Incidental Mutation 'IGL02647:AF366264'
ID 301974
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol AF366264
Ensembl Gene ENSMUSG00000057116
Gene Name cDNA sequence AF366264
Synonyms
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.684) question?
Stock # IGL02647
Quality Score
Status
Chromosome 8
Chromosomal Location 13835233-13838389 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 13836979 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 371 (T371A)
Ref Sequence ENSEMBL: ENSMUSP00000096518 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071308]
AlphaFold G3X9P9
Predicted Effect probably damaging
Transcript: ENSMUST00000071308
AA Change: T371A

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000096518
Gene: ENSMUSG00000057116
AA Change: T371A

DomainStartEndE-ValueType
Pfam:Peptidase_C48 322 501 1.9e-45 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr8 A T 14: 29,990,890 R497W probably damaging Het
Als2cr12 T C 1: 58,670,454 T181A probably benign Het
Atp2a3 C A 11: 72,975,339 H262N probably benign Het
Bmx T C X: 164,205,235 E495G probably damaging Het
Cbx5 T C 15: 103,200,903 probably null Het
Cenpj C T 14: 56,530,079 V1203M probably damaging Het
Ces1b T C 8: 93,057,044 H516R probably benign Het
D430041D05Rik T C 2: 104,248,266 N1235S probably damaging Het
Depdc1a A T 3: 159,522,866 K418N probably damaging Het
Dysf G A 6: 84,137,373 V1215M probably damaging Het
Foxf2 A T 13: 31,627,235 N386Y probably damaging Het
Frem1 A T 4: 83,001,754 V455E probably damaging Het
Fzd7 C A 1: 59,484,395 P479Q probably damaging Het
Hnmt G A 2: 24,014,307 S114F possibly damaging Het
Irf3 A G 7: 45,000,376 N6S probably benign Het
Krt26 C T 11: 99,333,645 R349Q probably benign Het
Lrba A G 3: 86,359,731 D1576G probably benign Het
Lsg1 A T 16: 30,585,552 probably null Het
Mal2 T C 15: 54,588,437 F85L probably damaging Het
Me2 A C 18: 73,797,903 S106R probably benign Het
Med21 T C 6: 146,649,233 S81P probably benign Het
Mos T C 4: 3,870,961 Y285C probably damaging Het
Mtmr1 A G X: 71,393,333 N256S probably damaging Het
Olfr868 T A 9: 20,101,209 M150K probably benign Het
Prl3d2 A C 13: 27,126,016 T155P probably benign Het
R3hdm2 C T 10: 127,459,484 S240L probably damaging Het
Skint6 A T 4: 113,127,891 probably benign Het
Ubr5 A G 15: 37,992,082 S1933P probably damaging Het
Veph1 A T 3: 66,159,448 probably benign Het
Xpo7 A G 14: 70,685,465 F557S probably damaging Het
Zfp647 T C 15: 76,917,715 E30G probably damaging Het
Zfp655 A T 5: 145,243,006 I75L probably benign Het
Zfp981 C A 4: 146,537,252 Y211* probably null Het
Other mutations in AF366264
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02291:AF366264 APN 8 13837704 missense probably benign 0.03
IGL03118:AF366264 APN 8 13838096 utr 5 prime probably benign
FR4342:AF366264 UTSW 8 13837613 missense probably benign 0.00
R0636:AF366264 UTSW 8 13837870 missense probably benign 0.00
R1796:AF366264 UTSW 8 13836816 nonsense probably null
R1913:AF366264 UTSW 8 13837143 missense probably benign 0.16
R2353:AF366264 UTSW 8 13836951 missense probably damaging 1.00
R2944:AF366264 UTSW 8 13837212 missense probably damaging 1.00
R3714:AF366264 UTSW 8 13836736 missense probably benign 0.04
R4222:AF366264 UTSW 8 13838061 missense probably benign
R4628:AF366264 UTSW 8 13836625 missense probably damaging 1.00
R4801:AF366264 UTSW 8 13836970 missense possibly damaging 0.93
R4802:AF366264 UTSW 8 13836970 missense possibly damaging 0.93
R4836:AF366264 UTSW 8 13838007 missense probably benign
R5143:AF366264 UTSW 8 13836844 missense possibly damaging 0.87
R5637:AF366264 UTSW 8 13837713 missense possibly damaging 0.46
R5930:AF366264 UTSW 8 13837263 missense probably benign 0.06
R6540:AF366264 UTSW 8 13837573 missense probably benign 0.07
R6556:AF366264 UTSW 8 13837690 nonsense probably null
R6724:AF366264 UTSW 8 13837083 missense probably damaging 1.00
R7131:AF366264 UTSW 8 13836982 missense probably damaging 0.98
R7148:AF366264 UTSW 8 13837996 missense probably benign 0.01
R7660:AF366264 UTSW 8 13837995 missense probably benign 0.06
R8198:AF366264 UTSW 8 13837056 missense probably benign 0.11
R8483:AF366264 UTSW 8 13838229 start gained probably benign
R9090:AF366264 UTSW 8 13836697 missense possibly damaging 0.53
R9271:AF366264 UTSW 8 13836697 missense possibly damaging 0.53
X0020:AF366264 UTSW 8 13836847 nonsense probably null
Posted On 2015-04-16