Incidental Mutation 'R6322:Gm15446'
ID 510149
Institutional Source Beutler Lab
Gene Symbol Gm15446
Ensembl Gene ENSMUSG00000090015
Gene Name predicted gene 15446
Synonyms
MMRRC Submission 044476-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.053) question?
Stock # R6322 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 110081429-110089576 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 110091383 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 545 (H545L)
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: H545L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108163
Gene: ENSMUSG00000090015
AA Change: H545L

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.7%
Validation Efficiency 98% (51/52)
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik T C 2: 68,559,843 (GRCm39) V211A probably benign Het
Adora3 G A 3: 105,814,760 (GRCm39) R170H probably benign Het
Aldh1l1 T C 6: 90,539,680 (GRCm39) I203T probably benign Het
Alox12b T C 11: 69,049,199 (GRCm39) Y83H possibly damaging Het
Atcay A T 10: 81,049,125 (GRCm39) I159K probably damaging Het
Blvra A G 2: 126,922,459 (GRCm39) probably benign Het
Catspere2 T A 1: 177,845,296 (GRCm39) Y105* probably null Het
Celsr2 A G 3: 108,319,890 (GRCm39) F974S probably damaging Het
Cfap44 C T 16: 44,254,029 (GRCm39) R918* probably null Het
Cpa6 T A 1: 10,547,346 (GRCm39) R181S possibly damaging Het
Dlg1 A G 16: 31,675,297 (GRCm39) N730D probably damaging Het
Eif2ak1 A G 5: 143,835,913 (GRCm39) T535A probably benign Het
Fam13c A T 10: 70,334,721 (GRCm39) D149V probably damaging Het
Fam171a1 G A 2: 3,227,392 (GRCm39) V717I probably benign Het
Fchsd1 A G 18: 38,098,753 (GRCm39) V290A probably benign Het
Gm10549 C A 18: 33,597,358 (GRCm39) probably benign Het
Gm11595 G A 11: 99,663,381 (GRCm39) R100C unknown Het
Heatr9 T G 11: 83,407,538 (GRCm39) K215T possibly damaging Het
Hfe T A 13: 23,889,879 (GRCm39) H210L probably damaging Het
Lama2 T C 10: 27,066,543 (GRCm39) T1113A probably damaging Het
Lipe A T 7: 25,079,961 (GRCm39) V686E probably damaging Het
Map3k20 T G 2: 72,263,814 (GRCm39) L488V possibly damaging Het
Moxd1 C T 10: 24,160,709 (GRCm39) T454I probably damaging Het
Mrpl58 C T 11: 115,301,492 (GRCm39) R189* probably null Het
Myl10 G C 5: 136,726,825 (GRCm39) V70L probably benign Het
Nkx1-1 T C 5: 33,588,389 (GRCm39) N300D probably damaging Het
Nrm A T 17: 36,175,605 (GRCm39) Q237L possibly damaging Het
Numa1 T C 7: 101,650,127 (GRCm39) L1286P probably damaging Het
Or4f4-ps1 T C 2: 111,329,729 (GRCm39) F44S possibly damaging Het
Pappa C A 4: 65,232,896 (GRCm39) A1345D probably damaging Het
Pds5a T C 5: 65,854,177 (GRCm39) I22V probably benign Het
Phf21b C A 15: 84,671,580 (GRCm39) R438L possibly damaging Het
Pik3r5 T C 11: 68,383,567 (GRCm39) L462P probably benign Het
Plagl2 T C 2: 153,073,806 (GRCm39) E365G probably benign Het
Plxna2 A G 1: 194,436,675 (GRCm39) Y677C possibly damaging Het
Pramel13 A G 4: 144,119,475 (GRCm39) M364T probably benign Het
Prkcd C A 14: 30,321,620 (GRCm39) G410W probably damaging Het
Rgl1 T C 1: 152,428,186 (GRCm39) I348V probably damaging Het
Rnmt C T 18: 68,452,285 (GRCm39) P386S probably damaging Het
Rtn3 G A 19: 7,435,503 (GRCm39) P163L possibly damaging Het
Sfxn1 T C 13: 54,258,869 (GRCm39) C275R possibly damaging Het
Sh2b2 A G 5: 136,253,042 (GRCm39) S377P probably damaging Het
Sh3bp1 C T 15: 78,795,715 (GRCm39) P615S probably damaging Het
Simc1 T C 13: 54,698,382 (GRCm39) L1334S probably damaging Het
Slc9a2 C A 1: 40,781,813 (GRCm39) Y347* probably null Het
Snapc5 T A 9: 64,089,455 (GRCm39) I71K probably damaging Het
Tmem161a T C 8: 70,634,764 (GRCm39) F447S probably damaging Het
Tns3 A G 11: 8,442,147 (GRCm39) C739R probably benign Het
Trappc11 A T 8: 47,983,808 (GRCm39) V28D possibly damaging Het
Ubr3 C T 2: 69,786,429 (GRCm39) Q848* probably null Het
Zbtb17 G A 4: 141,190,694 (GRCm39) G171S 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
R5229:Gm15446 UTSW 5 110,091,036 (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
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'- CTTTTGCACGACACAGTCATCTC -3'
(R):5'- CATCTTGATCAGAAGCCAGAAGA -3'

Sequencing Primer
(F):5'- CAATGTGGTAAAGCCCTTGC -3'
(R):5'- TGTGGATCTCAAGGTCCAAGC -3'
Posted On 2018-04-02