Incidental Mutation 'IGL01621:5730559C18Rik'
ID92614
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 5730559C18Rik
Ensembl Gene ENSMUSG00000041605
Gene NameRIKEN cDNA 5730559C18 gene
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01621
Quality Score
Status
Chromosome1
Chromosomal Location136213531-136234264 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 136219775 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Serine at position 402 (A402S)
Ref Sequence ENSEMBL: ENSMUSP00000113785 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000120339] [ENSMUST00000144464] [ENSMUST00000150163]
Predicted Effect probably damaging
Transcript: ENSMUST00000120339
AA Change: A402S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000113785
Gene: ENSMUSG00000041605
AA Change: A402S

DomainStartEndE-ValueType
low complexity region 25 65 N/A INTRINSIC
Pfam:DUF3338 101 230 6.2e-57 PFAM
low complexity region 273 316 N/A INTRINSIC
low complexity region 353 362 N/A INTRINSIC
low complexity region 466 489 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000144464
SMART Domains Protein: ENSMUSP00000115554
Gene: ENSMUSG00000041605

DomainStartEndE-ValueType
Pfam:DUF3338 1 132 5.7e-58 PFAM
low complexity region 174 194 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000150163
SMART Domains Protein: ENSMUSP00000118074
Gene: ENSMUSG00000041605

