Mutagenetix > Incidental Mutation

Incidental Mutation 'R9116:Ctnnbl1'

692513

Institutional Source

Beutler Lab

Gene Symbol

Ctnnbl1

Ensembl Gene

ENSMUSG00000027649

Gene Name

catenin, beta like 1

Synonyms

NYD-SP19, 5730471K09Rik, P14L, FLJ21108

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.963) question?

Stock #

R9116 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

157579321-157733534 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 157648623 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 198 (V198E)

Ref Sequence

ENSEMBL: ENSMUSP00000029178 (fasta)

Gene Model

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

AlphaFold

Q9CWL8

Predicted Effect

probably damaging
Transcript: ENSMUST00000029178
AA Change: V198E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000029178
Gene: ENSMUSG00000027649
AA Change: V198E

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

100% (76/76)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	T	A	10: 79,838,973 (GRCm39)	L689Q		Het
Abcc2	G	A	19: 43,793,391 (GRCm39)	V348M	probably benign	Het
Abhd5	T	C	9: 122,196,992 (GRCm39)	S60P	probably benign	Het
Adamts10	C	A	17: 33,756,330 (GRCm39)	H324Q	probably benign	Het
Akap1	A	G	11: 88,723,165 (GRCm39)	L823P	probably damaging	Het
Aoc1	G	A	6: 48,885,522 (GRCm39)	V676I	probably damaging	Het
Arhgef12	T	C	9: 42,893,241 (GRCm39)		probably benign	Het
Arl4d	A	C	11: 101,557,620 (GRCm39)	S49R	possibly damaging	Het
Atr	A	G	9: 95,747,851 (GRCm39)	I378V	probably benign	Het
Bicd1	G	A	6: 149,385,674 (GRCm39)	V136I	probably benign	Het
Brd1	A	T	15: 88,585,374 (GRCm39)	L820H	possibly damaging	Het
Cfap70	T	C	14: 20,497,590 (GRCm39)	T55A	probably benign	Het
Cog7	G	T	7: 121,570,561 (GRCm39)	N182K	probably damaging	Het
Col4a4	T	A	1: 82,431,752 (GRCm39)	T1511S	unknown	Het
Cr2	A	T	1: 194,840,977 (GRCm39)	Y438*	probably null	Het
Fam117b	C	T	1: 60,018,456 (GRCm39)	Q58*	probably null	Het
Fam171a2	A	G	11: 102,330,519 (GRCm39)	Y288H	probably damaging	Het
Fam186a	A	T	15: 99,840,472 (GRCm39)	I1924K	possibly damaging	Het
Fancd2	A	G	6: 113,532,180 (GRCm39)	I498V	probably benign	Het
Fat3	T	A	9: 15,909,421 (GRCm39)	I2194F	probably benign	Het
Flg2	T	C	3: 93,109,591 (GRCm39)	S540P	unknown	Het
Gbp9	T	C	5: 105,231,695 (GRCm39)	Y297C		Het
Gck	T	G	11: 5,854,377 (GRCm39)	N283H	possibly damaging	Het
Gm13941	A	T	2: 110,935,146 (GRCm39)	L28Q	unknown	Het
Gpr155	A	G	2: 73,204,109 (GRCm39)	I235T	possibly damaging	Het
Junb	A	C	8: 85,704,052 (GRCm39)	L336R	probably damaging	Het
Krt14	A	T	11: 100,095,904 (GRCm39)	M218K	probably benign	Het
Leprotl1	A	G	8: 34,604,967 (GRCm39)	V102A	probably benign	Het
Lrrc8d	T	C	5: 105,961,908 (GRCm39)	F773L	probably damaging	Het
Mad2l1bp	G	A	17: 46,458,958 (GRCm39)	R191C	probably damaging	Het
Man1c1	C	T	4: 134,311,705 (GRCm39)	V274M	possibly damaging	Het
Mtor	C	A	4: 148,637,198 (GRCm39)	P2466T	probably benign	Het
Mycbpap	C	A	11: 94,398,032 (GRCm39)		probably benign	Het
Myef2l	G	A	3: 10,153,593 (GRCm39)	V121M	probably damaging	Het
