c	UTSW	5	25409138	missense	possibly damaging	0.87
R4088:Kmt2c	UTSW	5	25287713	missense	probably benign
R4107:Kmt2c	UTSW	5	25298920	missense	possibly damaging	0.51
R4212:Kmt2c	UTSW	5	25347359	critical splice donor site	probably null
R4376:Kmt2c	UTSW	5	25315326	missense	probably benign	0.00
R4377:Kmt2c	UTSW	5	25315326	missense	probably benign	0.00
R4383:Kmt2c	UTSW	5	25351062	missense	possibly damaging	0.77
R4435:Kmt2c	UTSW	5	25314877	missense	possibly damaging	0.63
R4456:Kmt2c	UTSW	5	25310212	missense	probably benign
R4461:Kmt2c	UTSW	5	25299876	missense	probably benign	0.00
R4519:Kmt2c	UTSW	5	25363477	missense	probably damaging	1.00
R4550:Kmt2c	UTSW	5	25300174	missense	probably damaging	1.00
R4557:Kmt2c	UTSW	5	25300315	missense	probably damaging	1.00
R4610:Kmt2c	UTSW	5	25354384	missense	probably damaging	1.00
R4671:Kmt2c	UTSW	5	25366177	missense	probably damaging	1.00
R4704:Kmt2c	UTSW	5	25314027	nonsense	probably null
R4781:Kmt2c	UTSW	5	25443825	missense	probably damaging	1.00
R4844:Kmt2c	UTSW	5	25315113	missense	probably benign
R4855:Kmt2c	UTSW	5	25314557	missense	probably benign	0.00
R4919:Kmt2c	UTSW	5	25314395	missense	possibly damaging	0.80
R4971:Kmt2c	UTSW	5	25310872	missense	probably benign	0.00
R5012:Kmt2c	UTSW	5	25299712	nonsense	probably null
R5033:Kmt2c	UTSW	5	25314708	missense	probably benign	0.03
R5093:Kmt2c	UTSW	5	25409207	missense	probably benign	0.17
R5125:Kmt2c	UTSW	5	25284381	missense	probably damaging	0.99
R5231:Kmt2c	UTSW	5	25315473	missense	possibly damaging	0.89
R5254:Kmt2c	UTSW	5	25314594	missense	probably benign	0.01
R5396:Kmt2c	UTSW	5	25294734	splice site	probably null
R5415:Kmt2c	UTSW	5	25314701	missense	probably benign	0.21
R5523:Kmt2c	UTSW	5	25299339	missense	probably benign	0.00
R5554:Kmt2c	UTSW	5	25294610	missense	probably damaging	1.00
R5701:Kmt2c	UTSW	5	25314017	missense	probably benign	0.16
R5762:Kmt2c	UTSW	5	25310457	missense	probably benign	0.01
R5819:Kmt2c	UTSW	5	25409132	critical splice donor site	probably null
R5838:Kmt2c	UTSW	5	25284471	missense	probably damaging	1.00
R5912:Kmt2c	UTSW	5	25347469	missense	possibly damaging	0.80
R5951:Kmt2c	UTSW	5	25330803	missense	probably benign	0.15
R5988:Kmt2c	UTSW	5	25311120	missense	probably benign	0.02
R5999:Kmt2c	UTSW	5	25284205	missense	probably damaging	1.00
R6104:Kmt2c	UTSW	5	25299129	missense	probably benign
R6254:Kmt2c	UTSW	5	25349874	missense	possibly damaging	0.94
R6311:Kmt2c	UTSW	5	25443818	critical splice donor site	probably null
R6329:Kmt2c	UTSW	5	25315602	missense	probably benign	0.01
R6347:Kmt2c	UTSW	5	25310835	missense	possibly damaging	0.54
R6364:Kmt2c	UTSW	5	25309636	missense	probably null	0.99
R6379:Kmt2c	UTSW	5	25359341	missense	probably damaging	1.00
R6588:Kmt2c	UTSW	5	25323789	missense	probably damaging	0.99
R6628:Kmt2c	UTSW	5	25298928	missense	probably benign
R6733:Kmt2c	UTSW	5	25409293	missense	probably damaging	1.00
R6787:Kmt2c	UTSW	5	25275739	splice site	probably null
R6816:Kmt2c	UTSW	5	25405532	splice site	probably null
R6862:Kmt2c	UTSW	5	25310517	missense	probably damaging	1.00
R7150:Kmt2c	UTSW	5	25300362	missense	possibly damaging	0.89
R7220:Kmt2c	UTSW	5	25344925	missense	probably damaging	1.00
R7250:Kmt2c	UTSW	5	25299491	missense	probably damaging	1.00
R7250:Kmt2c	UTSW	5	25309807	missense	probably benign	0.00
R7402:Kmt2c	UTSW	5	25395420	missense	probably damaging	1.00
R7465:Kmt2c	UTSW	5	25302849	missense	probably damaging	1.00
R7467:Kmt2c	UTSW	5	25308532	missense	probably damaging	1.00
R7491:Kmt2c	UTSW	5	25284564	missense	probably damaging	0.99
R7549:Kmt2c	UTSW	5	25414970	missense	possibly damaging	0.95
R7637:Kmt2c	UTSW	5	25315095	missense	probably damaging	1.00
R7652:Kmt2c	UTSW	5	25315719	missense	probably benign	0.01
R7714:Kmt2c	UTSW	5	25375366	missense	probably benign
