Incidental Mutation 'P0037:Setd1b'
ID 7761
Institutional Source Beutler Lab
Gene Symbol Setd1b
Ensembl Gene ENSMUSG00000038384
Gene Name SET domain containing 1B
Synonyms KMT2G
MMRRC Submission 038286-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # P0037 (G1)
Quality Score
Status Validated
Chromosome 5
Chromosomal Location 123280256-123306692 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to C at 123303984 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000134353 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056053] [ENSMUST00000162839] [ENSMUST00000163030] [ENSMUST00000174836]
AlphaFold Q8CFT2
Predicted Effect unknown
Transcript: ENSMUST00000056053
AA Change: I1958T
SMART Domains Protein: ENSMUSP00000134686
Gene: ENSMUSG00000038384
AA Change: I1958T

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
SET 1 86 7.26e-2 SMART
Predicted Effect unknown
Transcript: ENSMUST00000163030
AA Change: I1958T
SMART Domains Protein: ENSMUSP00000133933
Gene: ENSMUSG00000038384
AA Change: I1958T

DomainStartEndE-ValueType
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 unknown
Transcript: ENSMUST00000174836
AA Change: I1917T
SMART Domains Protein: ENSMUSP00000134461
Gene: ENSMUSG00000038384
AA Change: I1917T

DomainStartEndE-ValueType
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199260
Meta Mutation Damage Score 0.1884 question?
Coding Region Coverage
  • 1x: 81.9%
  • 3x: 74.9%
  • 10x: 53.1%
  • 20x: 30.8%
Validation Efficiency 70% (70/100)
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: 11 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Angpt2 A G 8: 18,764,259 (GRCm39) probably benign Het
Arih1 A G 9: 59,313,076 (GRCm39) V1A possibly damaging Het
Cntn3 T C 6: 102,186,235 (GRCm39) D584G probably damaging Het
Dnah10 G A 5: 124,895,056 (GRCm39) W3471* probably null Het
Mmrn2 G A 14: 34,125,022 (GRCm39) V868M probably damaging Het
Pcdh7 G T 5: 58,070,590 (GRCm39) E1089D probably benign Het
Tex15 T C 8: 34,071,608 (GRCm39) I2385T probably benign Het
Trpm7 T C 2: 126,658,677 (GRCm39) probably benign Het
Wdr87-ps A G 7: 29,233,039 (GRCm39) noncoding transcript Het
Wdr95 A G 5: 149,511,536 (GRCm39) N412S probably benign Het
Zmiz2 T C 11: 6,353,885 (GRCm39) I755T probably damaging Het
Other mutations in Setd1b
AlleleSourceChrCoordTypePredicted EffectPPH 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
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 2012-10-29