Incidental Mutation 'IGL02009:C530008M17Rik'
ID182296
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol C530008M17Rik
Ensembl Gene ENSMUSG00000036377
Gene NameRIKEN cDNA C530008M17 gene
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02009
Quality Score
Status
Chromosome5
Chromosomal Location76656512-76873554 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 76848970 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 92 (T92A)
Ref Sequence ENSEMBL: ENSMUSP00000127212 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000120639] [ENSMUST00000121160] [ENSMUST00000163347]
Predicted Effect possibly damaging
Transcript: ENSMUST00000120639
AA Change: T92A

PolyPhen 2 Score 0.612 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000113796
Gene: ENSMUSG00000036377
AA Change: T92A

DomainStartEndE-ValueType
Pfam:DUF4592 44 173 1.7e-45 PFAM
low complexity region 210 220 N/A INTRINSIC
coiled coil region 224 291 N/A INTRINSIC
coiled coil region 328 482 N/A INTRINSIC
low complexity region 533 547 N/A INTRINSIC
low complexity region 580 593 N/A INTRINSIC
low complexity region 875 888 N/A INTRINSIC
internal_repeat_1 947 1025 1.47e-5 PROSPERO
low complexity region 1034 1047 N/A INTRINSIC
internal_repeat_1 1065 1122 1.47e-5 PROSPERO
low complexity region 1268 1280 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000121160
AA Change: T92A

PolyPhen 2 Score 0.612 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000113947
Gene: ENSMUSG00000036377
AA Change: T92A

DomainStartEndE-ValueType
Pfam:DUF4592 45 172 1.8e-41 PFAM
low complexity region 210 220 N/A INTRINSIC
coiled coil region 224 291 N/A INTRINSIC
coiled coil region 328 482 N/A INTRINSIC
low complexity region 533 547 N/A INTRINSIC
low complexity region 580 593 N/A INTRINSIC
low complexity region 875 888 N/A INTRINSIC
low complexity region 1034 1047 N/A INTRINSIC
low complexity region 1271 1283 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000163347
AA Change: T92A

PolyPhen 2 Score 0.612 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000127212
Gene: ENSMUSG00000036377
AA Change: T92A

