Incidental Mutation 'R4163:Setd5'
ID 321603
Institutional Source Beutler Lab
Gene Symbol Setd5
Ensembl Gene ENSMUSG00000034269
Gene Name SET domain containing 5
Synonyms 2900045N06Rik
MMRRC Submission 041006-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4163 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 113054326-113130393 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 113096545 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 584 (S584P)
Ref Sequence ENSEMBL: ENSMUSP00000108782 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042889] [ENSMUST00000113155] [ENSMUST00000113157]
AlphaFold Q5XJV7
Predicted Effect probably benign
Transcript: ENSMUST00000042889
AA Change: S565P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000047398
Gene: ENSMUSG00000034269
AA Change: S565P

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 benign
Transcript: ENSMUST00000113155
AA Change: S584P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000108780
Gene: ENSMUSG00000034269
AA Change: S584P

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 benign
Transcript: ENSMUST00000113157
AA Change: S584P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000108782
Gene: ENSMUSG00000034269
AA Change: S584P

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: ENSMUST00000138327
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142215
AA Change: S642P
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141072
AA Change: S807P
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153513
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149584
Meta Mutation Damage Score 0.0593 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 100% (59/59)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930555F03Rik G A 8: 49,948,531 (GRCm39) noncoding transcript Het
Abca8a C T 11: 109,941,808 (GRCm39) D1154N probably benign Het
Adgrf4 A G 17: 42,978,477 (GRCm39) F289L probably benign Het
Alkbh2 A G 5: 114,265,613 (GRCm39) L63S probably damaging Het
Atp13a4 A T 16: 29,360,068 (GRCm39) N19K possibly damaging Het
Birc6 T A 17: 74,933,975 (GRCm39) Y2544N probably damaging Het
Bnip5 T C 17: 29,118,503 (GRCm39) Y643C probably benign Het
Bpifa3 A G 2: 153,977,516 (GRCm39) N118S probably damaging Het
Chst10 T A 1: 38,910,904 (GRCm39) M87L probably benign Het
Cnot9 C T 1: 74,568,006 (GRCm39) P298L probably damaging Het
Cops5 T C 1: 10,100,912 (GRCm39) Y228C probably damaging Het
Dcaf8 T G 1: 172,020,137 (GRCm39) L492R probably damaging Het
Dis3l2 A G 1: 86,748,959 (GRCm39) S128G probably benign Het
Dock1 A G 7: 134,346,051 (GRCm39) R198G possibly damaging Het
Elovl7 T A 13: 108,403,904 (GRCm39) M82K possibly damaging Het
Entrep1 G A 19: 23,952,993 (GRCm39) A439V probably damaging Het
Entrep1 C T 19: 23,953,002 (GRCm39) S436N probably damaging Het
Fcgr2b T C 1: 170,791,016 (GRCm39) D259G possibly damaging Het
Flnb A T 14: 7,915,374 (GRCm38) I1502F possibly damaging Het
Frk C T 10: 34,467,868 (GRCm39) P294L probably damaging Het
Gkn3 C T 6: 87,360,507 (GRCm39) A163T probably damaging Het
Gm128 C A 3: 95,147,802 (GRCm39) R164L probably benign Het
Gm2223 C T X: 32,943,247 (GRCm39) noncoding transcript Het
Hexd C A 11: 121,111,975 (GRCm39) A423E probably benign Het
Itgax G T 7: 127,743,872 (GRCm39) V878F probably benign Het
Kank2 A T 9: 21,706,864 (GRCm39) D51E probably damaging Het
Kcna4 G C 2: 107,126,151 (GRCm39) W295S probably damaging Het
Mfsd12 A G 10: 81,196,931 (GRCm39) probably null Het
Mis12 A G 11: 70,916,482 (GRCm39) T172A probably benign Het
Myo10 T A 15: 25,726,501 (GRCm39) probably null Het
Myo18a G T 11: 77,720,534 (GRCm39) R1103L possibly damaging Het
Nfix CAAAAA CAAAA 8: 85,442,876 (GRCm39) probably null Het
Ntrk2 T C 13: 59,008,054 (GRCm39) V272A probably damaging Het
Or2ag17 A T 7: 106,389,486 (GRCm39) C241S probably damaging Het
Or5p64 A T 7: 107,855,039 (GRCm39) I102N probably benign Het
Or7e165 A T 9: 19,695,086 (GRCm39) Y219F possibly damaging Het
Pcdh20 C T 14: 88,705,615 (GRCm39) D562N probably damaging Het
Prep T C 10: 44,943,436 (GRCm39) F4L probably benign Het
Prep G T 10: 44,943,458 (GRCm39) R11L possibly damaging Het
Ptgs1 C T 2: 36,141,346 (GRCm39) R598C possibly damaging Het
Rasgrp1 T C 2: 117,113,135 (GRCm39) D759G probably benign Het
Shank3 A G 15: 89,433,797 (GRCm39) D1514G probably damaging Het
Shox2 T C 3: 66,881,104 (GRCm39) probably benign Het
Slc44a5 A T 3: 153,967,010 (GRCm39) R565S possibly damaging Het
Slc7a5 A G 8: 122,615,139 (GRCm39) L236S probably benign Het
Slfn3 A T 11: 83,103,596 (GRCm39) I156F probably damaging Het
Spout1 C T 2: 30,067,589 (GRCm39) probably benign Het
Trim72 T C 7: 127,607,080 (GRCm39) V203A probably benign Het
Vrk2 T A 11: 26,497,915 (GRCm39) I90L probably benign Het
Zc3h12c A T 9: 52,026,999 (GRCm39) Y788N probably damaging Het
Zfp831 A G 2: 174,485,822 (GRCm39) T166A possibly 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
R1530:Setd5 UTSW 6 113,086,874 (GRCm39) missense probably damaging 1.00
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
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'- TGAAATAGCTTCTGGTTGATGC -3'
(R):5'- CCACAAACCAGCTGTTGAGATC -3'

Sequencing Primer
(F):5'- TTTTCTACCCCCAGACTCGAGAAG -3'
(R):5'- CCAGCTGTTGAGATCAAAATAGC -3'
Posted On 2015-06-12