Mutagenetix > Incidental Mutation

Incidental Mutation 'R1987:Setd1b'

222641

Institutional Source

Beutler Lab

Gene Symbol

Setd1b

Ensembl Gene

ENSMUSG00000038384

Gene Name

SET domain containing 1B

Synonyms

KMT2G

MMRRC Submission

039999-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1987 (G1)

Quality Score

216

Status

Not validated

Chromosome

Chromosomal Location

123280256-123306692 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 123285769 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 272 (T272S)

Ref Sequence

ENSEMBL: ENSMUSP00000134461 (fasta)

Gene Model

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

AlphaFold

Q8CFT2

Predicted Effect

unknown
Transcript: ENSMUST00000056053
AA Change: T272S

SMART Domains

Protein: ENSMUSP00000134686
Gene: ENSMUSG00000038384
AA Change: T272S

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: ENSMUST00000100731

Predicted Effect

unknown
Transcript: ENSMUST00000163030
AA Change: T272S

SMART Domains

Protein: ENSMUSP00000133933
Gene: ENSMUSG00000038384
AA Change: T272S

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: T272S

SMART Domains

Protein: ENSMUSP00000134461
Gene: ENSMUSG00000038384
AA Change: T272S

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

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.4%
20x: 92.6%

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	A	T	19: 8,992,615 (GRCm39)	D4633V	probably damaging	Het
Akap6	T	C	12: 53,187,578 (GRCm39)	F1664S	possibly damaging	Het
Arhgef28	T	C	13: 98,103,604 (GRCm39)	M803V	probably benign	Het
Bltp1	T	A	3: 37,008,134 (GRCm39)		probably null	Het
Bltp2	A	T	11: 78,158,993 (GRCm39)	Q433L	probably damaging	Het
Ccdc73	T	A	2: 104,761,390 (GRCm39)	L130*	probably null	Het
Ccdc73	A	G	2: 104,829,504 (GRCm39)	E1059G	probably damaging	Het
Ccer2	A	C	7: 28,456,708 (GRCm39)	S151R	possibly damaging	Het
Cep128	T	A	12: 91,197,603 (GRCm39)	H406L	probably benign	Het
Cep135	A	G	5: 76,745,275 (GRCm39)	D229G	probably benign	Het
Cpvl	T	A	6: 53,931,596 (GRCm39)	D103V	probably benign	Het
Crppa	T	A	12: 36,571,995 (GRCm39)	L301Q	probably damaging	Het
Cstdc6	C	A	16: 36,142,194 (GRCm39)	G61C	probably damaging	Het
Disp3	G	A	4: 148,343,210 (GRCm39)	A567V	probably damaging	Het
Dnah5	T	C	15: 28,343,737 (GRCm39)	I2379T	probably damaging	Het
Dnah6	T	C	6: 73,072,027 (GRCm39)	Y2433C	probably damaging	Het
Dock3	A	G	9: 106,985,620 (GRCm39)	I85T	probably benign	Het
Dock9	A	C	14: 121,829,242 (GRCm39)	S1380A	probably benign	Het
Erbin	T	C	13: 104,022,711 (GRCm39)	T43A	probably benign	Het
Fastkd3	T	C	13: 68,733,360 (GRCm39)	V502A	possibly damaging	Het
Fn1	T	C	1: 71,690,784 (GRCm39)	H59R	probably damaging	Het
Fsd2	A	G	7: 81,209,407 (GRCm39)	V145A	possibly damaging	Het
Fzr1	A	G	10: 81,206,153 (GRCm39)	V178A	probably damaging	Het
Gnpnat1	T	C	14: 45,618,455 (GRCm39)	R116G	probably damaging	Het
Grm7	T	A	6: 110,891,472 (GRCm39)	V235E	probably damaging	Het
Hdac4	A	C	1: 91,862,367 (GRCm39)	N1002K	probably damaging	Het
Hey1	C	T	3: 8,729,957 (GRCm39)	A167T	probably benign	Het
Hrnr	A	G	3: 93,239,911 (GRCm39)	N3383S	unknown	Het