DomainStartEndE-ValueType
Pfam:DUF3338 1 132 6.8e-58 PFAM
low complexity region 174 194 N/A INTRINSIC
low complexity region 197 213 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180496
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194374
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik C T 5: 63,898,383 T154I possibly damaging Het
4933434E20Rik T A 3: 90,064,502 M56K possibly damaging Het
A730017C20Rik A G 18: 59,062,386 M1V probably null Het
Abca6 A G 11: 110,184,708 L1319S probably damaging Het
Adh4 C T 3: 138,429,027 probably benign Het
Aloxe3 A G 11: 69,130,013 N188S probably benign Het
Ap1s1 G A 5: 137,041,804 R119* probably null Het
Apc2 T G 10: 80,306,201 L318R probably damaging Het
Atg101 A G 15: 101,287,095 S33G possibly damaging Het
Atp8a2 A T 14: 60,015,868 probably benign Het
Bpifb9b C A 2: 154,316,951 probably null Het
Braf A T 6: 39,646,853 probably benign Het
Cabp5 A G 7: 13,401,264 D43G probably damaging Het
Cfap46 T C 7: 139,606,607 N2462S unknown Het
Cit C T 5: 115,992,603 probably benign Het
Cpa4 T C 6: 30,574,416 V68A probably damaging Het
Cyp2j5 T C 4: 96,629,554 I474V probably benign Het
Dennd1a C A 2: 37,844,809 D49Y probably damaging Het
Dlg5 T C 14: 24,148,221 D1525G probably damaging Het
Dnajc18 C T 18: 35,680,840 R292H probably benign Het
Dync2h1 A G 9: 7,140,897 probably null Het
E2f6 A G 12: 16,825,368 D268G probably benign Het
Evi2b T A 11: 79,516,300 T150S probably damaging Het
F13b A G 1: 139,503,851 D53G probably benign Het
Fbxo38 G A 18: 62,522,524 probably benign Het
Flnb C T 14: 7,950,470 P2596L probably damaging Het
Fyco1 A G 9: 123,827,182 probably benign Het
Gm13023 T C 4: 143,793,932 F85L probably benign Het
Gm21759 A G 5: 8,179,775 probably benign Het
Gtse1 A G 15: 85,875,082 N597S probably benign Het
Hcn3 G T 3: 89,147,723 S739Y probably damaging Het
Ighv9-4 T A 12: 114,299,992 N107I probably damaging Het
Iqub T C 6: 24,446,212 K738E probably benign Het
Itga6 A T 2: 71,825,656 D308V probably benign Het
Klf12 T C 14: 100,023,149 Y48C probably damaging Het
Klhdc9 A G 1: 171,358,816 *351Q probably null Het
Krt40 A T 11: 99,542,868 N97K probably damaging Het
Lrit1 A C 14: 37,060,155 T262P probably damaging Het
Mcoln1 T C 8: 3,510,910 Y411H probably damaging Het
Mfsd4a A G 1: 132,054,143 S149P probably benign Het
Mipep A G 14: 60,796,165 probably benign Het
Mslnl A G 17: 25,743,667 probably benign Het
N4bp2 A T 5: 65,790,924 H299L probably damaging Het
Nbn C T 4: 15,965,221 P190S probably benign Het
Nos1 T A 5: 117,945,884 I1253N probably damaging Het
Nup210 G T 6: 91,030,117 F572L probably damaging Het
Olfr1381 T C 11: 49,552,137 L130P probably damaging Het
Olfr370 T C 8: 83,541,618 V158A probably benign Het
Olfr390 T C 11: 73,787,277 F113S probably damaging Het
P4htm T A 9: 108,583,736 E106V probably damaging Het
Pcdhb20 C T 18: 37,504,807 H129Y possibly damaging Het
Pdcd6ip T C 9: 113,685,422 E240G probably benign Het
Pex5l T C 3: 33,014,961 probably null Het
Plcd1 T C 9: 119,076,178 N181S probably damaging Het
Plekhg6 G T 6: 125,372,099 L412M probably damaging Het
Ppp1r13b T A 12: 111,835,092 Q386L possibly damaging Het
Prpf40b A G 15: 99,310,045 probably benign Het
Rdh11 C T 12: 79,186,413 probably null Het
Ripor3 A T 2: 167,997,252 S110T probably damaging Het
Sec24d G A 3: 123,294,158 probably null Het
Secisbp2l T C 2: 125,773,211 S165G probably benign Het
Shank1 C T 7: 44,342,465 A698V unknown Het
Shank1 T C 7: 44,351,599 M914T unknown Het
Slc22a3 T C 17: 12,458,492 Q263R probably benign Het
Smc1a C A X: 152,036,129 Q647K probably damaging Het
Sohlh1 A G 2: 25,846,861 probably benign Het
Tacc2 C A 7: 130,729,768 T484K probably damaging Het
Ubr4 G T 4: 139,440,783 E2825* probably null Het
Wbp2nl G A 15: 82,308,605 M163I probably benign Het
Zfp69 T A 4: 120,931,500 K206M probably damaging Het
Zswim3 G A 2: 164,821,520 R640H probably damaging Het
Other mutations in 5730559C18Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02466:5730559C18Rik APN 1 136216435 unclassified probably null
IGL03408:5730559C18Rik APN 1 136214405 missense probably benign
R0053:5730559C18Rik UTSW 1 136227550 missense probably benign 0.01
R0053:5730559C18Rik UTSW 1 136227550 missense probably benign 0.01
R0632:5730559C18Rik UTSW 1 136227618 missense probably benign 0.06
R1218:5730559C18Rik UTSW 1 136214402 missense probably damaging 1.00
R1611:5730559C18Rik UTSW 1 136216117 missense probably damaging 1.00
R3618:5730559C18Rik UTSW 1 136214372 missense probably benign 0.11
R4256:5730559C18Rik UTSW 1 136214350 missense probably benign 0.00
R4348:5730559C18Rik UTSW 1 136226208 missense probably damaging 1.00
R4350:5730559C18Rik UTSW 1 136226208 missense probably damaging 1.00
R4353:5730559C18Rik UTSW 1 136226208 missense probably damaging 1.00
R5343:5730559C18Rik UTSW 1 136225442 missense probably benign 0.01
R6296:5730559C18Rik UTSW 1 136221071 critical splice donor site probably null
R6597:5730559C18Rik UTSW 1 136226189 missense probably damaging 1.00
R6983:5730559C18Rik UTSW 1 136220156 missense possibly damaging 0.59
R7060:5730559C18Rik UTSW 1 136220197 missense possibly damaging 0.75
R7503:5730559C18Rik UTSW 1 136215937 missense possibly damaging 0.76
R7527:5730559C18Rik UTSW 1 136214384 missense possibly damaging 0.67
R7602:5730559C18Rik UTSW 1 136225397 nonsense probably null
R7675:5730559C18Rik UTSW 1 136216003 missense probably benign 0.04
X0017:5730559C18Rik UTSW 1 136220182 missense probably damaging 1.00
Posted On2013-12-09