Incidental Mutation 'R6255:4833420G17Rik'
ID 506073
Institutional Source Beutler Lab
Gene Symbol 4833420G17Rik
Ensembl Gene ENSMUSG00000062822
Gene Name RIKEN cDNA 4833420G17 gene
Synonyms
MMRRC Submission 044372-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6255 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 119599304-119622656 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 119602659 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 7 (V7E)
Ref Sequence ENSEMBL: ENSMUSP00000153338 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026519] [ENSMUST00000224081] [ENSMUST00000224312] [ENSMUST00000225186] [ENSMUST00000225726]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000026519
AA Change: V7E

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000026519
Gene: ENSMUSG00000062822
AA Change: V7E

DomainStartEndE-ValueType
Pfam:DUF4524 9 154 5e-61 PFAM
Pfam:DUF4520 451 542 8.6e-37 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000224081
AA Change: V7E

PolyPhen 2 Score 0.708 (Sensitivity: 0.86; Specificity: 0.92)
Predicted Effect possibly damaging
Transcript: ENSMUST00000224312
AA Change: V7E

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
Predicted Effect possibly damaging
Transcript: ENSMUST00000225186
AA Change: V7E

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225292
Predicted Effect possibly damaging
Transcript: ENSMUST00000225726
AA Change: V7E

