Incidental Mutation 'IGL03001:A830010M20Rik'
ID 407321
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol A830010M20Rik
Ensembl Gene ENSMUSG00000111375
Gene Name RIKEN cDNA A830010M20 gene
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.121) question?
Stock # IGL03001
Quality Score
Status
Chromosome 5
Chromosomal Location 107437997-107511207 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 107497842 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 9 (I9T)
Ref Sequence ENSEMBL: ENSMUSP00000114881 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060553] [ENSMUST00000100951] [ENSMUST00000112671] [ENSMUST00000152474] [ENSMUST00000211896]
AlphaFold D3YUB6
Q80TK0
Predicted Effect probably damaging
Transcript: ENSMUST00000060553
AA Change: I9T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect possibly damaging
Transcript: ENSMUST00000100951
AA Change: I9T

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000098511
Gene: ENSMUSG00000111375
AA Change: I9T

DomainStartEndE-ValueType
low complexity region 340 353 N/A INTRINSIC
low complexity region 698 709 N/A INTRINSIC
low complexity region 946 957 N/A INTRINSIC
Pfam:DUF4596 1195 1239 2.6e-24 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000112671
AA Change: I9T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108290
Gene: ENSMUSG00000111375
AA Change: I9T

DomainStartEndE-ValueType
low complexity region 340 353 N/A INTRINSIC
low complexity region 698 709 N/A INTRINSIC
low complexity region 946 957 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000152474
AA Change: I9T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000114881
Gene: ENSMUSG00000111375
AA Change: I9T

DomainStartEndE-ValueType
low complexity region 339 352 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000211896
AA Change: I521T

