Incidental Mutation 'R6192:Gm5431'
ID 502661
Institutional Source Beutler Lab
Gene Symbol Gm5431
Ensembl Gene ENSMUSG00000058163
Gene Name predicted gene 5431
Synonyms
MMRRC Submission 044332-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.063) question?
Stock # R6192 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 48778249-48792979 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 48785220 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 107 (D107V)
Ref Sequence ENSEMBL: ENSMUSP00000104833 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109209] [ENSMUST00000109210] [ENSMUST00000109212]
AlphaFold Q5NCB3
Predicted Effect probably benign
Transcript: ENSMUST00000109209
AA Change: D107V

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000104832
Gene: ENSMUSG00000058163
AA Change: D107V

DomainStartEndE-ValueType
Pfam:IIGP 1 120 1.6e-22 PFAM
low complexity region 153 166 N/A INTRINSIC
Pfam:IIGP 169 542 9.4e-154 PFAM
Pfam:MMR_HSR1 205 359 1.5e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000109210
AA Change: D107V

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000104833
Gene: ENSMUSG00000058163
AA Change: D107V

DomainStartEndE-ValueType
Pfam:IIGP 1 120 1.6e-22 PFAM
low complexity region 153 166 N/A INTRINSIC
Pfam:IIGP 169 542 9.4e-154 PFAM
Pfam:MMR_HSR1 205 359 1.5e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000109212
AA Change: D385V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000104835
Gene: ENSMUSG00000058163
AA Change: D385V

