Incidental Mutation 'R2191:Setd5'
ID 238099
Institutional Source Beutler Lab
Gene Symbol Setd5
Ensembl Gene ENSMUSG00000034269
Gene Name SET domain containing 5
Synonyms 2900045N06Rik
MMRRC Submission 040193-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2191 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 113077365-113153435 bp(+) (GRCm38)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 113111429 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 173 (Q173*)
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: Q154*
SMART Domains Protein: ENSMUSP00000047398
Gene: ENSMUSG00000034269
AA Change: Q154*

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: Q173*
SMART Domains Protein: ENSMUSP00000108780
Gene: ENSMUSG00000034269
AA Change: Q173*

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: Q173*
SMART Domains Protein: ENSMUSP00000108782
Gene: ENSMUSG00000034269
AA Change: Q173*

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: ENSMUST00000143998
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149584
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153513
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204377
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.7%
  • 20x: 96.1%
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass A G 6: 23,078,866 (GRCm38) S716P possibly damaging Het
Abcb5 A C 12: 118,867,956 (GRCm38) N1220K probably damaging Het
Acsl3 A T 1: 78,699,140 (GRCm38) E479D probably damaging Het
Actn1 A T 12: 80,171,802 (GRCm38) L736* probably null Het
Adcyap1 A G 17: 93,200,026 (GRCm38) S5G possibly damaging Het
Adgrv1 T C 13: 81,566,290 (GRCm38) N958S possibly damaging Het
Armc1 T A 3: 19,134,061 (GRCm38) N274Y probably damaging Het
Atp9b G A 18: 80,753,051 (GRCm38) R926W probably damaging Het
Cacna1e G T 1: 154,443,845 (GRCm38) Q1370K probably damaging Het
Cdip1 C T 16: 4,770,063 (GRCm38) S12N probably benign Het
Chrna3 T A 9: 55,016,045 (GRCm38) I160F probably damaging Het
Cnot1 A G 8: 95,761,426 (GRCm38) I534T probably damaging Het
Cr2 T A 1: 195,163,381 (GRCm38) I465F possibly damaging Het
Daw1 A G 1: 83,192,663 (GRCm38) D232G probably benign Het
Dcaf6 T C 1: 165,422,864 (GRCm38) T144A probably benign Het
Dhx30 A T 9: 110,086,118 (GRCm38) probably null Het
Dnah7a A G 1: 53,605,875 (GRCm38) S1001P possibly damaging Het
Dnajb9 T C 12: 44,207,073 (GRCm38) T184A probably benign Het
Dsg1b T C 18: 20,409,618 (GRCm38) *1061Q probably null Het
Dvl1 G A 4: 155,847,816 (GRCm38) V28I possibly damaging Het
Edem3 T A 1: 151,796,883 (GRCm38) V450D probably damaging Het
Ephb6 G T 6: 41,616,085 (GRCm38) R419L possibly damaging Het
Fbxo10 G C 4: 45,044,811 (GRCm38) P608R probably damaging Het
Flrt1 A G 19: 7,095,829 (GRCm38) I451T probably damaging Het
Gm6309 A T 5: 146,168,871 (GRCm38) V161E possibly damaging Het
Heatr5b A G 17: 78,773,677 (GRCm38) L1382P probably damaging Het
Igsf1 C A X: 49,783,150 (GRCm38) L714F probably damaging Het
Inpp4b C T 8: 81,997,302 (GRCm38) P488S probably damaging Het
Ints6l T A X: 56,504,750 (GRCm38) H678Q probably benign Het
Itprid1 A T 6: 55,967,719 (GRCm38) Q475L probably benign Het
Kdm2a A T 19: 4,356,931 (GRCm38) probably null Het
Khdrbs3 G T 15: 69,092,960 (GRCm38) V249F probably damaging Het
Kmt2d A T 15: 98,861,049 (GRCm38) probably null Het
Laptm4a T C 12: 8,922,296 (GRCm38) probably null Het
Lrp2bp C T 8: 46,013,169 (GRCm38) T105I probably benign Het
Lrrc37 A C 11: 103,618,967 (GRCm38) probably benign Het
Lsmem1 GTACATACATACATACATACATACATACA GTACATACATACATACATACATACATACATACA 12: 40,185,261 (GRCm38) probably null Het
Mtmr3 A T 11: 4,499,032 (GRCm38) W244R probably damaging Het
