Mutagenetix > Incidental Mutation

Incidental Mutation 'R7769:Ctnnbl1'

598446

Institutional Source

Beutler Lab

Gene Symbol

Ctnnbl1

Ensembl Gene

ENSMUSG00000027649

Gene Name

catenin, beta like 1

Synonyms

P14L, FLJ21108, NYD-SP19, 5730471K09Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.963) question?

Stock #

R7769 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

157737401-157891614 bp(+) (GRCm38)

Type of Mutation

start gained

DNA Base Change (assembly)

C to T at 157737470 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000029178 (fasta)

Gene Model

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

AlphaFold

Q9CWL8

Predicted Effect

probably benign
Transcript: ENSMUST00000029178

SMART Domains

Protein: ENSMUSP00000029178
Gene: ENSMUSG00000027649

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

96% (71/74)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc4	ACCAGCCC	ACC	14: 118,615,270		probably null	Het
Abhd14b	T	C	9: 106,451,620	Y147H	probably damaging	Het
Adam26b	C	A	8: 43,521,695	R90L	probably benign	Het
Agt	A	T	8: 124,564,550	M6K	probably benign	Het
Akr1c14	T	C	13: 4,059,644	S5P	probably benign	Het
Arhgef38	A	C	3: 133,149,622	S235A	unknown	Het
Cabp5	A	G	7: 13,400,733	D31G	probably benign	Het
Cacna1h	T	A	17: 25,385,805	D1178V	probably damaging	Het
Ccdc88a	A	T	11: 29,482,381	E1199D	probably damaging	Het
Cd244	A	T	1: 171,577,305	I242F	probably benign	Het
Clpb	G	T	7: 101,722,717	R220L	probably damaging	Het
Cltc	C	T	11: 86,719,493	R638H	probably damaging	Het
Cnr1	A	T	4: 33,944,892	M427L	probably benign	Het
Epb41l2	A	T	10: 25,493,573	T597S	probably benign	Het
Epb41l3	T	C	17: 69,238,426	Y163H	probably damaging	Het
Fam129b	A	G	2: 32,919,832	T314A	possibly damaging	Het
Fgg	A	G	3: 83,013,126		probably null	Het
Gm37240	A	T	3: 84,509,925	D162E	possibly damaging	Het
Gm44511	T	A	6: 128,820,277	T83S	probably benign	Het
Gm6685	T	A	11: 28,339,252	Y188F	probably benign	Het
Gprin2	A	T	14: 34,195,613	C67S	probably benign	Het
Grk6	A	G	13: 55,451,007	D140G	probably benign	Het
Hps3	T	C	3: 20,018,808		probably null	Het
Hspb7	T	C	4: 141,424,024	V159A	possibly damaging	Het
Ibsp	A	G	5: 104,306,005	N70D	probably benign	Het
Ibsp	A	G	5: 104,310,184	N196D	probably damaging	Het
Igfn1	A	T	1: 135,982,405	F147Y	possibly damaging	Het
Iqca	T	G	1: 90,077,810	D492A	possibly damaging	Het
Klhl42	T	C	6: 147,091,860	L110P	possibly damaging	Het
Krt12	C	T	11: 99,418,026	R395Q	probably damaging	Het
Lig4	A	T	8: 9,973,629	H50Q	possibly damaging	Het
Mttp	A	C	3: 138,103,112	L730R	probably damaging	Het
Muc16	T	A	9: 18,660,507	I239L	unknown	Het
Myo15	T	C	11: 60,509,149	F1723L		Het
Nin	T	C	12: 70,043,230	D1137G		Het
Nsf	C	T	11: 103,928,839	V35M	probably damaging	Het
Numa1	T	A	7: 101,999,000	I646K	possibly damaging	Het
Nwd2	A	G	5: 63,804,504	N477S	probably damaging	Het
Olfr59	T	A	11: 74,288,763	V39E	probably damaging	Het
P4ha3	A	G	7: 100,285,717	D62G	probably damaging	Het
Palb2	G	T	7: 122,128,415	D77E	probably benign	Het
Pcmtd2	T	C	2: 181,851,701	V233A	probably benign	Het
Perm1	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	4: 156,218,068		probably benign	Het
Pgr	C	T	9: 8,946,855	T699I	possibly damaging	Het
Pknox2	C	A	9: 36,895,306		probably null	Het
Ppp2r3d	T	C	9: 124,439,087	H110R		Het
Psmd11	T	A	11: 80,434,582		probably benign	Het
Pyroxd2	T	C	19: 42,747,562	N59S	probably benign	Het
Qser1	A	T	2: 104,758,576	D1662E	possibly damaging	Het
Rasip1	A	G	7: 45,628,815	Y180C	probably damaging	Het
Rbl1	T	C	2: 157,191,980	S393G	probably benign	Het
Rtn4r	C	T	16: 18,151,289	P194S	probably benign	Het
Ryr1	C	T	7: 29,098,785	G944D	probably damaging	Het
Scamp3	A	G	3: 89,177,991	D23G	probably damaging	Het
Secisbp2l	CTGGG	C	2: 125,771,545		probably benign	Het
Shcbp1	A	G	8: 4,739,232	I529T	probably damaging	Het
Slc5a10	T	A	11: 61,673,647	D502V	probably damaging	Het
Smad5	T	C	13: 56,733,042	I323T	possibly damaging	Het
Spred1	T	C	2: 117,177,449	S279P	probably benign	Het
Stag1	T	A	9: 100,944,827	V949D	possibly damaging	Het
Stxbp3	A	G	3: 108,800,828	S386P	probably benign	Het
Syt14	A	G	1: 192,984,324	S91P	unknown	Het
Thpo	C	T	16: 20,725,651	A211T	probably benign	Het
Tns1	T	A	1: 73,953,371	D716V	probably damaging	Het
Trbv26	A	G	6: 41,227,547	Y8C	probably benign	Het
Tshr	A	G	12: 91,538,270	I661V	probably damaging	Het
Uvrag	G	A	7: 98,979,721	P380S	probably damaging	Het
Vkorc1	G	T	7: 127,894,524	Y88*	probably null	Het
Vmn1r63	C	T	7: 5,803,370	V88M	probably damaging	Het
Wdsub1	A	G	2: 59,878,419	Y37H	probably damaging	Het
Zap70	A	G	1: 36,770,902	D31G	probably benign	Het
Zc3h12d	G	A	10: 7,867,626	A387T	probably benign	Het
Zfp438	C	T	18: 5,213,377	R527H	possibly damaging	Het

