Incidental Mutation 'R5229:Gm15446'
ID 403654
Institutional Source Beutler Lab
Gene Symbol Gm15446
Ensembl Gene ENSMUSG00000090015
Gene Name predicted gene 15446
Synonyms
MMRRC Submission 042802-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.053) question?
Stock # R5229 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 110081429-110089576 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 110091036 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 429 (H429Q)
Ref Sequence ENSEMBL: ENSMUSP00000108163 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112544] [ENSMUST00000170826]
AlphaFold D3Z5Y8
Predicted Effect probably damaging
Transcript: ENSMUST00000112544
AA Change: H429Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108163
Gene: ENSMUSG00000090015
AA Change: H429Q

DomainStartEndE-ValueType
KRAB 4 60 1.74e-14 SMART
ZnF_C2H2 103 125 1.1e-2 SMART
ZnF_C2H2 131 153 1.67e-2 SMART
ZnF_C2H2 159 181 4.87e-4 SMART
ZnF_C2H2 187 209 3.39e-3 SMART
ZnF_C2H2 215 237 1.76e-1 SMART
ZnF_C2H2 243 265 1.3e-4 SMART
ZnF_C2H2 271 293 1.1e-2 SMART
ZnF_C2H2 299 321 2.27e-4 SMART
ZnF_C2H2 327 349 6.99e-5 SMART
ZnF_C2H2 355 377 5.21e-4 SMART
ZnF_C2H2 383 405 9.73e-4 SMART
ZnF_C2H2 411 433 3.39e-3 SMART
ZnF_C2H2 439 461 1.58e-3 SMART
ZnF_C2H2 467 489 5.14e-3 SMART
ZnF_C2H2 495 517 2.61e-4 SMART
ZnF_C2H2 523 545 3.21e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146564
Predicted Effect probably benign
Transcript: ENSMUST00000170826
SMART Domains Protein: ENSMUSP00000127438
Gene: ENSMUSG00000090015

