Mutagenetix > Incidental Mutation

Incidental Mutation 'R3522:Ctnnbl1'

267515

Institutional Source

Beutler Lab

Gene Symbol

Ctnnbl1

Ensembl Gene

ENSMUSG00000027649

Gene Name

catenin, beta like 1

Synonyms

P14L, FLJ21108, NYD-SP19, 5730471K09Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.964) question?

Stock #

R3522 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

157737401-157891614 bp(+) (GRCm38)

Type of Mutation

splice site (5 bp from exon)

DNA Base Change (assembly)

G to T at 157871193 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

0.9755

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.8%

Validation Efficiency

100% (72/72)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd35	A	G	3: 96,685,062 (GRCm38)	E888G	probably damaging	Het
Arhgef10	T	C	8: 14,954,918 (GRCm38)	F150S	probably damaging	Het
Atp10d	G	T	5: 72,239,157 (GRCm38)	R235L	probably benign	Het
Cacna1b	A	G	2: 24,763,043 (GRCm38)	V2A	possibly damaging	Het
Cand1	A	T	10: 119,239,197 (GRCm38)	L15Q	probably benign	Het
Cavin3	C	A	7: 105,481,143 (GRCm38)	G154V	probably benign	Het
Ccdc73	A	T	2: 104,991,485 (GRCm38)	D593V	probably damaging	Het
Cdk5rap2	T	C	4: 70,250,410 (GRCm38)	K161E	probably damaging	Het
Chil4	A	T	3: 106,203,740 (GRCm38)	N279K	probably benign	Het
Chst13	T	G	6: 90,318,263 (GRCm38)	D56A	probably damaging	Het
Cnn1	C	A	9: 22,099,368 (GRCm38)	H5N	probably benign	Het
Cpsf4l	T	A	11: 113,702,493 (GRCm38)	K88N	probably damaging	Het
Dnah7a	A	C	1: 53,618,116 (GRCm38)	F834V	probably damaging	Het
Fbxo41	A	G	6: 85,484,181 (GRCm38)	S182P	probably benign	Het
Fkbp5	T	C	17: 28,415,996 (GRCm38)	T180A	probably benign	Het
Flg2	T	A	3: 93,220,027 (GRCm38)	I2082N	unknown	Het
Gm4968	A	G	6: 127,233,762 (GRCm38)		noncoding transcript	Het
Gpc5	T	A	14: 116,524,335 (GRCm38)	H612Q	probably benign	Het
Gsg1	A	T	6: 135,241,253 (GRCm38)	V212D	probably damaging	Het
Hipk1	A	G	3: 103,744,114 (GRCm38)	V1111A	probably damaging	Het
Hormad1	A	T	3: 95,576,285 (GRCm38)	Q136L	probably benign	Het
Ifi35	T	A	11: 101,457,685 (GRCm38)	S147R	probably benign	Het
Iqca1l	A	G	5: 24,549,626 (GRCm38)		probably null	Het
Iqgap3	C	T	3: 88,090,782 (GRCm38)	A282V	probably null	Het
Jmy	T	C	13: 93,454,050 (GRCm38)	D515G	probably damaging	Het
Kctd10	G	A	5: 114,374,923 (GRCm38)	R64C	probably damaging	Het
Kidins220	T	C	12: 24,990,758 (GRCm38)	V121A	probably damaging	Het
Lcn3	G	A	2: 25,766,121 (GRCm38)	V63M	possibly damaging	Het
Lmx1b	T	A	2: 33,639,531 (GRCm38)	Y72F	probably benign	Het
Lrp1	T	C	10: 127,553,555 (GRCm38)	D3164G	probably damaging	Het
Mdh1b	C	T	1: 63,719,768 (GRCm38)	V222M	probably damaging	Het
Mst1	T	C	9: 108,081,503 (GRCm38)		probably benign	Het
Myo7b	C	A	18: 32,010,079 (GRCm38)	V189F	probably damaging	Het
Ndc1	T	C	4: 107,393,158 (GRCm38)	S533P	probably damaging	Het
Ndrg3	T	C	2: 156,944,027 (GRCm38)	D164G	probably damaging	Het
Nol11	C	T	11: 107,173,628 (GRCm38)	C500Y	possibly damaging	Het
Nsd3	A	G	8: 25,706,614 (GRCm38)	N1208D	probably benign	Het
Nup155	C	T	15: 8,156,678 (GRCm38)		probably benign	Het
Olfr911-ps1	A	G	9: 38,523,785 (GRCm38)	T18A	probably damaging	Het
Or5ak20	A	T	2: 85,353,003 (GRCm38)	C308S	probably benign	Het
Or6c38	A	G	10: 129,093,842 (GRCm38)	I44T	possibly damaging	Het
Or8b54	A	T	9: 38,775,720 (GRCm38)	D155V	possibly damaging	Het
Phf3	A	G	1: 30,805,603 (GRCm38)	L1425P	probably damaging	Het
Pla2r1	A	G	2: 60,448,906 (GRCm38)	Y777H	probably damaging	Het
Pld1	A	G	3: 28,031,247 (GRCm38)	E184G	probably damaging	Het
Plxna1	T	C	6: 89,337,353 (GRCm38)		probably null	Het
Ptgfrn	T	C	3: 101,043,402 (GRCm38)	E865G	probably damaging	Het
Ptpn13	G	T	5: 103,589,854 (GRCm38)		probably benign	Het
Pygb	G	T	2: 150,828,553 (GRCm38)	V763F	probably benign	Het
Ros1	A	C	10: 52,090,995 (GRCm38)	Y1705*	probably null	Het
Sec61a2	A	G	2: 5,893,216 (GRCm38)	F5L	probably benign	Het
Skint5	A	G	4: 113,756,905 (GRCm38)		probably null	Het
Sntg2	A	G	12: 30,312,567 (GRCm38)	V60A	probably damaging	Het
Sppl2a	A	G	2: 126,920,322 (GRCm38)	C280R	possibly damaging	Het
Srrm4	A	C	5: 116,446,544 (GRCm38)	M1R	probably null	Het
Sult1c1	T	C	17: 53,972,015 (GRCm38)	E91G	probably damaging	Het
Themis2	C	G	4: 132,785,595 (GRCm38)	R440P	probably damaging	Het
Tmem229a	A	G	6: 24,955,059 (GRCm38)	L232P	probably benign	Het
Trappc1	T	C	11: 69,324,422 (GRCm38)	F43L	probably damaging	Het
Trappc11	A	T	8: 47,498,673 (GRCm38)	Y982N	possibly damaging	Het
Trpv6	A	T	6: 41,627,405 (GRCm38)	M139K	probably damaging	Het
Txnrd3	A	G	6: 89,663,075 (GRCm38)		probably null	Het
Vmn1r184	T	A	7: 26,267,583 (GRCm38)	Y251*	probably null	Het
Vmn1r216	A	G	13: 23,099,374 (GRCm38)	N76D	possibly damaging	Het
Vmn1r71	C	A	7: 10,747,865 (GRCm38)	V233F	probably benign	Het
Vps13a	A	C	19: 16,766,493 (GRCm38)		probably benign	Het
Vwa5b2	A	G	16: 20,601,608 (GRCm38)	S756G	probably damaging	Het
Wdr36	T	A	18: 32,861,485 (GRCm38)		probably null	Het
Wdr86	A	G	5: 24,718,307 (GRCm38)	V129A	probably benign	Het
Zfyve9	A	G	4: 108,719,743 (GRCm38)	L47S	probably benign	Het

