Incidental Mutation 'IGL02313:Ankrd13c'
ID 287911
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ankrd13c
Ensembl Gene ENSMUSG00000039988
Gene Name ankyrin repeat domain 13c
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.302) question?
Stock # IGL02313
Quality Score
Status
Chromosome 3
Chromosomal Location 157947239-158008034 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 157947934 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 136 (N136K)
Ref Sequence ENSEMBL: ENSMUSP00000143432 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040787] [ENSMUST00000164582] [ENSMUST00000199727]
AlphaFold Q3UX43
Predicted Effect probably benign
Transcript: ENSMUST00000040787
AA Change: N136K

PolyPhen 2 Score 0.122 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000038662
Gene: ENSMUSG00000039988
AA Change: N136K

DomainStartEndE-ValueType
low complexity region 27 52 N/A INTRINSIC
low complexity region 69 81 N/A INTRINSIC
Blast:ANK 108 139 8e-10 BLAST
ANK 143 172 2.66e-5 SMART
ANK 176 205 1.97e1 SMART
Pfam:GPCR_chapero_1 259 533 2.2e-81 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000164582
AA Change: N136K

PolyPhen 2 Score 0.122 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000125831
Gene: ENSMUSG00000039988
AA Change: N136K

DomainStartEndE-ValueType
low complexity region 27 52 N/A INTRINSIC
low complexity region 69 81 N/A INTRINSIC
Blast:ANK 108 139 8e-10 BLAST
ANK 143 172 2.66e-5 SMART
ANK 176 205 1.97e1 SMART
Pfam:GPCR_chapero_1 259 532 5.8e-73 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197872
Predicted Effect probably damaging
Transcript: ENSMUST00000199727
AA Change: N136K

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000143432
Gene: ENSMUSG00000039988
AA Change: N136K

