Incidental Mutation 'R1465:Setd1a'
ID 201066
Institutional Source Beutler Lab
Gene Symbol Setd1a
Ensembl Gene ENSMUSG00000042308
Gene Name SET domain containing 1A
Synonyms KMT2F
MMRRC Submission 039519-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1465 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 127376561-127399294 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to C at 127387512 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000115248 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047075] [ENSMUST00000047157] [ENSMUST00000126761] [ENSMUST00000144406] [ENSMUST00000154987]
AlphaFold E9PYH6
Predicted Effect unknown
Transcript: ENSMUST00000047075
AA Change: S987P
SMART Domains Protein: ENSMUSP00000047672
Gene: ENSMUSG00000042308
AA Change: S987P

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: S987P
SMART Domains Protein: ENSMUSP00000037600
Gene: ENSMUSG00000042308
AA Change: S987P

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 probably benign
Transcript: ENSMUST00000126761
SMART Domains Protein: ENSMUSP00000120666
Gene: ENSMUSG00000042308

DomainStartEndE-ValueType
RRM 95 168 7.6e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000144406
SMART Domains Protein: ENSMUSP00000115248
Gene: ENSMUSG00000042308

DomainStartEndE-ValueType
RRM 95 168 7.6e-6 SMART
low complexity region 209 242 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000154987
AA Change: S444P
Coding Region Coverage
  • 1x: 97.3%
  • 3x: 96.5%
  • 10x: 93.6%
  • 20x: 86.6%
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: 105 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310030G06Rik A G 9: 50,651,866 (GRCm39) Y121H probably damaging Het
Abca13 G T 11: 9,349,303 (GRCm39) G3626W probably damaging Het
Acvr1c A G 2: 58,174,973 (GRCm39) Y192H probably damaging Het
Afm A T 5: 90,698,200 (GRCm39) D534V probably damaging Het
Agl T C 3: 116,565,021 (GRCm39) E1076G probably benign Het
Ahcyl T C 16: 45,974,211 (GRCm39) K389E probably benign Het
Angptl3 A T 4: 98,925,757 (GRCm39) H361L probably benign Het
Apob T C 12: 8,061,421 (GRCm39) F3301S possibly damaging Het
Arhgef33 T A 17: 80,674,730 (GRCm39) C376S possibly damaging Het
Ass1 A G 2: 31,410,428 (GRCm39) *413W probably null Het
Atp6v1h T A 1: 5,165,911 (GRCm39) L127Q probably damaging Het
Bcl2l1 G A 2: 152,671,870 (GRCm39) S14F probably damaging Het
Bhmt1b T G 18: 87,775,382 (GRCm39) F302V probably damaging Het
Birc6 G A 17: 74,930,853 (GRCm39) A2477T probably benign Het
Bpifb9a G A 2: 154,112,941 (GRCm39) A589T possibly damaging Het
Casp9 C A 4: 141,533,151 (GRCm39) T252K probably benign Het
Cct4 G A 11: 22,952,922 (GRCm39) D533N probably damaging Het
Clcn6 A C 4: 148,098,358 (GRCm39) I555S probably damaging Het
Col4a4 A T 1: 82,475,543 (GRCm39) probably null Het
Cyp2d10 A T 15: 82,288,129 (GRCm39) probably null Het
D930048N14Rik A G 11: 51,545,740 (GRCm39) probably benign Het
Dhfr A G 13: 92,504,815 (GRCm39) probably benign Het
Dlg5 T C 14: 24,204,764 (GRCm39) probably null Het
Dnah11 T C 12: 118,002,430 (GRCm39) E2240G probably damaging Het
Dnmt3a A G 12: 3,916,088 (GRCm39) E17G probably damaging Het
Dock1 A G 7: 134,384,138 (GRCm39) T670A probably benign Het
Dpy19l2 A G 9: 24,580,618 (GRCm39) M241T probably benign Het
Dpy19l4 A G 4: 11,296,034 (GRCm39) S212P probably damaging Het
Ephb6 T C 6: 41,593,040 (GRCm39) F426S probably damaging Het
F5 A T 1: 164,026,402 (GRCm39) D1658V probably benign Het
Faah A T 4: 115,856,755 (GRCm39) V469E probably damaging Het
Fas T C 19: 34,294,013 (GRCm39) C123R probably damaging Het
Fhod1 T C 8: 106,065,546 (GRCm39) probably benign Het
Filip1 A G 9: 79,805,589 (GRCm39) V55A probably benign Het
Frmpd1 G A 4: 45,273,197 (GRCm39) R372Q probably damaging Het
Glyctk C T 9: 106,034,806 (GRCm39) G87S probably damaging Het
Golga3 T C 5: 110,357,744 (GRCm39) L1080P probably damaging Het
Gpr137 T C 19: 6,915,812 (GRCm39) T281A probably benign Het
Grap2 T A 15: 80,532,612 (GRCm39) probably null Het
Hlcs T C 16: 94,069,151 (GRCm39) D170G probably damaging Het
Hook1 A G 4: 95,901,493 (GRCm39) T484A probably benign Het
Hoxa5 T A 6: 52,180,771 (GRCm39) H187L probably benign Het
