Incidental Mutation 'IGL01998:4930435E12Rik'
ID 182953
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 4930435E12Rik
Ensembl Gene ENSMUSG00000022798
Gene Name RIKEN cDNA 4930435E12 gene
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.076) question?
Stock # IGL01998
Quality Score
Status
Chromosome 16
Chromosomal Location 38812206-38828749 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 38828224 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 174 (D174E)
Ref Sequence ENSEMBL: ENSMUSP00000113120 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000122078]
AlphaFold A6X8Z9
Predicted Effect probably benign
Transcript: ENSMUST00000122078
AA Change: D174E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000113120
Gene: ENSMUSG00000022798
AA Change: D174E

DomainStartEndE-ValueType
low complexity region 86 97 N/A INTRINSIC
low complexity region 244 254 N/A INTRINSIC
low complexity region 307 317 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130241
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148657
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209595
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110043O21Rik A T 4: 35,194,179 D205E probably benign Het
4932438A13Rik T C 3: 36,957,016 S1788P possibly damaging Het
Arpc3 T C 5: 122,403,407 C78R probably damaging Het
Atp6v0b A G 4: 117,886,066 probably null Het
B3gnt8 A G 7: 25,628,778 Y211C probably damaging Het
Birc6 T C 17: 74,579,885 I736T probably benign Het
Bpifb9a T C 2: 154,268,200 probably null Het
C3ar1 A T 6: 122,850,940 M106K probably damaging Het
Cab39l T A 14: 59,496,895 L21Q probably damaging Het
Casp1 A T 9: 5,303,043 I166F probably damaging Het
Cd180 A G 13: 102,705,214 E256G probably damaging Het
Clca4a T C 3: 144,958,126 T519A probably damaging Het
Clstn3 A T 6: 124,458,663 L233Q probably damaging Het
Crlf3 G A 11: 80,058,019 probably benign Het
Depdc5 T C 5: 32,945,151 probably benign Het
Drc7 T A 8: 95,059,193 C226S probably damaging Het
Epha5 T A 5: 84,084,734 D807V probably damaging Het
Fat2 A G 11: 55,296,195 L1275P probably benign Het
Fv1 T C 4: 147,869,327 C117R possibly damaging Het
Ighg2b C A 12: 113,307,089 M140I unknown Het
Klra5 A T 6: 129,906,713 Y60* probably null Het
Lmtk2 C T 5: 144,176,065 T1201I probably damaging Het
Ncapd2 A T 6: 125,169,933 L1230H probably damaging Het
Ncapd2 A T 6: 125,173,115 S917T probably benign Het
Nfx1 T A 4: 41,004,353 I708N probably damaging Het
Notch2 A T 3: 98,143,106 D1899V probably damaging Het
Npepl1 T A 2: 174,116,200 probably benign Het
Nps T A 7: 135,268,752 probably benign Het
Nrg1 T C 8: 31,918,134 S24G probably damaging Het
Olfr330 A T 11: 58,529,577 Y136* probably null Het
Olfr352 A G 2: 36,869,646 N27D probably benign Het
Olfr698 G A 7: 106,752,551 T279M possibly damaging Het
Olfr730 C A 14: 50,186,648 V190L probably benign Het
Pigx G T 16: 32,084,610 T211K probably benign Het
Pink1 A G 4: 138,320,742 I223T probably damaging Het
Plat G A 8: 22,767,147 A15T probably benign Het
Ptges2 G A 2: 32,401,530 A310T possibly damaging Het
Rsl1d1 A G 16: 11,194,645 S306P possibly damaging Het
Rxfp1 T C 3: 79,660,096 K316E probably benign Het
Scn10a A G 9: 119,609,676 I1708T probably damaging Het
Sdk2 A T 11: 113,838,532 F1073Y probably damaging Het
Sp100 A G 1: 85,666,929 D170G probably benign Het
Spock1 A T 13: 57,436,181 probably benign Het
Strbp A G 2: 37,625,285 L243P probably damaging Het
Tgm5 T A 2: 121,052,439 T446S probably damaging Het
Tmem59l C T 8: 70,484,781 V239I probably benign Het
Trav8-1 A T 14: 53,470,205 T101S probably benign Het
Triml1 T C 8: 43,141,313 D27G probably damaging Het
Vmn2r54 T C 7: 12,615,300 E785G probably benign Het
Vps13c A G 9: 67,955,068 probably null Het
Wwp2 C T 8: 107,549,521 R64C probably damaging Het
Zfp608 T C 18: 54,891,818 H1460R probably damaging Het
Other mutations in 4930435E12Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01979:4930435E12Rik APN 16 38827893 missense possibly damaging 0.61
IGL02454:4930435E12Rik APN 16 38827947 missense probably benign 0.02
IGL03216:4930435E12Rik APN 16 38828690 missense possibly damaging 0.59
IGL03325:4930435E12Rik APN 16 38827993 missense probably damaging 1.00
IGL03397:4930435E12Rik APN 16 38828693 missense probably damaging 1.00
R7924_4930435E12Rik_239 UTSW 16 38812464 nonsense probably null
BB001:4930435E12Rik UTSW 16 38812464 nonsense probably null
BB011:4930435E12Rik UTSW 16 38812464 nonsense probably null
R0242:4930435E12Rik UTSW 16 38824567 splice site probably benign
R0446:4930435E12Rik UTSW 16 38828702 missense probably benign 0.01
R0607:4930435E12Rik UTSW 16 38828364 missense probably benign 0.02
R1918:4930435E12Rik UTSW 16 38828088 missense possibly damaging 0.56
R1953:4930435E12Rik UTSW 16 38827913 missense possibly damaging 0.78
R3417:4930435E12Rik UTSW 16 38828740 missense probably benign 0.17
R4601:4930435E12Rik UTSW 16 38828018 missense probably benign 0.14
R4860:4930435E12Rik UTSW 16 38828145 missense probably damaging 0.97
R4860:4930435E12Rik UTSW 16 38828145 missense probably damaging 0.97
R5551:4930435E12Rik UTSW 16 38827974 missense probably benign 0.28
R7568:4930435E12Rik UTSW 16 38828447 missense possibly damaging 0.95
R7623:4930435E12Rik UTSW 16 38828091 missense possibly damaging 0.87
R7643:4930435E12Rik UTSW 16 38827863 missense probably benign 0.15
R7669:4930435E12Rik UTSW 16 38828091 missense possibly damaging 0.87
R7670:4930435E12Rik UTSW 16 38828091 missense possibly damaging 0.87
R7671:4930435E12Rik UTSW 16 38828091 missense possibly damaging 0.87
R7924:4930435E12Rik UTSW 16 38812464 nonsense probably null
R9385:4930435E12Rik UTSW 16 38828045 missense probably benign 0.11
RF013:4930435E12Rik UTSW 16 38828001 missense probably benign 0.37
Posted On 2014-05-07