DomainStartEndE-ValueType
KRAB 3 59 1.74e-14 SMART
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency 98% (62/63)
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930444P10Rik T C 1: 16,151,183 (GRCm39) probably benign Het
4930562C15Rik A G 16: 4,667,915 (GRCm39) I435M possibly damaging Het
Adcy5 A G 16: 35,089,440 (GRCm39) I546V probably damaging Het
Apob A G 12: 8,027,806 (GRCm39) T10A probably benign Het
Brwd1 C A 16: 95,803,409 (GRCm39) D2254Y possibly damaging Het
Bub1b C A 2: 118,460,470 (GRCm39) D600E probably damaging Het
Cnga1 A G 5: 72,766,843 (GRCm39) S199P probably damaging Het
Cyp3a11 G T 5: 145,791,945 (GRCm39) L483I probably benign Het
Depp1 T C 6: 116,628,992 (GRCm39) S112P possibly damaging Het
Dpysl3 C A 18: 43,466,016 (GRCm39) G457V probably damaging Het
Eif4g3 C A 4: 137,824,105 (GRCm39) P36T possibly damaging Het
Epb41 C A 4: 131,706,246 (GRCm39) G415C probably damaging Het
Erap1 G A 13: 74,808,494 (GRCm39) V69M possibly damaging Het
F2 A T 2: 91,460,586 (GRCm39) Y301* probably null Het
F2rl2 A T 13: 95,837,195 (GRCm39) N80I possibly damaging Het
Fam237b A T 5: 5,625,565 (GRCm39) Y87F possibly damaging Het
Gpat3 G A 5: 101,031,290 (GRCm39) G148D probably damaging Het
Gpr26 A T 7: 131,585,976 (GRCm39) R315S probably damaging Het
Hdac9 A C 12: 34,487,163 (GRCm39) H100Q probably damaging Het
Heatr5a A T 12: 51,994,761 (GRCm39) V457D probably benign Het
Igkv10-96 A G 6: 68,609,223 (GRCm39) M24T possibly damaging Het
Igkv2-95-2 A G 6: 68,625,095 (GRCm39) noncoding transcript Het
Kdm4a G A 4: 118,003,802 (GRCm39) S758F probably damaging Het
Lrg1 A G 17: 56,427,154 (GRCm39) W273R probably damaging Het
Man2a1 A T 17: 65,017,729 (GRCm39) Q658H probably benign Het
Mapkapk5 T C 5: 121,671,454 (GRCm39) probably null Het
Mcm6 T C 1: 128,261,321 (GRCm39) D761G possibly damaging Het
Myh8 A T 11: 67,175,310 (GRCm39) Y286F probably damaging Het
Nbn C T 4: 15,963,893 (GRCm39) T98I probably damaging Het
Nrdc T C 4: 108,906,305 (GRCm39) S685P probably damaging Het
Nudcd3 A G 11: 6,143,238 (GRCm39) V80A probably benign Het
Or10al5 A G 17: 38,063,192 (GRCm39) H149R probably benign Het
Or5p54 A G 7: 107,554,376 (GRCm39) H176R probably damaging Het
Pdcd6ip A T 9: 113,507,401 (GRCm39) M390K probably damaging Het
Pon1 C T 6: 5,177,295 (GRCm39) V205I possibly damaging Het
Ppp4r2 C A 6: 100,842,176 (GRCm39) H212Q probably benign Het
Pramel32 T C 4: 88,548,372 (GRCm39) D11G possibly damaging Het
Prl2c5 G A 13: 13,360,441 (GRCm39) C33Y probably damaging Het
Rbak A G 5: 143,159,917 (GRCm39) F379L probably damaging Het
Rcc2 G A 4: 140,444,340 (GRCm39) D344N probably damaging Het
Rgs3 T C 4: 62,620,424 (GRCm39) L550P probably damaging Het
Rnasek A T 11: 70,130,486 (GRCm39) M25K probably damaging Het
Scgb1b24 A T 7: 33,443,520 (GRCm39) T60S possibly damaging Het
Scn5a A G 9: 119,365,042 (GRCm39) F392S probably damaging Het
Scpep1 A T 11: 88,827,871 (GRCm39) V209E probably damaging Het
Slc35g1 A G 19: 38,391,080 (GRCm39) probably null Het
Sorbs1 A G 19: 40,329,151 (GRCm39) I554T probably damaging Het
Spats1 A G 17: 45,777,059 (GRCm39) probably benign Het
Tdp1 A G 12: 99,859,919 (GRCm39) Q202R probably damaging Het
Trav6-5 T G 14: 53,729,045 (GRCm39) S102A probably damaging Het
Tspan2 T C 3: 102,676,215 (GRCm39) M208T probably damaging Het
Ube4b A G 4: 149,471,635 (GRCm39) S84P probably damaging Het
Vmn1r237 C A 17: 21,534,633 (GRCm39) Q119K probably benign Het
Vmn2r125 C T 4: 156,703,333 (GRCm39) T237I probably benign Het
Zfp65 A T 13: 67,856,929 (GRCm39) S117T probably benign Het
Other mutations in Gm15446
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01584:Gm15446 APN 5 110,088,668 (GRCm39) makesense probably null
R0278:Gm15446 UTSW 5 110,091,281 (GRCm39) missense probably benign 0.14
R0606:Gm15446 UTSW 5 110,091,347 (GRCm39) missense probably benign
R1608:Gm15446 UTSW 5 110,090,323 (GRCm39) missense probably damaging 1.00
R1874:Gm15446 UTSW 5 110,090,419 (GRCm39) missense probably damaging 0.99
R1892:Gm15446 UTSW 5 110,091,253 (GRCm39) missense probably damaging 1.00
R2000:Gm15446 UTSW 5 110,090,677 (GRCm39) missense possibly damaging 0.67
R2059:Gm15446 UTSW 5 110,090,362 (GRCm39) missense probably damaging 1.00
R3083:Gm15446 UTSW 5 110,091,158 (GRCm39) missense possibly damaging 0.48
R3883:Gm15446 UTSW 5 110,088,313 (GRCm39) missense probably damaging 0.98
R4086:Gm15446 UTSW 5 110,091,121 (GRCm39) missense probably benign 0.02
R4095:Gm15446 UTSW 5 110,088,590 (GRCm39) splice site probably null
R4459:Gm15446 UTSW 5 110,091,107 (GRCm39) missense probably benign 0.03
R4721:Gm15446 UTSW 5 110,090,866 (GRCm39) missense probably damaging 1.00
R4735:Gm15446 UTSW 5 110,090,818 (GRCm39) missense probably damaging 1.00
R5502:Gm15446 UTSW 5 110,088,364 (GRCm39) nonsense probably null
R6116:Gm15446 UTSW 5 110,090,902 (GRCm39) missense probably damaging 1.00
R6166:Gm15446 UTSW 5 110,090,646 (GRCm39) nonsense probably null
R6322:Gm15446 UTSW 5 110,091,383 (GRCm39) missense probably damaging 1.00
R7871:Gm15446 UTSW 5 110,091,165 (GRCm39) nonsense probably null
R7939:Gm15446 UTSW 5 110,090,360 (GRCm39) missense probably benign 0.22
R8045:Gm15446 UTSW 5 110,088,394 (GRCm39) missense probably damaging 1.00
R8069:Gm15446 UTSW 5 110,088,306 (GRCm39) nonsense probably null
R8528:Gm15446 UTSW 5 110,090,896 (GRCm39) missense possibly damaging 0.95
R9074:Gm15446 UTSW 5 110,091,299 (GRCm39) missense probably damaging 1.00
R9198:Gm15446 UTSW 5 110,090,743 (GRCm39) missense probably damaging 1.00
R9604:Gm15446 UTSW 5 110,088,314 (GRCm39) missense probably damaging 1.00
R9706:Gm15446 UTSW 5 110,091,161 (GRCm39) missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- AGCAGTGTACTAAATCCTTTGCC -3'
(R):5'- TGCCACATTGCTCACATTCATAGG -3'

Sequencing Primer
(F):5'- TTCATACTGGCGAGAAACCTTAC -3'
(R):5'- ACATTGCTCACATTCATAGGGTTTC -3'
Posted On 2016-07-22