Incidental Mutation 'IGL01152:9530077C05Rik'
ID52021
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 9530077C05Rik
Ensembl Gene ENSMUSG00000036411
Gene NameRIKEN cDNA 9530077C05 gene
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01152
Quality Score
Status
Chromosome9
Chromosomal Location22411513-22444681 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 22435164 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Leucine at position 356 (H356L)
Ref Sequence ENSEMBL: ENSMUSP00000062120 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058868] [ENSMUST00000214436] [ENSMUST00000215715]
Predicted Effect probably benign
Transcript: ENSMUST00000058868
AA Change: H356L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000062120
Gene: ENSMUSG00000036411
AA Change: H356L

DomainStartEndE-ValueType
low complexity region 79 100 N/A INTRINSIC
DUF1704 202 511 1.28e-137 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213133
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213598
Predicted Effect probably benign
Transcript: ENSMUST00000214436
Predicted Effect probably benign
Transcript: ENSMUST00000215715
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A730013G03Rik T G 1: 192,833,639 noncoding transcript Het
Abcb4 G A 5: 8,950,678 V1031M probably benign Het
Abcc4 A G 14: 118,599,385 S655P probably damaging Het
Actn1 T C 12: 80,199,046 K121R probably damaging Het
Aldh1l2 T A 10: 83,522,886 R82* probably null Het
Arhgap31 T A 16: 38,602,239 H1155L possibly damaging Het
Atp8a1 G T 5: 67,847,206 P2Q probably damaging Het
Bcs1l A G 1: 74,592,015 M401V possibly damaging Het
Brca2 A T 5: 150,542,390 N1873I probably damaging Het
Cenpj T C 14: 56,552,300 N764S probably benign Het
Cfap206 C T 4: 34,721,562 S162N probably damaging Het
Clk1 A T 1: 58,413,452 C359S possibly damaging Het
Clk2 T A 3: 89,176,511 F479I probably damaging Het
Cul4b T C X: 38,543,370 M709V probably damaging Het
D130052B06Rik G T 11: 33,623,620 probably null Het
Dgkb T A 12: 38,084,234 N46K probably damaging Het
Dnah9 C T 11: 66,072,056 R1811H probably damaging Het
Dnajc18 T C 18: 35,680,873 N281S probably benign Het
Galnt5 A T 2: 58,025,393 I654L probably benign Het
Gm9989 T G 3: 81,922,211 noncoding transcript Het
Gpr179 T C 11: 97,337,411 E1306G probably benign Het
Gsc C A 12: 104,471,605 K219N probably damaging Het
Gsx2 A T 5: 75,075,791 I11F probably damaging Het
Igdcc4 A C 9: 65,135,164 E121A probably damaging Het
Lama2 C T 10: 27,208,429 R915H probably benign Het
Large2 A G 2: 92,370,639 L64P probably damaging Het
Lztr1 C A 16: 17,522,453 Q136K probably damaging Het
Mageb18 A G X: 92,119,824 W271R possibly damaging Het
Magoh A C 4: 107,885,006 probably benign Het
Mrgprx1 T C 7: 48,021,486 H171R probably benign Het
Muc1 C A 3: 89,230,754 T301K probably benign Het
Nbas C T 12: 13,360,958 L868F probably damaging Het
Nwd2 A G 5: 63,806,529 D1152G possibly damaging Het
Olfr493 C T 7: 108,346,949 A11T probably benign Het
Olfr77 G A 9: 19,920,949 V247M possibly damaging Het
Ovgp1 T A 3: 105,986,172 D420E possibly damaging Het
Pacsin3 A G 2: 91,263,776 D350G probably benign Het
Pcolce2 A T 9: 95,692,923 N309Y probably damaging Het
Pim2 C A X: 7,878,422 probably benign Het
Plcb1 A G 2: 134,813,659 Y53C probably damaging Het
Pogk T C 1: 166,408,478 E18G probably damaging Het
Pxdn T A 12: 30,001,937 D704E probably damaging Het
Rb1 C A 14: 73,205,870 S781I probably damaging Het
Rnpepl1 A G 1: 92,915,899 H247R possibly damaging Het
Scube1 A T 15: 83,613,570 F697I probably damaging Het
Sel1l3 G T 5: 53,116,333 H1064N probably damaging Het
Serinc3 A G 2: 163,636,911 Y99H probably damaging Het
Slc36a2 T A 11: 55,169,847 probably benign Het
Smarcc1 A C 9: 110,139,625 E130A possibly damaging Het
Strc A G 2: 121,370,795 M1273T probably benign Het
Tmem116 A G 5: 121,463,799 I21V probably benign Het
Tmem190 T C 7: 4,784,026 probably benign Het
Trim63 C T 4: 134,325,676 A316V probably benign Het
Ugt2b34 T C 5: 86,901,203 E321G probably damaging Het
Zfat T A 15: 68,110,504 R1053S probably damaging Het
Other mutations in 9530077C05Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01574:9530077C05Rik APN 9 22444130 missense possibly damaging 0.75
IGL01666:9530077C05Rik APN 9 22431698 missense probably benign 0.08
IGL02111:9530077C05Rik APN 9 22424179 missense probably benign
IGL02310:9530077C05Rik APN 9 22424428 missense probably benign 0.01
IGL02638:9530077C05Rik APN 9 22430479 nonsense probably null
LCD18:9530077C05Rik UTSW 9 22442083 intron probably benign
R1239:9530077C05Rik UTSW 9 22424699 intron probably benign
R1519:9530077C05Rik UTSW 9 22430375 missense probably benign 0.01
R2248:9530077C05Rik UTSW 9 22444114 missense probably benign 0.36
R2438:9530077C05Rik UTSW 9 22431683 missense probably damaging 0.99
R4838:9530077C05Rik UTSW 9 22424377 missense probably damaging 0.98
R5304:9530077C05Rik UTSW 9 22424232 missense probably benign 0.28
R5418:9530077C05Rik UTSW 9 22431770 missense probably damaging 1.00
R5460:9530077C05Rik UTSW 9 22439920 missense probably benign 0.01
R5652:9530077C05Rik UTSW 9 22424490 missense probably benign 0.00
R6008:9530077C05Rik UTSW 9 22424126 nonsense probably null
Posted On2013-06-21