DomainStartEndE-ValueType
Pfam:DUF4592 44 173 1.7e-45 PFAM
low complexity region 210 220 N/A INTRINSIC
coiled coil region 224 291 N/A INTRINSIC
coiled coil region 328 482 N/A INTRINSIC
low complexity region 533 547 N/A INTRINSIC
low complexity region 580 593 N/A INTRINSIC
low complexity region 875 888 N/A INTRINSIC
internal_repeat_1 947 1025 1.47e-5 PROSPERO
low complexity region 1034 1047 N/A INTRINSIC
internal_repeat_1 1065 1122 1.47e-5 PROSPERO
low complexity region 1268 1280 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930548H24Rik C T 5: 31,487,491 T196I probably benign Het
Aldh1a3 T C 7: 66,402,041 D388G probably benign Het
Ankhd1 C A 18: 36,624,661 Q803K probably damaging Het
Arrdc3 A G 13: 80,893,380 N180S probably benign Het
Atp11b G A 3: 35,814,152 E458K probably benign Het
Bend6 G A 1: 33,862,746 A185V probably benign Het
Chd5 A G 4: 152,366,213 D632G probably damaging Het
Clec4a1 A T 6: 122,932,216 H181L probably benign Het
Cntnap5a T A 1: 116,157,494 D387E probably benign Het
Colq G A 14: 31,535,642 S256F possibly damaging Het
Ctdp1 A G 18: 80,455,972 Y252H probably damaging Het
Cyp4f17 T A 17: 32,524,880 L344Q probably damaging Het
Fam83b A G 9: 76,492,322 Y500H probably damaging Het
Gapvd1 G A 2: 34,704,191 P949L probably damaging Het
Gp5 A G 16: 30,309,664 I64T probably benign Het
Il31ra A G 13: 112,533,867 V248A probably damaging Het
Kdm4a C T 4: 118,160,169 A567T probably benign Het
Kpna7 T C 5: 144,994,078 probably null Het
Lrrc8c G A 5: 105,607,391 R344H probably damaging Het
Man1a G A 10: 53,925,525 L413F probably damaging Het
Man1a2 A T 3: 100,684,662 D67E probably damaging Het
Mkln1 G A 6: 31,449,520 S243N probably benign Het
Mmp19 T A 10: 128,798,487 M299K probably benign Het
Msantd2 T C 9: 37,523,390 F309L possibly damaging Het
Mstn A G 1: 53,062,150 probably benign Het
Nat8f5 A C 6: 85,817,426 I184R probably benign Het
Olfr1160 G T 2: 88,006,773 Q2K probably benign Het
Olfr1173 C T 2: 88,274,712 M112I probably benign Het
Pigc A G 1: 161,970,565 K39E probably damaging Het
Pms2 T A 5: 143,925,764 L563Q probably benign Het
Rpap1 A G 2: 119,780,113 S162P possibly damaging Het
Rpl3l A G 17: 24,732,433 K103E probably damaging Het
Slc45a1 A T 4: 150,637,990 V479E probably damaging Het
Themis2 A T 4: 132,785,442 L491Q probably damaging Het
Vmn2r17 A T 5: 109,452,848 I671L possibly damaging Het
Vmn2r6 C A 3: 64,537,902 V712L possibly damaging Het
Zzz3 A G 3: 152,428,115 D270G possibly damaging Het
Other mutations in C530008M17Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00470:C530008M17Rik APN 5 76866056 unclassified probably benign
IGL00660:C530008M17Rik APN 5 76854933 critical splice acceptor site probably null
IGL00924:C530008M17Rik APN 5 76858986 missense unknown
IGL01025:C530008M17Rik APN 5 76658074 intron probably benign
IGL01122:C530008M17Rik APN 5 76870675 makesense probably null
IGL01393:C530008M17Rik APN 5 76858971 missense unknown
IGL01526:C530008M17Rik APN 5 76857631 missense unknown
IGL01986:C530008M17Rik APN 5 76858610 missense unknown
IGL02724:C530008M17Rik APN 5 76858459 missense unknown
IGL02869:C530008M17Rik APN 5 76859043 missense unknown
IGL03030:C530008M17Rik APN 5 76857616 missense unknown
IGL03150:C530008M17Rik APN 5 76867250 missense probably damaging 0.99
LCD18:C530008M17Rik UTSW 5 76658742 intron probably benign
R0975:C530008M17Rik UTSW 5 76856318 splice site probably benign
R1329:C530008M17Rik UTSW 5 76657932 intron probably benign
R1439:C530008M17Rik UTSW 5 76840910 missense probably damaging 0.99
R1750:C530008M17Rik UTSW 5 76857675 missense unknown
R1773:C530008M17Rik UTSW 5 76867205 missense possibly damaging 0.54
R1885:C530008M17Rik UTSW 5 76856742 missense unknown
R1924:C530008M17Rik UTSW 5 76858623 missense unknown
R2483:C530008M17Rik UTSW 5 76856409 missense probably damaging 0.98
R3840:C530008M17Rik UTSW 5 76859011 missense unknown
R3841:C530008M17Rik UTSW 5 76859011 missense unknown
R3874:C530008M17Rik UTSW 5 76840892 missense probably damaging 1.00
R3883:C530008M17Rik UTSW 5 76856574 missense unknown
R4033:C530008M17Rik UTSW 5 76858465 missense unknown
R4401:C530008M17Rik UTSW 5 76848916 missense probably damaging 0.98
R4749:C530008M17Rik UTSW 5 76858834 missense unknown
R4884:C530008M17Rik UTSW 5 76848835 missense probably damaging 1.00
R4980:C530008M17Rik UTSW 5 76857574 missense unknown
R5010:C530008M17Rik UTSW 5 76657834 utr 5 prime probably benign
R5086:C530008M17Rik UTSW 5 76857124 missense unknown
R5468:C530008M17Rik UTSW 5 76840763 intron probably benign
R5786:C530008M17Rik UTSW 5 76866196 splice site probably null
R5813:C530008M17Rik UTSW 5 76858428 missense unknown
R5866:C530008M17Rik UTSW 5 76857537 missense unknown
R5928:C530008M17Rik UTSW 5 76841734 intron probably benign
R6273:C530008M17Rik UTSW 5 76857721 missense unknown
R6577:C530008M17Rik UTSW 5 76866100 unclassified probably benign
R6838:C530008M17Rik UTSW 5 76858209 missense unknown
R6849:C530008M17Rik UTSW 5 76857010 missense unknown
R6849:C530008M17Rik UTSW 5 76857157 missense unknown
R6914:C530008M17Rik UTSW 5 76857007 missense unknown
R7017:C530008M17Rik UTSW 5 76856948 small deletion probably benign
R7094:C530008M17Rik UTSW 5 76859032 missense unknown
R7367:C530008M17Rik UTSW 5 76856602 missense unknown
R7394:C530008M17Rik UTSW 5 76856954 small deletion probably benign
R7436:C530008M17Rik UTSW 5 76856954 small deletion probably benign
R7443:C530008M17Rik UTSW 5 76856638 missense unknown
R7500:C530008M17Rik UTSW 5 76658058 missense unknown
R7566:C530008M17Rik UTSW 5 76866275 intron probably null
R7633:C530008M17Rik UTSW 5 76857520 missense unknown
R7728:C530008M17Rik UTSW 5 76857469 missense unknown
Z1176:C530008M17Rik UTSW 5 76857246 missense unknown
Posted On2014-05-07