Incidental Mutation 'R2511:Gm5431'
ID 252987
Institutional Source Beutler Lab
Gene Symbol Gm5431
Ensembl Gene ENSMUSG00000058163
Gene Name predicted gene 5431
Synonyms
MMRRC Submission 040417-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.063) question?
Stock # R2511 (G1)
Quality Score 121
Status Not validated
Chromosome 11
Chromosomal Location 48778249-48792979 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 48779536 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 740 (N740I)
Ref Sequence ENSEMBL: ENSMUSP00000104835 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109209] [ENSMUST00000109210] [ENSMUST00000109212]
AlphaFold Q5NCB3
Predicted Effect probably benign
Transcript: ENSMUST00000109209
AA Change: N462I

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000104832
Gene: ENSMUSG00000058163
AA Change: N462I

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: N462I

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000104833
Gene: ENSMUSG00000058163
AA Change: N462I

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: N740I

PolyPhen 2 Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000104835
Gene: ENSMUSG00000058163
AA Change: N740I

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 103 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9330159F19Rik T A 10: 29,097,902 (GRCm39) C100S probably damaging Het
Abcc8 C T 7: 45,800,204 (GRCm39) R526H probably damaging Het
Acad10 G A 5: 121,769,630 (GRCm39) P609S probably benign Het
Acod1 A T 14: 103,288,775 (GRCm39) D95V probably damaging Het
Acsm5 A T 7: 119,129,677 (GRCm39) I130F possibly damaging Het
Ago4 A T 4: 126,410,864 (GRCm39) D208E probably damaging Het
Agrn A T 4: 156,250,881 (GRCm39) probably null Het
Ankar A T 1: 72,697,853 (GRCm39) I791K probably damaging Het
Ano10 A G 9: 122,088,011 (GRCm39) V364A probably damaging Het
Arhgap9 T C 10: 127,164,854 (GRCm39) probably null Het
Arsi G A 18: 61,049,666 (GRCm39) C183Y probably damaging Het
Ascl2 T G 7: 142,521,953 (GRCm39) E97A probably damaging Het
Bcl2a1a C T 9: 88,839,506 (GRCm39) R135W probably damaging Het
Bms1 C T 6: 118,368,114 (GRCm39) probably null Het
Bysl T A 17: 47,915,260 (GRCm39) T163S probably benign Het
Card10 A G 15: 78,664,473 (GRCm39) I821T probably benign Het
Cc2d2a A T 5: 43,892,737 (GRCm39) Q1433L probably damaging Het
Cchcr1 T C 17: 35,841,410 (GRCm39) S809P probably benign Het
Ccz1 G T 5: 143,949,815 (GRCm39) T70K probably damaging Het
Cdc25c G C 18: 34,871,292 (GRCm39) L275V probably damaging Het
Cep164 A T 9: 45,686,547 (GRCm39) L729Q probably damaging Het
Clcn6 A G 4: 148,101,951 (GRCm39) probably null Het
Clcn7 T A 17: 25,374,420 (GRCm39) V507E probably damaging Het
Cracdl T C 1: 37,664,381 (GRCm39) M506V probably benign Het
Ctso A C 3: 81,840,041 (GRCm39) T24P probably damaging Het
Dis3l2 A T 1: 86,917,980 (GRCm39) N543I probably benign Het
Dnah12 A T 14: 26,491,907 (GRCm39) Y1114F possibly damaging Het
Emx1 A G 6: 85,181,033 (GRCm39) D250G probably benign Het
Epha4 G A 1: 77,488,339 (GRCm39) A47V possibly damaging Het
Fam149b A C 14: 20,428,524 (GRCm39) N341T probably damaging Het
Fsip2 A G 2: 82,782,001 (GRCm39) K62R probably damaging Het
Fsip2 T C 2: 82,816,782 (GRCm39) S4172P probably benign Het
Gbp3 A G 3: 142,276,343 (GRCm39) R480G probably benign Het
Get3 A G 8: 85,746,395 (GRCm39) V151A possibly damaging Het
Gja8 T G 3: 96,827,033 (GRCm39) T210P probably damaging Het
Gm9930 T C 10: 9,410,446 (GRCm39) noncoding transcript Het
Gstt4 C T 10: 75,650,959 (GRCm39) C221Y probably benign Het
Gzmg A T 14: 56,395,832 (GRCm39) D42E probably benign Het
Hoxd12 G A 2: 74,505,815 (GRCm39) A129T possibly damaging Het
Hs2st1 G A 3: 144,275,691 (GRCm39) probably benign Het
Ifnlr1 G T 4: 135,432,559 (GRCm39) D332Y probably damaging Het
Igsf10 T C 3: 59,239,287 (GRCm39) D298G probably damaging Het
Irf1 T C 11: 53,664,617 (GRCm39) V108A probably damaging Het
Jsrp1 C G 10: 80,648,140 (GRCm39) S36T probably benign Het