Ints2	A	T	11: 86,108,626 (GRCm39)	V907D	probably benign	Het
Jchain	T	A	5: 88,669,326 (GRCm39)	Q109L	probably damaging	Het
Klhdc7a	A	T	4: 139,693,335 (GRCm39)	Y537*	probably null	Het
Klra1	C	T	6: 130,354,742 (GRCm39)	S92N	probably benign	Het
Krt31	C	T	11: 99,940,406 (GRCm39)	G150S	probably benign	Het
Lrrc71	G	A	3: 87,649,950 (GRCm39)	T326M	probably benign	Het
Lrrn4	T	C	2: 132,712,363 (GRCm39)	T487A	probably benign	Het
Map4k5	T	G	12: 69,889,686 (GRCm39)	R198S	probably damaging	Het
Men1	G	A	19: 6,388,867 (GRCm39)	C354Y	probably damaging	Het
Ms4a18	A	T	19: 10,991,019 (GRCm39)	V25E	probably damaging	Het
Mutyh	T	A	4: 116,676,565 (GRCm39)	S512R	possibly damaging	Het
Myh10	G	T	11: 68,705,322 (GRCm39)	A1947S	possibly damaging	Het
Nfasc	T	C	1: 132,538,624 (GRCm39)	D427G	probably damaging	Het
Nlrp9c	A	G	7: 26,077,481 (GRCm39)	M767T	probably benign	Het
Nrbp1	T	C	5: 31,402,735 (GRCm39)	L185P	probably damaging	Het
Pcdh9	G	A	14: 94,125,741 (GRCm39)	P143L	probably damaging	Het
Pcsk6	A	T	7: 65,577,035 (GRCm39)	M158L	possibly damaging	Het
Pkd1	G	T	17: 24,795,566 (GRCm39)		probably null	Het
Plk4	A	T	3: 40,760,252 (GRCm39)	S383C	possibly damaging	Het
Plxna2	T	C	1: 194,326,297 (GRCm39)	L77P	probably damaging	Het
Pnpla6	A	T	8: 3,592,370 (GRCm39)	T1209S	probably benign	Het
Prdm2	A	G	4: 142,859,079 (GRCm39)	S1404P	possibly damaging	Het
Preb	T	C	5: 31,116,157 (GRCm39)	D150G	probably damaging	Het
Prrt2	A	G	7: 126,617,902 (GRCm39)	V59A	probably benign	Het
Prss40	T	C	1: 34,597,095 (GRCm39)	N151S	possibly damaging	Het
Ptprt	G	T	2: 161,400,818 (GRCm39)	A1053D	probably damaging	Het
Ptprt	A	G	2: 161,608,241 (GRCm39)	V685A	possibly damaging	Het
Rfx4	C	T	10: 84,731,952 (GRCm39)	S549F	possibly damaging	Het
Rnaset2b	T	A	17: 7,263,876 (GRCm39)	V87E	probably benign	Het
Rnf213	G	A	11: 119,331,933 (GRCm39)	E2381K	probably damaging	Het
Sectm1a	A	T	11: 120,960,506 (GRCm39)	I103N	probably damaging	Het
Selp	T	A	1: 163,970,327 (GRCm39)	L597Q	probably damaging	Het
Sema6a	T	C	18: 47,433,209 (GRCm39)	D74G	probably damaging	Het
Serpinb9b	T	C	13: 33,213,542 (GRCm39)	V33A	probably benign	Het
Sgf29	G	C	7: 126,248,649 (GRCm39)		probably null	Het
Slc4a10	C	A	2: 62,098,548 (GRCm39)	Q561K	probably damaging	Het
Slc4a5	T	C	6: 83,250,214 (GRCm39)	I649T	possibly damaging	Het
Slc5a7	A	G	17: 54,600,863 (GRCm39)	Y91H	probably damaging	Het
Styxl1	T	C	5: 135,785,976 (GRCm39)	Y23C	probably damaging	Het
Tbc1d24	A	G	17: 24,425,846 (GRCm39)	V490A	possibly damaging	Het
Tbpl2	A	T	2: 23,984,744 (GRCm39)	F133L	probably benign	Het
Tnfrsf22	T	C	7: 143,192,126 (GRCm39)		probably benign	Het
Top2b	A	G	14: 16,398,916 (GRCm38)	E512G	probably damaging	Het
Trgc3	C	A	13: 19,445,164 (GRCm39)	F37L	probably damaging	Het
Ttc17	T	A	2: 94,194,690 (GRCm39)	H561L	probably benign	Het
Ttll4	G	T	1: 74,724,527 (GRCm39)	V566L	possibly damaging	Het
Ubqlnl	A	G	7: 103,797,692 (GRCm39)	Y602H	probably benign	Het
Vmn1r231	T	A	17: 21,110,212 (GRCm39)	E234D	probably damaging	Het
Wbp11	A	G	6: 136,797,583 (GRCm39)	S279P	probably damaging	Het
Wdr6	A	G	9: 108,453,733 (GRCm39)	L50P	probably damaging	Het
Zfp715	A	C	7: 42,948,073 (GRCm39)	I629S	possibly damaging	Het

