Mutagenetix > Incidental Mutation

Incidental Mutation 'R0401:Cgnl1'

38225

Institutional Source

Beutler Lab

Gene Symbol

Cgnl1

Ensembl Gene

ENSMUSG00000032232

Gene Name

cingulin-like 1

Synonyms

4933421H10Rik, Jacop, 9930020M10Rik

MMRRC Submission

038606-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0401 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

71533791-71678884 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 71612521 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 767 (V767A)

Ref Sequence

ENSEMBL: ENSMUSP00000112479 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072899] [ENSMUST00000121322] [ENSMUST00000122065]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000072899
AA Change: V767A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000072672
Gene: ENSMUSG00000032232
AA Change: V767A

Domain	Start	End	E-Value	Type
low complexity region	292	309	N/A	INTRINSIC
low complexity region	539	550	N/A	INTRINSIC
low complexity region	615	634	N/A	INTRINSIC
low complexity region	638	653	N/A	INTRINSIC
low complexity region	728	739	N/A	INTRINSIC
Pfam:Myosin_tail_1	984	1255	5.4e-30	PFAM
low complexity region	1258	1278	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000121322

SMART Domains

Protein: ENSMUSP00000113917
Gene: ENSMUSG00000032232

Domain	Start	End	E-Value	Type
low complexity region	292	309	N/A	INTRINSIC
low complexity region	539	550	N/A	INTRINSIC
low complexity region	615	634	N/A	INTRINSIC
low complexity region	638	653	N/A	INTRINSIC
Pfam:Myosin_tail_1	909	1184	2.3e-30	PFAM
low complexity region	1187	1207	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000122065
AA Change: V767A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000112479
Gene: ENSMUSG00000032232
AA Change: V767A

Domain	Start	End	E-Value	Type
low complexity region	292	309	N/A	INTRINSIC
low complexity region	539	550	N/A	INTRINSIC
Pfam:Myosin_tail_1	582	1034	1.3e-12	PFAM
Pfam:Myosin_tail_1	1011	1253	7.7e-38	PFAM
low complexity region	1258	1278	N/A	INTRINSIC

Meta Mutation Damage Score

0.0739

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.6%

Validation Efficiency

98% (90/92)

MGI Phenotype

FUNCTION: This gene encodes a protein localized to the tight junctions and adherens junctions in vertebrate epithelial cells. The encoded protein regulates the activity of Rho family GTPases during junction assembly and at confluence. At the adherens junctions, the encoded protein is part of a protein complex that links E-cadherin to the microtubule cytoskeleton. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2015]