DomainStartEndE-ValueType
Pfam:IIGP 36 398 2.5e-125 PFAM
Pfam:DLIC 54 107 3.4e-5 PFAM
Pfam:MMR_HSR1 72 235 1.7e-11 PFAM
low complexity region 431 444 N/A INTRINSIC
Pfam:IIGP 447 820 6.3e-153 PFAM
Pfam:MMR_HSR1 483 606 2.4e-7 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 100% (75/75)
Allele List at MGI
Other mutations in this stock
Total: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts9 T C 6: 92,774,002 (GRCm39) E1137G probably damaging Het
Adcy9 T C 16: 4,105,818 (GRCm39) I1099V probably benign Het
Angptl4 A T 17: 33,996,015 (GRCm39) N320K probably benign Het
Atp6v0a2 G A 5: 124,767,268 (GRCm39) M10I probably benign Het
Bltp1 C T 3: 37,042,318 (GRCm39) T2768I probably benign Het
Cbfa2t3 A G 8: 123,361,135 (GRCm39) S395P probably benign Het
Cenpe C T 3: 134,954,291 (GRCm39) T1716I possibly damaging Het
Chsy1 T C 7: 65,820,625 (GRCm39) Y287H probably benign Het
Col4a4 G T 1: 82,462,151 (GRCm39) P1075T probably damaging Het
Cryab T A 9: 50,665,813 (GRCm39) M68K probably damaging Het
Cybrd1 T A 2: 70,967,858 (GRCm39) L143Q probably null Het
Dcaf7 T C 11: 105,942,584 (GRCm39) V177A probably damaging Het
Dclk2 T C 3: 86,722,457 (GRCm39) Y392C probably damaging Het
Ddx20 T C 3: 105,586,036 (GRCm39) T770A probably benign Het
Dennd1b T A 1: 139,095,456 (GRCm39) D501E probably benign Het
Dgkh A T 14: 78,865,504 (GRCm39) Y26* probably null Het
Dnajc2 A G 5: 21,973,646 (GRCm39) V196A probably damaging Het
Etl4 A G 2: 20,806,362 (GRCm39) K827E probably damaging Het
Fam8a1 C T 13: 46,823,099 (GRCm39) P13L probably damaging Het
Gfra3 T C 18: 34,837,582 (GRCm39) S139G possibly damaging Het
Ggnbp1 G A 17: 27,248,847 (GRCm39) V139I possibly damaging Het
Gja1 T A 10: 56,264,330 (GRCm39) Y230N probably damaging Het
Gldc A G 19: 30,111,172 (GRCm39) S535P probably damaging Het
Gm45871 A G 18: 90,610,357 (GRCm39) T532A probably benign Het
Herc2 C T 7: 55,857,510 (GRCm39) T4031M probably damaging Het
Iffo2 G A 4: 139,333,769 (GRCm39) A282T probably damaging Het
Ifi44 T G 3: 151,451,276 (GRCm39) probably null Het
Igkv4-53 C T 6: 69,625,915 (GRCm39) R62H possibly damaging Het
Lrp11 A C 10: 7,474,454 (GRCm39) probably null Het
Lrp4 A G 2: 91,338,833 (GRCm39) T1755A probably benign Het
Mcm3ap A T 10: 76,336,934 (GRCm39) K1316M probably damaging Het
Mctp1 T G 13: 76,971,082 (GRCm39) probably null Het
Mroh5 A T 15: 73,662,630 (GRCm39) I396N probably damaging Het
Mrps5 T A 2: 127,443,305 (GRCm39) H294Q probably damaging Het
Muc16 A T 9: 18,569,985 (GRCm39) S845T unknown Het
Mycbpap A T 11: 94,398,557 (GRCm39) V474E probably damaging Het
Mzt2 G C 16: 15,666,551 (GRCm39) S122W probably benign Het
Neb T C 2: 52,146,802 (GRCm39) I2821V probably benign Het
Ngef A T 1: 87,415,622 (GRCm39) D347E probably damaging Het
Nlrp14 T C 7: 106,781,646 (GRCm39) V281A probably benign Het
Obscn A T 11: 58,888,864 (GRCm39) Y7597N unknown Het
Or4k47 T C 2: 111,451,520 (GRCm39) R300G possibly damaging Het
Patj G T 4: 98,344,394 (GRCm39) G569W probably damaging Het
Pdzrn4 A T 15: 92,655,562 (GRCm39) E485V probably damaging Het
Phf2 T A 13: 48,973,583 (GRCm39) T361S unknown Het
Pik3r6 A G 11: 68,434,455 (GRCm39) E552G probably damaging Het
Pitx2 A G 3: 129,009,521 (GRCm39) T147A probably benign Het
Pkmyt1 G A 17: 23,953,167 (GRCm39) G241D probably damaging Het
Pola2 A T 19: 6,003,802 (GRCm39) V191D possibly damaging Het
Ralgapb T A 2: 158,291,367 (GRCm39) probably null Het
Rapgef4 T C 2: 71,811,661 (GRCm39) S11P probably benign Het
Rnf10 G A 5: 115,395,136 (GRCm39) R151C probably damaging Het
Rpl34 G A 3: 130,522,716 (GRCm39) P50L probably benign Het
Rptn C G 3: 93,305,437 (GRCm39) H923Q possibly damaging Het
Sbno2 A T 10: 79,895,850 (GRCm39) L977Q probably damaging Het
Sec14l3 G A 11: 4,025,566 (GRCm39) probably null Het
Serping1 A T 2: 84,600,612 (GRCm39) N243K possibly damaging Het
Slco2b1 T A 7: 99,334,779 (GRCm39) I231F probably damaging Het
Spag8 A G 4: 43,652,458 (GRCm39) F294S probably damaging Het
Speer4f1 G A 5: 17,684,493 (GRCm39) A174T probably damaging Het
Spred3 T C 7: 28,862,402 (GRCm39) D147G probably benign Het
Stard9 A G 2: 120,527,241 (GRCm39) D1166G probably damaging Het
Svep1 G T 4: 58,104,536 (GRCm39) T1229K possibly damaging Het