Myo18b	T	C	5: 112,975,862 (GRCm39)	E1329G	probably damaging	Het
Nipbl	A	T	15: 8,380,340 (GRCm39)	D817E	probably benign	Het
Nthl1	C	T	17: 24,853,753 (GRCm39)	Q133*	probably null	Het
Nup133	A	G	8: 124,660,155 (GRCm39)	M381T	probably benign	Het
Or13c7	T	C	4: 43,854,602 (GRCm39)	C98R	probably damaging	Het
Or2j3	T	C	17: 38,615,654 (GRCm39)	T233A	probably benign	Het
Or51t4	T	C	7: 102,598,527 (GRCm39)	I285T	possibly damaging	Het
Or7e175	T	C	9: 20,048,633 (GRCm39)	Y74H	probably damaging	Het
Or7g20	T	C	9: 18,946,773 (GRCm39)	M118T	probably damaging	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Pmm1	C	T	15: 81,839,896 (GRCm39)	R143H	probably damaging	Het
Pmpcb	A	T	5: 21,961,608 (GRCm39)	I422F	probably damaging	Het
Prpf8	T	A	11: 75,380,589 (GRCm39)	H97Q	possibly damaging	Het
Psat1	A	G	19: 15,898,332 (GRCm39)	L30P	probably damaging	Het
Rag1	T	C	2: 101,472,820 (GRCm39)	D774G	probably damaging	Het
Rag1	C	T	2: 101,475,137 (GRCm39)	A2T	probably benign	Het
Rccd1	G	T	7: 79,970,728 (GRCm39)	F17L	probably damaging	Het
Rhobtb1	T	A	10: 69,106,579 (GRCm39)	D443E	probably damaging	Het
Rnf13	A	G	3: 57,709,866 (GRCm39)		probably null	Het
Ryr2	A	G	13: 11,587,185 (GRCm39)	S4699P	possibly damaging	Het
Scart1	A	G	7: 139,808,277 (GRCm39)	T754A	probably benign	Het
Sdc3	T	C	4: 130,546,352 (GRCm39)	V237A	probably benign	Het
Serinc5	T	A	13: 92,797,514 (GRCm39)		probably benign	Het
Sertad4	A	G	1: 192,528,973 (GRCm39)	I281T	probably benign	Het
Shroom1	T	C	11: 53,354,490 (GRCm39)	S137P	probably damaging	Het
Slurp1	C	T	15: 74,599,450 (GRCm39)	G20D	probably damaging	Het
Sncb	T	A	13: 54,910,512 (GRCm39)	N75Y	probably damaging	Het
Spag8	C	T	4: 43,653,231 (GRCm39)	G77S	unknown	Het
Spink14	A	T	18: 44,164,059 (GRCm39)	I76F	probably damaging	Het
Srfbp1	A	T	18: 52,623,102 (GRCm39)	E372D	possibly damaging	Het
Synpo	A	T	18: 60,735,599 (GRCm39)	N782K	probably damaging	Het
Syt7	T	C	19: 10,421,373 (GRCm39)	M519T	probably damaging	Het
Tlr5	C	T	1: 182,802,160 (GRCm39)	P488L	probably benign	Het
Tmod3	A	T	9: 75,412,202 (GRCm39)	I315N	probably damaging	Het
Ttc12	T	C	9: 49,364,757 (GRCm39)	M340V	probably benign	Het
Ttn	T	A	2: 76,710,959 (GRCm39)	I8392F	unknown	Het
Ttn	A	G	2: 76,769,232 (GRCm39)	V2822A	unknown	Het
Ube3b	C	T	5: 114,542,837 (GRCm39)		probably benign	Het
Ubr4	C	A	4: 139,145,785 (GRCm39)	N238K		Het
Vmn2r12	T	C	5: 109,233,885 (GRCm39)	T776A	probably damaging	Het
Vps50	G	A	6: 3,588,091 (GRCm39)		probably benign	Het
Vwa3a	A	G	7: 120,366,470 (GRCm39)	D165G		Het
Wdr17	T	A	8: 55,114,605 (GRCm39)	H644L	probably damaging	Het
Zfp628	T	C	7: 4,924,202 (GRCm39)	V808A	probably benign	Het
Zscan21	T	A	5: 138,123,937 (GRCm39)	D205E	probably damaging	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
IGL01622:Ctnnbl1	APN	2	157,661,468 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- GGTTAGGAAGCCATTAAGACCC -3'
(R):5'- TAGTTACATGAAATGCACACATGGG -3'

Sequencing Primer
(F):5'- CTCGGAGTGCCTTGAAGAG -3'
(R):5'- TGTTAATTGGTGCCAGCC -3'

Posted On

2021-12-30