Incidental Mutation 'IGL01531:Impact'
ID89753
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Impact
Ensembl Gene ENSMUSG00000024423
Gene Nameimpact, RWD domain protein
SynonymsE430016J11Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.441) question?
Stock #IGL01531
Quality Score
Status
Chromosome18
Chromosomal Location12972252-12992948 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 12976019 bp
ZygosityHeterozygous
Amino Acid Change Serine to Phenylalanine at position 69 (S69F)
Ref Sequence ENSEMBL: ENSMUSP00000025290 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025290]
Predicted Effect probably benign
Transcript: ENSMUST00000025290
AA Change: S69F

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000025290
Gene: ENSMUSG00000024423
AA Change: S69F

DomainStartEndE-ValueType
RWD 14 116 7.86e-29 SMART
low complexity region 126 139 N/A INTRINSIC
low complexity region 160 171 N/A INTRINSIC
Pfam:UPF0029 180 288 8.5e-36 PFAM
low complexity region 306 315 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833420G17Rik T A 13: 119,466,958 probably null Het
Adcy1 T C 11: 7,169,414 V1019A possibly damaging Het
Blm A G 7: 80,474,071 Y1004H probably damaging Het
Btbd11 T C 10: 85,629,205 probably benign Het
Cachd1 A C 4: 100,953,034 I278L probably benign Het
Ddx18 T A 1: 121,564,586 T131S probably benign Het
Dgkd T C 1: 87,880,411 F67S probably damaging Het
Dlgap1 A G 17: 70,516,379 T120A probably damaging Het
Dnaja3 T G 16: 4,694,404 V224G probably damaging Het
Dntt A T 19: 41,053,238 R454* probably null Het
Dync2h1 T A 9: 7,071,111 T3083S probably benign Het
Eea1 C A 10: 96,031,677 T1045K probably damaging Het
Gpnmb T A 6: 49,047,458 probably benign Het
Hirip3 A G 7: 126,863,376 E108G possibly damaging Het
Il33 C A 19: 29,951,981 Q35K possibly damaging Het
Il6ra G A 3: 89,886,043 L267F probably damaging Het
Klk9 G A 7: 43,792,251 G39D probably damaging Het
Ldah A G 12: 8,227,337 D91G probably benign Het
Lrp4 T C 2: 91,511,553 L1837P probably damaging Het
Mov10l1 T A 15: 89,054,352 H1204Q probably damaging Het
Nlrp4c A G 7: 6,060,656 E21G probably damaging Het
Olfr361 T C 2: 37,085,395 M118V possibly damaging Het
Olfr629 T A 7: 103,741,114 N42I probably damaging Het
Osbpl1a T G 18: 12,933,581 K40N probably damaging Het
Ptprd T C 4: 76,085,520 T1010A probably damaging Het
Rp1 A G 1: 4,348,945 V648A probably benign Het
Scn9a T C 2: 66,537,378 K654E probably benign Het
Sema3d A G 5: 12,541,080 I309V probably benign Het
Slc6a2 T C 8: 92,995,682 L519P probably damaging Het
Stard9 A G 2: 120,673,604 I211V possibly damaging Het
Stau2 T C 1: 16,345,698 *480W probably null Het
Svopl T C 6: 38,026,941 probably benign Het
Virma A G 4: 11,528,753 E1330G probably damaging Het
Zan G A 5: 137,424,612 T2713I unknown Het
Other mutations in Impact
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01960:Impact APN 18 12974758 missense probably benign 0.13
R1056:Impact UTSW 18 12976524 missense probably benign 0.14
R1552:Impact UTSW 18 12984280 missense probably benign 0.25
R4111:Impact UTSW 18 12976033 critical splice donor site probably null
R4734:Impact UTSW 18 12985289 missense probably damaging 1.00
R4885:Impact UTSW 18 12986373 missense probably damaging 1.00
R5566:Impact UTSW 18 12974762 missense probably damaging 0.98
R5601:Impact UTSW 18 12976007 missense probably benign 0.44
R5966:Impact UTSW 18 12990544 missense probably benign 0.00
R6974:Impact UTSW 18 12982112 missense probably damaging 1.00
R7168:Impact UTSW 18 12986313 splice site probably null
R8108:Impact UTSW 18 12984331 missense probably benign 0.00
R8460:Impact UTSW 18 12976507 missense probably benign 0.00
R8474:Impact UTSW 18 12974741 missense probably damaging 1.00
Z1177:Impact UTSW 18 12988366 missense probably damaging 1.00
Posted On2013-12-03