Mutagenetix > Incidental Mutation

Incidental Mutation 'R9224:Setd1b'

699665

Institutional Source

Beutler Lab

Gene Symbol

Setd1b

Ensembl Gene

ENSMUSG00000038384

Gene Name

SET domain containing 1B

Synonyms

KMT2G

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9224 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

123142193-123168629 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 123158710 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 1245 (S1245P)

Ref Sequence

ENSEMBL: ENSMUSP00000134686 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056053] [ENSMUST00000162839] [ENSMUST00000163030] [ENSMUST00000174836]

AlphaFold

Q8CFT2

Predicted Effect

unknown
Transcript: ENSMUST00000056053
AA Change: S1245P

SMART Domains

Protein: ENSMUSP00000134686
Gene: ENSMUSG00000038384
AA Change: S1245P

Domain	Start	End	E-Value	Type
low complexity region	5	17	N/A	INTRINSIC
RRM	103	176	6.41e-13	SMART
low complexity region	229	241	N/A	INTRINSIC
internal_repeat_1	248	266	1.29e-7	PROSPERO
internal_repeat_1	279	296	1.29e-7	PROSPERO
low complexity region	366	381	N/A	INTRINSIC
low complexity region	393	411	N/A	INTRINSIC
low complexity region	422	448	N/A	INTRINSIC
low complexity region	522	535	N/A	INTRINSIC
low complexity region	543	557	N/A	INTRINSIC
low complexity region	565	599	N/A	INTRINSIC
low complexity region	650	746	N/A	INTRINSIC
Blast:SET	749	976	5e-26	BLAST
low complexity region	979	992	N/A	INTRINSIC
coiled coil region	1053	1088	N/A	INTRINSIC
low complexity region	1136	1147	N/A	INTRINSIC
coiled coil region	1190	1213	N/A	INTRINSIC
low complexity region	1249	1262	N/A	INTRINSIC
low complexity region	1281	1292	N/A	INTRINSIC
low complexity region	1322	1383	N/A	INTRINSIC
low complexity region	1402	1442	N/A	INTRINSIC
low complexity region	1484	1548	N/A	INTRINSIC
low complexity region	1600	1618	N/A	INTRINSIC
N-SET	1692	1836	1.54e-67	SMART
SET	1846	1969	4.03e-36	SMART
PostSET	1969	1985	4.8e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000162839

SMART Domains

Protein: ENSMUSP00000134353
Gene: ENSMUSG00000038384

Domain	Start	End	E-Value	Type
SET	1	86	7.26e-2	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000163030
AA Change: S1245P

SMART Domains

Protein: ENSMUSP00000133933
Gene: ENSMUSG00000038384
AA Change: S1245P

Domain	Start	End	E-Value	Type
low complexity region	5	17	N/A	INTRINSIC
RRM	103	176	6.41e-13	SMART
low complexity region	229	241	N/A	INTRINSIC
internal_repeat_1	248	266	1.29e-7	PROSPERO
internal_repeat_1	279	296	1.29e-7	PROSPERO
low complexity region	366	381	N/A	INTRINSIC
low complexity region	393	411	N/A	INTRINSIC
low complexity region	422	448	N/A	INTRINSIC
low complexity region	522	535	N/A	INTRINSIC
low complexity region	543	557	N/A	INTRINSIC
low complexity region	565	599	N/A	INTRINSIC
low complexity region	650	746	N/A	INTRINSIC
Blast:SET	749	976	5e-26	BLAST
low complexity region	979	992	N/A	INTRINSIC
coiled coil region	1053	1088	N/A	INTRINSIC
low complexity region	1136	1147	N/A	INTRINSIC
coiled coil region	1190	1213	N/A	INTRINSIC
low complexity region	1249	1262	N/A	INTRINSIC
low complexity region	1281	1292	N/A	INTRINSIC
low complexity region	1322	1383	N/A	INTRINSIC
low complexity region	1402	1442	N/A	INTRINSIC
low complexity region	1484	1548	N/A	INTRINSIC
low complexity region	1600	1618	N/A	INTRINSIC
N-SET	1692	1836	1.54e-67	SMART
SET	1846	1969	4.03e-36	SMART
PostSET	1969	1985	4.8e-6	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000174836
AA Change: S1204P

