Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01622:Ctnnbl1'

278643

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ctnnbl1

Ensembl Gene

ENSMUSG00000027649

Gene Name

catenin, beta like 1

Synonyms

NYD-SP19, 5730471K09Rik, P14L, FLJ21108

Accession Numbers

Essential gene?

Probably essential (E-score: 0.959) question?

Stock #

IGL01622

Quality Score

Status

Chromosome

Chromosomal Location

157579321-157733534 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 157661468 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 326 (N326I)

Ref Sequence

ENSEMBL: ENSMUSP00000029178 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029178]

AlphaFold

Q9CWL8

Predicted Effect

probably damaging
Transcript: ENSMUST00000029178
AA Change: N326I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000029178
Gene: ENSMUSG00000027649
AA Change: N326I

Domain	Start	End	E-Value	Type
DUF1716	52	162	3.97e-61	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129842

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156300

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a component of the pre-mRNA-processing factor 19-cell division cycle 5-like (PRP19-CDC5L) protein complex, which activates pre-mRNA splicing and is an integral part of the spliceosome. The encoded protein is also a nuclear localization sequence binding protein, and binds to activation-induced deaminase and is important for antibody diversification. This gene may also be associated with the development of obesity. Alternative splicing results in multiple transcript variants. A pseudogene of this gene has been defined on the X chromosome. [provided by RefSeq, Jul 2013]
PHENOTYPE:

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930596D02Rik	G	A	14: 35,532,024 (GRCm39)	Q184*	probably null	Het
A1bg	A	C	15: 60,789,742 (GRCm39)	I502S	possibly damaging	Het
Actl11	T	C	9: 107,805,775 (GRCm39)	S33P	probably benign	Het
Aftph	G	T	11: 20,659,632 (GRCm39)	D730E	probably damaging	Het
Arhgap29	A	G	3: 121,767,773 (GRCm39)		probably benign	Het
Brf1	T	G	12: 112,924,795 (GRCm39)	E643A	probably benign	Het
Caskin1	G	T	17: 24,722,914 (GRCm39)		probably null	Het
Ccnjl	T	C	11: 43,476,154 (GRCm39)	V259A	probably benign	Het
Ccser2	G	T	14: 36,662,920 (GRCm39)	T88K	probably benign	Het
Cdk17	T	C	10: 93,074,824 (GRCm39)		probably benign	Het
Clec16a	G	A	16: 10,395,774 (GRCm39)	S309N	possibly damaging	Het
Cpxm1	C	A	2: 130,233,191 (GRCm39)	A633S	probably benign	Het
Cyp46a1	T	C	12: 108,318,234 (GRCm39)	V215A	possibly damaging	Het
Daxx	A	G	17: 34,132,454 (GRCm39)	D528G	probably benign	Het
Dnah6	T	C	6: 73,121,701 (GRCm39)	Y1427C	probably damaging	Het
Dpy19l3	G	A	7: 35,422,169 (GRCm39)	T228I	probably damaging	Het
Fam131c	C	T	4: 141,109,761 (GRCm39)	A131V	possibly damaging	Het
Fat1	A	G	8: 45,482,592 (GRCm39)	T3061A	possibly damaging	Het
Fgl2	T	A	5: 21,578,175 (GRCm39)	L154H	possibly damaging	Het
Fhod3	T	A	18: 25,155,924 (GRCm39)	I514K	probably benign	Het
Ficd	G	A	5: 113,876,622 (GRCm39)	G266S	probably damaging	Het
Frem3	A	G	8: 81,340,544 (GRCm39)	T946A	probably benign	Het
Gan	T	A	8: 117,913,917 (GRCm39)	V105D	probably damaging	Het
Garin5b	A	G	7: 4,761,722 (GRCm39)	V330A	probably benign	Het
Gramd1c	A	G	16: 43,811,061 (GRCm39)	V221A	probably damaging	Het
Hacd1	A	G	2: 14,040,667 (GRCm39)	V196A	probably benign	Het
Kcna6	C	A	6: 126,715,576 (GRCm39)	V438L	probably damaging	Het
Kif14	T	C	1: 136,425,094 (GRCm39)		probably benign	Het
Klhl41	T	C	2: 69,508,582 (GRCm39)	V512A	probably benign	Het
Lrfn1	A	G	7: 28,166,111 (GRCm39)	T502A	probably damaging	Het
Notch3	A	T	17: 32,377,844 (GRCm39)	F105I	possibly damaging	Het
Or4b13	T	G	2: 90,082,953 (GRCm39)	K126N	probably damaging	Het
Or5m10	A	T	2: 85,717,306 (GRCm39)	H54L	probably benign	Het
P3h1	C	T	4: 119,092,480 (GRCm39)	T171I	probably damaging	Het
Pcdhb1	A	G	18: 37,399,366 (GRCm39)	E439G	possibly damaging	Het
Pik3c3	A	T	18: 30,423,578 (GRCm39)	K225*	probably null	Het
Pik3c3	A	G	18: 30,426,102 (GRCm39)		probably benign	Het
Pik3r5	T	A	11: 68,377,452 (GRCm39)		probably null	Het
Pnpt1	A	C	11: 29,098,272 (GRCm39)		probably benign	Het
Ppp2r1b	T	A	9: 50,789,422 (GRCm39)	V495D	probably damaging	Het
Rbfox3	C	A	11: 118,396,440 (GRCm39)		probably benign	Het
Sec14l2	G	A	11: 4,053,966 (GRCm39)	P234S	possibly damaging	Het
Sec16a	A	C	2: 26,328,915 (GRCm39)	D1033E	probably benign	Het
Septin14	A	G	5: 129,763,019 (GRCm39)	V357A	probably damaging	Het
Sf3a3	C	T	4: 124,612,136 (GRCm39)	T131I	possibly damaging	Het
Snrpa	A	T	7: 26,892,395 (GRCm39)	M55K	probably benign	Het
Swt1	G	T	1: 151,286,760 (GRCm39)	T244N	probably benign	Het
Tbl1xr1	A	G	3: 22,246,238 (GRCm39)	T253A	probably benign	Het
Tst	G	T	15: 78,283,964 (GRCm39)	R288S	probably benign	Het
Vmn2r60	A	G	7: 41,785,910 (GRCm39)	I238V	probably benign	Het
Zbtb14	A	G	17: 69,695,184 (GRCm39)	K294R	probably benign	Het
Zfp710	T	A	7: 79,730,871 (GRCm39)	V16E	probably damaging	Het
Zfpm2	A	G	15: 40,965,320 (GRCm39)	T602A	probably benign	Het
Zfr2	G	A	10: 81,087,193 (GRCm39)	M850I	probably benign	Het

