Incidental Mutation 'R1530:Setd5'
ID 166545
Institutional Source Beutler Lab
Gene Symbol Setd5
Ensembl Gene ENSMUSG00000034269
Gene Name SET domain containing 5
Synonyms 2900045N06Rik
MMRRC Submission 039569-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1530 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 113054326-113130393 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 113086874 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 34 (V34I)
Ref Sequence ENSEMBL: ENSMUSP00000108782 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042889] [ENSMUST00000113155] [ENSMUST00000113157]
AlphaFold Q5XJV7
Predicted Effect probably damaging
Transcript: ENSMUST00000042889
AA Change: V34I

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000047398
Gene: ENSMUSG00000034269
AA Change: V34I

DomainStartEndE-ValueType
low complexity region 165 180 N/A INTRINSIC
SET 272 396 1.09e-23 SMART
low complexity region 417 429 N/A INTRINSIC
low complexity region 436 451 N/A INTRINSIC
low complexity region 476 495 N/A INTRINSIC
low complexity region 539 552 N/A INTRINSIC
low complexity region 561 572 N/A INTRINSIC
low complexity region 600 621 N/A INTRINSIC
low complexity region 635 650 N/A INTRINSIC
low complexity region 850 866 N/A INTRINSIC
low complexity region 1082 1107 N/A INTRINSIC
low complexity region 1122 1138 N/A INTRINSIC
low complexity region 1250 1259 N/A INTRINSIC
low complexity region 1283 1301 N/A INTRINSIC
low complexity region 1335 1346 N/A INTRINSIC
low complexity region 1352 1372 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000113155
AA Change: V34I

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000108780
Gene: ENSMUSG00000034269
AA Change: V34I

DomainStartEndE-ValueType
low complexity region 65 76 N/A INTRINSIC
low complexity region 184 199 N/A INTRINSIC
SET 291 415 1.09e-23 SMART
low complexity region 436 448 N/A INTRINSIC
low complexity region 455 470 N/A INTRINSIC
low complexity region 495 514 N/A INTRINSIC
low complexity region 558 571 N/A INTRINSIC
low complexity region 580 591 N/A INTRINSIC
low complexity region 619 640 N/A INTRINSIC
low complexity region 654 669 N/A INTRINSIC
low complexity region 869 885 N/A INTRINSIC
low complexity region 1101 1126 N/A INTRINSIC
low complexity region 1141 1157 N/A INTRINSIC
low complexity region 1269 1278 N/A INTRINSIC
low complexity region 1302 1320 N/A INTRINSIC
low complexity region 1354 1365 N/A INTRINSIC
low complexity region 1371 1391 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000113157
AA Change: V34I

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000108782
Gene: ENSMUSG00000034269
AA Change: V34I