SMART Domains

Protein: ENSMUSP00000134461
Gene: ENSMUSG00000038384
AA Change: S1204P

Domain	Start	End	E-Value	Type
low complexity region	5	17	N/A	INTRINSIC
RRM	103	176	6.41e-13	SMART
low complexity region	229	241	N/A	INTRINSIC
internal_repeat_1	248	266	1.92e-7	PROSPERO
internal_repeat_1	279	296	1.92e-7	PROSPERO
low complexity region	366	381	N/A	INTRINSIC
low complexity region	393	411	N/A	INTRINSIC
low complexity region	422	448	N/A	INTRINSIC
low complexity region	522	535	N/A	INTRINSIC
low complexity region	543	557	N/A	INTRINSIC
low complexity region	565	599	N/A	INTRINSIC
low complexity region	650	746	N/A	INTRINSIC
Blast:SET	749	976	5e-26	BLAST
low complexity region	979	992	N/A	INTRINSIC
coiled coil region	1053	1088	N/A	INTRINSIC
coiled coil region	1149	1172	N/A	INTRINSIC
low complexity region	1208	1221	N/A	INTRINSIC
low complexity region	1240	1251	N/A	INTRINSIC
low complexity region	1281	1342	N/A	INTRINSIC
low complexity region	1361	1401	N/A	INTRINSIC
low complexity region	1443	1507	N/A	INTRINSIC
low complexity region	1559	1577	N/A	INTRINSIC
N-SET	1651	1795	1.54e-67	SMART
SET	1805	1928	4.03e-36	SMART
PostSET	1928	1944	4.8e-6	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous mutant animals died during organogenesis by E11.5. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 112 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810055G02Rik	C	T	19: 3,717,100	S229L	possibly damaging	Het
Actc1	TGA	T	2: 114,049,229		probably null	Het
Actl9	G	A	17: 33,434,030	A355T	probably benign	Het
Adamts8	A	G	9: 30,942,892	Q19R	probably benign	Het
Akr1c14	A	T	13: 4,080,695	Y216F	possibly damaging	Het
Alms1	T	C	6: 85,621,788	C1199R	possibly damaging	Het
Apc2	T	C	10: 80,314,277	S1722P	probably damaging	Het
Arid1a	T	C	4: 133,681,856	E1395G	unknown	Het
Atp6v0e2	T	C	6: 48,539,256	V46A	possibly damaging	Het
Bcar3	A	G	3: 122,525,442	R743G	probably damaging	Het
Bhmt2	A	G	13: 93,669,346	V56A	probably damaging	Het
Bsn	C	A	9: 108,105,487	R917L		Het
Cabyr	T	G	18: 12,754,221	V303G	possibly damaging	Het
Carmil1	A	T	13: 24,108,529	I429N	probably damaging	Het
Ccdc27	T	C	4: 154,037,717	N235D	unknown	Het
Ccdc61	T	C	7: 18,903,821	M37V	probably benign	Het
Cd40	A	T	2: 165,056,796	I48F	unknown	Het
Cdk13	A	T	13: 17,766,486	S664R	probably damaging	Het
Cel	TTA	TTATA	2: 28,559,429		probably null	Het
Cfap46	T	A	7: 139,678,500	R286*	probably null	Het