Other mutations in Setd1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00499:Setd1b	APN	5	123,296,810 (GRCm39)	unclassified	probably benign
IGL01453:Setd1b	APN	5	123,296,527 (GRCm39)	intron	probably benign
IGL01637:Setd1b	APN	5	123,286,576 (GRCm39)	missense	unknown
IGL01792:Setd1b	APN	5	123,295,209 (GRCm39)	missense	unknown
IGL01877:Setd1b	APN	5	123,286,511 (GRCm39)	missense	unknown
IGL01906:Setd1b	APN	5	123,295,730 (GRCm39)	missense	unknown
IGL01942:Setd1b	APN	5	123,301,489 (GRCm39)	missense	possibly damaging	0.73
IGL02284:Setd1b	APN	5	123,301,491 (GRCm39)	missense	possibly damaging	0.52
IGL02667:Setd1b	APN	5	123,295,560 (GRCm39)	missense	unknown
IGL02850:Setd1b	APN	5	123,286,652 (GRCm39)	missense	unknown
IGL02864:Setd1b	APN	5	123,297,002 (GRCm39)	unclassified	probably benign
IGL03006:Setd1b	APN	5	123,286,514 (GRCm39)	missense	unknown
IGL03307:Setd1b	APN	5	123,286,734 (GRCm39)	missense	unknown
P0037:Setd1b	UTSW	5	123,303,984 (GRCm39)	unclassified	probably benign
R0282:Setd1b	UTSW	5	123,299,080 (GRCm39)	unclassified	probably benign
R0375:Setd1b	UTSW	5	123,295,500 (GRCm39)	missense	unknown
R0550:Setd1b	UTSW	5	123,295,723 (GRCm39)	missense	unknown
R0607:Setd1b	UTSW	5	123,298,014 (GRCm39)	unclassified	probably benign
R0844:Setd1b	UTSW	5	123,298,748 (GRCm39)	unclassified	probably benign
R0973:Setd1b	UTSW	5	123,298,766 (GRCm39)	small insertion	probably benign
R1119:Setd1b	UTSW	5	123,285,779 (GRCm39)	missense	unknown
R1266:Setd1b	UTSW	5	123,285,904 (GRCm39)	missense	unknown
R1370:Setd1b	UTSW	5	123,298,748 (GRCm39)	unclassified	probably benign
R1416:Setd1b	UTSW	5	123,298,748 (GRCm39)	unclassified	probably benign
R1575:Setd1b	UTSW	5	123,301,210 (GRCm39)	splice site	probably benign
R1862:Setd1b	UTSW	5	123,285,676 (GRCm39)	missense	unknown
R4109:Setd1b	UTSW	5	123,290,137 (GRCm39)	small deletion	probably benign
R4399:Setd1b	UTSW	5	123,299,861 (GRCm39)	unclassified	probably benign
R4445:Setd1b	UTSW	5	123,286,167 (GRCm39)	missense	unknown
R4577:Setd1b	UTSW	5	123,286,679 (GRCm39)	missense	unknown
R4604:Setd1b	UTSW	5	123,290,137 (GRCm39)	small deletion	probably benign
