Incidental Mutation 'R0844:Setd1b'
ID 77288
Institutional Source Beutler Lab
Gene Symbol Setd1b
Ensembl Gene ENSMUSG00000038384
Gene Name SET domain containing 1B
Synonyms KMT2G
MMRRC Submission 039023-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0844 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 123280256-123306692 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) C to T at 123298748 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: R1595W
SMART Domains Protein: ENSMUSP00000134686
Gene: ENSMUSG00000038384
AA Change: R1595W

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: R1595W
SMART Domains Protein: ENSMUSP00000133933
Gene: ENSMUSG00000038384
AA Change: R1595W

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: R1554W
SMART Domains Protein: ENSMUSP00000134461
Gene: ENSMUSG00000038384
AA Change: R1554W

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
Meta Mutation Damage Score 0.0715 question?
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 98.9%
  • 10x: 97.7%
  • 20x: 95.8%
Validation Efficiency 100% (27/27)
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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700097O09Rik T C 12: 55,126,858 (GRCm39) D2G possibly damaging Het
Abca5 T C 11: 110,210,658 (GRCm39) T174A probably benign Het
Asb2 T C 12: 103,291,805 (GRCm39) H374R probably damaging Het
Clca4b A G 3: 144,622,532 (GRCm39) I511T probably damaging Het
Cnmd G A 14: 79,879,391 (GRCm39) T249I probably benign Het
Cyp4a12b T G 4: 115,289,721 (GRCm39) M196R possibly damaging Het
Ddx60 T C 8: 62,440,395 (GRCm39) Y1016H probably benign Het
Elapor1 T C 3: 108,388,279 (GRCm39) probably benign Het
Ero1a A G 14: 45,530,457 (GRCm39) L325P probably damaging Het
Etv1 T C 12: 38,911,353 (GRCm39) L393P probably damaging Het
Fdx1 G T 9: 51,859,909 (GRCm39) D33E probably damaging Het
Gpr180 T C 14: 118,395,359 (GRCm39) C264R probably damaging Het
Grik2 A T 10: 48,977,211 (GRCm39) M907K possibly damaging Het
Itga10 C T 3: 96,559,054 (GRCm39) probably benign Het
Klrh1 C G 6: 129,752,756 (GRCm39) K16N possibly damaging Het
Mpdz A G 4: 81,339,431 (GRCm39) probably benign Het
Myo9b C T 8: 71,743,119 (GRCm39) S60L probably benign Het
Naxe A T 3: 87,965,715 (GRCm39) V28E probably benign Het
Nup155 A T 15: 8,187,244 (GRCm39) H1391L probably damaging Het
Otog T C 7: 45,937,252 (GRCm39) S1654P possibly damaging Het
Spag17 A G 3: 99,912,101 (GRCm39) T324A probably benign Het
Sucla2 C T 14: 73,798,074 (GRCm39) probably benign Het
Tbc1d12 G T 19: 38,825,515 (GRCm39) R122L probably benign Het
Tmx4 A G 2: 134,441,928 (GRCm39) probably null Het
Trnt1 A G 6: 106,751,464 (GRCm39) D147G probably damaging Het
Trpm7 A T 2: 126,677,428 (GRCm39) V463E probably damaging Het
Wdr82 G A 9: 106,065,780 (GRCm39) probably benign 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
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
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
Predicted Primers PCR Primer
(F):5'- TCGGGACTTCAGCTTCACACCTAC -3'
(R):5'- GGTCATCTCCTCAAACTCTGAGCG -3'

Sequencing Primer
(F):5'- AGTGCTCCTGGAAACTGGC -3'
(R):5'- CACCAGGTCTTCGTGCC -3'
Posted On 2013-10-16