Incidental Mutation 'R0514:Setd5'
ID 48097
Institutional Source Beutler Lab
Gene Symbol Setd5
Ensembl Gene ENSMUSG00000034269
Gene Name SET domain containing 5
Synonyms 2900045N06Rik
MMRRC Submission 038708-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0514 (G1)
Quality Score 215
Status Not validated
Chromosome 6
Chromosomal Location 113054326-113130393 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 113096398 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Stop codon at position 535 (E535*)
Ref Sequence ENSEMBL: ENSMUSP00000108782 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042889] [ENSMUST00000113155] [ENSMUST00000113157]
AlphaFold Q5XJV7
Predicted Effect probably null
Transcript: ENSMUST00000042889
AA Change: E516*
SMART Domains Protein: ENSMUSP00000047398
Gene: ENSMUSG00000034269
AA Change: E516*

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 null
Transcript: ENSMUST00000113155
AA Change: E535*
SMART Domains Protein: ENSMUSP00000108780
Gene: ENSMUSG00000034269
AA Change: E535*

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 null
Transcript: ENSMUST00000113157
AA Change: E535*
SMART Domains Protein: ENSMUSP00000108782
Gene: ENSMUSG00000034269
AA Change: E535*

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: ENSMUST00000149584
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153513
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.1%
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: 91 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp3 T A 9: 104,197,177 (GRCm39) Y154F probably damaging Het
Acsl6 A T 11: 54,241,406 (GRCm39) D579V probably damaging Het
Adamts18 C T 8: 114,465,401 (GRCm39) probably null Het
Adamts20 A T 15: 94,168,257 (GRCm39) V1882D probably damaging Het
Add3 A T 19: 53,225,274 (GRCm39) K465* probably null Het
Ago1 T G 4: 126,333,388 (GRCm39) I524L probably benign Het
Akr1c18 A G 13: 4,187,190 (GRCm39) M208T probably benign Het
Anapc1 C A 2: 128,474,575 (GRCm39) L1413F probably damaging Het
Arid4b A T 13: 14,358,902 (GRCm39) D646V probably damaging Het
Arnt2 T C 7: 83,954,067 (GRCm39) E261G probably benign Het
Bccip C T 7: 133,320,859 (GRCm39) T211I possibly damaging Het
Bsn T C 9: 108,002,981 (GRCm39) S475G probably benign Het
Cdh26 G A 2: 178,108,621 (GRCm39) probably null Het
Ceacam2 A G 7: 25,220,356 (GRCm39) F414S probably benign Het
Cep43 A G 17: 8,410,266 (GRCm39) N342S possibly damaging Het
Cfb T C 17: 35,079,874 (GRCm39) R172G probably damaging Het
Cntnap5b A C 1: 99,700,511 (GRCm39) T8P probably benign Het
Cpne9 A T 6: 113,266,974 (GRCm39) I136L probably damaging Het
Crtc1 A T 8: 70,855,079 (GRCm39) probably null Het
Dcdc2a A T 13: 25,303,369 (GRCm39) H300L probably benign Het
Dhdh C T 7: 45,138,130 (GRCm39) V20M probably benign Het
Dhx34 T C 7: 15,944,462 (GRCm39) Q584R probably benign Het
Dis3l2 A G 1: 86,974,814 (GRCm39) Y701C probably damaging Het
Dmrt2 T C 19: 25,653,019 (GRCm39) probably null Het
Dnah5 A G 15: 28,366,467 (GRCm39) T2727A probably damaging Het
Dop1a A G 9: 86,402,787 (GRCm39) E1329G probably damaging Het
Evpl A G 11: 116,114,117 (GRCm39) V1191A probably damaging Het
Fhl4 T C 10: 84,934,250 (GRCm39) D177G probably damaging Het
Gask1a A G 9: 121,807,418 (GRCm39) T521A possibly damaging Het
Heg1 A G 16: 33,547,126 (GRCm39) T662A possibly damaging Het
Ifih1 A G 2: 62,453,735 (GRCm39) probably null Het
Il13 T C 11: 53,523,345 (GRCm39) R87G possibly damaging Het
Kcnc3 T A 7: 44,245,352 (GRCm39) Y547* probably null Het
Krt81 C A 15: 101,361,508 (GRCm39) R24L possibly damaging Het
Lama1 G A 17: 68,071,693 (GRCm39) G860D probably benign Het
Lmo7 T C 14: 102,124,609 (GRCm39) L356P probably damaging Het
