Incidental Mutation 'IGL02792:Setd1a'
ID 359812
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Setd1a
Ensembl Gene ENSMUSG00000042308
Gene Name SET domain containing 1A
Synonyms KMT2F
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02792
Quality Score
Status
Chromosome 7
Chromosomal Location 127376561-127399294 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 127390522 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Phenylalanine at position 523 (S523F)
Ref Sequence ENSEMBL: ENSMUSP00000145647 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047075] [ENSMUST00000047157] [ENSMUST00000154987]
AlphaFold E9PYH6
Predicted Effect unknown
Transcript: ENSMUST00000047075
AA Change: S1066F
SMART Domains Protein: ENSMUSP00000047672
Gene: ENSMUSG00000042308
AA Change: S1066F

DomainStartEndE-ValueType
RRM 95 168 7.6e-6 SMART
low complexity region 209 242 N/A INTRINSIC
low complexity region 278 295 N/A INTRINSIC
low complexity region 315 357 N/A INTRINSIC
low complexity region 427 487 N/A INTRINSIC
Blast:SET 488 976 N/A BLAST
low complexity region 977 1007 N/A INTRINSIC
low complexity region 1015 1079 N/A INTRINSIC
low complexity region 1087 1098 N/A INTRINSIC
low complexity region 1122 1152 N/A INTRINSIC
low complexity region 1157 1173 N/A INTRINSIC
Blast:SET 1193 1310 2e-24 BLAST
low complexity region 1311 1368 N/A INTRINSIC
low complexity region 1369 1396 N/A INTRINSIC
N-SET 1428 1567 6.75e-64 SMART
SET 1577 1700 3.22e-35 SMART
PostSET 1700 1716 1.16e-4 SMART
Predicted Effect unknown
Transcript: ENSMUST00000047157
AA Change: S1066F
SMART Domains Protein: ENSMUSP00000037600
Gene: ENSMUSG00000042308
AA Change: S1066F

DomainStartEndE-ValueType
RRM 95 168 7.6e-6 SMART
low complexity region 209 242 N/A INTRINSIC
low complexity region 278 295 N/A INTRINSIC
low complexity region 315 357 N/A INTRINSIC
low complexity region 427 487 N/A INTRINSIC
Blast:SET 488 976 N/A BLAST
low complexity region 977 1007 N/A INTRINSIC
low complexity region 1015 1079 N/A INTRINSIC
low complexity region 1087 1098 N/A INTRINSIC
low complexity region 1122 1152 N/A INTRINSIC
low complexity region 1157 1173 N/A INTRINSIC
Blast:SET 1193 1310 2e-24 BLAST
low complexity region 1311 1368 N/A INTRINSIC
low complexity region 1369 1396 N/A INTRINSIC
N-SET 1428 1567 6.75e-64 SMART
SET 1577 1700 3.22e-35 SMART
PostSET 1700 1716 1.16e-4 SMART
Predicted Effect unknown
Transcript: ENSMUST00000154987
AA Change: S523F
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a component of a histone methyltransferase (HMT) complex that produces mono-, di-, and trimethylated histone H3 at Lys4. Trimethylation of histone H3 at lysine 4 (H3K4me3) is a chromatin modification known to generally mark the transcription start sites of active genes. The protein contains SET domains, a RNA recognition motif domain and is a member of the class V-like SAM-binding methyltransferase superfamily. [provided by RefSeq, Dec 2016]