Myo18a A G 11: 77,818,615 (GRCm38) D138G probably damaging Het
Nlrp9b A T 7: 20,023,662 (GRCm38) I275L probably benign Het
Nol6 C T 4: 41,118,720 (GRCm38) R719H probably benign Het
Omt2b G A 9: 78,328,175 (GRCm38) probably benign Het
Or2a54 T C 6: 43,116,065 (GRCm38) S108P probably benign Het
Or5h23 A T 16: 59,085,675 (GRCm38) D269E probably benign Het
Or8g23 A T 9: 39,060,405 (GRCm38) I87K probably benign Het
Pclo C T 5: 14,713,848 (GRCm38) L4112F unknown Het
Pglyrp2 T C 17: 32,415,957 (GRCm38) N477S probably benign Het
Phf20 T C 2: 156,276,654 (GRCm38) V426A probably benign Het
Pla2g4e CTT CTTT 2: 120,191,199 (GRCm38) probably null Het
Plagl1 A C 10: 13,128,941 (GRCm38) probably benign Het
Ppip5k2 A G 1: 97,744,110 (GRCm38) V479A probably damaging Het
Prkdc A C 16: 15,698,824 (GRCm38) T1021P probably damaging Het
Rdh7 C T 10: 127,888,598 (GRCm38) V6I probably benign Het
Rictor A T 15: 6,759,614 (GRCm38) H237L probably benign Het
Rsf1 GCG GCGACGGCGACG 7: 97,579,907 (GRCm38) probably benign Het
Rttn T C 18: 89,095,648 (GRCm38) probably null Het
Sipa1l1 T A 12: 82,396,691 (GRCm38) Y918* probably null Het
Slc13a1 T G 6: 24,134,397 (GRCm38) E162D possibly damaging Het
Slc39a9 G A 12: 80,662,527 (GRCm38) A52T probably damaging Het
Srebf1 T C 11: 60,220,539 (GRCm38) D2G probably damaging Het
Stab1 A T 14: 31,142,800 (GRCm38) M66K probably benign Het
Stab1 T C 14: 31,159,270 (GRCm38) N601S probably damaging Het
Sv2b C T 7: 75,124,088 (GRCm38) G545D probably damaging Het
Syt5 G A 7: 4,543,089 (GRCm38) Q101* probably null Het
Thada A G 17: 84,446,521 (GRCm38) F341L probably benign Het
Tln2 T G 9: 67,355,221 (GRCm38) I585L probably damaging Het
Tmem67 C G 4: 12,069,413 (GRCm38) probably null Het
Tonsl G T 15: 76,632,680 (GRCm38) L917M probably damaging Het
Ttk A G 9: 83,862,183 (GRCm38) K519E probably damaging Het
Ttn T C 2: 76,707,134 (GRCm38) T34817A probably benign Het
Ubr1 A T 2: 120,926,047 (GRCm38) S700T probably damaging Het
Unc13b C A 4: 43,245,566 (GRCm38) C1312* probably null Het
Usp36 A G 11: 118,285,023 (GRCm38) L104P possibly damaging Het
Vmn1r216 T C 13: 23,099,233 (GRCm38) F29L probably benign Het
Vmn1r225 T C 17: 20,502,885 (GRCm38) I196T probably damaging Het
Vmn1r50 T C 6: 90,108,139 (GRCm38) F289L probably benign Het
Ythdf3 T C 3: 16,203,211 (GRCm38) probably benign Het
Zfp507 T A 7: 35,794,843 (GRCm38) K258N probably damaging Het
Zscan5b A G 7: 6,231,443 (GRCm38) H156R possibly damaging Het
Other mutations in Setd5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00816:Setd5 APN 6 113,111,414 (GRCm38) missense probably damaging 1.00
IGL02102:Setd5 APN 6 113,150,985 (GRCm38) nonsense probably null
IGL02105:Setd5 APN 6 113,117,580 (GRCm38) missense probably damaging 1.00
IGL02202:Setd5 APN 6 113,151,015 (GRCm38) missense probably benign 0.01
IGL02221:Setd5 APN 6 113,121,170 (GRCm38) splice site probably benign
IGL02382:Setd5 APN 6 113,143,640 (GRCm38) missense probably benign
IGL02394:Setd5 APN 6 113,110,898 (GRCm38) missense probably benign 0.00
IGL02442:Setd5 APN 6 113,110,380 (GRCm38) missense possibly damaging 0.93
IGL02480:Setd5 APN 6 113,143,809 (GRCm38) missense probably damaging 1.00
IGL02940:Setd5 APN 6 113,114,938 (GRCm38) missense possibly damaging 0.92
R0320:Setd5 UTSW 6 113,111,481 (GRCm38) missense probably damaging 1.00
R0479:Setd5 UTSW 6 113,115,033 (GRCm38) missense probably damaging 1.00
R0514:Setd5 UTSW 6 113,119,437 (GRCm38) nonsense probably null
R1528:Setd5 UTSW 6 113,121,738 (GRCm38) missense probably damaging 0.99
R1530:Setd5 UTSW 6 113,109,913 (GRCm38) missense probably damaging 1.00
