Mutagenetix > Incidental Mutation

Incidental Mutation 'R8324:Ctnnbl1'

643969

Institutional Source

Beutler Lab

Gene Symbol

Ctnnbl1

Ensembl Gene

ENSMUSG00000027649

Gene Name

catenin, beta like 1

Synonyms

P14L, FLJ21108, NYD-SP19, 5730471K09Rik

MMRRC Submission

067725-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.964) question?

Stock #

R8324 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

157737401-157891614 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 157779815 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 75 (E75K)

Ref Sequence

ENSEMBL: ENSMUSP00000029178 (fasta)

Gene Model

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

AlphaFold

Q9CWL8

Predicted Effect

probably damaging
Transcript: ENSMUST00000029178
AA Change: E75K

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000029178
Gene: ENSMUSG00000027649
AA Change: E75K

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,290,395 (GRCm38)	S753P	probably damaging	Het
Acan	A	G	7: 79,091,056 (GRCm38)	E390G	probably damaging	Het
Antxr2	T	C	5: 97,938,509 (GRCm38)	N413S	probably damaging	Het
Bace2	C	T	16: 97,356,908 (GRCm38)	A36V	possibly damaging	Het
Caprin1	G	A	2: 103,783,181 (GRCm38)	R79*	probably null	Het
Cdan1	A	G	2: 120,727,325 (GRCm38)	V507A	probably benign	Het
Cdkl3	T	A	11: 52,022,879 (GRCm38)		probably null	Het
Chst5	A	T	8: 111,890,508 (GRCm38)	L160Q	probably benign	Het
Col11a1	C	G	3: 114,164,410 (GRCm38)	P1111R	probably damaging	Het
Col6a6	T	A	9: 105,755,654 (GRCm38)	E1470D	probably benign	Het
Cpped1	T	A	16: 11,805,476 (GRCm38)	T274S	probably benign	Het
Cyp4f40	T	C	17: 32,659,528 (GRCm38)	S15P	probably benign	Het
Ddx46	T	C	13: 55,663,914 (GRCm38)	S643P	probably damaging	Het
Defb34	A	G	8: 19,123,798 (GRCm38)	Q16R	probably null	Het
Dhrs2	T	A	14: 55,238,764 (GRCm38)	V147E	probably damaging	Het
Dnah5	G	T	15: 28,346,865 (GRCm38)	R2498L	probably damaging	Het
Dpp10	T	A	1: 123,854,172 (GRCm38)	I93F	probably benign	Het
Eef1e1	T	A	13: 38,655,069 (GRCm38)	D104V	probably damaging	Het
Egfr	A	C	11: 16,908,885 (GRCm38)	I955L	probably damaging	Het
Egfr	A	G	11: 16,858,971 (GRCm38)	Y55C	probably damaging	Het
Ehbp1l1	C	A	19: 5,719,998 (GRCm38)	V426F	possibly damaging	Het
Fam234a	C	T	17: 26,218,698 (GRCm38)	V108I	probably benign	Het
Fzd8	T	A	18: 9,214,688 (GRCm38)	M590K	probably damaging	Het
Gm13287	T	C	4: 88,803,638 (GRCm38)	S129P	probably damaging	Het
Heatr5b	A	G	17: 78,755,364 (GRCm38)	S1919P	possibly damaging	Het
Hspg2	C	G	4: 137,518,979 (GRCm38)	P1023A	possibly damaging	Het
Ikbkap	C	T	4: 56,772,491 (GRCm38)	E877K	probably damaging	Het
Itpr2	T	C	6: 146,328,398 (GRCm38)	E1233G	probably damaging	Het
Kcnmb4	A	G	10: 116,418,314 (GRCm38)	L186P	probably damaging	Het
Krt72	T	A	15: 101,782,145 (GRCm38)	Y224F	probably damaging	Het