DomainStartEndE-ValueType
low complexity region 65 76 N/A INTRINSIC
low complexity region 184 199 N/A INTRINSIC
SET 291 415 1.09e-23 SMART
low complexity region 436 448 N/A INTRINSIC
low complexity region 455 470 N/A INTRINSIC
low complexity region 495 514 N/A INTRINSIC
low complexity region 558 571 N/A INTRINSIC
low complexity region 580 591 N/A INTRINSIC
low complexity region 619 640 N/A INTRINSIC
low complexity region 654 669 N/A INTRINSIC
low complexity region 869 885 N/A INTRINSIC
low complexity region 1101 1126 N/A INTRINSIC
low complexity region 1141 1157 N/A INTRINSIC
low complexity region 1269 1278 N/A INTRINSIC
low complexity region 1302 1320 N/A INTRINSIC
low complexity region 1354 1365 N/A INTRINSIC
low complexity region 1371 1391 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124467
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125003
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136128
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138327
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153513
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149584
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143998
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204377
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.6%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This function of this gene has yet to be determined but mutations in this gene have been associated with autosomal dominant mental retardation-23. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2014]
Allele List at MGI
Other mutations in this stock
Total: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl6b T C 5: 137,567,640 (GRCm39) C425R probably damaging Het
Adam15 A G 3: 89,257,137 (GRCm39) S20P probably damaging Het
Adgra3 G A 5: 50,118,479 (GRCm39) T1023I probably benign Het
Angel2 T A 1: 190,671,285 (GRCm39) V46E probably damaging Het
Ankrd13c T A 3: 157,697,358 (GRCm39) M321K probably damaging Het
Atad2b C T 12: 4,992,018 (GRCm39) R206* probably null Het
Atp10b T A 11: 43,088,351 (GRCm39) F319Y probably benign Het
AW554918 A G 18: 25,533,161 (GRCm39) R272G probably damaging Het
Bpi T A 2: 158,103,065 (GRCm39) I70N probably damaging Het
Brca1 T C 11: 101,415,521 (GRCm39) D871G probably damaging Het
Capn3 G A 2: 120,312,689 (GRCm39) A160T probably damaging Het
Cenpe T C 3: 134,952,663 (GRCm39) L1451P possibly damaging Het
Chmp7 A G 14: 69,969,937 (GRCm39) M1T probably null Het
Csrnp1 G C 9: 119,802,612 (GRCm39) Q200E possibly damaging Het
Dscam G A 16: 96,621,074 (GRCm39) P545S probably damaging Het
Erap1 A G 13: 74,794,662 (GRCm39) E107G probably benign Het
Errfi1 A G 4: 150,949,843 (GRCm39) I49V probably benign Het
Fam171b T C 2: 83,710,533 (GRCm39) L735S probably damaging Het
Fancm T A 12: 65,139,264 (GRCm39) probably null Het
Fbp2 G C 13: 62,984,973 (GRCm39) P316R probably damaging Het
Fcer2a C A 8: 3,732,976 (GRCm39) G255V probably damaging Het
Fhip2a T A 19: 57,374,737 (GRCm39) I704N probably damaging Het
Fzd2 T C 11: 102,496,134 (GRCm39) S193P probably benign Het
Gak A G 5: 108,772,059 (GRCm39) V86A probably damaging Het
Gas2l3 A G 10: 89,269,631 (GRCm39) I7T probably benign Het
Gbp11 T C 5: 105,475,355 (GRCm39) H331R probably damaging Het
Gpr19 C T 6: 134,846,961 (GRCm39) V241M probably damaging Het
Grk6 G A 13: 55,606,612 (GRCm39) A437T probably damaging Het
Hip1 T C 5: 135,473,634 (GRCm39) D253G probably damaging Het
Ifna9 G C 4: 88,510,409 (GRCm39) Q72E possibly damaging Het
Il1r1 A G 1: 40,351,521 (GRCm39) T384A probably benign Het
Ip6k1 C A 9: 107,922,761 (GRCm39) C221* probably null Het