Kcnq5 T A 1: 21,576,006 (GRCm39) R233* probably null Het
Kif7 T C 7: 79,352,012 (GRCm39) K917E probably damaging Het
Krt7 A C 15: 101,310,538 (GRCm39) I62L probably benign Het
Lifr A G 15: 7,196,397 (GRCm39) T194A probably benign Het
Ltbp2 T C 12: 84,851,183 (GRCm39) probably null Het
Maco1 A G 4: 134,531,699 (GRCm39) S657P probably damaging Het
Man2c1 A G 9: 57,048,672 (GRCm39) probably null Het
Met T C 6: 17,491,966 (GRCm39) S243P probably damaging Het
Mllt10 C A 2: 18,069,935 (GRCm39) D30E possibly damaging Het
Mre11a A C 9: 14,707,065 (GRCm39) probably null Het
Mroh9 A G 1: 162,866,514 (GRCm39) S710P probably benign Het
Mvk C A 5: 114,588,459 (GRCm39) Y116* probably null Het
Myh1 A G 11: 67,096,423 (GRCm39) I301V probably benign Het
Ncf1 T C 5: 134,254,552 (GRCm39) D184G probably damaging Het
Nxpe4 T C 9: 48,304,533 (GRCm39) F207L probably damaging Het
Or2ag18 G T 7: 106,405,168 (GRCm39) P167H probably damaging Het
Or2y1b T G 11: 49,209,048 (GRCm39) L225R probably damaging Het
Or4k51 T A 2: 111,584,661 (GRCm39) N22K probably benign Het
Or52b1 A T 7: 104,978,817 (GRCm39) I194N probably damaging Het
Or5b24 T A 19: 12,912,537 (GRCm39) M145K possibly damaging Het
Or5w14 T C 2: 87,541,392 (GRCm39) N286S probably damaging Het
Pcdh1 G A 18: 38,332,532 (GRCm39) T296M possibly damaging Het
Pcdh15 A G 10: 74,481,828 (GRCm39) D391G possibly damaging Het
Pcdha7 C A 18: 37,107,786 (GRCm39) D270E probably damaging Het
Pgam1 C A 19: 41,904,315 (GRCm39) S137R probably damaging Het
Pitpnm2 T C 5: 124,274,389 (GRCm39) E240G probably damaging Het
Plce1 T G 19: 38,748,498 (GRCm39) I1729S probably damaging Het
Plppr4 G T 3: 117,125,355 (GRCm39) N161K probably damaging Het
Pramel27 G A 4: 143,578,561 (GRCm39) V274I probably benign Het
Prkce T A 17: 86,932,754 (GRCm39) I578N probably damaging Het
Prss58 A C 6: 40,874,734 (GRCm39) S36A probably damaging Het
Ptprm T C 17: 67,000,773 (GRCm39) H1128R probably damaging Het
Rgs9 T C 11: 109,159,798 (GRCm39) Y178C probably benign Het
Rubcn T C 16: 32,667,624 (GRCm39) N179S probably damaging Het
Sh3bp1 C T 15: 78,795,706 (GRCm39) P612S probably damaging Het
Sh3bp5 G A 14: 31,133,586 (GRCm39) T82M probably damaging Het
Shank2 A G 7: 143,965,314 (GRCm39) Y974C probably damaging Het
Slc9c1 T C 16: 45,365,099 (GRCm39) I144T possibly damaging Het
Slf2 T C 19: 44,930,045 (GRCm39) I374T possibly damaging Het
Snx13 A G 12: 35,188,080 (GRCm39) D786G probably benign Het
Spcs3 A G 8: 54,976,389 (GRCm39) V151A possibly damaging Het
Sstr2 A T 11: 113,515,749 (GRCm39) I223F probably damaging Het
Stac3 T C 10: 127,339,787 (GRCm39) probably null Het
Tas1r2 A G 4: 139,387,162 (GRCm39) N207S probably damaging Het
Tectb C G 19: 55,169,431 (GRCm39) probably benign Het
Tgm5 T C 2: 120,907,429 (GRCm39) E98G possibly damaging Het
Tktl2 A G 8: 66,965,504 (GRCm39) E354G probably benign Het
Tmem94 G A 11: 115,682,787 (GRCm39) R608H probably damaging Het
Tnrc6a G A 7: 122,770,315 (GRCm39) V702I probably damaging Het
Trappc10 A G 10: 78,047,357 (GRCm39) S380P possibly damaging Het
Trim24 G A 6: 37,880,587 (GRCm39) probably null Het
Ugt1a2 A G 1: 88,128,846 (GRCm39) Y163C probably damaging Het
Vmn1r215 A G 13: 23,260,343 (GRCm39) I128V probably benign Het
Vmn2r50 T A 7: 9,781,640 (GRCm39) E368D possibly damaging Het
Vmn2r59 T C 7: 41,693,190 (GRCm39) N470S probably damaging Het
Vps45 T C 3: 95,948,757 (GRCm39) T333A probably benign Het
Zbtb44 T A 9: 30,965,539 (GRCm39) D316E probably damaging Het
Zdhhc1 C T 8: 106,210,190 (GRCm39) V76M probably benign Het
Zfp235 T C 7: 23,841,549 (GRCm39) F656S probably damaging 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
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
R6192:Gm5431 UTSW 11 48,785,220 (GRCm39) missense probably benign 0.01
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'- CATCACTTGCCACAGTATCAATG -3'
(R):5'- ACTGAGACTGCCATTGACCG -3'

Sequencing Primer
(F):5'- CTTGCCACAGTATCAATGAAGAG -3'
(R):5'- CCATTGACCGGAAGAGGGATTTC -3'
Posted On 2014-12-04