Ckap2	A	C	8: 22,169,938	I509S	possibly damaging	Het
Clptm1l	A	T	13: 73,604,225		probably benign	Het
Col11a1	T	G	3: 114,208,280	M1591R	unknown	Het
Col6a5	C	A	9: 105,937,395	A473S	unknown	Het
Cxcr2	T	A	1: 74,158,597	D83E	probably damaging	Het
Cyp2c39	G	A	19: 39,538,888	C226Y	probably benign	Het
Ddr1	A	C	17: 35,689,717	F352C	probably damaging	Het
Defb22	T	A	2: 152,485,801	T155S	unknown	Het
Dennd4c	G	T	4: 86,819,933	E935*	probably null	Het
Dst	A	C	1: 34,291,798	E4889D	probably damaging	Het
Emilin1	T	A	5: 30,917,479	C355S	probably damaging	Het
Enpp3	C	T	10: 24,774,818	V807I	probably benign	Het
Fcnb	T	A	2: 28,079,148	D179V	probably damaging	Het
Ficd	T	A	5: 113,737,135	D88E	probably benign	Het
Fndc3b	T	C	3: 27,470,301	K437E	possibly damaging	Het
Fyb2	T	A	4: 104,995,908	W566R	probably benign	Het
Gm11639	A	G	11: 104,770,975	Q1314R	probably benign	Het
Gm14403	A	G	2: 177,508,543	Q94R	probably benign	Het
Gm14548	T	C	7: 3,897,235	T123A	probably benign	Het
Gm32687	T	A	10: 81,879,032	I86N	probably benign	Het
Gpam	T	G	19: 55,087,475	D235A	probably damaging	Het
Gstt4	T	C	10: 75,815,212	E192G	probably damaging	Het
H2-Q6	T	G	17: 35,425,333	V97G	probably benign	Het
Hcn1	G	A	13: 117,925,718	G507S	unknown	Het
Hydin	T	C	8: 110,532,884	I2496T	probably benign	Het
Jund	A	G	8: 70,699,215	D53G	probably damaging	Het
Kat6b	T	A	14: 21,669,963	M1461K	probably benign	Het
Lnx1	T	G	5: 74,606,149	K435Q	probably benign	Het
Lpcat1	C	A	13: 73,510,042	L316M	probably damaging	Het
Lrrtm3	ATTTT	ATTTTT	10: 64,089,256		probably null	Het
Ly6c1	T	A	15: 75,044,616	T126S	probably benign	Het
Macf1	A	G	4: 123,432,897	S4938P	probably damaging	Het
Map2k2	T	C	10: 81,118,174	V158A	possibly damaging	Het
Map3k4	A	G	17: 12,238,086	V1323A	probably damaging	Het
Map4k5	A	T	12: 69,892,693	V23E	possibly damaging	Het
Med30	T	G	15: 52,719,443	L92R	probably damaging	Het
Mroh8	C	T	2: 157,221,149	G851S	possibly damaging	Het
Msmb	T	A	14: 32,158,103	C83*	probably null	Het
Mtif2	A	T	11: 29,544,364	R655S	probably benign	Het
Myo10	C	T	15: 25,807,995	S1901L	probably benign	Het
Myom2	A	T	8: 15,128,804	I1279F	possibly damaging	Het
Nat9	T	C	11: 115,184,615	I67V	probably damaging	Het
Ncam1	A	G	9: 49,508,695	S774P	probably damaging	Het
Ndufaf6	T	C	4: 11,062,089	T181A	probably damaging	Het
Nlrp4f	T	A	13: 65,185,015	K110*	probably null	Het
Nlrp9b	T	C	7: 20,019,292	S41P	probably benign	Het
Nlrp9b	A	G	7: 20,023,551	T238A	probably benign	Het
