Incidental Mutation 'IGL02943:Ankrd13c'
ID364596
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ankrd13c
Ensembl Gene ENSMUSG00000039988
Gene Nameankyrin repeat domain 13c
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.792) question?
Stock #IGL02943
Quality Score
Status
Chromosome3
Chromosomal Location157947239-158008034 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 157947927 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Methionine at position 134 (T134M)
Ref Sequence ENSEMBL: ENSMUSP00000143432 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040787] [ENSMUST00000164582] [ENSMUST00000199727]
Predicted Effect possibly damaging
Transcript: ENSMUST00000040787
AA Change: T134M

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000038662
Gene: ENSMUSG00000039988
AA Change: T134M

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 possibly damaging
Transcript: ENSMUST00000164582
AA Change: T134M

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000125831
Gene: ENSMUSG00000039988
AA Change: T134M

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: T134M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000143432
Gene: ENSMUSG00000039988
AA Change: T134M

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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530053A07Rik A G 7: 28,147,188 R1102G probably damaging Het
Akp3 T A 1: 87,126,369 Y236* probably null Het
Arhgef18 T C 8: 3,448,553 S529P probably damaging Het
Cdkl2 T A 5: 92,037,244 N96I possibly damaging Het
Cep57 A T 9: 13,818,853 probably benign Het
Chchd7 T C 4: 3,942,796 Y44H probably damaging Het
Ciart T C 3: 95,879,002 I254V possibly damaging Het
Cyp2a12 T C 7: 27,032,542 I236T probably benign Het
Dlgap5 A G 14: 47,412,976 probably null Het
Ednra T A 8: 77,720,054 I132F probably damaging Het
En2 T C 5: 28,166,526 probably benign Het
Fsip2 C A 2: 82,992,357 Q6145K probably benign Het
Galnt5 A T 2: 57,999,768 D460V probably damaging Het
Gm6401 C T 14: 41,966,894 E73K possibly damaging Het
Gpr84 T C 15: 103,308,889 I254V probably benign Het
Hacd3 A T 9: 64,990,436 I298N probably damaging Het
Hyal6 T A 6: 24,743,439 V378E probably damaging Het
Il20rb G T 9: 100,466,252 H210N probably benign Het
Iqgap2 A G 13: 95,661,735 probably benign Het
Itga1 C T 13: 115,049,296 E57K possibly damaging Het
Jmjd1c T A 10: 67,219,654 D571E probably damaging Het
Kmt2c T C 5: 25,290,823 S623G probably damaging Het
L3mbtl2 T A 15: 81,686,255 S645T possibly damaging Het
Lrp2 A G 2: 69,455,510 V3779A possibly damaging Het
Lrpprc T C 17: 84,771,450 R279G probably benign Het
Lurap1l A G 4: 80,953,635 K122E probably damaging Het
Met T C 6: 17,535,929 Y785H possibly damaging Het
Myh3 T C 11: 67,091,065 F796L probably benign Het
Myo16 T C 8: 10,400,595 probably benign Het
Nedd4l T C 18: 65,161,652 probably null Het
Nlrp4c T C 7: 6,065,975 C292R probably damaging Het
Nmnat1 A G 4: 149,473,288 L99P probably damaging Het
Olfr340 A T 2: 36,453,039 L151F probably benign Het
Olfr488 A G 7: 108,255,416 F241L possibly damaging Het
Pclo T C 5: 14,669,221 V1124A unknown Het
Phf20l1 A G 15: 66,594,884 Y54C probably damaging Het
Postn T C 3: 54,377,608 probably null Het
Ppp2r1b A G 9: 50,883,585 D570G probably damaging Het
Prdm2 A C 4: 143,131,972 S1583A probably benign Het
Proser1 T C 3: 53,479,103 V802A probably damaging Het
Ptprc A T 1: 138,099,513 N532K probably damaging Het
Ptprk A G 10: 28,475,176 H555R possibly damaging Het
Ranbp6 T C 19: 29,812,124 D276G possibly damaging Het
Rasgrf2 A G 13: 91,983,633 V635A probably damaging Het
Rbm5 T C 9: 107,744,343 Y620C probably damaging Het
Sall1 C T 8: 89,031,121 R785H probably damaging Het
Slc22a2 G T 17: 12,610,061 L351F probably damaging Het
Sorcs3 A T 19: 48,759,938 Q782L probably benign Het
Sphkap A T 1: 83,276,831 S779T probably damaging Het
Stxbp2 A T 8: 3,641,971 I538F probably benign Het
Tas2r107 T A 6: 131,659,406 M227L probably damaging Het
Tecpr2 C T 12: 110,967,749 T1281I probably benign Het
Topbp1 T A 9: 103,328,440 V759E probably benign Het
Trim2 T C 3: 84,178,176 T504A probably benign Het
Trpc1 A G 9: 95,708,853 probably benign Het
Tssk4 T A 14: 55,651,566 V183E probably damaging Het
Vmn1r202 T C 13: 22,502,194 T18A probably benign Het
Vmn1r225 T C 17: 20,502,305 S3P possibly damaging Het
Vmn2r101 T A 17: 19,611,404 V554E probably damaging Het
Vps13a T C 19: 16,663,886 I2291V probably damaging Het
Vps39 A G 2: 120,339,487 S195P possibly damaging Het
Zfand4 T A 6: 116,273,876 probably benign Het
Other mutations in Ankrd13c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02313:Ankrd13c APN 3 157947934 missense probably damaging 0.97
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
Posted On2015-12-18