Incidental Mutation 'IGL01621:0610040J01Rik'
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ID92615
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 0610040J01Rik
Ensembl Gene ENSMUSG00000060512
Gene NameRIKEN cDNA 0610040J01 gene
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.165) question?
Stock #IGL01621
Quality Score
Status
Chromosome5
Chromosomal Location63812495-63899619 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 63898383 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Isoleucine at position 154 (T154I)
Ref Sequence ENSEMBL: ENSMUSP00000142539 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081747] [ENSMUST00000196575] [ENSMUST00000199667]
Predicted Effect possibly damaging
Transcript: ENSMUST00000081747
AA Change: T154I

PolyPhen 2 Score 0.624 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000080443
Gene: ENSMUSG00000060512
AA Change: T154I

DomainStartEndE-ValueType
Pfam:DUF4699 9 313 2.5e-123 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000196575
AA Change: T154I

PolyPhen 2 Score 0.451 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect possibly damaging
Transcript: ENSMUST00000199667
AA Change: T154I

PolyPhen 2 Score 0.786 (Sensitivity: 0.85; Specificity: 0.93)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933434E20Rik T A 3: 90,064,502 M56K possibly damaging Het
5730559C18Rik C A 1: 136,219,775 A402S probably damaging Het
A730017C20Rik A G 18: 59,062,386 M1V probably null Het
Abca6 A G 11: 110,184,708 L1319S probably damaging Het
Adh4 C T 3: 138,429,027 probably benign Het
Aloxe3 A G 11: 69,130,013 N188S probably benign Het
Ap1s1 G A 5: 137,041,804 R119* probably null Het
Apc2 T G 10: 80,306,201 L318R probably damaging Het
Atg101 A G 15: 101,287,095 S33G possibly damaging Het
Atp8a2 A T 14: 60,015,868 probably benign Het
Bpifb9b C A 2: 154,316,951 probably null Het
Braf A T 6: 39,646,853 noncoding transcript Het
Cabp5 A G 7: 13,401,264 D43G probably damaging Het
Cfap46 T C 7: 139,606,607 N242S probably benign Het
Cit C T 5: 115,992,603 noncoding transcript Het
Cpa4 T C 6: 30,574,416 V68A probably damaging Het
Cyp2j5 T C 4: 96,629,554 I474V probably benign Het
Dennd1a C A 2: 37,844,809 D49Y probably damaging Het
Dlg5 T C 14: 24,148,221 D1525G probably damaging Het
Dnajc18 C T 18: 35,680,840 R292H probably benign Het
Dync2h1 A G 9: 7,140,897 probably null Het
E2f6 A G 12: 16,825,368 D268G probably benign Het
Evi2b T A 11: 79,516,300 T150S probably damaging Het
F13b A G 1: 139,503,851 D53G probably benign Het
Fbxo38 G A 18: 62,522,524 probably benign Het
Flnb C T 14: 7,950,470 P2596L probably damaging Het
Fyco1 A G 9: 123,827,182 probably benign Het
Gm13023 T C 4: 143,793,932 F249L probably benign Het
Gm21759 A G 5: 8,179,775 noncoding transcript Het
Gtse1 A G 15: 85,875,082 N597S probably benign Het
Hcn3 G T 3: 89,147,723 S739Y probably damaging Het
Ighv9-4 T A 12: 114,299,992 N107I probably damaging Het
Iqub T C 6: 24,446,212 K738E probably benign Het
Itga6 A T 2: 71,825,656 D308V probably benign Het
Klf12 T C 14: 100,023,149 Y48C possibly damaging Het
Klhdc9 A G 1: 171,358,816 *351Q probably null Het