R2176:Setd5 UTSW 6 113,151,153 (GRCm38) missense probably benign 0.23
R2286:Setd5 UTSW 6 113,119,610 (GRCm38) missense possibly damaging 0.69
R4163:Setd5 UTSW 6 113,119,584 (GRCm38) missense probably benign
R4294:Setd5 UTSW 6 113,111,320 (GRCm38) intron probably benign
R4300:Setd5 UTSW 6 113,150,162 (GRCm38) missense probably damaging 1.00
R4342:Setd5 UTSW 6 113,111,320 (GRCm38) intron probably benign
R4370:Setd5 UTSW 6 113,121,805 (GRCm38) missense probably damaging 1.00
R4854:Setd5 UTSW 6 113,151,399 (GRCm38) missense probably damaging 1.00
R4858:Setd5 UTSW 6 113,149,566 (GRCm38) missense probably damaging 1.00
R5057:Setd5 UTSW 6 113,137,961 (GRCm38) missense probably damaging 0.96
R5345:Setd5 UTSW 6 113,116,007 (GRCm38) missense probably damaging 1.00
R5529:Setd5 UTSW 6 113,121,568 (GRCm38) missense probably damaging 1.00
R5556:Setd5 UTSW 6 113,147,502 (GRCm38) missense probably benign 0.00
R5582:Setd5 UTSW 6 113,114,925 (GRCm38) missense probably damaging 1.00
R5838:Setd5 UTSW 6 113,119,435 (GRCm38) missense probably benign 0.40
R5941:Setd5 UTSW 6 113,128,490 (GRCm38) missense probably damaging 1.00
R6009:Setd5 UTSW 6 113,110,519 (GRCm38) missense probably damaging 0.99
R6146:Setd5 UTSW 6 113,121,812 (GRCm38) critical splice donor site probably null
R6394:Setd5 UTSW 6 113,115,544 (GRCm38) missense probably damaging 1.00
R6694:Setd5 UTSW 6 113,143,708 (GRCm38) missense probably benign
R7058:Setd5 UTSW 6 113,115,571 (GRCm38) missense probably benign 0.16
R7060:Setd5 UTSW 6 113,117,382 (GRCm38) missense probably damaging 1.00
R7199:Setd5 UTSW 6 113,121,138 (GRCm38) missense probably benign 0.03
R7238:Setd5 UTSW 6 113,121,130 (GRCm38) missense probably damaging 1.00
R7296:Setd5 UTSW 6 113,147,557 (GRCm38) missense probably benign 0.21
R7438:Setd5 UTSW 6 113,115,082 (GRCm38) missense possibly damaging 0.74
R7515:Setd5 UTSW 6 113,110,889 (GRCm38) missense probably damaging 1.00
R7621:Setd5 UTSW 6 113,144,049 (GRCm38) missense possibly damaging 0.85
R7652:Setd5 UTSW 6 113,121,764 (GRCm38) missense probably damaging 1.00
R7986:Setd5 UTSW 6 113,128,457 (GRCm38) missense probably benign 0.00
R8083:Setd5 UTSW 6 113,115,010 (GRCm38) missense probably damaging 1.00
R8175:Setd5 UTSW 6 113,114,913 (GRCm38) missense probably damaging 1.00
R8252:Setd5 UTSW 6 113,150,955 (GRCm38) missense probably benign 0.01
R8268:Setd5 UTSW 6 113,149,690 (GRCm38) critical splice donor site probably null
R8271:Setd5 UTSW 6 113,115,070 (GRCm38) missense possibly damaging 0.58
R8424:Setd5 UTSW 6 113,149,683 (GRCm38) missense probably benign 0.12
R8508:Setd5 UTSW 6 113,121,087 (GRCm38) missense probably damaging 1.00
R8801:Setd5 UTSW 6 113,150,892 (GRCm38) missense possibly damaging 0.95
R8864:Setd5 UTSW 6 113,111,508 (GRCm38) missense probably damaging 1.00
R9227:Setd5 UTSW 6 113,121,794 (GRCm38) missense possibly damaging 0.92
R9522:Setd5 UTSW 6 113,115,034 (GRCm38) missense probably damaging 1.00
R9588:Setd5 UTSW 6 113,144,064 (GRCm38) missense probably damaging 1.00
R9660:Setd5 UTSW 6 113,151,405 (GRCm38) missense probably benign 0.13
R9711:Setd5 UTSW 6 113,116,102 (GRCm38) missense probably damaging 1.00
R9728:Setd5 UTSW 6 113,151,405 (GRCm38) missense probably benign 0.13
X0017:Setd5 UTSW 6 113,150,168 (GRCm38) missense probably null 1.00
Z1176:Setd5 UTSW 6 113,138,096 (GRCm38) missense probably benign
Z1191:Setd5 UTSW 6 113,114,996 (GRCm38) missense probably benign 0.04
Predicted Primers PCR Primer
(F):5'- ATCTTGTTTTCAGAAGAAAGGTGGG -3'
(R):5'- AACTGAGCCTGTGGTGATGG -3'

Sequencing Primer
(F):5'- TTTCAGAAGAAAGGTGGGGGTCTATG -3'
(R):5'- TACGAAGGTTAGAAGAGAGTTTGTTC -3'
Posted On 2014-10-02