Incidental Mutation 'IGL03224:9030624J02Rik'
ID 413749
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 9030624J02Rik
Ensembl Gene ENSMUSG00000030982
Gene Name RIKEN cDNA 9030624J02 gene
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.125) question?
Stock # IGL03224
Quality Score
Status
Chromosome 7
Chromosomal Location 118740226-118842966 bp(+) (GRCm38)
Type of Mutation unclassified
DNA Base Change (assembly) A to G at 118792553 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000033280] [ENSMUST00000059390] [ENSMUST00000106552] [ENSMUST00000106553]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000033280
Predicted Effect probably benign
Transcript: ENSMUST00000059390
SMART Domains Protein: ENSMUSP00000051263
Gene: ENSMUSG00000030982

DomainStartEndE-ValueType
low complexity region 71 100 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000106552
SMART Domains Protein: ENSMUSP00000102162
Gene: ENSMUSG00000030982

DomainStartEndE-ValueType
low complexity region 47 76 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000106553
SMART Domains Protein: ENSMUSP00000102163
Gene: ENSMUSG00000030982

DomainStartEndE-ValueType
low complexity region 47 76 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000149749
SMART Domains Protein: ENSMUSP00000121323
Gene: ENSMUSG00000030982

DomainStartEndE-ValueType
Pfam:Vps35 2 198 7.3e-10 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ash1l T C 3: 89,035,268 probably benign Het
Capn10 T G 1: 92,939,324 V92G probably damaging Het
Cntn2 A G 1: 132,523,042 C532R probably damaging Het
Csf1r T C 18: 61,112,062 F233L probably damaging Het
Cts6 T C 13: 61,201,733 D82G probably damaging Het
Cym T C 3: 107,218,732 S72G possibly damaging Het
Cyp4a29 T A 4: 115,247,050 M105K probably damaging Het
Dhx35 T C 2: 158,857,132 probably benign Het
Dnah5 C A 15: 28,459,154 D4506E probably damaging Het
Dok5 T C 2: 170,832,887 F139L possibly damaging Het
Dync2h1 T C 9: 7,076,235 D2974G probably benign Het
Frem3 C T 8: 80,613,463 T795I probably damaging Het
Ints6l A G X: 56,497,927 T525A probably damaging Het
Lrp1b T C 2: 41,471,031 T587A possibly damaging Het
Meikin A G 11: 54,398,460 M220V probably benign Het
Mmp12 T A 9: 7,350,002 probably benign Het
Mpp7 T C 18: 7,403,269 D347G probably benign Het
Myo3b A G 2: 70,349,939 Y1190C probably benign Het
Myo5c A G 9: 75,278,243 K963E probably benign Het
Nipbl T C 15: 8,293,085 D2614G probably damaging Het
Ppp1r3f A G X: 7,560,582 V480A probably benign Het
Prkcb A T 7: 122,516,924 K209* probably null Het
Rasgef1a A G 6: 118,089,806 probably benign Het
Ryr3 A T 2: 112,954,336 C233* probably null Het
Scn8a A G 15: 101,035,639 R1534G probably damaging Het
Slitrk3 A T 3: 73,049,930 L503H possibly damaging Het
Spag17 A G 3: 100,010,840 K380E possibly damaging Het
Spata31d1a A G 13: 59,701,026 V1096A possibly damaging Het
Synrg C T 11: 84,039,666 T1278M possibly damaging Het
Teddm1a G T 1: 153,892,017 V76F possibly damaging Het
Troap A G 15: 99,081,877 T365A probably benign Het
Other mutations in 9030624J02Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00159:9030624J02Rik APN 7 118797047 critical splice donor site probably null
IGL00229:9030624J02Rik APN 7 118804191 splice site probably benign
IGL01066:9030624J02Rik APN 7 118773011 splice site probably null
IGL01433:9030624J02Rik APN 7 118774051 splice site probably null
IGL02381:9030624J02Rik APN 7 118775375 missense probably damaging 1.00
IGL02566:9030624J02Rik APN 7 118752832 missense probably benign 0.04
IGL03199:9030624J02Rik APN 7 118766388 missense probably benign 0.18