Other mutations in Ctnnbl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00754:Ctnnbl1	APN	2	157819541	missense	possibly damaging	0.80
IGL01374:Ctnnbl1	APN	2	157836693	critical splice donor site	probably null
IGL01504:Ctnnbl1	APN	2	157818116	splice site	probably benign
IGL01622:Ctnnbl1	APN	2	157819548	missense	probably damaging	1.00
IGL01623:Ctnnbl1	APN	2	157819548	missense	probably damaging	1.00
IGL02146:Ctnnbl1	APN	2	157819494	missense	probably damaging	1.00
IGL02550:Ctnnbl1	APN	2	157884135	missense	probably benign	0.00
IGL03104:Ctnnbl1	APN	2	157890965	missense	probably damaging	0.99
IGL03164:Ctnnbl1	APN	2	157817761	missense	probably benign
R0482:Ctnnbl1	UTSW	2	157871190	critical splice donor site	probably null
R0826:Ctnnbl1	UTSW	2	157799417	splice site	probably benign
R0827:Ctnnbl1	UTSW	2	157799417	splice site	probably benign
R0862:Ctnnbl1	UTSW	2	157799417	splice site	probably benign
R0863:Ctnnbl1	UTSW	2	157799417	splice site	probably benign
R0864:Ctnnbl1	UTSW	2	157799417	splice site	probably benign
R1466:Ctnnbl1	UTSW	2	157799417	splice site	probably benign
R1533:Ctnnbl1	UTSW	2	157836643	missense	probably benign
R2971:Ctnnbl1	UTSW	2	157871186	missense	probably benign	0.06
R3522:Ctnnbl1	UTSW	2	157871193	splice site	probably null
R4296:Ctnnbl1	UTSW	2	157819570	splice site	probably null
R4982:Ctnnbl1	UTSW	2	157836553	missense	probably benign	0.01
R5396:Ctnnbl1	UTSW	2	157817832	splice site	probably null
R5857:Ctnnbl1	UTSW	2	157789098	missense	probably damaging	1.00
R7710:Ctnnbl1	UTSW	2	157774571	missense	probably benign	0.00
R8134:Ctnnbl1	UTSW	2	157809471	missense	probably benign	0.19
R8324:Ctnnbl1	UTSW	2	157779815	missense	probably damaging	0.97
R8384:Ctnnbl1	UTSW	2	157818060	missense	probably benign	0.01
R8430:Ctnnbl1	UTSW	2	157836683	missense	probably damaging	0.99
R9116:Ctnnbl1	UTSW	2	157806703	missense	probably damaging	1.00
R9244:Ctnnbl1	UTSW	2	157836663	missense	possibly damaging	0.63
R9350:Ctnnbl1	UTSW	2	157809525	missense	possibly damaging	0.91

Predicted Primers

PCR Primer
(F):5'- GGTTCATCCCCTAAGTATCCG -3'
(R):5'- TGCAATGACAGGATGCAAGC -3'

Sequencing Primer
(F):5'- AAGTATCCGCCCCTTTCCC -3'
(R):5'- CAAGCCCGGGTGACATGAG -3'

Posted On

2019-11-26