PHENOTYPE: Animals homozygous for this allele were dead by E7.5 [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700067P10Rik G A 17: 48,401,107 (GRCm39) V131M probably benign Het
Abca6 A T 11: 110,079,507 (GRCm39) C1216S probably damaging Het
Acly T C 11: 100,369,236 (GRCm39) K1018E probably damaging Het
Acsl5 G A 19: 55,282,163 (GRCm39) probably null Het
Adgrb1 C A 15: 74,419,471 (GRCm39) L771I probably damaging Het
Adh7 A T 3: 137,929,498 (GRCm39) K89I probably damaging Het
Adora2b A T 11: 62,156,309 (GRCm39) I253F possibly damaging Het
Akna G A 4: 63,295,943 (GRCm39) P975S possibly damaging Het
Alg9 T C 9: 50,754,048 (GRCm39) L576P possibly damaging Het
Arhgap20 A G 9: 51,761,218 (GRCm39) E1023G possibly damaging Het
Astn2 A T 4: 65,563,058 (GRCm39) S908T probably benign Het
Atp1a4 C T 1: 172,054,866 (GRCm39) probably null Het
Cabin1 T C 10: 75,582,573 (GRCm39) Y281C probably damaging Het
Cdc42bpb G T 12: 111,265,995 (GRCm39) F1312L probably benign Het
Cfap65 A C 1: 74,966,337 (GRCm39) F330C probably damaging Het
Col27a1 C T 4: 63,233,820 (GRCm39) P689S unknown Het
Col4a3 A T 1: 82,696,524 (GRCm39) K1643N probably damaging Het
Dop1b T A 16: 93,598,460 (GRCm39) V1875D possibly damaging Het
Eftud2 A G 11: 102,761,082 (GRCm39) probably benign Het
Ergic3 C A 2: 155,859,770 (GRCm39) T357K probably damaging Het
Glra1 A T 11: 55,427,226 (GRCm39) D36E probably damaging Het
Gpatch1 A G 7: 35,001,018 (GRCm39) Y330H probably damaging Het
Hmcn2 T C 2: 31,236,602 (GRCm39) S382P probably damaging Het
Kat6a G A 8: 23,428,316 (GRCm39) E1224K probably damaging Het
Klk13 A G 7: 43,370,838 (GRCm39) E29G possibly damaging Het
Klra9 T C 6: 130,165,643 (GRCm39) D124G probably benign Het
Lrmda T C 14: 22,069,978 (GRCm39) probably null Het
Ltbp1 G A 17: 75,589,989 (GRCm39) V539M probably damaging Het
Ngfr A C 11: 95,462,687 (GRCm39) L317R probably damaging Het
Nlrp6 C A 7: 140,502,348 (GRCm39) H151Q probably damaging Het
Nnt A G 13: 119,494,182 (GRCm39) L633P probably damaging Het
Nxpe3 C T 16: 55,686,535 (GRCm39) V158M probably damaging Het
Or11i1 T C 3: 106,729,456 (GRCm39) T140A probably damaging Het
Or2d36 T C 7: 106,747,425 (GRCm39) F301L probably benign Het
Or7g16 C T 9: 18,727,254 (GRCm39) S112N probably benign Het
Pla2g4f T C 2: 120,133,850 (GRCm39) Y517C probably damaging Het
Poc1a A T 9: 106,172,393 (GRCm39) I207F possibly damaging Het
Polr2a A G 11: 69,636,938 (GRCm39) S338P probably damaging Het
Ptprz1 T C 6: 22,959,722 (GRCm39) V73A probably damaging Het
Relb A T 7: 19,347,789 (GRCm39) L281Q probably damaging Het
Rrp8 A T 7: 105,383,018 (GRCm39) L382* probably null Het
Slamf8 A G 1: 172,415,697 (GRCm39) I47T probably damaging Het
Slc16a4 G A 3: 107,206,193 (GRCm39) A88T probably benign Het
Sox6 C T 7: 115,140,884 (GRCm39) M532I probably benign Het
Tcp11l1 T A 2: 104,512,165 (GRCm39) Y489F probably benign Het
