Incidental Mutation 'R7191:Gm4951'
ID559621
Institutional Source Beutler Lab
Gene Symbol Gm4951
Ensembl Gene ENSMUSG00000073555
Gene Namepredicted gene 4951
Synonyms
MMRRC Submission
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R7191 (G1)
Quality Score225.009
Status Validated
Chromosome18
Chromosomal Location60212080-60247820 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 60246257 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Valine at position 288 (D288V)
Ref Sequence ENSEMBL: ENSMUSP00000031549 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031549]
Predicted Effect probably benign
Transcript: ENSMUST00000031549
AA Change: D288V

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000031549
Gene: ENSMUSG00000073555
AA Change: D288V

DomainStartEndE-ValueType
Pfam:IIGP 34 402 4.8e-157 PFAM
Pfam:MMR_HSR1 70 198 2.8e-8 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 100% (52/52)
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2510009E07Rik T A 16: 21,653,564 I129F probably benign Het
Ank2 T A 3: 126,946,392 T1948S unknown Het
Arap1 T C 7: 101,384,992 C214R probably benign Het
BC024978 G A 7: 27,201,123 A176T probably damaging Het
Ccdc82 C T 9: 13,252,472 Q130* probably null Het
Cfh A C 1: 140,112,567 V597G probably benign Het
Clp1 A T 2: 84,724,146 C226* probably null Het
Cyp39a1 G A 17: 43,731,019 W372* probably null Het
Dchs1 G A 7: 105,765,439 P799S possibly damaging Het
Dmbt1 A T 7: 131,044,520 N167I unknown Het
Dock10 A G 1: 80,540,331 S1310P possibly damaging Het
Fam83h C T 15: 76,003,037 G817D probably damaging Het
Fras1 A G 5: 96,614,912 T758A probably benign Het
Fryl T C 5: 73,072,912 H1634R probably damaging Het
Gcg C G 2: 62,476,839 G126A probably damaging Het
Gm4763 C T 7: 24,723,334 V105I possibly damaging Het
Gne T C 4: 44,040,266 K633E probably benign Het
Gpr4 T C 7: 19,223,230 V359A probably benign Het
Gprc5c C T 11: 114,868,617 T422M possibly damaging Het
Gria2 C A 3: 80,732,085 V207L probably benign Het
Hid1 T C 11: 115,348,469 *789W probably null Het
Jakmip3 G A 7: 138,989,528 probably null Het
Kin G A 2: 10,091,793 R151Q probably benign Het
Krt16 T C 11: 100,246,658 E407G probably damaging Het
Krt81 T C 15: 101,460,229 D381G probably damaging Het
Lrrc34 C T 3: 30,624,878 G357S possibly damaging Het
Mipol1 A G 12: 57,457,066 Q340R probably benign Het
Mpzl3 T G 9: 45,055,244 M1R probably null Het
Nrcam A G 12: 44,572,244 N852S probably benign Het
Nudcd2 C T 11: 40,736,603 Q117* probably null Het
Nup35 A T 2: 80,658,379 E320V probably damaging Het
Olfml3 T C 3: 103,735,860 K402E probably damaging Het
Olfr477 G A 7: 107,990,646 V94M possibly damaging Het
Pkhd1 T C 1: 20,558,719 H668R probably benign Het
Ptprc T A 1: 138,101,044 D333V probably benign Het
Rdh16 A G 10: 127,813,418 K248E probably benign Het
Samd4b C A 7: 28,414,261 G93V probably benign Het
Scgn A G 13: 23,981,493 I78T probably benign Het
Slfn14 T C 11: 83,276,749 I647V probably benign Het
Smyd5 T C 6: 85,440,111 V157A probably benign Het
Syde2 T C 3: 146,002,358 M951T probably benign Het
Tas2r105 T C 6: 131,686,982 N161S probably damaging Het
Tbck T C 3: 132,737,555 F581L probably damaging Het
Traip A G 9: 107,970,017 N352D probably benign Het
Trim29 A G 9: 43,311,609 Y245C probably damaging Het
Trpv4 T C 5: 114,633,140 I443V probably benign Het
Usp36 C T 11: 118,268,834 E595K probably benign Het
Vmn2r51 T A 7: 10,100,553 Y186F probably null Het
Vmn2r97 A G 17: 18,930,286 Y465C probably damaging Het
Wrb A G 16: 96,151,945 I79V possibly damaging Het
Zfp277 A T 12: 40,329,562 H324Q probably damaging Het
Zfp987 A G 4: 146,121,903 D17G probably damaging Het
Other mutations in Gm4951
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00717:Gm4951 APN 18 60246293 missense probably damaging 1.00
IGL00807:Gm4951 APN 18 60245411 missense probably damaging 1.00
IGL00956:Gm4951 APN 18 60246190 missense probably damaging 1.00
IGL01017:Gm4951 APN 18 60245436 missense possibly damaging 0.87
IGL01929:Gm4951 APN 18 60246482 missense probably benign 0.02
IGL02267:Gm4951 APN 18 60246398 missense probably damaging 0.97
IGL02276:Gm4951 APN 18 60246079 missense probably damaging 0.99
IGL02499:Gm4951 APN 18 60245638 missense probably damaging 1.00
IGL02538:Gm4951 APN 18 60245872 nonsense probably null
IGL03139:Gm4951 APN 18 60246149 missense probably benign 0.01
IGL03209:Gm4951 APN 18 60246071 missense probably damaging 1.00
IGL03270:Gm4951 APN 18 60245476 missense probably benign 0.01
IGL03325:Gm4951 APN 18 60245811 nonsense probably null
Carboniferous UTSW 18 60245768 missense probably damaging 1.00
Oily UTSW 18 60245652 missense probably damaging 1.00
R0554:Gm4951 UTSW 18 60245417 missense probably benign 0.15
R2046:Gm4951 UTSW 18 60245499 missense probably benign 0.00
R2296:Gm4951 UTSW 18 60245470 missense probably benign 0.00
R4583:Gm4951 UTSW 18 60246080 missense possibly damaging 0.93
R5500:Gm4951 UTSW 18 60246020 missense probably damaging 0.99
R5532:Gm4951 UTSW 18 60246070 missense probably benign 0.23
R5938:Gm4951 UTSW 18 60245652 missense probably damaging 1.00
R6446:Gm4951 UTSW 18 60245768 missense probably damaging 1.00
R7238:Gm4951 UTSW 18 60246283 missense possibly damaging 0.64
R7443:Gm4951 UTSW 18 60246050 missense probably benign 0.11
Z1177:Gm4951 UTSW 18 60246296 missense probably benign 0.23
Predicted Primers PCR Primer
(F):5'- AGAATGGCATTGCTGAGCCAC -3'
(R):5'- TTCTTCATCTGTAGGTGTGAACAC -3'

Sequencing Primer
(F):5'- GGCATTGCTGAGCCACCTATC -3'
(R):5'- CACGGCAGGAGATTTTATCATGGC -3'
Posted On2019-06-26