Incidental Mutation 'IGL03007:9330159F19Rik'
ID 407597
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 9330159F19Rik
Ensembl Gene ENSMUSG00000004360
Gene Name RIKEN cDNA 9330159F19 gene
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.063) question?
Stock # IGL03007
Quality Score
Status
Chromosome 10
Chromosomal Location 29087602-29106775 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 29098034 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 144 (N144D)
Ref Sequence ENSEMBL: ENSMUSP00000149712 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092627] [ENSMUST00000213489] [ENSMUST00000213490] [ENSMUST00000217011]
AlphaFold D3Z623
Predicted Effect probably benign
Transcript: ENSMUST00000092627
AA Change: N144D

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000090291
Gene: ENSMUSG00000004360
AA Change: N144D

DomainStartEndE-ValueType
Pfam:DUF4482 15 152 3e-43 PFAM
low complexity region 270 286 N/A INTRINSIC
low complexity region 616 635 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000213489
AA Change: N144D

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
Predicted Effect possibly damaging
Transcript: ENSMUST00000213490
AA Change: N144D

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
Predicted Effect probably benign
Transcript: ENSMUST00000217011
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A830031A19Rik T C 11: 23,999,248 (GRCm39) probably benign Het
Ankfy1 T C 11: 72,641,347 (GRCm39) F640S probably damaging Het
Asb8 A G 15: 98,040,615 (GRCm39) Y16H probably damaging Het
Astn1 T C 1: 158,496,193 (GRCm39) probably benign Het
Btbd8 T A 5: 107,651,542 (GRCm39) V145E probably benign Het
Celf3 A G 3: 94,394,444 (GRCm39) T183A probably benign Het
Dctn1 T C 6: 83,159,690 (GRCm39) V56A probably damaging Het
Erbb2 A C 11: 98,319,819 (GRCm39) probably benign Het
Ighv6-4 A T 12: 114,370,213 (GRCm39) Y80N possibly damaging Het
Igsf9b T C 9: 27,244,378 (GRCm39) S782P probably damaging Het
Itsn1 A T 16: 91,581,050 (GRCm39) probably benign Het
Kcnt2 T A 1: 140,282,245 (GRCm39) Y77N possibly damaging Het
Lig3 T C 11: 82,680,401 (GRCm39) F359S probably damaging Het
Mtmr6 G T 14: 60,526,984 (GRCm39) probably benign Het
Muc4 C T 16: 32,570,866 (GRCm39) S642F possibly damaging Het
Ncoa1 T A 12: 4,389,114 (GRCm39) I54F possibly damaging Het
Nfx1 C A 4: 40,984,962 (GRCm39) T362K probably benign Het
Ntrk1 T C 3: 87,690,050 (GRCm39) S449G possibly damaging Het
Odc1 T A 12: 17,598,811 (GRCm39) H230Q probably benign Het
Or10d4 T C 9: 39,580,767 (GRCm39) V138A possibly damaging Het
Or10h28 A G 17: 33,487,857 (GRCm39) E53G probably damaging Het
Or1j19 T C 2: 36,676,812 (GRCm39) S92P probably damaging Het
Or8d1 C T 9: 38,766,592 (GRCm39) T78I probably damaging Het
Plekhh2 A C 17: 84,882,388 (GRCm39) S665R possibly damaging Het
Qpct T A 17: 79,378,294 (GRCm39) F155I probably damaging Het
Rcor2 C A 19: 7,251,718 (GRCm39) T379K probably benign Het
Rint1 A G 5: 24,020,699 (GRCm39) N574S probably benign Het
Rsbn1 C T 3: 103,836,195 (GRCm39) A411V probably damaging Het
Sbno2 A T 10: 79,894,384 (GRCm39) probably benign Het
Sptb A G 12: 76,668,115 (GRCm39) S661P probably damaging Het
Syn3 A T 10: 85,900,778 (GRCm39) M370K possibly damaging Het
Tex101 G A 7: 24,369,906 (GRCm39) probably benign Het
Tmem255b C T 8: 13,507,066 (GRCm39) T265I possibly damaging Het
