Incidental Mutation 'R4445:Setd1b'
ID 329831
Institutional Source Beutler Lab
Gene Symbol Setd1b
Ensembl Gene ENSMUSG00000038384
Gene Name SET domain containing 1B
Synonyms KMT2G
MMRRC Submission 041151-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4445 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 123280256-123306692 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 123286167 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 404 (E404D)
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: E404D
SMART Domains Protein: ENSMUSP00000134686
Gene: ENSMUSG00000038384
AA Change: E404D

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: ENSMUST00000100731
Predicted Effect unknown
Transcript: ENSMUST00000163030
AA Change: E404D
SMART Domains Protein: ENSMUSP00000133933
Gene: ENSMUSG00000038384
AA Change: E404D

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 unknown
Transcript: ENSMUST00000174836
AA Change: E404D
SMART Domains Protein: ENSMUSP00000134461
Gene: ENSMUSG00000038384
AA Change: E404D

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.5%
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg6 A G 10: 14,285,507 (GRCm39) S1160P probably damaging Het
Adgrl1 T C 8: 84,661,489 (GRCm39) L962P probably damaging Het
Arl6 A T 16: 59,444,676 (GRCm39) I51K probably damaging Het
Calcoco1 A G 15: 102,624,175 (GRCm39) probably null Het
Cd59a A G 2: 103,941,163 (GRCm39) Q47R probably benign Het
Cdkl2 G A 5: 92,168,168 (GRCm39) T342I probably benign Het
Cfap45 G A 1: 172,362,794 (GRCm39) V262M probably benign Het
Chd8 A T 14: 52,441,984 (GRCm39) probably null Het
Cntnap2 C T 6: 46,736,785 (GRCm39) T737I probably benign Het
Cplane1 A G 15: 8,281,672 (GRCm39) D2837G unknown Het
Crot T C 5: 9,023,643 (GRCm39) H415R probably damaging Het
Cyp17a1 A G 19: 46,656,462 (GRCm39) F411L probably damaging Het
Cyp4a12a G A 4: 115,183,980 (GRCm39) probably null Het
Cysltr2 G A 14: 73,267,333 (GRCm39) H126Y possibly damaging Het
Ddx56 A T 11: 6,215,770 (GRCm39) probably null Het
Dync2i1 G A 12: 116,171,335 (GRCm39) A967V probably damaging Het
Elmod1 T A 9: 53,841,413 (GRCm39) D93V probably damaging Het
Epb41l2 T C 10: 25,319,701 (GRCm39) L178P possibly damaging Het
Flacc1 A T 1: 58,706,080 (GRCm39) I263K possibly damaging Het
Galnt10 T A 11: 57,674,517 (GRCm39) V502D probably damaging Het
Gm11735 T C 11: 116,629,888 (GRCm39) noncoding transcript Het
H4c12 T C 13: 21,934,513 (GRCm39) T55A possibly damaging Het
Homer3 G A 8: 70,742,793 (GRCm39) probably null Het
Igsf9b A G 9: 27,245,548 (GRCm39) T1172A probably benign Het
Ip6k3 A G 17: 27,364,076 (GRCm39) I324T probably benign Het
Klkb1 C T 8: 45,730,092 (GRCm39) S263N probably benign Het
Lrit3 A T 3: 129,582,180 (GRCm39) C602* probably null Het
Lyst T C 13: 13,884,149 (GRCm39) S2986P probably benign Het
Mapkapk5 T C 5: 121,663,291 (GRCm39) T445A probably benign Het
Mms19 A T 19: 41,952,372 (GRCm39) M119K possibly damaging Het
Myo7a T C 7: 97,715,611 (GRCm39) D63G probably damaging Het
Nscme3l A T 19: 5,553,022 (GRCm39) V253D probably damaging Het
Nsun2 G A 13: 69,777,840 (GRCm39) probably null Het
Or13a24 C A 7: 140,154,302 (GRCm39) P79T probably damaging Het
Or1ak2 T G 2: 36,827,563 (GRCm39) L144R probably damaging Het
Or2ag1b T A 7: 106,288,353 (GRCm39) Y195F possibly damaging Het
Or51t4 T C 7: 102,598,005 (GRCm39) L101P possibly damaging Het
Pabpc2 T C 18: 39,907,253 (GRCm39) F173L probably damaging Het
Rngtt A G 4: 33,499,035 (GRCm39) I531V probably benign Het
Sacs A G 14: 61,442,135 (GRCm39) M1394V probably benign Het
Slc25a54 G A 3: 109,005,984 (GRCm39) R164H probably benign Het
Slc2a13 A G 15: 91,234,223 (GRCm39) V371A possibly damaging Het
Spag9 C G 11: 93,988,079 (GRCm39) L798V possibly damaging Het
Tbce A T 13: 14,172,980 (GRCm39) S484T possibly damaging Het
Tcf12 C T 9: 71,776,345 (GRCm39) R399Q probably damaging Het
Ttn A G 2: 76,615,177 (GRCm39) V16847A probably benign Het
Ttn A G 2: 76,687,210 (GRCm39) probably benign Het
Vmn1r11 T G 6: 57,114,515 (GRCm39) L23V probably benign Het
Vmn2r59 C T 7: 41,691,874 (GRCm39) C541Y probably damaging Het
Vmn2r82 A C 10: 79,214,874 (GRCm39) T286P possibly damaging Het
Vps13c T G 9: 67,889,777 (GRCm39) probably null Het
Ypel1 A T 16: 16,921,464 (GRCm39) Y73* probably null Het
Zdhhc6 T C 19: 55,291,169 (GRCm39) I349V 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
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
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'- ATGTCCACAACTCAGCGGTG -3'
(R):5'- TCAGGACTCCAGCCAAAGGTAG -3'

Sequencing Primer
(F):5'- ACAGCTCCTTTCCGAGGC -3'
(R):5'- CAGCCAAAGGTAGGCCGAC -3'
Posted On 2015-07-21