DomainStartEndE-ValueType
low complexity region 27 52 N/A INTRINSIC
low complexity region 69 81 N/A INTRINSIC
Blast:ANK 108 139 2e-9 BLAST
ANK 143 172 1.7e-7 SMART
ANK 176 205 1.3e-1 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aph1b A T 9: 66,790,673 probably benign Het
Atf7ip A G 6: 136,606,720 K1250E probably damaging Het
Atp8b2 T C 3: 89,949,853 N400S probably damaging Het
Brca2 C A 5: 150,538,661 S630Y probably damaging Het
Chd6 T A 2: 160,965,675 E1873V probably damaging Het
Chrna10 T C 7: 102,112,029 probably benign Het
Col6a3 A G 1: 90,811,606 L907P probably damaging Het
Cxcr6 A G 9: 123,810,705 N264S probably damaging Het
Dgkg A G 16: 22,570,230 probably benign Het
Dpysl2 T G 14: 66,824,390 M256L probably benign Het
Dsp G T 13: 38,196,523 E1816* probably null Het
Fam129c A G 8: 71,602,860 R305G possibly damaging Het
Fam13b T C 18: 34,454,656 K530E probably damaging Het
Fam49a A G 12: 12,364,751 T248A possibly damaging Het
Fastk T C 5: 24,443,092 H242R probably damaging Het
Fbxw28 A T 9: 109,337,352 H145Q possibly damaging Het
Heatr6 T C 11: 83,778,892 L910P probably damaging Het
Hmcn2 A G 2: 31,453,605 T4642A possibly damaging Het
Hspg2 A G 4: 137,508,389 T167A probably benign Het
Igsf10 A G 3: 59,330,690 L690P probably benign Het
Klhdc10 G A 6: 30,439,866 probably null Het
Krt31 A G 11: 100,048,396 Y232H probably damaging Het
Lsm3 A G 6: 91,516,088 probably benign Het
Mfn2 T A 4: 147,885,490 I375F probably damaging Het
Mfrp A T 9: 44,102,874 I180F probably damaging Het
Msh3 T C 13: 92,349,312 E168G possibly damaging Het
Naa16 A T 14: 79,384,668 V77D probably damaging Het
Nav2 T C 7: 49,558,773 S1570P probably damaging Het
Numa1 C T 7: 102,000,232 R1057* probably null Het
Nup210l G A 3: 90,122,792 A271T probably damaging Het
Ogdh T C 11: 6,355,400 V965A probably damaging Het
Olfr63 C A 17: 33,269,665 Q314K probably benign Het
Olfr734 A T 14: 50,320,016 V273E probably damaging Het
Olfr818 A G 10: 129,945,903 L53P probably damaging Het
Olfr836 A T 9: 19,121,375 N140I probably damaging Het
Olfr916 T A 9: 38,658,066 I109F probably damaging Het
Pdp2 A T 8: 104,594,899 Q460L probably benign Het
Pex5l T C 3: 32,992,992 T270A probably benign Het
Pkp4 C T 2: 59,310,254 Q435* probably null Het
Prss32 G A 17: 23,856,122 V149M probably benign Het
Riox2 C A 16: 59,489,417 P378Q probably benign Het
Rita1 C T 5: 120,609,793 A147T probably damaging Het
Rsph4a T A 10: 33,905,525 S124T possibly damaging Het
Sdccag8 G A 1: 176,824,755 R24H possibly damaging Het
Slc22a1 C A 17: 12,675,500 G54* probably null Het
Slc24a5 C T 2: 125,085,647 probably benign Het
Tex101 C T 7: 24,668,325 V201M probably damaging Het
Tmprss7 T C 16: 45,681,593 Y223C probably damaging Het
Trpc4ap T C 2: 155,650,468 E382G probably damaging Het
Uggt1 A T 1: 36,184,484 Y575N probably damaging Het
Vmn2r70 T C 7: 85,565,168 I259V probably damaging Het
Xpo1 T A 11: 23,277,065 N131K probably damaging Het
Zfp579 C T 7: 4,994,433 V160M probably benign Het
Zfp697 A G 3: 98,425,450 D64G probably benign Het
Zfp974 T C 7: 27,912,253 T16A possibly damaging Het
Other mutations in Ankrd13c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02943:Ankrd13c APN 3 157947927 missense probably damaging 1.00
R0449:Ankrd13c UTSW 3 157991714 missense probably benign 0.26
R0588:Ankrd13c UTSW 3 158005817 missense probably damaging 1.00
R0787:Ankrd13c UTSW 3 157994678 missense probably null 0.98
R1459:Ankrd13c UTSW 3 157972310 missense probably damaging 1.00
R1530:Ankrd13c UTSW 3 157991721 missense probably damaging 1.00
R1534:Ankrd13c UTSW 3 158001120 missense probably benign 0.01
R4632:Ankrd13c UTSW 3 157962302 missense probably damaging 0.99
R4946:Ankrd13c UTSW 3 158005773 missense probably damaging 1.00
R5154:Ankrd13c UTSW 3 157988660 missense possibly damaging 0.51
R5672:Ankrd13c UTSW 3 157961027 critical splice donor site probably null
R5935:Ankrd13c UTSW 3 157947583 synonymous silent
R6562:Ankrd13c UTSW 3 157999672 missense probably damaging 1.00
R7358:Ankrd13c UTSW 3 157991737 nonsense probably null
R7768:Ankrd13c UTSW 3 157988647 missense probably benign 0.33
R8543:Ankrd13c UTSW 3 158004075 splice site probably null
R9166:Ankrd13c UTSW 3 157999720 missense probably benign 0.00
R9272:Ankrd13c UTSW 3 157994721 missense possibly damaging 0.90
R9476:Ankrd13c UTSW 3 157991759 missense probably benign 0.01
R9628:Ankrd13c UTSW 3 157947676 missense probably benign 0.00
R9629:Ankrd13c UTSW 3 157947676 missense probably benign 0.00
Posted On 2015-04-16