Other mutations in Ctnnbl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00754:Ctnnbl1	APN	2	157,661,461 (GRCm39)	missense	possibly damaging	0.80
IGL01374:Ctnnbl1	APN	2	157,678,613 (GRCm39)	critical splice donor site	probably null
IGL01504:Ctnnbl1	APN	2	157,660,036 (GRCm39)	splice site	probably benign
IGL01623:Ctnnbl1	APN	2	157,661,468 (GRCm39)	missense	probably damaging	1.00
IGL02146:Ctnnbl1	APN	2	157,661,414 (GRCm39)	missense	probably damaging	1.00
IGL02550:Ctnnbl1	APN	2	157,726,055 (GRCm39)	missense	probably benign	0.00
IGL03104:Ctnnbl1	APN	2	157,732,885 (GRCm39)	missense	probably damaging	0.99
IGL03164:Ctnnbl1	APN	2	157,659,681 (GRCm39)	missense	probably benign
R0482:Ctnnbl1	UTSW	2	157,713,110 (GRCm39)	critical splice donor site	probably null
R0826:Ctnnbl1	UTSW	2	157,641,337 (GRCm39)	splice site	probably benign
R0827:Ctnnbl1	UTSW	2	157,641,337 (GRCm39)	splice site	probably benign
R0862:Ctnnbl1	UTSW	2	157,641,337 (GRCm39)	splice site	probably benign
R0863:Ctnnbl1	UTSW	2	157,641,337 (GRCm39)	splice site	probably benign
R0864:Ctnnbl1	UTSW	2	157,641,337 (GRCm39)	splice site	probably benign
R1466:Ctnnbl1	UTSW	2	157,641,337 (GRCm39)	splice site	probably benign
R1533:Ctnnbl1	UTSW	2	157,678,563 (GRCm39)	missense	probably benign
R2971:Ctnnbl1	UTSW	2	157,713,106 (GRCm39)	missense	probably benign	0.06
R3522:Ctnnbl1	UTSW	2	157,713,113 (GRCm39)	splice site	probably null
R4296:Ctnnbl1	UTSW	2	157,661,490 (GRCm39)	splice site	probably null
R4982:Ctnnbl1	UTSW	2	157,678,473 (GRCm39)	missense	probably benign	0.01
R5396:Ctnnbl1	UTSW	2	157,659,752 (GRCm39)	splice site	probably null
R5857:Ctnnbl1	UTSW	2	157,631,018 (GRCm39)	missense	probably damaging	1.00
R7710:Ctnnbl1	UTSW	2	157,616,491 (GRCm39)	missense	probably benign	0.00
R7769:Ctnnbl1	UTSW	2	157,579,390 (GRCm39)	start gained	probably benign
R8134:Ctnnbl1	UTSW	2	157,651,391 (GRCm39)	missense	probably benign	0.19
R8324:Ctnnbl1	UTSW	2	157,621,735 (GRCm39)	missense	probably damaging	0.97
R8384:Ctnnbl1	UTSW	2	157,659,980 (GRCm39)	missense	probably benign	0.01
R8430:Ctnnbl1	UTSW	2	157,678,603 (GRCm39)	missense	probably damaging	0.99
R9116:Ctnnbl1	UTSW	2	157,648,623 (GRCm39)	missense	probably damaging	1.00
R9244:Ctnnbl1	UTSW	2	157,678,583 (GRCm39)	missense	possibly damaging	0.63
R9350:Ctnnbl1	UTSW	2	157,651,445 (GRCm39)	missense	possibly damaging	0.91

Posted On

2015-04-16