Noxo1	A	T	17: 24,700,331	E342D	probably benign	Het
Nt5dc2	T	C	14: 31,135,708	M55T	probably benign	Het
Olfr1040	T	A	2: 86,145,876	N286I	probably damaging	Het
Olfr342	A	T	2: 36,527,826	Q138L	probably benign	Het
Olfr453	T	C	6: 42,744,970	F311S	probably benign	Het
Olfr466	C	T	13: 65,152,389	T55I	probably damaging	Het
Olfr700	T	C	7: 106,806,282	Y60C	probably damaging	Het
Olfr782	T	A	10: 129,350,581	M6K	probably benign	Het
Olfr800	C	A	10: 129,660,138	L111M	probably damaging	Het
Olfr92	T	C	17: 37,111,875	T36A	possibly damaging	Het
P4ha2	C	T	11: 54,119,137	P240L	possibly damaging	Het
Pcdha11	T	A	18: 37,006,020	L234Q	probably damaging	Het
Pgm3	C	T	9: 86,556,362	A457T	probably benign	Het
Pkp4	T	C	2: 59,314,394	V533A	probably benign	Het
Plac8l1	T	C	18: 42,192,637	T68A	possibly damaging	Het
Pou2f3	A	T	9: 43,139,399	I222N	probably damaging	Het
Ppp1r14d	T	C	2: 119,229,741	D20G	probably benign	Het
Ppp1r37	C	A	7: 19,531,804	G679V	probably damaging	Het
Ppp6r2	T	A	15: 89,262,396	I199N	probably damaging	Het
Prune2	A	G	19: 17,120,029	T966A	probably damaging	Het
Ptdss2	T	C	7: 141,154,885	V375A	probably benign	Het
Rara	TGCCCCGC	TGCCCCGCCCCGC	11: 98,966,410		probably null	Het
Rin2	T	A	2: 145,878,902	C718*	probably null	Het
Rptor	C	T	11: 119,894,287	T1170I	probably benign	Het
Samd5	T	C	10: 9,674,515	Y150C	probably damaging	Het
Sipa1l2	T	C	8: 125,491,977	E207G	probably damaging	Het
Slc29a1	C	A	17: 45,586,227	V378L	probably damaging	Het
Slc2a12	T	G	10: 22,665,362	I372S	possibly damaging	Het
Slc7a10	T	A	7: 35,195,214	Y99*	probably null	Het
Smco3	A	G	6: 136,831,519	V119A	probably damaging	Het
Sptlc3	C	T	2: 139,494,234	T10I	probably benign	Het
Sri	T	A	5: 8,063,323	W105R	probably damaging	Het
Stk35	T	C	2: 129,810,571	Y331H	probably damaging	Het
Tipin	T	C	9: 64,288,148	I12T	probably benign	Het
Tlr5	A	G	1: 182,975,128	T666A	probably benign	Het
Tmprss11g	C	A	5: 86,492,144	V222L	probably benign	Het
Tnfrsf11b	T	A	15: 54,252,160	Y347F	possibly damaging	Het
Traf6	A	G	2: 101,697,167	T421A	probably benign	Het
Trrap	T	A	5: 144,771,239	D30E	possibly damaging	Het
Ube2k	T	A	5: 65,594,504	Y162N	probably damaging	Het
Uck2	A	T	1: 167,237,602	V49E	probably damaging	Het
Vcam1	A	T	3: 116,110,943	Y718*	probably null	Het
Zan	T	C	5: 137,474,007	N159S	probably damaging	Het
Zfp438	A	G	18: 5,210,788	L750P	probably damaging	Het
Zfp54	A	T	17: 21,433,775	Y177F	probably benign	Het

