Mutagenetix > Incidental Mutation

Incidental Mutation 'R0482:Ctnnbl1'

42013

Institutional Source

Beutler Lab

Gene Symbol

Ctnnbl1

Ensembl Gene

ENSMUSG00000027649

Gene Name

catenin, beta like 1

Synonyms

P14L, FLJ21108, NYD-SP19, 5730471K09Rik

MMRRC Submission

038682-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.964) question?

Stock #

R0482 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

157737401-157891614 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to A at 157871190 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000029178 (fasta)

Gene Model

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

AlphaFold

Q9CWL8

Predicted Effect

probably null
Transcript: ENSMUST00000029178

SMART Domains

Protein: ENSMUSP00000029178
Gene: ENSMUSG00000027649

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

Predicted Effect

probably null
Transcript: ENSMUST00000029178

SMART Domains

Protein: ENSMUSP00000029178
Gene: ENSMUSG00000027649

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

Meta Mutation Damage Score

0.9510

Coding Region Coverage

1x: 99.6%
3x: 98.8%
10x: 96.8%
20x: 93.4%

Validation Efficiency

95% (94/99)

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	T	C	17: 8,988,423		probably null	Het
Abca13	G	A	11: 9,328,207	G3129D	possibly damaging	Het
Acnat2	T	C	4: 49,383,534	I6M	probably benign	Het
Adcy4	T	A	14: 55,774,572		probably null	Het
Agrn	A	G	4: 156,173,555	S1117P	probably damaging	Het
Anks1b	A	G	10: 90,359,195	N545S	probably benign	Het
Antxr1	C	T	6: 87,269,238		probably null	Het
Arhgef17	T	C	7: 100,880,621	K476E	probably damaging	Het
Bptf	T	C	11: 107,081,262	S927G	probably benign	Het
Cacna1s	C	T	1: 136,113,394	T1286I	probably benign	Het
Ccdc174	T	A	6: 91,895,266	M292K	probably benign	Het
Cdk5rap2	G	A	4: 70,410,269		probably benign	Het
Celsr3	T	A	9: 108,829,073	Y918*	probably null	Het
Cep250	T	C	2: 155,964,974		probably benign	Het
Ces2h	A	G	8: 105,020,271	D513G	possibly damaging	Het
Clec2l	A	G	6: 38,663,392	T53A	probably benign	Het
Cntnap2	C	T	6: 45,715,816	S77L	probably benign	Het
Cped1	A	T	6: 22,016,958	H102L	probably benign	Het
Crim1	T	A	17: 78,372,579	D916E	probably benign	Het
Csmd1	T	A	8: 16,233,101	I614F	probably damaging	Het
Csnk1g1	G	A	9: 66,010,469	E37K	probably damaging	Het
Cuzd1	A	T	7: 131,309,872		probably benign	Het
Cyp4f16	T	A	17: 32,550,551	V433D	probably damaging	Het
Ddi1	A	G	9: 6,266,144	L75P	probably damaging	Het
Ddias	G	A	7: 92,859,528	A393V	probably benign	Het
Dgka	A	T	10: 128,734,121	Y123*	probably null	Het
Dlgap1	T	C	17: 70,516,190	C57R	probably benign	Het
Dysf	T	A	6: 84,152,405	V1458D	probably benign	Het
Eif2ak4	T	A	2: 118,462,347	Y1230N	probably damaging	Het
Fam160a2	G	A	7: 105,384,212	P599L	possibly damaging	Het
Fam46a	T	C	9: 85,325,055	Y230C	probably damaging	Het
Fbxl7	A	T	15: 26,543,546	S338R	probably benign	Het
Fgf23	A	T	6: 127,073,159	T44S	probably damaging	Het
Folh1	A	T	7: 86,746,101		probably benign	Het
Gpsm2	A	T	3: 108,702,394		probably benign	Het
Hdac2	T	A	10: 36,989,134		probably benign	Het
Hist1h2bl	A	G	13: 21,716,125		probably benign	Het