Kcna1 C A 6: 126,619,494 (GRCm39) E275D probably benign Het
Kcnt2 C T 1: 140,411,970 (GRCm39) Q468* probably null Het
Kin T C 2: 10,097,150 (GRCm39) V333A probably damaging Het
Leprot G T 4: 101,513,484 (GRCm39) V91L probably benign Het
Mettl21c A G 1: 44,056,344 (GRCm39) probably null Het
Myom2 T C 8: 15,172,384 (GRCm39) F1161S probably damaging Het
Ndor1 A G 2: 25,138,921 (GRCm39) L321P probably benign Het
Nipal2 A T 15: 34,625,168 (GRCm39) *72K probably null Het
Nol3 T C 8: 106,005,858 (GRCm39) V84A probably benign Het
Or2y16 C T 11: 49,334,732 (GRCm39) S18L probably benign Het
Or4c101 A T 2: 88,389,827 (GRCm39) I5F probably benign Het
Or8b42 T C 9: 38,341,620 (GRCm39) I14T probably damaging Het
Pcare A G 17: 72,056,473 (GRCm39) V1068A probably benign Het
Pdgfra T A 5: 75,349,671 (GRCm39) probably null Het
Pik3cb T C 9: 98,936,026 (GRCm39) D802G probably damaging Het
Plac8l1 A T 18: 42,311,996 (GRCm39) V141E probably damaging Het
Plxnb2 A G 15: 89,051,395 (GRCm39) S275P probably benign Het
Prl3b1 G A 13: 27,427,848 (GRCm39) A53T probably benign Het
Rapgef6 T A 11: 54,552,009 (GRCm39) I959K probably damaging Het
Scn5a T C 9: 119,324,628 (GRCm39) K1400R probably damaging Het
Sel1l A G 12: 91,793,458 (GRCm39) S263P probably damaging Het
Slc34a1 A G 13: 24,003,052 (GRCm39) D234G probably damaging Het
Spink5 T A 18: 44,148,738 (GRCm39) S934T probably damaging Het
St18 A C 1: 6,915,793 (GRCm39) probably null Het
St3gal4 T C 9: 34,963,592 (GRCm39) I239V probably benign Het
Stag3 C T 5: 138,295,674 (GRCm39) T399I probably damaging Het
Syt11 T C 3: 88,669,674 (GRCm39) K6E probably damaging Het
Taf15 T C 11: 83,378,122 (GRCm39) Y121H possibly damaging Het
Tdh T C 14: 63,733,504 (GRCm39) Y113C probably damaging Het
Tgfbr1 T A 4: 47,410,688 (GRCm39) W406R probably damaging Het
Tgm6 A G 2: 129,993,202 (GRCm39) I563V possibly damaging Het
Tmem131 A G 1: 36,866,090 (GRCm39) probably null Het
Tmub2 T C 11: 102,178,312 (GRCm39) S72P probably benign Het
Trappc13 G A 13: 104,286,651 (GRCm39) T202I probably damaging Het
Trim9 T C 12: 70,319,202 (GRCm39) E449G probably damaging Het
Trip11 C A 12: 101,879,026 (GRCm39) G21V unknown Het
Ttll12 G A 15: 83,472,856 (GRCm39) R127C probably damaging Het
Vmn2r125 A T 4: 156,703,447 (GRCm39) Y275F probably damaging Het
Xrcc5 A G 1: 72,369,103 (GRCm39) D319G probably damaging Het
Zc3h14 T G 12: 98,751,262 (GRCm39) C159W probably damaging Het
Zc3h7b C T 15: 81,661,289 (GRCm39) P376L probably benign Het
Zfhx3 C T 8: 109,675,121 (GRCm39) P2057L probably damaging Het
Other mutations in Setd5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00816:Setd5 APN 6 113,088,375 (GRCm39) missense probably damaging 1.00
IGL02102:Setd5 APN 6 113,127,946 (GRCm39) nonsense probably null
IGL02105:Setd5 APN 6 113,094,541 (GRCm39) missense probably damaging 1.00
IGL02202:Setd5 APN 6 113,127,976 (GRCm39) missense probably benign 0.01
IGL02221:Setd5 APN 6 113,098,131 (GRCm39) splice site probably benign
IGL02382:Setd5 APN 6 113,120,601 (GRCm39) missense probably benign
IGL02394:Setd5 APN 6 113,087,859 (GRCm39) missense probably benign 0.00
IGL02442:Setd5 APN 6 113,087,341 (GRCm39) missense possibly damaging 0.93
IGL02480:Setd5 APN 6 113,120,770 (GRCm39) missense probably damaging 1.00
IGL02940:Setd5 APN 6 113,091,899 (GRCm39) missense possibly damaging 0.92
R0320:Setd5 UTSW 6 113,088,442 (GRCm39) missense probably damaging 1.00
R0479:Setd5 UTSW 6 113,091,994 (GRCm39) missense probably damaging 1.00
R0514:Setd5 UTSW 6 113,096,398 (GRCm39) nonsense probably null
R1528:Setd5 UTSW 6 113,098,699 (GRCm39) missense probably damaging 0.99
R2176:Setd5 UTSW 6 113,128,114 (GRCm39) missense probably benign 0.23