Other mutations in Setd1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00499:Setd1b	APN	5	123158747	unclassified	probably benign
IGL01453:Setd1b	APN	5	123158464	intron	probably benign
IGL01637:Setd1b	APN	5	123148513	missense	unknown
IGL01792:Setd1b	APN	5	123157146	missense	unknown
IGL01877:Setd1b	APN	5	123148448	missense	unknown
IGL01906:Setd1b	APN	5	123157667	missense	unknown
IGL01942:Setd1b	APN	5	123163426	missense	possibly damaging	0.73
IGL02284:Setd1b	APN	5	123163428	missense	possibly damaging	0.52
IGL02667:Setd1b	APN	5	123157497	missense	unknown
IGL02850:Setd1b	APN	5	123148589	missense	unknown
IGL02864:Setd1b	APN	5	123158939	unclassified	probably benign
IGL03006:Setd1b	APN	5	123148451	missense	unknown
IGL03307:Setd1b	APN	5	123148671	missense	unknown
P0037:Setd1b	UTSW	5	123165921	unclassified	probably benign
R0282:Setd1b	UTSW	5	123161017	unclassified	probably benign
R0375:Setd1b	UTSW	5	123157437	missense	unknown
R0550:Setd1b	UTSW	5	123157660	missense	unknown
R0607:Setd1b	UTSW	5	123159951	unclassified	probably benign
R0844:Setd1b	UTSW	5	123160685	unclassified	probably benign
R0973:Setd1b	UTSW	5	123160703	small insertion	probably benign
R1119:Setd1b	UTSW	5	123147716	missense	unknown
R1266:Setd1b	UTSW	5	123147841	missense	unknown
R1370:Setd1b	UTSW	5	123160685	unclassified	probably benign
R1416:Setd1b	UTSW	5	123160685	unclassified	probably benign
R1575:Setd1b	UTSW	5	123163147	splice site	probably benign
R1862:Setd1b	UTSW	5	123147613	missense	unknown
R1987:Setd1b	UTSW	5	123147706	missense	unknown
R4109:Setd1b	UTSW	5	123152074	small deletion	probably benign
R4399:Setd1b	UTSW	5	123161798	unclassified	probably benign
R4445:Setd1b	UTSW	5	123148104	missense	unknown
R4577:Setd1b	UTSW	5	123148616	missense	unknown
R4604:Setd1b	UTSW	5	123152074	small deletion	probably benign
R4647:Setd1b	UTSW	5	123148112	missense	unknown
R4648:Setd1b	UTSW	5	123148112	missense	unknown
R4675:Setd1b	UTSW	5	123160998	unclassified	probably benign
R5044:Setd1b	UTSW	5	123151866	missense	unknown
R5071:Setd1b	UTSW	5	123160914	unclassified	probably benign
R5220:Setd1b	UTSW	5	123143408	missense	unknown
R5933:Setd1b	UTSW	5	123158752	unclassified	probably benign
R6247:Setd1b	UTSW	5	123158398	intron	probably benign
R6446:Setd1b	UTSW	5	123161799	unclassified	probably benign
R6714:Setd1b	UTSW	5	123157591	missense	unknown
R6907:Setd1b	UTSW	5	123163232	unclassified	probably benign
R7328:Setd1b	UTSW	5	123152379	missense	unknown
R7412:Setd1b	UTSW	5	123152576	missense	unknown
R7486:Setd1b	UTSW	5	123163592	missense	probably benign	0.03
R7542:Setd1b	UTSW	5	123148447	missense	unknown
R7555:Setd1b	UTSW	5	123157757	missense	unknown
R7611:Setd1b	UTSW	5	123152594	missense	unknown
R7764:Setd1b	UTSW	5	123146559	missense	unknown
R7770:Setd1b	UTSW	5	123158752	unclassified	probably benign
R7881:Setd1b	UTSW	5	123152273	missense	unknown
R7977:Setd1b	UTSW	5	123147680	missense	unknown
R7987:Setd1b	UTSW	5	123147680	missense	unknown
R8131:Setd1b	UTSW	5	123143380	missense	unknown
R8386:Setd1b	UTSW	5	123144256	missense	unknown
R8845:Setd1b	UTSW	5	123144247	missense	unknown
R8901:Setd1b	UTSW	5	123161051	unclassified	probably benign
R9438:Setd1b	UTSW	5	123147881	missense	unknown
R9643:Setd1b	UTSW	5	123160338	missense	probably damaging	1.00
R9664:Setd1b	UTSW	5	123159983	missense	unknown
Z1177:Setd1b	UTSW	5	123158625	missense	unknown

Predicted Primers

PCR Primer
(F):5'- CTGAGTTTGAATCCAGTTCCGAGTC -3'
(R):5'- TCTGGAGAGAGCAGCATGTC -3'

Sequencing Primer
(F):5'- AATCCAGTTCCGAGTCCGAGTC -3'
(R):5'- AGAGAGCAGCATGTCCCCTTG -3'

Posted On

2022-02-07