Il31ra	G	T	13: 112,527,481	T446N	possibly damaging	Het
Irf5	T	A	6: 29,535,370	L199H	probably benign	Het
Kif18a	T	A	2: 109,287,843	M1K	probably null	Het
Kif4-ps	A	C	12: 101,148,662	I1017L	probably benign	Het
Klhl2	C	T	8: 64,758,130	V295M	probably benign	Het
Krt75	A	T	15: 101,570,311	M296K	probably benign	Het
Krt81	C	A	15: 101,463,627	R24L	possibly damaging	Het
Lgr4	T	C	2: 110,008,092	S439P	probably damaging	Het
Lhfpl2	C	A	13: 94,174,610	N129K	probably damaging	Het
Lnx2	A	G	5: 147,018,961	V675A	probably damaging	Het
Med13	T	C	11: 86,285,151	T1673A	probably benign	Het
Mif	A	G	10: 75,860,140	V10A	possibly damaging	Het
Mki67	A	T	7: 135,699,429	I1292N	possibly damaging	Het
Mylip	C	A	13: 45,404,583	N89K	probably benign	Het
Myo19	G	T	11: 84,909,419	D877Y	probably benign	Het
Nckap5	A	G	1: 126,026,365	S753P	possibly damaging	Het
Nlrc3	T	C	16: 3,965,192	T118A	possibly damaging	Het
Nptx2	T	C	5: 144,553,459	Y233H	probably damaging	Het
Nsl1	T	A	1: 191,063,040	M1K	probably null	Het
Ntsr1	T	A	2: 180,501,056	S213R	possibly damaging	Het
Olfr1225	A	T	2: 89,170,631	F194I	probably benign	Het
Olfr48	A	G	2: 89,844,169	V268A	probably benign	Het
Olfr669	T	A	7: 104,938,814	F96Y	possibly damaging	Het
Pde4d	G	A	13: 109,936,710	V347I	probably benign	Het
Pik3r4	T	A	9: 105,669,045	S865T	probably benign	Het
Ppp2r2d	A	G	7: 138,870,431	R136G	probably benign	Het
Proser2	A	C	2: 6,113,910	S41A	probably damaging	Het
Proz	A	T	8: 13,073,460	K244*	probably null	Het
Prpf38b	A	T	3: 108,905,270	L209H	probably damaging	Het
R3hdm1	C	A	1: 128,184,517	A390E	probably benign	Het
Rb1cc1	A	C	1: 6,240,323	D315A	probably damaging	Het
Rnf141	G	A	7: 110,837,138	R28*	probably null	Het
Rps6kc1	A	T	1: 190,799,430	S792T	probably benign	Het
Rxrg	A	G	1: 167,631,037	D233G	possibly damaging	Het
Sh2d7	A	G	9: 54,541,037	N114S	probably benign	Het
Slc25a38	T	C	9: 120,120,833	V205A	probably benign	Het
Slc4a10	T	C	2: 62,297,017		probably benign	Het
Spred1	T	A	2: 117,152,978		probably null	Het
Stt3b	A	G	9: 115,248,567	S706P	probably benign	Het
Tcerg1	C	A	18: 42,564,240		probably benign	Het
Thsd4	A	T	9: 60,002,978	I109N	probably damaging	Het
Ticrr	C	A	7: 79,694,488	P1367Q	probably damaging	Het
Trpv1	A	G	11: 73,239,429	D146G	probably damaging	Het
Tubd1	T	G	11: 86,557,776	V305G	possibly damaging	Het
Tubgcp4	T	C	2: 121,175,374	L81P	probably benign	Het
Ubxn2b	T	A	4: 6,196,404		probably null	Het
Usp36	A	T	11: 118,265,194	S586T	probably benign	Het
Vcan	T	A	13: 89,678,145	D2220V	probably damaging	Het
Vmn1r173	T	A	7: 23,702,791	N150K	probably damaging	Het
Vmn1r70	G	A	7: 10,634,277	A231T	probably damaging	Het
Vmn2r97	A	G	17: 18,947,668	D728G	probably damaging	Het
Zbtb40	T	C	4: 136,983,228	E1200G	probably damaging	Het
Zfp365	A	T	10: 67,897,606	V252D	probably 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
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
R7769:Ctnnbl1	UTSW	2	157737470	start gained	probably benign
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'- GGCTGTGTTCCAAGATGGCTCTAC -3'
(R):5'- AGCAGTCTCTGGCTCTGCTCTTAG -3'

Sequencing Primer
(F):5'- TTCCAGGGCACATGTTCAAG -3'
(R):5'- CTTAGGACTTTAGGTGGCCC -3'

Posted On

2013-05-23