Incidental Mutation 'IGL02121:4930579F01Rik'
ID280630
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 4930579F01Rik
Ensembl Gene ENSMUSG00000012042
Gene NameRIKEN cDNA 4930579F01 gene
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.069) question?
Stock #IGL02121
Quality Score
Status
Chromosome3
Chromosomal Location138164078-138193825 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 138164373 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Serine at position 199 (Y199S)
Ref Sequence ENSEMBL: ENSMUSP00000142940 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000012186] [ENSMUST00000040321] [ENSMUST00000162864] [ENSMUST00000199293]
Predicted Effect possibly damaging
Transcript: ENSMUST00000012186
AA Change: Y324S

PolyPhen 2 Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000012186
Gene: ENSMUSG00000012042
AA Change: Y324S

DomainStartEndE-ValueType
Pfam:SPATIAL 17 201 1.9e-36 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000040321
SMART Domains Protein: ENSMUSP00000042082
Gene: ENSMUSG00000004127

DomainStartEndE-ValueType
low complexity region 44 82 N/A INTRINSIC
Pfam:tRNA_m1G_MT 111 277 3.7e-52 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000162864
SMART Domains Protein: ENSMUSP00000125749
Gene: ENSMUSG00000004127

DomainStartEndE-ValueType
low complexity region 44 82 N/A INTRINSIC
Pfam:tRNA_m1G_MT 111 277 2.7e-33 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000199293
AA Change: Y199S

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000142940
Gene: ENSMUSG00000012042
AA Change: Y199S