Tdrd6 T G 17: 43,935,918 (GRCm39) D1710A probably benign Het
Trim58 C T 11: 58,531,292 (GRCm39) probably benign Het
Vangl1 A T 3: 102,070,739 (GRCm39) I399N probably damaging Het
Vmn1r201 T C 13: 22,659,014 (GRCm39) L76P probably damaging Het
Vmn1r58 T C 7: 5,414,228 (GRCm39) M1V probably null Het
Wdfy4 T C 14: 32,817,262 (GRCm39) I1561V probably benign Het
Xkr9 A G 1: 13,771,027 (GRCm39) D181G probably damaging Het
Zfp318 T C 17: 46,720,104 (GRCm39) F1101L probably damaging Het
Zfpm2 C A 15: 40,966,409 (GRCm39) Q833K probably benign Het
Other mutations in Setd1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02508:Setd1a APN 7 127,396,870 (GRCm39) unclassified probably benign
IGL02657:Setd1a APN 7 127,394,997 (GRCm39) unclassified probably benign
IGL02876:Setd1a APN 7 127,377,673 (GRCm39) splice site probably benign
IGL02967:Setd1a APN 7 127,384,349 (GRCm39) unclassified probably benign
IGL03090:Setd1a APN 7 127,385,672 (GRCm39) missense possibly damaging 0.83
IGL03238:Setd1a APN 7 127,384,718 (GRCm39) missense possibly damaging 0.86
FR4449:Setd1a UTSW 7 127,384,498 (GRCm39) unclassified probably benign
FR4548:Setd1a UTSW 7 127,384,485 (GRCm39) unclassified probably benign
FR4548:Setd1a UTSW 7 127,384,479 (GRCm39) unclassified probably benign
FR4589:Setd1a UTSW 7 127,384,469 (GRCm39) unclassified probably benign
FR4737:Setd1a UTSW 7 127,384,484 (GRCm39) unclassified probably benign
FR4976:Setd1a UTSW 7 127,384,488 (GRCm39) unclassified probably benign
FR4976:Setd1a UTSW 7 127,384,479 (GRCm39) unclassified probably benign
R0367:Setd1a UTSW 7 127,387,358 (GRCm39) splice site probably benign
R0411:Setd1a UTSW 7 127,395,223 (GRCm39) unclassified probably benign
R0416:Setd1a UTSW 7 127,384,469 (GRCm39) unclassified probably benign
R0470:Setd1a UTSW 7 127,384,229 (GRCm39) unclassified probably benign
R0645:Setd1a UTSW 7 127,386,382 (GRCm39) missense probably damaging 0.96
R0667:Setd1a UTSW 7 127,385,765 (GRCm39) missense probably damaging 0.99
R1251:Setd1a UTSW 7 127,396,596 (GRCm39) unclassified probably benign
R1465:Setd1a UTSW 7 127,387,512 (GRCm39) unclassified probably benign
R1465:Setd1a UTSW 7 127,387,512 (GRCm39) unclassified probably benign
R1660:Setd1a UTSW 7 127,395,841 (GRCm39) unclassified probably benign
R1730:Setd1a UTSW 7 127,384,296 (GRCm39) nonsense probably null
R1760:Setd1a UTSW 7 127,385,062 (GRCm39) missense possibly damaging 0.68
R1783:Setd1a UTSW 7 127,384,296 (GRCm39) nonsense probably null
R2149:Setd1a UTSW 7 127,385,690 (GRCm39) missense possibly damaging 0.75
R2159:Setd1a UTSW 7 127,384,661 (GRCm39) missense possibly damaging 0.91
R2303:Setd1a UTSW 7 127,398,327 (GRCm39) unclassified probably benign
R2679:Setd1a UTSW 7 127,394,896 (GRCm39) unclassified probably benign
R3428:Setd1a UTSW 7 127,384,493 (GRCm39) unclassified probably benign
R4108:Setd1a UTSW 7 127,398,374 (GRCm39) unclassified probably benign
