Incidental Mutation 'IGL02381:9030624J02Rik'
ID 291380
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 # IGL02381
Quality Score
Status
Chromosome 7
Chromosomal Location 118740226-118842966 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 118775375 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 342 (Y342C)
Ref Sequence ENSEMBL: ENSMUSP00000102163 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033280] [ENSMUST00000059390] [ENSMUST00000106552] [ENSMUST00000106553]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000033280
AA Change: Y103C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000059390
AA Change: Y366C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000051263
Gene: ENSMUSG00000030982
AA Change: Y366C

DomainStartEndE-ValueType
low complexity region 71 100 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000106552
AA Change: Y342C

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000102162
Gene: ENSMUSG00000030982
AA Change: Y342C

DomainStartEndE-ValueType
low complexity region 47 76 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000106553
AA Change: Y342C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102163
Gene: ENSMUSG00000030982
AA Change: Y342C

DomainStartEndE-ValueType
low complexity region 47 76 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129334
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810041L15Rik A G 15: 84,406,453 S218P probably damaging Het
Abcb5 T A 12: 118,940,678 I126F probably damaging Het
Antxrl T G 14: 34,056,611 probably null Het
Arsa A T 15: 89,475,537 Y62* probably null Het
Atg2b C A 12: 105,648,348 C1108F probably damaging Het
Atp8a1 T C 5: 67,705,995 Q651R probably benign Het
Atxn7l2 A G 3: 108,204,495 probably benign Het
Cacna1f A G X: 7,616,068 D597G probably damaging Het
Capn12 T C 7: 28,886,455 probably benign Het
Ctnna2 A T 6: 76,954,783 D624E probably benign Het
Dnah2 T C 11: 69,446,292 E3274G probably benign Het
Dnah7b A T 1: 46,277,120 N3131I probably damaging Het
Fam3a C T X: 74,387,084 G112E probably damaging Het
Focad T G 4: 88,274,090 probably benign Het
Fyb2 G A 4: 104,948,666 probably benign Het
Htt C T 5: 34,829,760 P1108S probably benign Het
Ift80 A T 3: 68,962,320 probably null Het
Insc T C 7: 114,849,942 *533Q probably null Het
Itga2 A G 13: 114,856,722 C786R probably damaging Het
Lman2 A G 13: 55,351,469 W198R possibly damaging Het
Med23 A G 10: 24,900,728 T713A possibly damaging Het
Mtus1 A T 8: 41,083,119 M520K probably benign Het
Mvd C A 8: 122,437,155 G252V probably benign Het
Ncoa3 T A 2: 166,052,817 V340E probably damaging Het
Necab1 A G 4: 15,148,812 probably null Het
Noxred1 T C 12: 87,225,002 D131G probably damaging Het
P2ry4 C A X: 100,594,201 K30N probably damaging Het
Pcdhac2 T A 18: 37,144,267 V100D possibly damaging Het
Piezo1 C A 8: 122,498,544 R571L probably benign Het
Pkd1l2 C T 8: 117,035,800 probably benign Het
Plekhm2 T C 4: 141,642,723 T32A possibly damaging Het
Rev3l T C 10: 39,821,346 V613A possibly damaging Het
Rp1 A G 1: 4,352,390 S156P probably benign Het
Sema3f A T 9: 107,692,395 D48E probably damaging Het
Slc29a4 T C 5: 142,720,099 V446A probably benign Het
Sppl3 C T 5: 115,074,910 probably null Het
Ttn T C 2: 76,769,638 E19064G probably damaging 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
IGL02566:9030624J02Rik APN 7 118752832 missense probably benign 0.04
IGL03199:9030624J02Rik APN 7 118766388 missense probably benign 0.18
IGL03224:9030624J02Rik APN 7 118792553 unclassified probably benign
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 2015-04-16