Incidental Mutation 'IGL01555:4833420G17Rik'
ID 90696
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 4833420G17Rik
Ensembl Gene ENSMUSG00000062822
Gene Name RIKEN cDNA 4833420G17 gene
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01555
Quality Score
Status
Chromosome 13
Chromosomal Location 119599304-119622656 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 119610443 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 372 (H372R)
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 probably benign
Transcript: ENSMUST00000026519
AA Change: H372R

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000026519
Gene: ENSMUSG00000062822
AA Change: H372R

DomainStartEndE-ValueType
Pfam:DUF4524 9 154 5e-61 PFAM
Pfam:DUF4520 451 542 8.6e-37 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000048965
Predicted Effect probably benign
Transcript: ENSMUST00000224081
Predicted Effect probably benign
Transcript: ENSMUST00000224312
AA Change: H372R

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
Predicted Effect probably benign
Transcript: ENSMUST00000225186
AA Change: H372R

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
Predicted Effect probably benign
Transcript: ENSMUST00000225726
AA Change: H372R

PolyPhen 2 Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 18 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A3galt2 G A 4: 128,655,851 (GRCm39) C73Y probably damaging Het
Arid4a C T 12: 71,108,301 (GRCm39) probably benign Het
Ascc3 T C 10: 50,626,618 (GRCm39) V1706A probably damaging Het
Boll A G 1: 55,344,827 (GRCm39) probably benign Het
Camsap1 A T 2: 25,829,405 (GRCm39) M773K possibly damaging Het
Dhx9 A T 1: 153,335,312 (GRCm39) D929E probably damaging Het
Ect2l A G 10: 18,006,478 (GRCm39) L775P probably damaging Het
Fat2 A T 11: 55,169,756 (GRCm39) V3001D probably damaging Het
Kcnh6 A T 11: 105,908,445 (GRCm39) I354F probably damaging Het
Nemp2 T A 1: 52,680,202 (GRCm39) V142E probably damaging Het
Nipal2 A T 15: 34,600,264 (GRCm39) probably benign Het
Otop1 A G 5: 38,460,188 (GRCm39) Y585C probably damaging Het
Peli3 T C 19: 4,985,086 (GRCm39) T108A probably damaging Het
Pramel6 T C 2: 87,341,129 (GRCm39) probably benign Het
Rbfa G A 18: 80,241,015 (GRCm39) T83I possibly damaging Het
Speer1k A T 5: 10,999,051 (GRCm39) probably benign Het
Sstr2 A T 11: 113,516,445 (GRCm39) I342F probably benign Het
Tll2 T A 19: 41,074,805 (GRCm39) I920L probably benign Het
Other mutations in 4833420G17Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01531:4833420G17Rik APN 13 119,603,494 (GRCm39) critical splice donor site probably null
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
R6255:4833420G17Rik UTSW 13 119,602,659 (GRCm39) missense possibly damaging 0.95
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
Posted On 2013-12-09