Mutagenetix > Incidental Mutation

Incidental Mutation 'NA:Ctnnal1'

617

Institutional Source

Beutler Lab

Gene Symbol

Ctnnal1

Ensembl Gene

ENSMUSG00000038816

Gene Name

catenin alpha like 1

Synonyms

Catnal1, catenin (cadherin associated protein), alpha-like 1, ACRP

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.196) question?

Stock #

NA (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

56810935-56865188 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 56817044 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 593 (V593I)

Ref Sequence

ENSEMBL: ENSMUSP00000036487 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045142]

AlphaFold

O88327

Predicted Effect

probably benign
Transcript: ENSMUST00000045142
AA Change: V593I

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000036487
Gene: ENSMUSG00000038816
AA Change: V593I

Domain	Start	End	E-Value	Type
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

noncoding transcript
Transcript: ENSMUST00000131231

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134915

Meta Mutation Damage Score

0.1117

Coding Region Coverage

1x: 83.4%
3x: 67.1%

Het Detection Efficiency

45.4%

Validation Efficiency

80% (107/134)

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: 7 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cep350	G	A	1: 155,834,394 (GRCm39)	S101F	probably damaging	Het
Ftsj3	C	A	11: 106,145,634 (GRCm39)	M66I	possibly damaging	Het
Igf2r	C	T	17: 12,910,849 (GRCm39)	V1990I	probably benign	Het
Kansl1	G	A	11: 104,233,193 (GRCm39)	T778I	probably benign	Het
Mast4	G	A	13: 102,878,565 (GRCm39)	T1031I	probably damaging	Het
Pcna	A	G	2: 132,091,804 (GRCm39)	M199T	probably benign	Het
Trip11	C	T	12: 101,860,580 (GRCm39)		probably null	Het