Krt40 A T 11: 99,542,868 N97K probably damaging Het
Lrit1 A C 14: 37,060,155 T262P probably damaging Het
Mcoln1 T C 8: 3,510,910 Y411H probably damaging Het
Mfsd4a A G 1: 132,054,143 S149P probably benign Het
Mipep A G 14: 60,796,165 probably benign Het
Mslnl A G 17: 25,743,667 noncoding transcript Het
N4bp2 A T 5: 65,790,924 H299L probably damaging Het
Nbn C T 4: 15,965,221 P190S probably benign Het
Nos1 T A 5: 117,945,884 I1287N probably damaging Het
Nup210 G T 6: 91,030,117 F572L probably damaging Het
Olfr1381 T C 11: 49,552,137 L130P probably damaging Het
Olfr370 T C 8: 83,541,618 V158A probably benign Het
Olfr390 T C 11: 73,787,277 F113S possibly damaging Het
P4htm T A 9: 108,583,736 E106V probably damaging Het
Pcdhb20 C T 18: 37,504,807 H129Y possibly damaging Het
Pdcd6ip T C 9: 113,685,422 E240G probably benign Het
Pex5l T C 3: 33,014,961 probably null Het
Plcd1 T C 9: 119,076,178 N155S probably damaging Het
Plekhg6 G T 6: 125,372,099 L412M probably damaging Het
Ppp1r13b T A 12: 111,835,092 Q509L probably benign Het
Prpf40b A G 15: 99,310,045 noncoding transcript Het
Rdh11 C T 12: 79,186,413 probably null Het
Ripor3 A T 2: 167,997,252 S110T probably damaging Het
Sec24d G A 3: 123,294,158 probably null Het
Secisbp2l T C 2: 125,773,211 S165G probably benign Het
Shank1 C T 7: 44,342,465 A698V unknown Het
Shank1 T C 7: 44,351,599 M914T unknown Het
Slc22a3 T C 17: 12,458,492 Q263R probably benign Het
Smc1a C A X: 152,036,129 Q647K probably damaging Het
Sohlh1 A G 2: 25,846,861 probably benign Het
Tacc2 C A 7: 130,729,768 T2301K possibly damaging Het
Ubr4 G T 4: 139,440,783 E2825* probably null Het
Wbp2nl G A 15: 82,308,605 M163I probably benign Het
Zfp69 T A 4: 120,931,500 K206M probably damaging Het
Zswim3 G A 2: 164,821,520 R640H probably damaging Het
Other mutations in 0610040J01Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02229:0610040J01Rik APN 5 63898353 missense probably damaging 0.99
IGL02389:0610040J01Rik APN 5 63896483 unclassified probably null 1.00
IGL02411:0610040J01Rik APN 5 63898116 missense probably benign 0.31
R0243:0610040J01Rik UTSW 5 63898463 missense probably benign 0.10
R0411:0610040J01Rik UTSW 5 63896491 splice site probably benign
R1978:0610040J01Rik UTSW 5 63898537 nonsense probably null
R2072:0610040J01Rik UTSW 5 63898737 missense possibly damaging 0.83
R2202:0610040J01Rik UTSW 5 63898668 missense possibly damaging 0.91
R3161:0610040J01Rik UTSW 5 63896490 splice site probably benign
R3162:0610040J01Rik UTSW 5 63896490 splice site probably benign
R4428:0610040J01Rik UTSW 5 63898839 missense unknown
R4429:0610040J01Rik UTSW 5 63898839 missense unknown
R4430:0610040J01Rik UTSW 5 63898839 missense unknown
R4431:0610040J01Rik UTSW 5 63898839 missense unknown
R4464:0610040J01Rik UTSW 5 63898839 missense unknown
R4465:0610040J01Rik UTSW 5 63898839 missense unknown
R4467:0610040J01Rik UTSW 5 63898839 missense unknown
R4491:0610040J01Rik UTSW 5 63898469 missense probably damaging 1.00
R5161:0610040J01Rik UTSW 5 63898001 nonsense probably null
R6115:0610040J01Rik UTSW 5 63897974 missense probably damaging 1.00
R6273:0610040J01Rik UTSW 5 63898218 missense probably damaging 1.00
Posted OnDec 09, 2013