R7838:Kmt2c	UTSW	5	25294699	missense	possibly damaging	0.57
R7891:Kmt2c	UTSW	5	25300111	missense	probably damaging	1.00
R7892:Kmt2c	UTSW	5	25299816	missense	probably benign	0.18
R7895:Kmt2c	UTSW	5	25373176	missense	possibly damaging	0.65
R7960:Kmt2c	UTSW	5	25315196	missense	probably benign	0.01
R7974:Kmt2c	UTSW	5	25300563	missense	probably damaging	1.00
R7978:Kmt2c	UTSW	5	25359678	missense	probably benign	0.00
R8011:Kmt2c	UTSW	5	25351234	missense	probably damaging	0.99
R8021:Kmt2c	UTSW	5	25287119	missense	possibly damaging	0.88
R8022:Kmt2c	UTSW	5	25281680	missense	possibly damaging	0.83
R8079:Kmt2c	UTSW	5	25302732	missense	probably damaging	0.98
R8087:Kmt2c	UTSW	5	25329252	missense	probably damaging	1.00
R8109:Kmt2c	UTSW	5	25281384	missense	probably damaging	1.00
R8161:Kmt2c	UTSW	5	25374564	missense	probably benign	0.00
R8169:Kmt2c	UTSW	5	25354687	missense	probably damaging	1.00
R8206:Kmt2c	UTSW	5	25314539	missense	probably damaging	0.98
R8218:Kmt2c	UTSW	5	25283106	missense	probably damaging	1.00
R8223:Kmt2c	UTSW	5	25324218	missense	possibly damaging	0.89
R8260:Kmt2c	UTSW	5	25405516	missense	possibly damaging	0.87
R8330:Kmt2c	UTSW	5	25304694	missense	probably null	1.00
R8355:Kmt2c	UTSW	5	25354501	critical splice acceptor site	probably null
R8455:Kmt2c	UTSW	5	25354501	critical splice acceptor site	probably null
R8508:Kmt2c	UTSW	5	25314122	missense	probably benign	0.34
R8885:Kmt2c	UTSW	5	25315079	missense	probably benign	0.34
R8907:Kmt2c	UTSW	5	25309611	missense	probably damaging	1.00
R8924:Kmt2c	UTSW	5	25298887	missense	probably benign
R8969:Kmt2c	UTSW	5	25314389	missense	possibly damaging	0.82
R9019:Kmt2c	UTSW	5	25283210	missense	probably damaging	1.00
R9035:Kmt2c	UTSW	5	25319012	missense	probably damaging	1.00
R9074:Kmt2c	UTSW	5	25284345	missense	probably damaging	1.00
R9125:Kmt2c	UTSW	5	25284196	missense	possibly damaging	0.86
R9130:Kmt2c	UTSW	5	25311104	missense	probably benign	0.01
R9171:Kmt2c	UTSW	5	25281311	missense	probably damaging	1.00
R9235:Kmt2c	UTSW	5	25299999	missense	probably damaging	1.00
R9288:Kmt2c	UTSW	5	25292909	missense	probably damaging	1.00
R9288:Kmt2c	UTSW	5	25349862	missense	probably benign	0.34
R9336:Kmt2c	UTSW	5	25409167	missense	probably benign	0.06
R9443:Kmt2c	UTSW	5	25310047	missense	probably damaging	1.00
R9481:Kmt2c	UTSW	5	25292909	missense	probably damaging	1.00
R9481:Kmt2c	UTSW	5	25349862	missense	probably benign	0.34
R9526:Kmt2c	UTSW	5	25281357	missense	probably damaging	1.00
R9653:Kmt2c	UTSW	5	25302821	missense	probably damaging	1.00
R9729:Kmt2c	UTSW	5	25284760	missense	probably damaging	1.00
R9731:Kmt2c	UTSW	5	25372958	missense	probably benign	0.18
R9784:Kmt2c	UTSW	5	25344961	missense	probably damaging	1.00
RF001:Kmt2c	UTSW	5	25315775	small insertion	probably benign
RF006:Kmt2c	UTSW	5	25315772	small insertion	probably benign
RF011:Kmt2c	UTSW	5	25338459	missense	probably damaging	1.00
RF041:Kmt2c	UTSW	5	25315775	small insertion	probably benign
RF047:Kmt2c	UTSW	5	25315760	small insertion	probably benign
RF051:Kmt2c	UTSW	5	25313479	unclassified	probably benign
RF055:Kmt2c	UTSW	5	25315772	small insertion	probably benign
RF059:Kmt2c	UTSW	5	25313479	unclassified	probably benign
RF063:Kmt2c	UTSW	5	25315764	small insertion	probably benign
X0024:Kmt2c	UTSW	5	25405485	missense	probably benign	0.26
X0027:Kmt2c	UTSW	5	25330887	missense	possibly damaging	0.90
Z1176:Kmt2c	UTSW	5	25354413	missense	probably damaging	1.00
Z1177:Kmt2c	UTSW	5	25295397	critical splice donor site	probably null
Z1177:Kmt2c	UTSW	5	25300003	missense	probably benign	0.00
Z1177:Kmt2c	UTSW	5	25366197	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- CCTAGGATTGAAAAGGCAACAC -3'
(R):5'- CCCCTTTAAATTGGGATGCCATG -3'

Sequencing Primer
(F):5'- CAACACTTGCTCTCTCCCC -3'
(R):5'- AGTCACAAGTTGGAGCTGGTC -3'

Posted On

2016-05-10