Loxhd1	T	C	18: 77,339,579 (GRCm38)		probably null	Het
Lrguk	A	G	6: 34,102,571 (GRCm38)	T914A	probably benign	Het
Lrrtm4	A	G	6: 80,021,991 (GRCm38)	T129A	probably damaging	Het
Mmp13	A	T	9: 7,276,636 (GRCm38)	I244F	possibly damaging	Het
Mob1a	T	A	6: 83,329,974 (GRCm38)	L41Q	probably damaging	Het
Mtcl1	T	C	17: 66,436,217 (GRCm38)	R426G	probably damaging	Het
Mybbp1a	T	C	11: 72,445,288 (GRCm38)		probably null	Het
Myh9	A	G	15: 77,788,917 (GRCm38)		probably null	Het
Myo1d	T	A	11: 80,557,521 (GRCm38)	D926V	probably damaging	Het
Ncapg	T	G	5: 45,695,668 (GRCm38)	H825Q	probably damaging	Het
Olfml1	T	C	7: 107,590,363 (GRCm38)	S212P	probably benign	Het
Olfr656	G	A	7: 104,618,114 (GRCm38)	R145H	probably benign	Het
Pak2	T	C	16: 32,052,211 (GRCm38)	N51S	probably benign	Het
Papln	T	C	12: 83,786,619 (GRCm38)	Y1132H	probably damaging	Het
Pax3	T	A	1: 78,193,789 (GRCm38)	R134S	probably damaging	Het
Pdzrn4	A	G	15: 92,770,937 (GRCm38)	E990G	probably damaging	Het
Peak1	A	T	9: 56,207,476 (GRCm38)	W1394R	probably damaging	Het
Pkn2	T	C	3: 142,829,010 (GRCm38)	N285D	probably benign	Het
Pramef12	A	C	4: 144,395,857 (GRCm38)	L39R	probably damaging	Het
Prrc2a	A	G	17: 35,156,984 (GRCm38)	S897P	possibly damaging	Het
Rad51	A	G	2: 119,123,831 (GRCm38)	T131A	possibly damaging	Het
Rc3h2	T	A	2: 37,400,726 (GRCm38)	T255S	possibly damaging	Het
Repin1	G	T	6: 48,597,345 (GRCm38)	E403*	probably null	Het
Rictor	T	A	15: 6,745,562 (GRCm38)	V125E	probably damaging	Het
Rps6ka5	C	T	12: 100,558,487 (GRCm38)	D664N	possibly damaging	Het
Rreb1	T	A	13: 37,947,621 (GRCm38)	W1584R	probably damaging	Het
Rxra	T	C	2: 27,741,183 (GRCm38)	I142T	probably damaging	Het
Sall2	T	C	14: 52,312,886 (GRCm38)	T951A	probably benign	Het
Slc15a2	T	G	16: 36,759,307 (GRCm38)	N359T	probably damaging	Het
Slc23a1	C	T	18: 35,622,535 (GRCm38)	G436E	probably damaging	Het
Slc6a13	T	C	6: 121,337,414 (GRCm38)	*603Q	probably null	Het
Sptb	T	C	12: 76,619,162 (GRCm38)	D894G	possibly damaging	Het
Srgn	A	G	10: 62,507,665 (GRCm38)	L17P	probably damaging	Het
Tmprss9	T	C	10: 80,897,371 (GRCm38)		probably null	Het
Trav9n-4	T	C	14: 53,294,946 (GRCm38)	F86L	probably benign	Het
Trp63	A	G	16: 25,876,734 (GRCm38)	Y482C	unknown	Het
Ttc9b	G	T	7: 27,653,969 (GRCm38)	A15S	probably damaging	Het
Urb1	A	T	16: 90,791,190 (GRCm38)	I410N	probably damaging	Het
Vmn2r82	A	T	10: 79,378,893 (GRCm38)	K237*	probably null	Het
Wwox	G	A	8: 114,489,005 (GRCm38)		probably null	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
R3522:Ctnnbl1	UTSW	2	157,871,193 (GRCm38)	splice site	probably null
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
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'- GGGCATTTGACATGACACCC -3'
(R):5'- AGTGGCATCCCAAGCATGTG -3'

Sequencing Primer
(F):5'- ACACCCAGGACGATGCTTCTTG -3'
(R):5'- ACACTGGGATGCCTGACCAAG -3'

Posted On

2020-09-02