R0535:9030624J02Rik UTSW 7 118748181 missense possibly damaging 0.95
R1109:9030624J02Rik UTSW 7 118775329 missense probably damaging 0.97
R1378:9030624J02Rik UTSW 7 118794572 nonsense probably null
R1378:9030624J02Rik UTSW 7 118794573 missense probably damaging 1.00
R1412:9030624J02Rik UTSW 7 118809971 missense probably damaging 0.99
R1474:9030624J02Rik UTSW 7 118760213 missense probably damaging 1.00
R1586:9030624J02Rik UTSW 7 118809972 missense probably damaging 1.00
R1785:9030624J02Rik UTSW 7 118794575 missense probably damaging 1.00
R1786:9030624J02Rik UTSW 7 118794575 missense probably damaging 1.00
R1921:9030624J02Rik UTSW 7 118833748 missense probably damaging 0.98
R1971:9030624J02Rik UTSW 7 118775334 missense probably damaging 1.00
R2038:9030624J02Rik UTSW 7 118811874 missense probably damaging 0.98
R2107:9030624J02Rik UTSW 7 118794539 unclassified probably benign
R2130:9030624J02Rik UTSW 7 118794575 missense probably damaging 1.00
R2131:9030624J02Rik UTSW 7 118794575 missense probably damaging 1.00
R2132:9030624J02Rik UTSW 7 118794575 missense probably damaging 1.00
R2133:9030624J02Rik UTSW 7 118794575 missense probably damaging 1.00
R2405:9030624J02Rik UTSW 7 118792595 missense probably damaging 1.00
R2411:9030624J02Rik UTSW 7 118792595 missense probably damaging 1.00
R3910:9030624J02Rik UTSW 7 118746390 missense possibly damaging 0.86
R3911:9030624J02Rik UTSW 7 118746390 missense possibly damaging 0.86
R3912:9030624J02Rik UTSW 7 118746390 missense possibly damaging 0.86
R3971:9030624J02Rik UTSW 7 118833799 missense probably damaging 0.98
R4697:9030624J02Rik UTSW 7 118791448 missense probably damaging 1.00
R4964:9030624J02Rik UTSW 7 118780268 missense possibly damaging 0.84
R4980:9030624J02Rik UTSW 7 118807009 missense probably damaging 1.00
R5034:9030624J02Rik UTSW 7 118791388 missense probably damaging 0.99
R5309:9030624J02Rik UTSW 7 118813576 missense probably damaging 1.00
R5312:9030624J02Rik UTSW 7 118813576 missense probably damaging 1.00
R5743:9030624J02Rik UTSW 7 118797011 missense possibly damaging 0.89
R6017:9030624J02Rik UTSW 7 118809921 missense probably damaging 1.00
R6089:9030624J02Rik UTSW 7 118746435 missense possibly damaging 0.76
R6320:9030624J02Rik UTSW 7 118753849 missense probably benign 0.08
R6415:9030624J02Rik UTSW 7 118792646 missense probably damaging 1.00
R6861:9030624J02Rik UTSW 7 118743675 missense probably damaging 1.00
R7034:9030624J02Rik UTSW 7 118773092 missense probably damaging 1.00
R7036:9030624J02Rik UTSW 7 118773092 missense probably damaging 1.00
R7339:9030624J02Rik UTSW 7 118809971 missense probably damaging 0.99
R7456:9030624J02Rik UTSW 7 118804117 missense probably benign 0.01
R7493:9030624J02Rik UTSW 7 118794577 splice site probably null
R8064:9030624J02Rik UTSW 7 118753924 missense probably damaging 1.00
R8103:9030624J02Rik UTSW 7 118743632 missense probably benign 0.19
R8279:9030624J02Rik UTSW 7 118746499 missense probably benign
R8354:9030624J02Rik UTSW 7 118792572 missense probably benign 0.07
R8454:9030624J02Rik UTSW 7 118792572 missense probably benign 0.07
R8954:9030624J02Rik UTSW 7 118794578 missense possibly damaging 0.94
R9450:9030624J02Rik UTSW 7 118752895 critical splice donor site probably null
R9642:9030624J02Rik UTSW 7 118838228 missense probably benign 0.00
R9667:9030624J02Rik UTSW 7 118749692 critical splice donor site probably null
R9749:9030624J02Rik UTSW 7 118752884 missense probably benign 0.03
X0028:9030624J02Rik UTSW 7 118800452 missense possibly damaging 0.93
Posted On 2016-08-02