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acan A C 7: 79,111,294 D1918A probably damaging Het
Ahcy C A 2: 155,064,828 D182Y probably damaging Het
Aldob T G 4: 49,542,844 D110A probably damaging Het
Alkbh8 A T 9: 3,344,602 M53L probably benign Het
Aqr T C 2: 114,146,919 D363G probably benign Het
Asxl3 A G 18: 22,517,398 R815G probably damaging Het
Atf4 T A 15: 80,256,657 W83R probably damaging Het
Baz1a A T 12: 54,923,111 M587K possibly damaging Het
Cactin T A 10: 81,325,734 I700N probably damaging Het
Catsperg2 T C 7: 29,725,079 S95G probably benign Het
Cbwd1 T C 19: 24,922,638 K301E probably benign Het
Cd1d1 C T 3: 86,998,161 S175N probably benign Het
Chd4 C A 6: 125,101,566 A217E possibly damaging Het
Cnbd2 T C 2: 156,333,634 probably null Het
Cntnap5c G A 17: 58,055,639 C329Y probably damaging Het
Col12a1 C T 9: 79,633,673 G2391R probably damaging Het
Col5a3 T A 9: 20,807,744 D238V unknown Het
Cuedc1 T C 11: 88,182,489 V160A probably benign Het
Depdc5 T C 5: 32,945,090 V342A possibly damaging Het
Dnah6 T C 6: 73,149,140 D1338G probably benign Het
Dpyd T C 3: 118,917,242 V433A probably benign Het
Epb41l5 T C 1: 119,617,644 H179R probably damaging Het
Fbf1 T C 11: 116,165,886 probably benign Het
Flnb T C 14: 7,934,680 S2251P probably damaging Het
Fsip2 A T 2: 82,990,624 probably benign Het
Grin2b C T 6: 135,739,115 V735M probably damaging Het
Itpr3 T G 17: 27,089,612 probably benign Het
Lingo4 C T 3: 94,402,396 R214C probably damaging Het
Lrp1b C T 2: 40,927,889 R2329H probably damaging Het
Lrrc47 T C 4: 154,015,993 L342P probably damaging Het
Mmp15 T C 8: 95,368,217 S240P probably damaging Het
Ndufaf4 T A 4: 24,901,747 N95K probably benign Het
Nms C T 1: 38,941,912 P60S probably benign Het
Npas3 A T 12: 53,501,192 Y77F probably damaging Het
Olfr1158 T A 2: 87,990,149 Y13N probably benign Het
Olfr1173 T A 2: 88,274,845 D68V probably damaging Het
Olfr1412 T A 1: 92,588,551 S74T probably damaging Het
Olfr320 T G 11: 58,683,876 M1R probably null Het
Olfr561 G T 7: 102,775,253 C243F probably damaging Het
Olfr926 A G 9: 38,878,078 M301V probably benign Het
Picalm T C 7: 90,182,246 V429A probably benign Het
Pkhd1l1 T A 15: 44,558,004 I3056N probably damaging Het
Pomt1 G T 2: 32,244,326 M286I probably benign Het
Popdc2 A T 16: 38,369,519 Y176F probably benign Het
Psg21 A T 7: 18,652,485 M192K probably benign Het
Psma1 C A 7: 114,266,439 A219S probably benign Het
Rad21l T G 2: 151,668,469 H22P probably damaging Het
Rnf213 A G 11: 119,479,941 T4791A probably damaging Het
Sdk2 A G 11: 113,821,626 V1609A probably benign Het
Sema3e T A 5: 14,241,043 S606T probably benign Het
Slc16a4 A T 3: 107,311,542 R486S possibly damaging Het
Slc17a3 T C 13: 23,856,784 L331P probably damaging Het
Slc38a11 A T 2: 65,353,815 V164D probably damaging Het
Slc38a6 A G 12: 73,337,053 I173V probably benign Het
Synpo2 T C 3: 123,079,955 T1121A probably benign Het
Tfcp2 T C 15: 100,528,421 D83G possibly damaging Het
Thnsl1 A G 2: 21,211,644 T70A probably damaging Het
Tnfrsf21 A G 17: 43,087,895 I631V probably damaging Het
Tor2a C A 2: 32,757,317 H6Q possibly damaging Het
Ttn T C 2: 76,734,923 N19993S probably benign Het
Vps53 T C 11: 76,138,324 E119G probably damaging Het
Zkscan6 T C 11: 65,814,669 W69R probably damaging Het
Zswim8 T C 14: 20,714,391 S610P probably damaging Het
Other mutations in A830010M20Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01911:A830010M20Rik APN 5 107508580 missense probably damaging 1.00
IGL02638:A830010M20Rik APN 5 107508556 missense possibly damaging 0.87
IGL03007:A830010M20Rik APN 5 107503676 missense probably benign 0.37
IGL03008:A830010M20Rik APN 5 107491598 splice site probably null
IGL03281:A830010M20Rik APN 5 107503876 missense probably benign 0.02
R0206:A830010M20Rik UTSW 5 107505040 missense probably benign 0.00
R0426:A830010M20Rik UTSW 5 107510373 missense probably damaging 1.00
R0765:A830010M20Rik UTSW 5 107506934 missense probably benign 0.14
R1747:A830010M20Rik UTSW 5 107451999 missense probably damaging 1.00
R2013:A830010M20Rik UTSW 5 107510789 missense probably damaging 0.99
R2338:A830010M20Rik UTSW 5 107510574 missense probably damaging 0.99
R3963:A830010M20Rik UTSW 5 107507356 missense probably damaging 0.99
R4460:A830010M20Rik UTSW 5 107503765 missense possibly damaging 0.74
R4776:A830010M20Rik UTSW 5 107510451 missense probably damaging 0.99
R4909:A830010M20Rik UTSW 5 107507310 nonsense probably null
R5105:A830010M20Rik UTSW 5 107510471 missense possibly damaging 0.70
R5155:A830010M20Rik UTSW 5 107490703 missense probably damaging 0.96
R6089:A830010M20Rik UTSW 5 107507029 missense probably damaging 0.99
R7282:A830010M20Rik UTSW 5 107507196 missense probably benign
R7282:A830010M20Rik UTSW 5 107510505 missense probably damaging 0.99
R7492:A830010M20Rik UTSW 5 107510507 missense probably benign 0.01
R8087:A830010M20Rik UTSW 5 107485087 missense probably damaging 1.00
R8694:A830010M20Rik UTSW 5 107510769 missense probably benign 0.02
R8777:A830010M20Rik UTSW 5 107510427 missense probably damaging 0.99
R8777-TAIL:A830010M20Rik UTSW 5 107510427 missense probably damaging 0.99
R8788:A830010M20Rik UTSW 5 107470987 makesense probably null
R9240:A830010M20Rik UTSW 5 107452168 missense probably benign 0.17
R9584:A830010M20Rik UTSW 5 107510481 missense probably benign 0.40
Posted On 2016-08-02