DomainStartEndE-ValueType
Pfam:SPATIAL 1 76 9.6e-27 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700029F12Rik A T 13: 97,022,530 V122D unknown Het
Abca6 T A 11: 110,182,924 I1434F probably benign Het
Acsm1 T C 7: 119,658,412 V467A possibly damaging Het
Alg3 T C 16: 20,606,535 T260A possibly damaging Het
Aoc1 A G 6: 48,906,320 probably null Het
Ap5b1 C T 19: 5,570,787 T745I possibly damaging Het
Atp6v1c2 T G 12: 17,291,440 K272Q possibly damaging Het
Brd8 C T 18: 34,602,727 S899N probably damaging Het
Clcn7 C T 17: 25,153,084 A426V possibly damaging Het
Clec14a T C 12: 58,268,437 E133G probably damaging Het
Col4a3bp T G 13: 96,599,474 Y181D probably benign Het
Diexf A T 1: 193,118,278 D411E probably benign Het
Dst T A 1: 34,228,657 V2720E probably damaging Het
Efr3a C T 15: 65,871,150 probably benign Het
Fam83g T C 11: 61,684,783 S84P probably benign Het
Gm10436 T C 12: 88,178,472 D28G possibly damaging Het
Gm7251 T C 13: 49,805,906 noncoding transcript Het
Gnptab T G 10: 88,429,461 S312A possibly damaging Het
Grap2 C A 15: 80,647,875 S230R possibly damaging Het
Grm6 T A 11: 50,859,656 C549S probably damaging Het
Gtf3c1 A T 7: 125,646,731 L1504* probably null Het
Iars A G 13: 49,724,696 M899V probably benign Het
Il1rl1 T A 1: 40,442,303 probably benign Het
Kcna4 T C 2: 107,296,618 Y566H possibly damaging Het
Kcnn2 T C 18: 45,561,273 I175T probably damaging Het
Kcnt1 C T 2: 25,901,865 T609I probably damaging Het
Kif3b A G 2: 153,317,274 R332G probably damaging Het
Mansc1 T C 6: 134,621,837 D39G probably damaging Het
Med12 T C X: 101,288,342 probably benign Het
Mmp1b G T 9: 7,384,935 T238K probably benign Het
Nav3 A G 10: 109,759,036 S1435P probably damaging Het
Npc1l1 A G 11: 6,228,157 S418P probably benign Het
Olfr125 T C 17: 37,835,941 V314A probably benign Het
Olfr324 T C 11: 58,597,582 V62A possibly damaging Het
Olfr401 A G 11: 74,121,287 probably benign Het
Olfr522 G T 7: 140,162,694 D85E probably benign Het
Olfr628 A G 7: 103,732,469 Y181C probably damaging Het
Olfr648 A C 7: 104,180,225 M61R probably damaging Het
Olfr918 T C 9: 38,673,415 T23A probably damaging Het
Otoa A G 7: 121,122,024 T421A probably benign Het
Otulin G A 15: 27,608,737 A42V probably damaging Het
Pcdhb1 T A 18: 37,265,785 V263E probably benign Het
Pfkfb4 C T 9: 109,025,110 R351W probably damaging Het
Phip A T 9: 82,893,370 V1053D probably damaging Het
Pkd1 G A 17: 24,575,927 R2196H probably benign Het
Plin4 T A 17: 56,102,131 Q1363L probably damaging Het
Pp2d1 C A 17: 53,507,921 V592L probably damaging Het
Prkdc T G 16: 15,717,184 M1649R probably benign Het
Ptk2b T C 14: 66,213,482 K12E probably benign Het
Rars2 G A 4: 34,657,219 V522I probably damaging Het
Rpgrip1 T A 14: 52,147,374 N646K possibly damaging Het
Sars2 A G 7: 28,752,525 probably benign Het
Sgo2b T C 8: 63,931,282 T227A possibly damaging Het
Smc1b T C 15: 85,097,985 T703A probably benign Het
Stk32a G T 18: 43,313,507 D341Y probably benign Het
Thap11 T C 8: 105,855,914 V185A possibly damaging Het
Ttll10 C A 4: 156,048,433 V65F probably benign Het
Ube2q1 T A 3: 89,780,462 N111K possibly damaging Het
Upf2 C A 2: 6,026,323 probably benign Het
Vasp T A 7: 19,257,712 probably benign Het
Vmn2r104 C T 17: 20,041,794 W358* probably null Het
Vmn2r9 G A 5: 108,843,636 L620F probably damaging Het
Wdfy3 C T 5: 101,898,510 G1826R possibly damaging Het
Wdr7 T A 18: 63,777,545 Y669* probably null Het
Wdr72 T A 9: 74,281,729 probably benign Het
Other mutations in 4930579F01Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00335:4930579F01Rik APN 3 138186198 intron probably benign
IGL02424:4930579F01Rik APN 3 138174705 splice site probably benign
R0008:4930579F01Rik UTSW 3 138176585 missense possibly damaging 0.67
R0008:4930579F01Rik UTSW 3 138176585 missense possibly damaging 0.67
R0373:4930579F01Rik UTSW 3 138173582 missense probably damaging 0.96
R1082:4930579F01Rik UTSW 3 138173571 missense possibly damaging 0.95
R1163:4930579F01Rik UTSW 3 138176510 missense probably damaging 1.00
R1538:4930579F01Rik UTSW 3 138183756 missense probably damaging 1.00
R2151:4930579F01Rik UTSW 3 138176456 critical splice donor site probably null
R2364:4930579F01Rik UTSW 3 138165823 missense probably benign 0.00
R3978:4930579F01Rik UTSW 3 138183674 missense probably benign 0.01
R4108:4930579F01Rik UTSW 3 138183670 missense probably benign 0.14
R5812:4930579F01Rik UTSW 3 138176538 missense probably damaging 1.00
R5960:4930579F01Rik UTSW 3 138183767 missense possibly damaging 0.58
R6329:4930579F01Rik UTSW 3 138173696 missense probably damaging 1.00
R6599:4930579F01Rik UTSW 3 138176489 missense probably benign 0.00
R6862:4930579F01Rik UTSW 3 138186188 intron probably benign
R6897:4930579F01Rik UTSW 3 138183773 missense possibly damaging 0.85
Posted On2015-04-16