R2191:Setd5 UTSW 6 113,088,390 (GRCm39) nonsense probably null
R2286:Setd5 UTSW 6 113,096,571 (GRCm39) missense possibly damaging 0.69
R4163:Setd5 UTSW 6 113,096,545 (GRCm39) missense probably benign
R4294:Setd5 UTSW 6 113,088,281 (GRCm39) intron probably benign
R4300:Setd5 UTSW 6 113,127,123 (GRCm39) missense probably damaging 1.00
R4342:Setd5 UTSW 6 113,088,281 (GRCm39) intron probably benign
R4370:Setd5 UTSW 6 113,098,766 (GRCm39) missense probably damaging 1.00
R4854:Setd5 UTSW 6 113,128,360 (GRCm39) missense probably damaging 1.00
R4858:Setd5 UTSW 6 113,126,527 (GRCm39) missense probably damaging 1.00
R5057:Setd5 UTSW 6 113,114,922 (GRCm39) missense probably damaging 0.96
R5345:Setd5 UTSW 6 113,092,968 (GRCm39) missense probably damaging 1.00
R5529:Setd5 UTSW 6 113,098,529 (GRCm39) missense probably damaging 1.00
R5556:Setd5 UTSW 6 113,124,463 (GRCm39) missense probably benign 0.00
R5582:Setd5 UTSW 6 113,091,886 (GRCm39) missense probably damaging 1.00
R5838:Setd5 UTSW 6 113,096,396 (GRCm39) missense probably benign 0.40
R5941:Setd5 UTSW 6 113,105,451 (GRCm39) missense probably damaging 1.00
R6009:Setd5 UTSW 6 113,087,480 (GRCm39) missense probably damaging 0.99
R6146:Setd5 UTSW 6 113,098,773 (GRCm39) critical splice donor site probably null
R6394:Setd5 UTSW 6 113,092,505 (GRCm39) missense probably damaging 1.00
R6694:Setd5 UTSW 6 113,120,669 (GRCm39) missense probably benign
R7058:Setd5 UTSW 6 113,092,532 (GRCm39) missense probably benign 0.16
R7060:Setd5 UTSW 6 113,094,343 (GRCm39) missense probably damaging 1.00
R7199:Setd5 UTSW 6 113,098,099 (GRCm39) missense probably benign 0.03
R7238:Setd5 UTSW 6 113,098,091 (GRCm39) missense probably damaging 1.00
R7296:Setd5 UTSW 6 113,124,518 (GRCm39) missense probably benign 0.21
R7438:Setd5 UTSW 6 113,092,043 (GRCm39) missense possibly damaging 0.74
R7515:Setd5 UTSW 6 113,087,850 (GRCm39) missense probably damaging 1.00
R7621:Setd5 UTSW 6 113,121,010 (GRCm39) missense possibly damaging 0.85
R7652:Setd5 UTSW 6 113,098,725 (GRCm39) missense probably damaging 1.00
R7986:Setd5 UTSW 6 113,105,418 (GRCm39) missense probably benign 0.00
R8083:Setd5 UTSW 6 113,091,971 (GRCm39) missense probably damaging 1.00
R8175:Setd5 UTSW 6 113,091,874 (GRCm39) missense probably damaging 1.00
R8252:Setd5 UTSW 6 113,127,916 (GRCm39) missense probably benign 0.01
R8268:Setd5 UTSW 6 113,126,651 (GRCm39) critical splice donor site probably null
R8271:Setd5 UTSW 6 113,092,031 (GRCm39) missense possibly damaging 0.58
R8424:Setd5 UTSW 6 113,126,644 (GRCm39) missense probably benign 0.12
R8508:Setd5 UTSW 6 113,098,048 (GRCm39) missense probably damaging 1.00
R8801:Setd5 UTSW 6 113,127,853 (GRCm39) missense possibly damaging 0.95
R8864:Setd5 UTSW 6 113,088,469 (GRCm39) missense probably damaging 1.00
R9227:Setd5 UTSW 6 113,098,755 (GRCm39) missense possibly damaging 0.92
R9522:Setd5 UTSW 6 113,091,995 (GRCm39) missense probably damaging 1.00
R9588:Setd5 UTSW 6 113,121,025 (GRCm39) missense probably damaging 1.00
R9660:Setd5 UTSW 6 113,128,366 (GRCm39) missense probably benign 0.13
R9711:Setd5 UTSW 6 113,093,063 (GRCm39) missense probably damaging 1.00
R9728:Setd5 UTSW 6 113,128,366 (GRCm39) missense probably benign 0.13
X0017:Setd5 UTSW 6 113,127,129 (GRCm39) missense probably null 1.00
Z1176:Setd5 UTSW 6 113,115,057 (GRCm39) missense probably benign
Z1191:Setd5 UTSW 6 113,091,957 (GRCm39) missense probably benign 0.04
Predicted Primers PCR Primer
(F):5'- GCCTTGAGACATCTGCCTGTACTG -3'
(R):5'- AAGGGGCAACTTCGTCATGCTG -3'

Sequencing Primer
(F):5'- CTGGCTTCATGTTACACACAAATC -3'
(R):5'- CAACTTCGTCATGCTGCATATAAAC -3'
Posted On 2014-04-13