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.8%
Validation Efficiency 100% (58/58)
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars2 G A 17: 45,825,535 (GRCm39) G333S probably damaging Het
Aen T A 7: 78,555,592 (GRCm39) I85N probably damaging Het
Ahnak C A 19: 8,985,389 (GRCm39) H2224Q possibly damaging Het
Aldh18a1 C T 19: 40,568,487 (GRCm39) R41H possibly damaging Het
Bpifb9b T A 2: 154,151,284 (GRCm39) W2R probably damaging Het
Caprin2 A G 6: 148,779,390 (GRCm39) I139T probably benign Het
Cdhr3 T A 12: 33,103,474 (GRCm39) N381I probably damaging Het
Cecr2 A G 6: 120,735,011 (GRCm39) Y721C probably damaging Het
Cfhr4 A T 1: 139,680,749 (GRCm39) C256* probably null Het
Cherp G T 8: 73,224,725 (GRCm39) A125D probably damaging Het
Cped1 G A 6: 22,138,714 (GRCm39) probably null Het
Ctdp1 T A 18: 80,502,512 (GRCm39) probably null Het
Cyp2c55 T C 19: 39,007,111 (GRCm39) I169T probably benign Het
Cyp4a31 T C 4: 115,432,117 (GRCm39) L418P possibly damaging Het
Efcab7 T C 4: 99,717,627 (GRCm39) probably benign Het
Efcab8 T C 2: 153,652,188 (GRCm39) W466R possibly damaging Het
Ehd3 C A 17: 74,112,408 (GRCm39) N57K probably benign Het
Ern2 C A 7: 121,772,495 (GRCm39) K654N probably damaging Het
Fbh1 A T 2: 11,753,257 (GRCm39) F879L probably benign Het
Gde1 T C 7: 118,291,004 (GRCm39) D92G probably null Het
Heatr5b A G 17: 79,110,863 (GRCm39) V995A probably damaging Het
Ifrd2 A G 9: 107,469,290 (GRCm39) E346G probably damaging Het
Ism1 AACGGACCCGTTCTTGTGGCTATGCA AA 2: 139,587,962 (GRCm39) probably benign Het
Itgb4 T C 11: 115,888,963 (GRCm39) V1102A possibly damaging Het
Itgb6 A T 2: 60,435,620 (GRCm39) I710N probably damaging Het
Kif1a T C 1: 92,947,705 (GRCm39) K1578E probably damaging Het
Kif9 T C 9: 110,346,902 (GRCm39) probably null Het
Kitl T C 10: 99,925,095 (GRCm39) *57Q probably null Het
Lrat C A 3: 82,810,812 (GRCm39) V70F probably damaging Het
Lrrc9 T A 12: 72,533,797 (GRCm39) M1022K probably benign Het
Muc16 T C 9: 18,566,895 (GRCm39) T1875A unknown Het
Mup4 T A 4: 59,957,890 (GRCm39) N171I probably damaging Het
Npas4 G A 19: 5,036,403 (GRCm39) T587I probably damaging Het
Oas3 A G 5: 120,909,295 (GRCm39) V217A probably benign Het
Or6c1b A G 10: 129,273,557 (GRCm39) N292S possibly damaging Het
Osbp C A 19: 11,955,317 (GRCm39) A323D possibly damaging Het
Panx2 G A 15: 88,951,821 (GRCm39) R96H probably damaging Het
Pcdhb18 G A 18: 37,623,537 (GRCm39) R289Q probably benign Het
Piezo2 T C 18: 63,254,341 (GRCm39) R385G possibly damaging Het
Pkn2 T C 3: 142,517,360 (GRCm39) T476A probably damaging Het
Plekha4 T C 7: 45,203,226 (GRCm39) probably benign Het
Ppfibp2 T C 7: 107,280,969 (GRCm39) S94P probably damaging Het
Pramel7 T A 2: 87,320,007 (GRCm39) I429L probably benign Het
Rif1 A G 2: 51,975,065 (GRCm39) K325E probably damaging Het
Ror2 T C 13: 53,264,578 (GRCm39) Y826C probably damaging Het
Rsph10b G A 5: 143,896,564 (GRCm39) G19R probably damaging Het
Slc20a1 A G 2: 129,049,924 (GRCm39) N361D probably damaging Het
Slc26a9 A G 1: 131,691,647 (GRCm39) D630G probably benign Het
Smtnl2 G A 11: 72,292,225 (GRCm39) A274V probably damaging Het
Trank1 T C 9: 111,181,314 (GRCm39) probably null Het
Tspan10 T A 11: 120,335,368 (GRCm39) C159* probably null Het
Uba6 G A 5: 86,312,624 (GRCm39) T23I probably benign Het
Vmn2r74 T C 7: 85,601,659 (GRCm39) T660A possibly damaging Het
Vwa5b1 T C 4: 138,305,983 (GRCm39) N905S probably benign Het
Zfp831 T C 2: 174,488,214 (GRCm39) L963P possibly damaging Het
Zfp990 T A 4: 145,264,359 (GRCm39) N452K probably benign Het
Other mutations in 4833420G17Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01531:4833420G17Rik APN 13 119,603,494 (GRCm39) critical splice donor site probably null
IGL01555:4833420G17Rik APN 13 119,610,443 (GRCm39) missense probably benign 0.10
IGL02395:4833420G17Rik APN 13 119,617,496 (GRCm39) missense probably damaging 1.00
IGL02725:4833420G17Rik APN 13 119,611,445 (GRCm39) missense possibly damaging 0.95
IGL02904:4833420G17Rik APN 13 119,620,990 (GRCm39) missense probably damaging 1.00
IGL03126:4833420G17Rik APN 13 119,617,563 (GRCm39) missense probably benign 0.23
R0410:4833420G17Rik UTSW 13 119,606,268 (GRCm39) missense probably benign
R0437:4833420G17Rik UTSW 13 119,606,631 (GRCm39) missense probably benign 0.35
R0513:4833420G17Rik UTSW 13 119,606,195 (GRCm39) missense probably benign 0.13
R0569:4833420G17Rik UTSW 13 119,621,016 (GRCm39) missense possibly damaging 0.94
R0788:4833420G17Rik UTSW 13 119,610,468 (GRCm39) nonsense probably null
R1495:4833420G17Rik UTSW 13 119,614,356 (GRCm39) missense probably benign 0.17
R1617:4833420G17Rik UTSW 13 119,603,473 (GRCm39) missense probably damaging 1.00
R1905:4833420G17Rik UTSW 13 119,606,216 (GRCm39) missense possibly damaging 0.92
R1914:4833420G17Rik UTSW 13 119,622,386 (GRCm39) missense possibly damaging 0.90
R2169:4833420G17Rik UTSW 13 119,622,349 (GRCm39) missense probably benign 0.09
R4238:4833420G17Rik UTSW 13 119,603,478 (GRCm39) missense probably benign 0.00
R4240:4833420G17Rik UTSW 13 119,603,478 (GRCm39) missense probably benign 0.00
R4295:4833420G17Rik UTSW 13 119,606,249 (GRCm39) missense probably benign 0.02
R4469:4833420G17Rik UTSW 13 119,606,345 (GRCm39) missense probably damaging 1.00
R4643:4833420G17Rik UTSW 13 119,611,396 (GRCm39) missense probably damaging 0.97
R4964:4833420G17Rik UTSW 13 119,610,757 (GRCm39) intron probably benign
R4966:4833420G17Rik UTSW 13 119,610,757 (GRCm39) intron probably benign
R5093:4833420G17Rik UTSW 13 119,610,573 (GRCm39) utr 3 prime probably benign
R5384:4833420G17Rik UTSW 13 119,606,496 (GRCm39) missense probably benign 0.01
R6491:4833420G17Rik UTSW 13 119,612,508 (GRCm39) missense probably damaging 1.00
R6564:4833420G17Rik UTSW 13 119,622,613 (GRCm39) splice site probably null
R7023:4833420G17Rik UTSW 13 119,610,443 (GRCm39) missense probably benign 0.10
R7574:4833420G17Rik UTSW 13 119,606,478 (GRCm39) missense probably damaging 0.99
R9218:4833420G17Rik UTSW 13 119,610,460 (GRCm39) missense probably damaging 0.96
R9508:4833420G17Rik UTSW 13 119,617,484 (GRCm39) missense
R9521:4833420G17Rik UTSW 13 119,608,778 (GRCm39) critical splice donor site probably null
R9567:4833420G17Rik UTSW 13 119,602,793 (GRCm39) missense probably damaging 1.00
R9759:4833420G17Rik UTSW 13 119,615,989 (GRCm39) missense probably damaging 1.00
Z1176:4833420G17Rik UTSW 13 119,614,344 (GRCm39) missense not run
Z1177:4833420G17Rik UTSW 13 119,614,344 (GRCm39) missense not run
Predicted Primers PCR Primer
(F):5'- AAGTCCTCGGGATTCCTCAAG -3'
(R):5'- GCTAATAACAAAGTGTGTCCGTTGAC -3'

Sequencing Primer
(F):5'- ATTCCTCAAGGCAGTTTGTGAAG -3'
(R):5'- ACGGATTCTCTCTGGTTGTTCTAAAG -3'
Posted On 2018-02-28