Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03006:Setd1b'

407547

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL03006

Quality Score

Status

Chromosome

Chromosomal Location

123280256-123306692 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 123286514 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 520 (E520G)

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: E520G

SMART Domains

Protein: ENSMUSP00000134686
Gene: ENSMUSG00000038384
AA Change: E520G

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: E520G

SMART Domains

Protein: ENSMUSP00000133933
Gene: ENSMUSG00000038384
AA Change: E520G

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: E520G

SMART Domains

Protein: ENSMUSP00000134461
Gene: ENSMUSG00000038384
AA Change: E520G

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

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	T	A	11: 109,718,671 (GRCm39)	S21C	probably damaging	Het
2210408I21Rik	T	C	13: 77,471,891 (GRCm39)		probably null	Het
Abcc3	T	C	11: 94,259,421 (GRCm39)	D340G	probably benign	Het
Adamts17	G	T	7: 66,728,095 (GRCm39)	R879L	possibly damaging	Het
Adissp	A	C	2: 130,993,634 (GRCm39)	D22E	probably damaging	Het
Cacna1f	C	A	X: 7,493,142 (GRCm39)	T1275K	probably damaging	Het
Csmd2	T	A	4: 128,374,558 (GRCm39)		probably benign	Het
Dll1	C	T	17: 15,593,854 (GRCm39)	R171Q	probably benign	Het
Dnm1	T	A	2: 32,243,133 (GRCm39)	D30V	possibly damaging	Het
Fam184a	G	A	10: 53,574,793 (GRCm39)	S216L	probably damaging	Het
Fbxo33	G	A	12: 59,251,105 (GRCm39)	A470V	probably benign	Het
Gm6401	C	T	14: 41,788,851 (GRCm39)	E73K	possibly damaging	Het
Ighv7-1	A	T	12: 113,860,145 (GRCm39)	S82R	probably damaging	Het
Klk1b4	A	G	7: 43,861,019 (GRCm39)	I221V	probably benign	Het
Lama3	T	C	18: 12,601,425 (GRCm39)		probably benign	Het
Lrch1	A	G	14: 75,051,060 (GRCm39)	L359P	probably damaging	Het
Mapk8ip3	T	C	17: 25,120,489 (GRCm39)	T882A	probably benign	Het
Med12	C	T	X: 100,321,684 (GRCm39)	R456W	probably damaging	Het
Mms22l	T	C	4: 24,521,253 (GRCm39)	S267P	probably damaging	Het
Mtpap	G	A	18: 4,375,721 (GRCm39)	G34R	possibly damaging	Het
Nf1	G	A	11: 79,436,257 (GRCm39)	D1966N	probably damaging	Het
Nlrp9c	G	A	7: 26,071,507 (GRCm39)	T867I	probably damaging	Het
Nrap	C	T	19: 56,335,596 (GRCm39)	V941I	probably benign	Het
Or5k1b	T	A	16: 58,581,511 (GRCm39)	K9N	probably benign	Het
Pcdh10	A	G	3: 45,333,937 (GRCm39)	I84V	probably damaging	Het
Polr3d	T	A	14: 70,678,603 (GRCm39)		probably null	Het
Prkar2a	G	T	9: 108,617,640 (GRCm39)	V233L	probably benign	Het
Prl4a1	T	C	13: 28,207,359 (GRCm39)	V211A	probably damaging	Het
Qpct	T	C	17: 79,378,151 (GRCm39)	V107A	probably benign	Het
Rai1	T	C	11: 60,079,031 (GRCm39)	S1032P	possibly damaging	Het
Rims1	G	T	1: 22,367,178 (GRCm39)	T1113K	probably damaging	Het
Rxra	C	T	2: 27,649,657 (GRCm39)	T454I	probably damaging	Het
S100z	T	C	13: 95,615,127 (GRCm39)	I13V	probably damaging	Het
Scp2	T	C	4: 107,948,477 (GRCm39)	K167E	probably benign	Het
Sephs2	A	G	7: 126,872,206 (GRCm39)	F296L	probably benign	Het
Slc28a2	G	A	2: 122,283,019 (GRCm39)	V308M	possibly damaging	Het
Smarcad1	T	A	6: 65,060,873 (GRCm39)	I451K	probably benign	Het
Tarbp1	C	T	8: 127,170,881 (GRCm39)	D1040N	probably damaging	Het
Tdrd6	T	C	17: 43,936,323 (GRCm39)	D1575G	probably damaging	Het
Tll1	T	A	8: 64,527,251 (GRCm39)		probably benign	Het
Tsks	A	T	7: 44,600,198 (GRCm39)		probably benign	Het
Ttc1	A	T	11: 43,636,147 (GRCm39)	M32K	probably benign	Het
Txlnb	C	T	10: 17,714,723 (GRCm39)	A385V	probably damaging	Het
Zc4h2	T	C	X: 94,687,019 (GRCm39)	H98R	probably 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
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
R1987:Setd1b	UTSW	5	123,285,769 (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

Posted On

2016-08-02