Incidental Mutation 'R5529:Setd5'
ID 501084
Institutional Source Beutler Lab
Gene Symbol Setd5
Ensembl Gene ENSMUSG00000034269
Gene Name SET domain containing 5
Synonyms 2900045N06Rik
MMRRC Submission 043087-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5529 (G1)
Quality Score 216
Status Not validated
Chromosome 6
Chromosomal Location 113054326-113130393 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 113098529 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 721 (Y721H)
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: Y702H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000047398
Gene: ENSMUSG00000034269
AA Change: Y702H

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: Y721H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108780
Gene: ENSMUSG00000034269
AA Change: Y721H

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: Y721H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108782
Gene: ENSMUSG00000034269
AA Change: Y721H

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: Y779H
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141072
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153513
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149584
Coding Region Coverage
  • 1x: 98.7%
  • 3x: 97.5%
  • 10x: 95.7%
  • 20x: 92.5%
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T C 1: 71,304,040 (GRCm39) Y2079C probably damaging Het
Alg2 T C 4: 47,472,101 (GRCm39) R236G probably damaging Het
Alpl T A 4: 137,473,733 (GRCm39) N323I probably damaging Het
Anxa3 A G 5: 96,976,238 (GRCm39) E172G probably benign Het
Atp8a2 A G 14: 60,031,314 (GRCm39) probably null Het
Cadps T C 14: 12,454,285 (GRCm38) K1078E probably damaging Het
Ccn5 T C 2: 163,667,279 (GRCm39) probably null Het
Ces2e G T 8: 105,656,543 (GRCm39) V258L probably benign Het
Daam2 A G 17: 49,766,085 (GRCm39) F1041S probably benign Het
Dcstamp A G 15: 39,617,932 (GRCm39) I114V probably benign Het
Ddhd2 C T 8: 26,229,587 (GRCm39) R496Q probably benign Het
Dnhd1 G A 7: 105,352,416 (GRCm39) R2523Q probably damaging Het
Eml6 T A 11: 29,714,126 (GRCm39) R1335S probably benign Het
F12 T C 13: 55,569,872 (GRCm39) N102S probably benign Het
Fbn1 G A 2: 125,215,870 (GRCm39) L712F probably benign Het
Fgf1 G T 18: 38,991,657 (GRCm39) F37L probably damaging Het
Fgf14 T A 14: 124,217,867 (GRCm39) H212L probably damaging Het
Gm10036 A T 18: 15,965,858 (GRCm39) Q3L probably benign Het
Hivep1 T C 13: 42,310,126 (GRCm39) F789L possibly damaging Het
Hspg2 C A 4: 137,279,139 (GRCm39) T3074N probably damaging Het
Katnb1 C T 8: 95,824,300 (GRCm39) R495C probably damaging Het
Kdm5b C T 1: 134,515,741 (GRCm39) H122Y probably damaging Het
Ky C T 9: 102,419,274 (GRCm39) S427L probably benign Het
Med9 T G 11: 59,851,486 (GRCm39) V105G probably benign Het
Ndufa11 T A 17: 57,028,059 (GRCm39) V43D probably damaging Het
Nlrp4b T A 7: 10,448,873 (GRCm39) C359S possibly damaging Het
Or12k8 T A 2: 36,974,921 (GRCm39) I280F possibly damaging Het
Or51e1 A T 7: 102,358,900 (GRCm39) K145* probably null Het
Paxbp1 T A 16: 90,827,401 (GRCm39) Y478F possibly damaging Het
Pole G A 5: 110,480,332 (GRCm39) E92K probably benign Het
Prom1 G T 5: 44,184,110 (GRCm39) L449M probably damaging Het
Psg28 G A 7: 18,164,373 (GRCm39) T113I probably benign Het
Reln A C 5: 22,137,713 (GRCm39) V2493G possibly damaging Het
Rp1 C T 1: 4,416,055 (GRCm39) V1686I probably benign Het
Setbp1 T C 18: 79,129,867 (GRCm39) I122V probably damaging Het
Shroom1 T C 11: 53,354,749 (GRCm39) F223S probably damaging Het
Son T A 16: 91,452,354 (GRCm39) L367Q probably damaging Het
Spred2 G T 11: 19,971,301 (GRCm39) D363Y probably damaging Het
Tbc1d8 T G 1: 39,411,836 (GRCm39) Y1000S probably benign Het
Tdp2 A T 13: 25,022,219 (GRCm39) K213* probably null Het
Tmem89 T C 9: 108,744,545 (GRCm39) I146T probably damaging Het
Vhl T C 6: 113,606,424 (GRCm39) V147A probably benign Het
Vmn2r23 C T 6: 123,690,410 (GRCm39) L429F probably benign Het
Vrk2 T C 11: 26,449,036 (GRCm39) D186G probably damaging Het
Zbtb40 A G 4: 136,710,474 (GRCm39) F1222L possibly damaging Het
Zfp266 A G 9: 20,418,030 (GRCm39) S7P probably damaging Het
Zfp472 T A 17: 33,197,407 (GRCm39) I494K possibly damaging Het
Zfp655 A G 5: 145,181,546 (GRCm39) E468G 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
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
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
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'- GCTGGAAGCTGAAACCATCC -3'
(R):5'- CCAAAGCGAATGTAGTGTTTGG -3'

Sequencing Primer
(F):5'- ATCTGTCTTTGTGAGCATGGAAAATG -3'
(R):5'- TGGGGGTGGTACAAATTAATGG -3'
Posted On 2017-12-01