Lmo7 A T 14: 102,133,995 (GRCm39) K447I probably damaging Het
Lrp2bp A G 8: 46,464,995 (GRCm39) H38R probably damaging Het
Magi3 G A 3: 103,922,338 (GRCm39) P1460S probably damaging Het
Megf8 T A 7: 25,063,728 (GRCm39) C2695S possibly damaging Het
Mrgprb2 T G 7: 48,201,718 (GRCm39) S336R probably benign Het
Mrgprx2 C T 7: 48,132,712 (GRCm39) M1I probably null Het
Mug2 T C 6: 122,058,558 (GRCm39) L1320P probably damaging Het
Noxred1 A G 12: 87,273,838 (GRCm39) S68P probably benign Het
Or51f5 T A 7: 102,424,539 (GRCm39) H269Q probably benign Het
Or56b1b T A 7: 108,164,879 (GRCm39) Y41F probably damaging Het
Os9 C T 10: 126,955,508 (GRCm39) C123Y probably damaging Het
Ostf1 T A 19: 18,573,723 (GRCm39) T42S probably benign Het
Parg C A 14: 31,976,517 (GRCm39) T186K possibly damaging Het
Pcnx1 T A 12: 82,041,884 (GRCm39) M2172K probably benign Het
Pip4k2a A G 2: 18,850,747 (GRCm39) I360T probably damaging Het
Pkn2 T C 3: 142,516,219 (GRCm39) D568G possibly damaging Het
Plch2 A G 4: 155,083,343 (GRCm39) S431P probably damaging Het
Prl8a6 A T 13: 27,616,990 (GRCm39) C233* probably null Het
Prox1 G A 1: 189,893,653 (GRCm39) T264I probably damaging Het
Prr5 A G 15: 84,586,967 (GRCm39) N248S probably benign Het
Psip1 A C 4: 83,378,274 (GRCm39) S407R probably damaging Het
Rab32 A T 10: 10,426,640 (GRCm39) V102E probably damaging Het
Rap1gap2 T G 11: 74,279,680 (GRCm39) K687Q possibly damaging Het
Rbak A T 5: 143,159,169 (GRCm39) V628E probably damaging Het
Rnf148 T C 6: 23,654,792 (GRCm39) E68G possibly damaging Het
Rnf212 A T 5: 108,897,308 (GRCm39) S3T probably damaging Het
Rrad T G 8: 105,355,259 (GRCm39) I250L probably benign Het
Sall4 T C 2: 168,597,625 (GRCm39) H405R probably damaging Het
Scn9a T C 2: 66,314,022 (GRCm39) R1888G probably damaging Het
Slc20a1 C T 2: 129,041,811 (GRCm39) S58L probably damaging Het
Slc31a1 A G 4: 62,303,841 (GRCm39) probably benign Het
Slc38a11 G T 2: 65,147,209 (GRCm39) Q423K probably benign Het
Snrpd1 A T 18: 10,626,846 (GRCm39) T38S possibly damaging Het
Taar4 A G 10: 23,836,780 (GRCm39) D130G probably damaging Het
Tfb2m C T 1: 179,358,869 (GRCm39) R338H probably benign Het
Tm2d2 A G 8: 25,512,742 (GRCm39) I197V possibly damaging Het
Tmem132a C T 19: 10,836,355 (GRCm39) G725D probably damaging Het
Tmem67 T C 4: 12,089,317 (GRCm39) T38A probably benign Het
Tmprss15 A T 16: 78,765,155 (GRCm39) S816T probably benign Het
Tnfrsf11a A G 1: 105,754,717 (GRCm39) E263G probably damaging Het
Tnfrsf17 C T 16: 11,133,191 (GRCm39) L90F probably benign Het
Tpr A G 1: 150,278,024 (GRCm39) K117E possibly damaging Het
Trim43a C T 9: 88,466,389 (GRCm39) Q5* probably null Het
Ubn1 A T 16: 4,890,935 (GRCm39) D498V probably damaging Het
Vipr1 T A 9: 121,487,115 (GRCm39) C63S probably damaging Het
Vmn1r237 T A 17: 21,534,932 (GRCm39) H218Q possibly damaging Het
Vmn2r100 C A 17: 19,742,382 (GRCm39) P252Q possibly damaging Het
Vmn2r95 T C 17: 18,671,844 (GRCm39) V527A probably benign Het
Vmn2r97 A T 17: 19,134,734 (GRCm39) T51S probably benign Het
Vwa8 G A 14: 79,184,629 (GRCm39) V376I probably benign Het
Wdfy4 T A 14: 32,802,732 (GRCm39) T1838S probably benign Het
Zcwpw1 A T 5: 137,794,945 (GRCm39) E47V probably benign Het
Zeb2 T C 2: 44,892,659 (GRCm39) E130G possibly damaging Het
Zfp111 A G 7: 23,898,568 (GRCm39) Y348H probably damaging Het
Zfp53 T C 17: 21,729,271 (GRCm39) S435P 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
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
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'- GAAATTGCTTGTCGTTGCTTTATGCAC -3'
(R):5'- TGCTAACTTCAGACTCAGGGGCTG -3'

Sequencing Primer
(F):5'- AAATGTGTTGAGGTAGCTCACC -3'
(R):5'- GCAGTTTTTGTCTCTTCTCCAACTAC -3'
Posted On 2013-06-12