R4647:Setd1b	UTSW	5	123,286,175 (GRCm39)	missense	unknown
R4648:Setd1b	UTSW	5	123,286,175 (GRCm39)	missense	unknown
R4675:Setd1b	UTSW	5	123,299,061 (GRCm39)	unclassified	probably benign
R5044:Setd1b	UTSW	5	123,289,929 (GRCm39)	missense	unknown
R5071:Setd1b	UTSW	5	123,298,977 (GRCm39)	unclassified	probably benign
R5220:Setd1b	UTSW	5	123,281,471 (GRCm39)	missense	unknown
R5933:Setd1b	UTSW	5	123,296,815 (GRCm39)	unclassified	probably benign
R6247:Setd1b	UTSW	5	123,296,461 (GRCm39)	intron	probably benign
R6446:Setd1b	UTSW	5	123,299,862 (GRCm39)	unclassified	probably benign
R6714:Setd1b	UTSW	5	123,295,654 (GRCm39)	missense	unknown
R6907:Setd1b	UTSW	5	123,301,295 (GRCm39)	unclassified	probably benign
R7328:Setd1b	UTSW	5	123,290,442 (GRCm39)	missense	unknown
R7412:Setd1b	UTSW	5	123,290,639 (GRCm39)	missense	unknown
R7486:Setd1b	UTSW	5	123,301,655 (GRCm39)	missense	probably benign	0.03
R7542:Setd1b	UTSW	5	123,286,510 (GRCm39)	missense	unknown
R7555:Setd1b	UTSW	5	123,295,820 (GRCm39)	missense	unknown
R7611:Setd1b	UTSW	5	123,290,657 (GRCm39)	missense	unknown
R7764:Setd1b	UTSW	5	123,284,622 (GRCm39)	missense	unknown
R7770:Setd1b	UTSW	5	123,296,815 (GRCm39)	unclassified	probably benign
R7881:Setd1b	UTSW	5	123,290,336 (GRCm39)	missense	unknown
R7977:Setd1b	UTSW	5	123,285,743 (GRCm39)	missense	unknown
R7987:Setd1b	UTSW	5	123,285,743 (GRCm39)	missense	unknown
R8131:Setd1b	UTSW	5	123,281,443 (GRCm39)	missense	unknown
R8386:Setd1b	UTSW	5	123,282,319 (GRCm39)	missense	unknown
R8845:Setd1b	UTSW	5	123,282,310 (GRCm39)	missense	unknown
R8901:Setd1b	UTSW	5	123,299,114 (GRCm39)	unclassified	probably benign
R9224:Setd1b	UTSW	5	123,296,773 (GRCm39)	missense	unknown
R9438:Setd1b	UTSW	5	123,285,944 (GRCm39)	missense	unknown
R9643:Setd1b	UTSW	5	123,298,401 (GRCm39)	missense	probably damaging	1.00
R9664:Setd1b	UTSW	5	123,298,046 (GRCm39)	missense	unknown
Z1177:Setd1b	UTSW	5	123,296,688 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TCAATTGCCTGGTTCAGCTCG -3'
(R):5'- GACATAATGATGTTCGTGGCGG -3'

Sequencing Primer
(F):5'- TGGTTCAGCTCGGTCCTC -3'
(R):5'- GCGGTTGTAGGCATCTGTGAAC -3'

Posted On

2014-08-25