Trio G T 15: 27,902,828 (GRCm39) A211D probably damaging Het
Zfp638 C A 6: 83,961,866 (GRCm39) Q1902K probably damaging Het
Other mutations in 9330159F19Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00958:9330159F19Rik APN 10 29,103,324 (GRCm39) missense probably benign 0.13
IGL01766:9330159F19Rik APN 10 29,100,557 (GRCm39) missense probably benign 0.00
IGL01896:9330159F19Rik APN 10 29,101,154 (GRCm39) missense possibly damaging 0.84
IGL01988:9330159F19Rik APN 10 29,101,107 (GRCm39) missense probably benign 0.08
PIT1430001:9330159F19Rik UTSW 10 29,100,711 (GRCm39) missense probably damaging 1.00
R0256:9330159F19Rik UTSW 10 29,098,252 (GRCm39) missense probably damaging 1.00
R0490:9330159F19Rik UTSW 10 29,103,338 (GRCm39) missense probably damaging 0.99
R1755:9330159F19Rik UTSW 10 29,098,290 (GRCm39) missense possibly damaging 0.92
R1759:9330159F19Rik UTSW 10 29,094,272 (GRCm39) missense possibly damaging 0.51
R1836:9330159F19Rik UTSW 10 29,097,795 (GRCm39) missense probably damaging 0.98
R2373:9330159F19Rik UTSW 10 29,101,039 (GRCm39) missense probably benign 0.00
R2511:9330159F19Rik UTSW 10 29,097,902 (GRCm39) missense probably damaging 0.96
R3113:9330159F19Rik UTSW 10 29,100,372 (GRCm39) nonsense probably null
R3755:9330159F19Rik UTSW 10 29,098,110 (GRCm39) missense probably damaging 0.98
R3954:9330159F19Rik UTSW 10 29,100,805 (GRCm39) missense possibly damaging 0.92
R3956:9330159F19Rik UTSW 10 29,100,805 (GRCm39) missense possibly damaging 0.92
R3957:9330159F19Rik UTSW 10 29,100,805 (GRCm39) missense possibly damaging 0.92
R4321:9330159F19Rik UTSW 10 29,100,887 (GRCm39) missense probably damaging 1.00
R4510:9330159F19Rik UTSW 10 29,100,819 (GRCm39) missense probably benign
R4511:9330159F19Rik UTSW 10 29,100,819 (GRCm39) missense probably benign
R4717:9330159F19Rik UTSW 10 29,097,783 (GRCm39) missense probably damaging 1.00
R5336:9330159F19Rik UTSW 10 29,100,495 (GRCm39) missense probably damaging 0.98
R5401:9330159F19Rik UTSW 10 29,101,136 (GRCm39) missense probably benign 0.03
R5585:9330159F19Rik UTSW 10 29,101,271 (GRCm39) missense possibly damaging 0.95
R5635:9330159F19Rik UTSW 10 29,094,273 (GRCm39) missense possibly damaging 0.93
R5647:9330159F19Rik UTSW 10 29,101,250 (GRCm39) missense probably damaging 0.99
R6831:9330159F19Rik UTSW 10 29,100,675 (GRCm39) missense probably benign 0.44
R7085:9330159F19Rik UTSW 10 29,100,476 (GRCm39) missense probably damaging 0.96
R7779:9330159F19Rik UTSW 10 29,101,316 (GRCm39) missense probably damaging 1.00
R7813:9330159F19Rik UTSW 10 29,100,896 (GRCm39) missense probably benign 0.41
R8209:9330159F19Rik UTSW 10 29,094,195 (GRCm39) missense probably damaging 0.99
R8224:9330159F19Rik UTSW 10 29,094,249 (GRCm39) missense probably damaging 1.00
R8226:9330159F19Rik UTSW 10 29,094,195 (GRCm39) missense probably damaging 0.99
R8492:9330159F19Rik UTSW 10 29,094,243 (GRCm39) missense possibly damaging 0.95
R8832:9330159F19Rik UTSW 10 29,100,341 (GRCm39) missense probably damaging 1.00
R9369:9330159F19Rik UTSW 10 29,100,974 (GRCm39) missense probably damaging 1.00
R9665:9330159F19Rik UTSW 10 29,103,344 (GRCm39) missense probably benign 0.03
R9722:9330159F19Rik UTSW 10 29,094,269 (GRCm39) missense probably benign 0.39
R9796:9330159F19Rik UTSW 10 29,101,349 (GRCm39) missense possibly damaging 0.94
Posted On 2016-08-02