Mutagenetix > Incidental Mutation

Incidental Mutation 'R1575:Setd1b'

171084

Institutional Source

Beutler Lab

Gene Symbol

Setd1b

Ensembl Gene

ENSMUSG00000038384

Gene Name

SET domain containing 1B

Synonyms

KMT2G

MMRRC Submission

039613-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R1575 (G1)

Quality Score

134

Status

Validated

Chromosome

Chromosomal Location

123142193-123168629 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 123163147 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000134461 (fasta)

Gene Model

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

AlphaFold

Q8CFT2

Predicted Effect

probably benign
Transcript: ENSMUST00000056053

SMART Domains

Protein: ENSMUSP00000134686
Gene: ENSMUSG00000038384

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

probably benign
Transcript: ENSMUST00000163030

SMART Domains

Protein: ENSMUSP00000133933
Gene: ENSMUSG00000038384

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

noncoding transcript
Transcript: ENSMUST00000173221

Predicted Effect

probably benign
Transcript: ENSMUST00000174836

SMART Domains

Protein: ENSMUSP00000134461
Gene: ENSMUSG00000038384

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181022

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.5%

Validation Efficiency

100% (72/72)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl2	T	A	3: 148,852,762	T437S	probably benign	Het
Akna	A	G	4: 63,379,333	F828S	probably benign	Het
Alg9	G	T	9: 50,775,502	A40S	possibly damaging	Het
Alox8	T	A	11: 69,185,241	H628L	possibly damaging	Het
Aox3	T	C	1: 58,152,554	W422R	probably benign	Het
Atp13a4	T	C	16: 29,409,710	D984G	probably benign	Het
Bcam	T	C	7: 19,760,382	E363G	possibly damaging	Het
Cadps2	C	A	6: 23,429,218	V519F	probably damaging	Het
Calca	A	G	7: 114,635,161	Y18H	probably damaging	Het
Cd70	A	G	17: 57,146,364	I100T	probably damaging	Het
Cdk4	T	A	10: 127,064,651	H95Q	probably damaging	Het
Chchd1	T	A	14: 20,703,342	N11K	probably damaging	Het
Cma2	T	A	14: 55,972,815	N52K	probably damaging	Het
Cyp3a16	A	G	5: 145,436,457	V500A	probably benign	Het
Dicer1	A	G	12: 104,721,969		probably null	Het
Dnajc13	A	G	9: 104,156,838	S2206P	probably benign	Het
Dtl	T	C	1: 191,561,546		probably null	Het
Fam186b	T	C	15: 99,286,971	T24A	probably benign	Het
Fbxw21	A	G	9: 109,161,916	V25A	probably benign	Het
Gins1	T	C	2: 150,912,838	S45P	probably benign	Het
Gtpbp2	T	A	17: 46,165,943	V349D	probably damaging	Het
Hyal5	G	T	6: 24,876,793	D222Y	probably damaging	Het
Itgal	A	G	7: 127,300,888		probably null	Het
Klk14	A	G	7: 43,693,953		probably null	Het
Lama1	T	A	17: 67,810,409	L2518Q	possibly damaging	Het
Lrrc2	G	A	9: 110,979,487	G264D	probably benign	Het
Ltbp4	A	G	7: 27,322,820	S893P	probably damaging	Het
Mast4	G	A	13: 102,739,263	P1107L	probably damaging	Het
Mbd1	T	A	18: 74,275,419		probably null	Het
Naip2	A	T	13: 100,155,021	D1136E	probably benign	Het
Naip2	G	A	13: 100,155,029		probably benign	Het
Ncan	G	A	8: 70,110,198	T470I	probably benign	Het
Npy1r	A	T	8: 66,704,161	I78F	probably damaging	Het
Olfr1491	A	T	19: 13,705,525	M233L	probably benign	Het
Olfr917	G	A	9: 38,665,277	T189M	probably damaging	Het
Palb2	A	T	7: 122,110,838		probably null	Het
Pax3	T	C	1: 78,103,484	T422A	probably benign	Het
Pebp1	A	T	5: 117,286,164	D72E	possibly damaging	Het
Pnliprp1	A	T	19: 58,740,469	T363S	probably benign	Het
Rbm44	G	A	1: 91,156,843		probably null	Het
Rbm47	T	A	5: 66,025,015	Y425F	probably benign	Het
Robo3	G	T	9: 37,429,661	A83E	probably damaging	Het
Rrm1	A	G	7: 102,456,514	Y279C	probably damaging	Het
Rslcan18	A	T	13: 67,108,057		probably benign	Het
Scara5	C	A	14: 65,730,865	Q196K	probably benign	Het
Siah1a	A	G	8: 86,725,241	F205S	probably damaging	Het
Smr2	AT	ATT	5: 88,108,824		probably null	Het
Ssu72	A	G	4: 155,731,357	D86G	probably benign	Het
St7	G	T	6: 17,886,111	K357N	probably damaging	Het
Sv2b	G	A	7: 75,147,677	T323I	probably damaging	Het
Syt1	T	C	10: 108,504,500	N319S	probably benign	Het
Tanc1	T	A	2: 59,791,651	F371L	probably damaging	Het
Tcf20	C	A	15: 82,855,492	G586V	probably benign	Het
Tg	T	C	15: 66,729,685		probably null	Het
Tyk2	A	T	9: 21,115,462	N620K	probably benign	Het
Ube2j1	T	A	4: 33,045,116	S130T	probably benign	Het
Ubr2	G	T	17: 46,932,492	P1696H	probably damaging	Het
Ubr5	A	T	15: 38,040,841	D266E	probably damaging	Het
Vipr2	A	G	12: 116,144,272	T426A	probably benign	Het
Vmn2r104	A	T	17: 20,042,215	W218R	probably damaging	Het
Vmn2r83	T	A	10: 79,479,122	N401K	probably damaging	Het
Vwf	A	G	6: 125,655,251	E82G	unknown	Het
Vwf	T	A	6: 125,663,571	Y2323*	probably null	Het
Wdr76	T	G	2: 121,528,921	V329G	probably damaging	Het
Zan	A	G	5: 137,461,952	C1226R	unknown	Het
Zbtb16	G	T	9: 48,832,272	Q247K	probably damaging	Het
Zfp541	T	C	7: 16,078,715	V431A	possibly damaging	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
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
R9224:Setd1b	UTSW	5	123158710	missense	unknown
R9438:Setd1b	UTSW	5	123147881	missense	unknown
Z1177:Setd1b	UTSW	5	123158625	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GTTCAGAGAAAGTCATGCTGGATCAGAG -3'
(R):5'- TCCCACACTGACCTGGCTGC -3'

Sequencing Primer
(F):5'- accagaagggggcatcag -3'
(R):5'- CCCCGGAGGAGGTCTAGC -3'

Posted On

2014-04-13