Inpp1 G T 1: 52,829,253 (GRCm39) S255R probably benign Het
Inpp4b T A 8: 82,494,786 (GRCm39) V67E probably damaging Het
Iqgap3 A G 3: 87,994,616 (GRCm39) N105S probably damaging Het
Kcnq5 A G 1: 21,539,692 (GRCm39) probably null Het
Klhl1 T C 14: 96,477,649 (GRCm39) N473S probably benign Het
Klk1b24 C A 7: 43,840,785 (GRCm39) T71N probably benign Het
Loxhd1 A G 18: 77,468,269 (GRCm39) probably null Het
Lrp1b C T 2: 41,001,071 (GRCm39) R2165Q probably benign Het
Lrp2bp A T 8: 46,478,272 (GRCm39) Q328L possibly damaging Het
Lrrc63 T A 14: 75,344,829 (GRCm39) K419N possibly damaging Het
Lrrc9 A G 12: 72,547,533 (GRCm39) N150S probably benign Het
Lrrn4 C A 2: 132,713,995 (GRCm39) C317F probably damaging Het
Ltbp2 T C 12: 84,860,074 (GRCm39) S627G probably damaging Het
Macf1 A T 4: 123,386,947 (GRCm39) S1224T probably damaging Het
Meis2 A C 2: 115,889,151 (GRCm39) H200Q probably benign Het
Mesd C A 7: 83,544,790 (GRCm39) A80E probably benign Het
Mtor G T 4: 148,610,450 (GRCm39) probably benign Het
Myo3a T C 2: 22,467,939 (GRCm39) F398L probably benign Het
Nagpa G T 16: 5,019,392 (GRCm39) probably benign Het
Nanp A G 2: 150,872,749 (GRCm39) C60R probably benign Het
Nectin2 T G 7: 19,464,041 (GRCm39) M313L probably benign Het
Nek4 C T 14: 30,678,844 (GRCm39) H123Y probably damaging Het
Nploc4 A G 11: 120,299,607 (GRCm39) V371A probably damaging Het
Ntrk3 T C 7: 78,005,762 (GRCm39) probably benign Het
Or11g7 A G 14: 50,690,634 (GRCm39) T42A possibly damaging Het
Or13c7b A G 4: 43,820,723 (GRCm39) F213L probably benign Het
Or52n4 T C 7: 104,294,153 (GRCm39) N140S probably benign Het
Or5b109 T A 19: 13,212,265 (GRCm39) V217E possibly damaging Het
Pcdh20 T A 14: 88,706,673 (GRCm39) Q209L probably benign Het
Pcdhb20 G A 18: 37,637,750 (GRCm39) R92H probably damaging Het
Pgap1 T C 1: 54,567,714 (GRCm39) H377R probably benign Het
Phyhipl G T 10: 70,406,798 (GRCm39) P52Q probably damaging Het
Plekhg4 T C 8: 106,107,672 (GRCm39) probably benign Het
Pwwp2a T A 11: 43,596,383 (GRCm39) V516E possibly damaging Het
Rack1 T C 11: 48,692,586 (GRCm39) V69A probably damaging Het
Rexo5 T A 7: 119,400,581 (GRCm39) probably null Het
Rnf123 T C 9: 107,948,665 (GRCm39) probably benign Het
Rock1 G T 18: 10,072,863 (GRCm39) Q1161K possibly damaging Het
Rps6ka2 T C 17: 7,560,266 (GRCm39) L568P probably damaging Het
Seh1l T C 18: 67,917,054 (GRCm39) S78P probably damaging Het
Serpinb3b A T 1: 107,083,573 (GRCm39) probably null Het
Setx G T 2: 29,030,401 (GRCm39) probably null Het
Sh3bp1 T C 15: 78,791,545 (GRCm39) probably benign Het
Shc2 G T 10: 79,467,136 (GRCm39) R146S probably damaging Het
Skap2 T C 6: 51,886,348 (GRCm39) T5A probably benign Het
Skor2 A T 18: 76,964,340 (GRCm39) probably benign Het
Slc35a3 T C 3: 116,480,983 (GRCm39) I93M probably benign Het
Sohlh1 C T 2: 25,733,359 (GRCm39) G295D probably damaging Het
Speg A G 1: 75,405,128 (GRCm39) probably benign Het
Sult2a8 A C 7: 14,150,208 (GRCm39) C168G probably benign Het
Tax1bp1 T C 6: 52,704,179 (GRCm39) probably benign Het
Tbc1d4 T C 14: 101,685,124 (GRCm39) I1176V possibly damaging Het
Tcof1 A G 18: 60,952,026 (GRCm39) probably benign Het
Thada A T 17: 84,744,104 (GRCm39) F735I possibly damaging Het
Tle1 A C 4: 72,058,068 (GRCm39) H52Q probably damaging Het
Tmem101 A T 11: 102,044,155 (GRCm39) V244E probably damaging Het
Tnfrsf26 C A 7: 143,171,668 (GRCm39) C95F probably damaging Het
Uspl1 T C 5: 149,150,842 (GRCm39) S482P probably benign Het
Vmn2r118 G T 17: 55,917,935 (GRCm39) N192K probably benign Het
Vmn2r14 C T 5: 109,368,195 (GRCm39) V266I possibly damaging Het
Vmn2r51 A G 7: 9,834,249 (GRCm39) I263T probably damaging Het
Zfp937 T A 2: 150,080,967 (GRCm39) C332* probably null Het
Zscan21 T A 5: 138,123,470 (GRCm39) S50T 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
IGL02792:Setd1a APN 7 127,390,522 (GRCm39) missense unknown
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
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
Predicted Primers PCR Primer
(F):5'- GCCTCCAGGATGGCAAAGCATTAAC -3'
(R):5'- TCTTGGTGGCATCCACAGCTTC -3'

Sequencing Primer
(F):5'- CTGCTAATAGATTGTAACTGCTCTG -3'
(R):5'- GTTCTtcatcttcctcatcttcatc -3'
Posted On 2014-05-23