Other mutations in Ctnnal1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00756:Ctnnal1	APN	4	56,829,544 (GRCm39)	missense	possibly damaging	0.90
IGL01404:Ctnnal1	APN	4	56,829,590 (GRCm39)	missense	probably damaging	1.00
IGL01523:Ctnnal1	APN	4	56,835,243 (GRCm39)	missense	probably damaging	1.00
IGL02413:Ctnnal1	APN	4	56,835,306 (GRCm39)	missense	probably benign	0.19
IGL02618:Ctnnal1	APN	4	56,817,060 (GRCm39)	missense	probably benign	0.07
IGL03109:Ctnnal1	APN	4	56,839,045 (GRCm39)	missense	probably damaging	1.00
IGL03159:Ctnnal1	APN	4	56,844,599 (GRCm39)	missense	probably benign	0.00
IGL03208:Ctnnal1	APN	4	56,813,833 (GRCm39)	missense	probably benign	0.00
IGL03250:Ctnnal1	APN	4	56,812,356 (GRCm39)	missense	probably benign	0.00
R0217:Ctnnal1	UTSW	4	56,813,230 (GRCm39)	missense	probably benign	0.43
R0391:Ctnnal1	UTSW	4	56,847,921 (GRCm39)	missense	probably damaging	1.00
R0513:Ctnnal1	UTSW	4	56,835,348 (GRCm39)	missense	probably benign	0.01
R0582:Ctnnal1	UTSW	4	56,813,228 (GRCm39)	missense	probably damaging	1.00
R1434:Ctnnal1	UTSW	4	56,847,971 (GRCm39)	missense	probably damaging	0.96
R1638:Ctnnal1	UTSW	4	56,813,856 (GRCm39)	missense	probably benign	0.06
R1760:Ctnnal1	UTSW	4	56,838,988 (GRCm39)	missense	probably damaging	1.00
R1871:Ctnnal1	UTSW	4	56,812,534 (GRCm39)	missense	probably benign	0.06
R1954:Ctnnal1	UTSW	4	56,817,242 (GRCm39)	splice site	probably benign
R2050:Ctnnal1	UTSW	4	56,835,350 (GRCm39)	missense	probably benign	0.38
R2104:Ctnnal1	UTSW	4	56,812,329 (GRCm39)	makesense	probably null
R3104:Ctnnal1	UTSW	4	56,813,246 (GRCm39)	missense	probably benign	0.11
R3106:Ctnnal1	UTSW	4	56,813,246 (GRCm39)	missense	probably benign	0.11
R3918:Ctnnal1	UTSW	4	56,865,000 (GRCm39)	missense	possibly damaging	0.89
R4705:Ctnnal1	UTSW	4	56,812,579 (GRCm39)	missense	probably benign	0.09
R4757:Ctnnal1	UTSW	4	56,847,980 (GRCm39)	missense	probably damaging	1.00
R4780:Ctnnal1	UTSW	4	56,847,857 (GRCm39)	missense	probably damaging	1.00
R4988:Ctnnal1	UTSW	4	56,847,854 (GRCm39)	nonsense	probably null
R5771:Ctnnal1	UTSW	4	56,826,328 (GRCm39)	missense	probably benign	0.00
R5974:Ctnnal1	UTSW	4	56,817,067 (GRCm39)	missense	probably damaging	1.00
R6061:Ctnnal1	UTSW	4	56,812,349 (GRCm39)	missense	probably benign
R6129:Ctnnal1	UTSW	4	56,829,573 (GRCm39)	missense	possibly damaging	0.93
R6389:Ctnnal1	UTSW	4	56,813,849 (GRCm39)	missense	probably benign	0.00
R7259:Ctnnal1	UTSW	4	56,817,299 (GRCm39)	critical splice acceptor site	probably null
R7372:Ctnnal1	UTSW	4	56,826,285 (GRCm39)	missense	possibly damaging	0.75
R7454:Ctnnal1	UTSW	4	56,844,544 (GRCm39)	missense	probably damaging	1.00
R7520:Ctnnal1	UTSW	4	56,837,838 (GRCm39)	missense	probably damaging	1.00
R7547:Ctnnal1	UTSW	4	56,817,032 (GRCm39)	missense	probably damaging	0.99
R7671:Ctnnal1	UTSW	4	56,837,848 (GRCm39)	missense	probably damaging	1.00
R8097:Ctnnal1	UTSW	4	56,847,845 (GRCm39)	missense	probably damaging	1.00
R8677:Ctnnal1	UTSW	4	56,813,272 (GRCm39)	missense	probably benign	0.00
R8697:Ctnnal1	UTSW	4	56,838,986 (GRCm39)	missense	probably damaging	0.98
R8809:Ctnnal1	UTSW	4	56,835,374 (GRCm39)	missense	possibly damaging	0.68
R9649:Ctnnal1	UTSW	4	56,865,036 (GRCm39)	missense	possibly damaging	0.95
R9739:Ctnnal1	UTSW	4	56,816,200 (GRCm39)	missense	probably damaging	1.00
R9790:Ctnnal1	UTSW	4	56,844,584 (GRCm39)	missense	possibly damaging	0.71
R9791:Ctnnal1	UTSW	4	56,844,584 (GRCm39)	missense	possibly damaging	0.71

Nature of Mutation

DNA sequencing using the SOLiD technique identified a G to A transition at position 1874 of the Ctnnal1 transcript in exon 14 of 19 exons using Genbank record NM_018761.3. Multiple transcripts of the Ctnnal1 gene are displayed on Ensembl and Vega. The mutated nucleotide causes a valine to isoleucine substitution at amino acid 593 of the encoded protein. The mutation has been confirmed by DNA sequencing using the Sanger method.

Protein Function and Prediction

The Ctnnal1 gene encodes a 731 amino acid known as alpha-catulin. The protein may modulate the Rho pathway signaling by providing a scaffold for the Rho guanine nucleotide exchange factor ARHGEF1 (Uniprot O88327).

Posted On

2011-03-23