R4227:Setd1a UTSW 7 127,395,819 (GRCm39) unclassified probably benign
R4438:Setd1a UTSW 7 127,384,903 (GRCm39) missense possibly damaging 0.83
R4730:Setd1a UTSW 7 127,396,502 (GRCm39) unclassified probably benign
R4869:Setd1a UTSW 7 127,396,776 (GRCm39) unclassified probably benign
R4892:Setd1a UTSW 7 127,377,696 (GRCm39) missense probably damaging 0.99
R5152:Setd1a UTSW 7 127,383,197 (GRCm39) missense probably benign
R5502:Setd1a UTSW 7 127,396,420 (GRCm39) critical splice donor site probably null
R5527:Setd1a UTSW 7 127,384,801 (GRCm39) missense probably damaging 0.99
R6189:Setd1a UTSW 7 127,377,455 (GRCm39) splice site probably null
R6250:Setd1a UTSW 7 127,390,471 (GRCm39) missense unknown
R7131:Setd1a UTSW 7 127,395,590 (GRCm39) small deletion probably benign
R7988:Setd1a UTSW 7 127,385,366 (GRCm39) missense probably benign 0.02
R8029:Setd1a UTSW 7 127,385,386 (GRCm39) missense probably benign 0.08
R8079:Setd1a UTSW 7 127,384,225 (GRCm39) missense unknown
R8171:Setd1a UTSW 7 127,390,399 (GRCm39) missense unknown
R8175:Setd1a UTSW 7 127,395,415 (GRCm39) missense unknown
R8286:Setd1a UTSW 7 127,385,356 (GRCm39) missense possibly damaging 0.96
R8327:Setd1a UTSW 7 127,390,669 (GRCm39) missense unknown
R8460:Setd1a UTSW 7 127,383,292 (GRCm39) missense unknown
R8547:Setd1a UTSW 7 127,395,676 (GRCm39) unclassified probably benign
R8699:Setd1a UTSW 7 127,385,774 (GRCm39) missense possibly damaging 0.53
R8822:Setd1a UTSW 7 127,385,332 (GRCm39) missense possibly damaging 0.86
R8968:Setd1a UTSW 7 127,385,279 (GRCm39) missense possibly damaging 0.93
R9063:Setd1a UTSW 7 127,385,558 (GRCm39) missense possibly damaging 0.91
R9178:Setd1a UTSW 7 127,385,590 (GRCm39) missense possibly damaging 0.93
R9672:Setd1a UTSW 7 127,385,237 (GRCm39) missense possibly damaging 0.96
R9700:Setd1a UTSW 7 127,385,752 (GRCm39) missense possibly damaging 0.53
RF001:Setd1a UTSW 7 127,384,486 (GRCm39) unclassified probably benign
RF008:Setd1a UTSW 7 127,384,486 (GRCm39) unclassified probably benign
RF011:Setd1a UTSW 7 127,384,515 (GRCm39) unclassified probably benign
RF014:Setd1a UTSW 7 127,384,518 (GRCm39) unclassified probably benign
RF030:Setd1a UTSW 7 127,384,483 (GRCm39) unclassified probably benign
RF030:Setd1a UTSW 7 127,384,473 (GRCm39) unclassified probably benign
RF031:Setd1a UTSW 7 127,384,483 (GRCm39) unclassified probably benign
RF036:Setd1a UTSW 7 127,384,472 (GRCm39) unclassified probably benign
RF041:Setd1a UTSW 7 127,384,504 (GRCm39) unclassified probably benign
RF052:Setd1a UTSW 7 127,384,529 (GRCm39) unclassified probably benign
RF055:Setd1a UTSW 7 127,384,471 (GRCm39) unclassified probably benign
RF056:Setd1a UTSW 7 127,384,500 (GRCm39) unclassified probably benign
RF056:Setd1a UTSW 7 127,384,475 (GRCm39) unclassified probably benign
RF058:Setd1a UTSW 7 127,384,490 (GRCm39) unclassified probably benign
Z1176:Setd1a UTSW 7 127,398,266 (GRCm39) missense unknown
Posted On 2015-12-18