Other mutations in Ctnnbl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00754:Ctnnbl1	APN	2	157,819,541 (GRCm38)	missense	possibly damaging	0.80
IGL01374:Ctnnbl1	APN	2	157,836,693 (GRCm38)	critical splice donor site	probably null
IGL01504:Ctnnbl1	APN	2	157,818,116 (GRCm38)	splice site	probably benign
IGL01622:Ctnnbl1	APN	2	157,819,548 (GRCm38)	missense	probably damaging	1.00
IGL01623:Ctnnbl1	APN	2	157,819,548 (GRCm38)	missense	probably damaging	1.00
IGL02146:Ctnnbl1	APN	2	157,819,494 (GRCm38)	missense	probably damaging	1.00
IGL02550:Ctnnbl1	APN	2	157,884,135 (GRCm38)	missense	probably benign	0.00
IGL03104:Ctnnbl1	APN	2	157,890,965 (GRCm38)	missense	probably damaging	0.99
IGL03164:Ctnnbl1	APN	2	157,817,761 (GRCm38)	missense	probably benign
R0482:Ctnnbl1	UTSW	2	157,871,190 (GRCm38)	critical splice donor site	probably null
R0826:Ctnnbl1	UTSW	2	157,799,417 (GRCm38)	splice site	probably benign
R0827:Ctnnbl1	UTSW	2	157,799,417 (GRCm38)	splice site	probably benign
R0862:Ctnnbl1	UTSW	2	157,799,417 (GRCm38)	splice site	probably benign
R0863:Ctnnbl1	UTSW	2	157,799,417 (GRCm38)	splice site	probably benign
R0864:Ctnnbl1	UTSW	2	157,799,417 (GRCm38)	splice site	probably benign
R1466:Ctnnbl1	UTSW	2	157,799,417 (GRCm38)	splice site	probably benign
R1533:Ctnnbl1	UTSW	2	157,836,643 (GRCm38)	missense	probably benign
R2971:Ctnnbl1	UTSW	2	157,871,186 (GRCm38)	missense	probably benign	0.06
R4296:Ctnnbl1	UTSW	2	157,819,570 (GRCm38)	splice site	probably null
R4982:Ctnnbl1	UTSW	2	157,836,553 (GRCm38)	missense	probably benign	0.01
R5396:Ctnnbl1	UTSW	2	157,817,832 (GRCm38)	splice site	probably null
R5857:Ctnnbl1	UTSW	2	157,789,098 (GRCm38)	missense	probably damaging	1.00
R7710:Ctnnbl1	UTSW	2	157,774,571 (GRCm38)	missense	probably benign	0.00
R7769:Ctnnbl1	UTSW	2	157,737,470 (GRCm38)	start gained	probably benign
R8134:Ctnnbl1	UTSW	2	157,809,471 (GRCm38)	missense	probably benign	0.19
R8324:Ctnnbl1	UTSW	2	157,779,815 (GRCm38)	missense	probably damaging	0.97
R8384:Ctnnbl1	UTSW	2	157,818,060 (GRCm38)	missense	probably benign	0.01
R8430:Ctnnbl1	UTSW	2	157,836,683 (GRCm38)	missense	probably damaging	0.99
R9116:Ctnnbl1	UTSW	2	157,806,703 (GRCm38)	missense	probably damaging	1.00
R9244:Ctnnbl1	UTSW	2	157,836,663 (GRCm38)	missense	possibly damaging	0.63
R9350:Ctnnbl1	UTSW	2	157,809,525 (GRCm38)	missense	possibly damaging	0.91

Predicted Primers

PCR Primer
(F):5'- TCATCCCCATGTCAGAAGTGG -3'
(R):5'- AACCACTTGAAGGGTAGTTACAC -3'

Sequencing Primer
(F):5'- CCATGTCAGAAGTGGCGGTG -3'
(R):5'- TGACCTCTGTGGAAATGCAC -3'

Posted On

2015-02-18