Incidental Mutation 'R5731:Gm5431'
ID 452771
Institutional Source Beutler Lab
Gene Symbol Gm5431
Ensembl Gene ENSMUSG00000058163
Gene Name predicted gene 5431
Synonyms
MMRRC Submission 043192-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.063) question?
Stock # R5731 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 48778249-48792979 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 48785275 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 89 (Y89H)
Ref Sequence ENSEMBL: ENSMUSP00000104833 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109209] [ENSMUST00000109210] [ENSMUST00000109212]
AlphaFold Q5NCB3
Predicted Effect probably damaging
Transcript: ENSMUST00000109209
AA Change: Y89H

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000104832
Gene: ENSMUSG00000058163
AA Change: Y89H

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 damaging
Transcript: ENSMUST00000109210
AA Change: Y89H

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000104833
Gene: ENSMUSG00000058163
AA Change: Y89H

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: Y367H

PolyPhen 2 Score 0.356 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000104835
Gene: ENSMUSG00000058163
AA Change: Y367H

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: 97.3%
  • 20x: 95.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5930422O12Rik A G 8: 33,919,353 (GRCm39) I58V unknown Het
Abca4 G T 3: 121,926,242 (GRCm39) G18V probably damaging Het
Arl9 T C 5: 77,154,374 (GRCm39) V34A possibly damaging Het
Bpifb9a A T 2: 154,104,163 (GRCm39) N202I possibly damaging Het
C1qtnf6 A T 15: 78,411,514 (GRCm39) M54K probably benign Het
Ccdc62 T C 5: 124,089,352 (GRCm39) probably null Het
Cd177 A G 7: 24,443,846 (GRCm39) C751R probably damaging Het
Clcn3 T C 8: 61,375,923 (GRCm39) I657V possibly damaging Het
Cmtm1 CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT 8: 105,036,102 (GRCm39) probably benign Het
Dag1 T C 9: 108,095,310 (GRCm39) T61A probably benign Het
Fam184b C T 5: 45,710,471 (GRCm39) G553E probably benign Het
Fkbp15 G C 4: 62,225,166 (GRCm39) A831G probably benign Het
Flt1 T C 5: 147,614,962 (GRCm39) H328R probably benign Het
Fmnl2 T A 2: 53,008,149 (GRCm39) probably null Het
Gprin2 C A 14: 33,917,397 (GRCm39) L124F probably damaging Het
Hacd2 T A 16: 34,922,374 (GRCm39) Y188N probably damaging Het
Itgad A G 7: 127,797,726 (GRCm39) T950A probably benign Het
Kit T A 5: 75,815,075 (GRCm39) I933N possibly damaging Het
Klhl11 A T 11: 100,354,589 (GRCm39) Y411N probably damaging Het
N4bp2 T C 5: 65,966,500 (GRCm39) S1313P probably damaging Het
Neurog1 T C 13: 56,399,354 (GRCm39) K131R probably damaging Het
Or11h6 T C 14: 50,880,248 (GRCm39) L170P probably damaging Het
Or5d16 T A 2: 87,773,771 (GRCm39) H67L possibly damaging Het
Otogl T C 10: 107,717,325 (GRCm39) D382G probably damaging Het
Pcdh1 A C 18: 38,331,651 (GRCm39) F590V probably damaging Het
Pcdha5 G A 18: 37,093,820 (GRCm39) V110M probably damaging Het
Pdlim3 A G 8: 46,368,284 (GRCm39) N261D probably benign Het
Pou4f1 T C 14: 104,703,347 (GRCm39) T362A unknown Het
Prlr A G 15: 10,314,221 (GRCm39) T9A probably benign Het
Psmb7 T C 2: 38,478,289 (GRCm39) Y245C probably damaging Het
Ryr3 T A 2: 112,471,917 (GRCm39) D4515V probably damaging Het
Svop T C 5: 114,198,124 (GRCm39) K149E probably damaging Het
Tlr3 A G 8: 45,851,157 (GRCm39) V56A probably benign Het
Tm4sf20 T G 1: 82,738,013 (GRCm39) I93L probably benign Het
Ugt2b5 T A 5: 87,288,111 (GRCm39) R19* probably null Het
Vmn2r28 G T 7: 5,491,668 (GRCm39) T193K probably benign Het
Vps13c A G 9: 67,802,661 (GRCm39) D654G probably damaging Het
Zfyve16 T A 13: 92,644,701 (GRCm39) Q1167L 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
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'- GACCAACTGGAAACACTTTGCC -3'
(R):5'- AGGAATCCATAATGCCAAGAGC -3'

Sequencing Primer
(F):5'- TGGAAACACTTTGCCCACGG -3'
(R):5'- CATGGAGATGTTGCAACAGACTTTG -3'
Posted On 2017-01-03