Incidental Mutation 'IGL03159:Ctnnal1'
ID 411357
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ctnnal1
Ensembl Gene ENSMUSG00000038816
Gene Name catenin (cadherin associated protein), alpha-like 1
Synonyms Catnal1, ACRP
Accession Numbers

Genbank: NM_018761.3; Ensembl: ENSMUST00000045142, ENSMUST00000107612

Is this an essential gene? Probably non essential (E-score: 0.185) question?
Stock # IGL03159
Quality Score
Status
Chromosome 4
Chromosomal Location 56810935-56865188 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 56844599 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 122 (R122W)
Ref Sequence ENSEMBL: ENSMUSP00000103237 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045142] [ENSMUST00000107612]
AlphaFold O88327
Predicted Effect probably benign
Transcript: ENSMUST00000045142
AA Change: R122W

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000036487
Gene: ENSMUSG00000038816
AA Change: R122W

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
AA Change: R122W

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000103237
Gene: ENSMUSG00000038816
AA Change: R122W

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: ENSMUST00000132764
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134754
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: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts6 T A 13: 104,444,215 M812K probably damaging Het
Cyp2j7 A G 4: 96,227,512 probably benign Het
Defa29 A G 8: 21,326,962 V5A possibly damaging Het
Defb22 A G 2: 152,490,075 F13L probably benign Het
Gm884 T A 11: 103,604,502 probably benign Het
Gmds C A 13: 31,819,951 D362Y probably damaging Het
Gtf2h1 T C 7: 46,806,743 V179A possibly damaging Het
Idh3b T A 2: 130,284,401 N6I probably benign Het
Kcnk7 T C 19: 5,706,088 L114P probably damaging Het
Lama1 G A 17: 67,804,536 G2261R probably damaging Het
Mfsd3 A G 15: 76,702,901 T285A probably benign Het
Olfr996 A G 2: 85,579,940 R234G probably damaging Het
Prrc2b T C 2: 32,194,486 M321T probably damaging Het
Sf3b1 A T 1: 55,012,213 N185K probably benign Het
Smo A G 6: 29,758,505 R550G probably benign Het
Tbc1d31 T G 15: 57,920,048 probably null Het
Uck1 G A 2: 32,258,322 R161C probably benign Het
Vmn1r202 G A 13: 22,501,470 T259I probably benign Het
Vmn2r72 A T 7: 85,754,954 F10I 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
IGL03109:Ctnnal1 APN 4 56839045 missense probably damaging 1.00
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
R8097:Ctnnal1 UTSW 4 56847845 missense probably damaging 1.00
R8677:Ctnnal1 UTSW 4 56813272 missense probably benign 0.00
R8697:Ctnnal1 UTSW 4 56838986 missense probably damaging 0.98
R8809:Ctnnal1 UTSW 4 56835374 missense possibly damaging 0.68
Posted On 2016-08-02