Incidental Mutation 'IGL03109:Ctnnal1'
ID419114
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ctnnal1
Ensembl Gene ENSMUSG00000038816
Gene Namecatenin (cadherin associated protein), alpha-like 1
SynonymsCatnal1, ACRP
Accession Numbers

Genbank: NM_018761.3; Ensembl: ENSMUST00000045142, ENSMUST00000107612

Is this an essential gene? Possibly non essential (E-score: 0.296) question?
Stock #IGL03109
Quality Score
Status
Chromosome4
Chromosomal Location56810935-56865188 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 56839045 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Valine at position 216 (D216V)
Ref Sequence ENSEMBL: ENSMUSP00000036487 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045142] [ENSMUST00000107612]
Predicted Effect probably damaging
Transcript: ENSMUST00000045142
AA Change: D216V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000036487
Gene: ENSMUSG00000038816
AA Change: D216V

DomainStartEndE-ValueType
low complexity region 2 22 N/A INTRINSIC
Pfam:Vinculin 30 309 7e-39 PFAM
Pfam:Vinculin 302 526 1.7e-12 PFAM
Pfam:Vinculin 531 683 5.3e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107612
SMART Domains Protein: ENSMUSP00000103237
Gene: ENSMUSG00000038816

DomainStartEndE-ValueType
low complexity region 2 22 N/A INTRINSIC
Pfam:Vinculin 30 214 5.4e-29 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127908
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134754
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154511
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a targeted disruption of this gene are viable and fertile and exhibit no overt phenotypes or defects in hematopoiesis and hematopoietic stem cell function. [provided by MGI curators]
Allele List at MGI

All alleles(111) : Targeted, other(2) Gene trapped(109)

Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A530064D06Rik A T 17: 48,166,460 S96R probably benign Het
Abca6 T A 11: 110,180,347 H1506L probably damaging Het
Adgrg1 T A 8: 95,007,676 probably benign Het
Ahi1 A G 10: 20,970,942 T424A probably benign Het
Birc6 T A 17: 74,579,334 S552R possibly damaging Het
Bptf T C 11: 107,061,701 T2172A possibly damaging Het
Commd9 T C 2: 101,897,170 V103A probably benign Het
Dcbld2 A G 16: 58,456,402 T519A probably benign Het
Dennd6b T C 15: 89,184,985 probably benign Het
Dnah10 A G 5: 124,764,886 T1369A probably benign Het
Ect2 T C 3: 27,144,972 T222A possibly damaging Het
Eef2k G A 7: 120,891,726 G523E probably damaging Het
Ephb2 T G 4: 136,771,544 T75P probably damaging Het
Exo1 A T 1: 175,899,560 N479I probably damaging Het
Fign A G 2: 63,980,662 L88P possibly damaging Het
Golgb1 T A 16: 36,915,611 V1740E possibly damaging Het
Icos A G 1: 60,997,697 probably benign Het
Il6ra C A 3: 89,876,858 G369* probably null Het
Itpr1 A G 6: 108,417,981 D83G probably damaging Het
Kdm2a A G 19: 4,329,107 I560T probably benign Het
Lrp1 C T 10: 127,566,645 R2219H probably benign Het
Mical3 A T 6: 121,009,124 C119S probably damaging Het
Mipol1 G A 12: 57,364,224 R267H probably benign Het
Myrip A T 9: 120,453,724 probably null Het
Nelfb G A 2: 25,201,061 L542F possibly damaging Het
Nlrp4b T C 7: 10,714,946 C359R probably damaging Het
Noxred1 T A 12: 87,233,438 H40L probably damaging Het
Nphp1 A T 2: 127,768,169 probably benign Het
Olfr761 C T 17: 37,952,487 C179Y probably damaging Het
Pank3 T A 11: 35,777,674 F163L probably benign Het
Pde10a T C 17: 8,929,214 probably null Het
Pigc G A 1: 161,970,776 R109Q possibly damaging Het
Rfc3 A G 5: 151,643,094 S297P probably benign Het
Serinc1 A T 10: 57,523,069 M246K probably benign Het
Slc5a8 C T 10: 88,906,416 probably benign Het
Tecrl A G 5: 83,309,309 probably benign Het
Tex14 A T 11: 87,543,365 E119V probably damaging Het
Tmem94 A G 11: 115,792,398 K669R probably damaging Het
Tnfrsf4 C A 4: 156,015,411 H130Q probably damaging Het
Trav18 G A 14: 53,831,551 A18T probably benign Het
Other mutations in Ctnnal1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00756:Ctnnal1 APN 4 56829544 missense possibly damaging 0.90
IGL01404:Ctnnal1 APN 4 56829590 missense probably damaging 1.00
IGL01523:Ctnnal1 APN 4 56835243 missense probably damaging 1.00
IGL02413:Ctnnal1 APN 4 56835306 missense probably benign 0.19
IGL02618:Ctnnal1 APN 4 56817060 missense probably benign 0.07
IGL03159:Ctnnal1 APN 4 56844599 missense probably benign 0.00
IGL03208:Ctnnal1 APN 4 56813833 missense probably benign 0.00
IGL03250:Ctnnal1 APN 4 56812356 missense probably benign 0.00
NA:Ctnnal1 UTSW 4 56817044 missense probably benign 0.02
R0217:Ctnnal1 UTSW 4 56813230 missense probably benign 0.43
R0391:Ctnnal1 UTSW 4 56847921 missense probably damaging 1.00
R0513:Ctnnal1 UTSW 4 56835348 missense probably benign 0.01
R0582:Ctnnal1 UTSW 4 56813228 missense probably damaging 1.00
R1434:Ctnnal1 UTSW 4 56847971 missense probably damaging 0.96
R1638:Ctnnal1 UTSW 4 56813856 missense probably benign 0.06
R1760:Ctnnal1 UTSW 4 56838988 missense probably damaging 1.00
R1871:Ctnnal1 UTSW 4 56812534 missense probably benign 0.06
R1954:Ctnnal1 UTSW 4 56817242 splice site probably benign
R2050:Ctnnal1 UTSW 4 56835350 missense probably benign 0.38
R2104:Ctnnal1 UTSW 4 56812329 makesense probably null
R3104:Ctnnal1 UTSW 4 56813246 missense probably benign 0.11
R3106:Ctnnal1 UTSW 4 56813246 missense probably benign 0.11
R3918:Ctnnal1 UTSW 4 56865000 missense possibly damaging 0.89
R4705:Ctnnal1 UTSW 4 56812579 missense probably benign 0.09
R4757:Ctnnal1 UTSW 4 56847980 missense probably damaging 1.00
R4780:Ctnnal1 UTSW 4 56847857 missense probably damaging 1.00
R4988:Ctnnal1 UTSW 4 56847854 nonsense probably null
R5771:Ctnnal1 UTSW 4 56826328 missense probably benign 0.00
R5974:Ctnnal1 UTSW 4 56817067 missense probably damaging 1.00
R6061:Ctnnal1 UTSW 4 56812349 missense probably benign
R6129:Ctnnal1 UTSW 4 56829573 missense possibly damaging 0.93
R6389:Ctnnal1 UTSW 4 56813849 missense probably benign 0.00
R7259:Ctnnal1 UTSW 4 56817299 critical splice acceptor site probably null
R7372:Ctnnal1 UTSW 4 56826285 missense possibly damaging 0.75
R7454:Ctnnal1 UTSW 4 56844544 missense probably damaging 1.00
R7520:Ctnnal1 UTSW 4 56837838 missense probably damaging 1.00
R7547:Ctnnal1 UTSW 4 56817032 missense probably damaging 0.99
R7671:Ctnnal1 UTSW 4 56837848 missense probably damaging 1.00
Posted On2016-08-02