Tanc1 T A 2: 59,669,305 (GRCm39) probably null Het
Tmem232 T C 17: 65,737,800 (GRCm39) Y420C probably damaging Het
Tubd1 A T 11: 86,448,619 (GRCm39) M311L probably benign Het
Tulp3 G A 6: 128,332,703 (GRCm39) probably null Het
Usp42 T C 5: 143,702,942 (GRCm39) T560A possibly damaging Het
Vmn1r170 A T 7: 23,305,934 (GRCm39) Y112F probably damaging Het
Vmn2r4 A T 3: 64,322,699 (GRCm39) C7S probably benign Het
Wrn A G 8: 33,774,682 (GRCm39) M652T probably benign Het
Wsb1 G A 11: 79,139,336 (GRCm39) P120L possibly damaging Het
Zfp142 T C 1: 74,609,667 (GRCm39) E1376G probably damaging Het
Zfp709 TCGACG TCG 8: 72,644,552 (GRCm39) probably benign Het
Other mutations in Gm5431
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00479:Gm5431 APN 11 48,786,241 (GRCm39) missense probably benign 0.09
IGL00964:Gm5431 APN 11 48,780,094 (GRCm39) missense probably damaging 0.99
IGL01571:Gm5431 APN 11 48,785,540 (GRCm39) missense probably benign 0.00
IGL02006:Gm5431 APN 11 48,779,330 (GRCm39) missense probably damaging 1.00
IGL02084:Gm5431 APN 11 48,779,912 (GRCm39) missense probably benign 0.41
IGL02255:Gm5431 APN 11 48,779,785 (GRCm39) missense possibly damaging 0.93
IGL02291:Gm5431 APN 11 48,779,791 (GRCm39) missense probably damaging 1.00
IGL03194:Gm5431 APN 11 48,786,364 (GRCm39) intron probably benign
IGL03251:Gm5431 APN 11 48,785,548 (GRCm39) missense probably benign 0.00
R1168:Gm5431 UTSW 11 48,786,191 (GRCm39) missense probably benign 0.36
R1387:Gm5431 UTSW 11 48,785,842 (GRCm39) missense possibly damaging 0.92
R1396:Gm5431 UTSW 11 48,786,261 (GRCm39) intron probably benign
R1711:Gm5431 UTSW 11 48,785,853 (GRCm39) missense possibly damaging 0.73
R1750:Gm5431 UTSW 11 48,785,658 (GRCm39) missense probably benign 0.01
R1927:Gm5431 UTSW 11 48,780,082 (GRCm39) missense probably damaging 1.00
R1957:Gm5431 UTSW 11 48,779,224 (GRCm39) nonsense probably null
R2196:Gm5431 UTSW 11 48,780,058 (GRCm39) missense probably damaging 1.00
R2509:Gm5431 UTSW 11 48,779,536 (GRCm39) missense probably benign 0.16
R2511:Gm5431 UTSW 11 48,779,536 (GRCm39) missense probably benign 0.16
R4018:Gm5431 UTSW 11 48,779,995 (GRCm39) missense probably damaging 1.00
R4859:Gm5431 UTSW 11 48,780,409 (GRCm39) missense probably damaging 1.00
R4895:Gm5431 UTSW 11 48,779,855 (GRCm39) missense probably damaging 0.98
R5124:Gm5431 UTSW 11 48,779,866 (GRCm39) missense probably benign 0.31
R5311:Gm5431 UTSW 11 48,779,716 (GRCm39) missense probably damaging 1.00
R5600:Gm5431 UTSW 11 48,785,583 (GRCm39) missense possibly damaging 0.56
R5728:Gm5431 UTSW 11 48,779,440 (GRCm39) missense probably damaging 1.00
R5731:Gm5431 UTSW 11 48,785,275 (GRCm39) missense probably damaging 0.96
R6120:Gm5431 UTSW 11 48,785,608 (GRCm39) missense probably benign 0.36
R6129:Gm5431 UTSW 11 48,780,418 (GRCm39) missense probably damaging 1.00
R6169:Gm5431 UTSW 11 48,779,402 (GRCm39) missense probably benign 0.29
R6253:Gm5431 UTSW 11 48,785,826 (GRCm39) missense probably benign 0.00
R6326:Gm5431 UTSW 11 48,780,172 (GRCm39) missense probably damaging 1.00
R6401:Gm5431 UTSW 11 48,779,536 (GRCm39) missense probably benign 0.16
R6654:Gm5431 UTSW 11 48,785,427 (GRCm39) missense possibly damaging 0.91
R6810:Gm5431 UTSW 11 48,779,803 (GRCm39) missense probably damaging 1.00
R6965:Gm5431 UTSW 11 48,786,027 (GRCm39) missense probably benign 0.19
R6970:Gm5431 UTSW 11 48,779,317 (GRCm39) missense probably damaging 1.00
R7269:Gm5431 UTSW 11 48,779,237 (GRCm39) missense probably benign
R7770:Gm5431 UTSW 11 48,779,285 (GRCm39) missense probably benign 0.02
R8260:Gm5431 UTSW 11 48,785,556 (GRCm39) missense probably benign 0.01
R8385:Gm5431 UTSW 11 48,780,347 (GRCm39) missense probably damaging 1.00
R9058:Gm5431 UTSW 11 48,786,049 (GRCm39) missense probably benign 0.09
R9127:Gm5431 UTSW 11 48,779,600 (GRCm39) nonsense probably null
R9138:Gm5431 UTSW 11 48,780,498 (GRCm39) missense probably benign 0.05
R9355:Gm5431 UTSW 11 48,785,275 (GRCm39) missense probably damaging 0.96
R9655:Gm5431 UTSW 11 48,785,799 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GCGCATCATGTAACAGTCTCAC -3'
(R):5'- TCACTGGAAAACATCGCTGAG -3'

Sequencing Primer
(F):5'- GTCAGAGTCACTTTGAAACATCTC -3'
(R):5'- CATCGCTGAGGATTTGAACGTGAC -3'
Posted On 2018-02-27