Allele List at MGI

Other mutations in this stock

Total: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	T	3: 137,776,067 (GRCm39)	H1752L	possibly damaging	Het
Abcc5	T	C	16: 20,195,308 (GRCm39)	K730E	probably benign	Het
Ahnak	A	G	19: 8,992,480 (GRCm39)	D4588G	probably benign	Het
AI467606	G	A	7: 126,691,608 (GRCm39)	R61H	probably damaging	Het
Apoa4	T	A	9: 46,154,356 (GRCm39)	V319E	probably damaging	Het
Ark2n	C	A	18: 77,761,658 (GRCm39)	S218I	probably damaging	Het
Atad5	T	A	11: 80,011,525 (GRCm39)	D1297E	probably benign	Het
BC005624	G	A	2: 30,870,021 (GRCm39)	T62I	probably benign	Het
Bcl6	T	C	16: 23,791,344 (GRCm39)	K337E	probably damaging	Het
Cad	T	A	5: 31,231,330 (GRCm39)		probably benign	Het
Ccdc73	T	C	2: 104,821,634 (GRCm39)	S528P	probably benign	Het
Ccng2	T	G	5: 93,421,272 (GRCm39)	C261G	possibly damaging	Het
Cdh11	A	T	8: 103,400,638 (GRCm39)	I110N	probably damaging	Het
Cit	A	G	5: 116,123,538 (GRCm39)	T1460A	probably benign	Het
Clec4b2	C	T	6: 123,158,259 (GRCm39)	Q42*	probably null	Het
Clip1	A	G	5: 123,791,852 (GRCm39)	V106A	probably damaging	Het
Crb1	T	C	1: 139,126,529 (GRCm39)		probably benign	Het
Cts6	T	C	13: 61,346,153 (GRCm39)		probably benign	Het
Cul9	T	C	17: 46,852,630 (GRCm39)	E244G	probably damaging	Het
Dcaf8l	C	A	X: 88,448,815 (GRCm39)	R438L	probably benign	Het
Ddx55	A	T	5: 124,706,014 (GRCm39)	I480F	probably damaging	Het
Dixdc1	A	G	9: 50,604,974 (GRCm39)	S17P	possibly damaging	Het
Drosha	T	A	15: 12,926,117 (GRCm39)	Y1235*	probably null	Het
Dsg2	G	T	18: 20,725,565 (GRCm39)		probably benign	Het
E2f5	T	C	3: 14,644,085 (GRCm39)		probably null	Het
Epc2	A	G	2: 49,418,986 (GRCm39)	T265A	probably damaging	Het
Etaa1	T	G	11: 17,897,514 (GRCm39)	D201A	probably damaging	Het
Fancd2	T	C	6: 113,525,304 (GRCm39)	I260T	possibly damaging	Het
Fhdc1	G	A	3: 84,351,931 (GRCm39)	A1098V	probably benign	Het
Gpd2	G	A	2: 57,230,105 (GRCm39)	V286I	possibly damaging	Het
Gpr141b	A	T	13: 19,913,664 (GRCm39)		noncoding transcript	Het
H2-T9	C	T	17: 36,439,597 (GRCm39)	V128M	probably damaging	Het
Herc2	A	C	7: 55,807,480 (GRCm39)	E2523A	probably damaging	Het
Irag1	G	A	7: 110,476,104 (GRCm39)	P757S	probably benign	Het
Jmjd1c	G	A	10: 67,056,161 (GRCm39)	R527H	probably damaging	Het
Kif12	G	A	4: 63,087,762 (GRCm39)		probably benign	Het
Lrp2	A	T	2: 69,309,492 (GRCm39)	N2802K	probably damaging	Het
Mab21l2	C	G	3: 86,454,296 (GRCm39)	G235R	probably benign	Het
Mapk8	T	C	14: 33,104,165 (GRCm39)	E417G	probably benign	Het
Mapk8ip3	G	A	17: 25,128,145 (GRCm39)		probably benign	Het
Mettl1	A	G	10: 126,880,946 (GRCm39)	T203A	probably benign	Het
Mettl9	T	C	7: 120,675,536 (GRCm39)	V312A	probably damaging	Het
Mex3d	A	G	10: 80,222,728 (GRCm39)	V176A	probably benign	Het
Mmp3	T	C	9: 7,449,790 (GRCm39)	S225P	probably damaging	Het
Neb	G	A	2: 52,078,689 (GRCm39)		probably benign	Het
Ninj2	C	T	6: 120,175,012 (GRCm39)	A51V	possibly damaging	Het
Nle1	A	G	11: 82,796,205 (GRCm39)		probably benign	Het
Nol9	T	C	4: 152,137,062 (GRCm39)	Y532H	probably benign	Het
Nr2c1	T	A	10: 94,007,020 (GRCm39)	V286E	probably benign	Het
Or4b1b	A	T	2: 90,112,748 (GRCm39)	M57K	probably damaging	Het
Or4c31	T	G	2: 88,292,269 (GRCm39)	L195R	probably damaging	Het
Or52e18	T	A	7: 104,609,150 (GRCm39)	H263L	probably damaging	Het
Or5p4	T	A	7: 107,680,079 (GRCm39)	I26N	possibly damaging	Het
Or6c69	A	G	10: 129,747,785 (GRCm39)	Y121H	probably benign	Het
Or6f1	T	C	7: 85,970,500 (GRCm39)	Y220C	probably benign	Het
Or9k7	A	G	10: 130,046,489 (GRCm39)	L170P	probably damaging	Het
Ovch2	A	T	7: 107,400,343 (GRCm39)	V15D	probably damaging	Het
Pate8	G	T	9: 36,493,924 (GRCm39)	A3E	unknown	Het
Pclo	T	G	5: 14,731,748 (GRCm39)	S3417A	unknown	Het
Pex1	T	A	5: 3,683,759 (GRCm39)	M1085K	probably damaging	Het
Plscr2	T	C	9: 92,164,188 (GRCm39)	S6P	probably benign	Het
Pogz	C	T	3: 94,784,336 (GRCm39)	P722S	possibly damaging	Het
Pom121l2	A	T	13: 22,166,395 (GRCm39)	D222V	probably benign	Het
Prpf40a	T	C	2: 53,049,325 (GRCm39)	Y179C	probably damaging	Het
R3hdm2	A	G	10: 127,294,042 (GRCm39)	I179V	possibly damaging	Het
Ranbp9	A	C	13: 43,576,134 (GRCm39)	V355G	probably damaging	Het
Rims2	T	C	15: 39,373,028 (GRCm39)		probably benign	Het
Ryr2	A	T	13: 11,720,570 (GRCm39)	S2693T	probably benign	Het
Sbno1	G	A	5: 124,548,348 (GRCm39)	T111I	probably damaging	Het
Sdk1	A	C	5: 142,031,916 (GRCm39)	N997T	possibly damaging	Het
Setx	G	T	2: 29,056,301 (GRCm39)	E39*	probably null	Het
Skint7	T	A	4: 111,837,559 (GRCm39)	N112K	probably damaging	Het
Slc35e1	T	C	8: 73,246,415 (GRCm39)		probably benign	Het
Slc4a10	A	T	2: 62,021,192 (GRCm39)	D80V	probably benign	Het
Susd2	C	A	10: 75,474,437 (GRCm39)		probably benign	Het
Tcam1	G	A	11: 106,174,904 (GRCm39)	E120K	probably benign	Het
Tcf3	G	T	10: 80,256,992 (GRCm39)	S77R	probably damaging	Het
Tdpoz3	T	C	3: 93,733,672 (GRCm39)	Y116H	probably benign	Het
Tex26	C	A	5: 149,384,323 (GRCm39)	D164E	probably benign	Het
Thoc5	G	A	11: 4,852,213 (GRCm39)		probably benign	Het
Tiparp	A	G	3: 65,438,857 (GRCm39)	R58G	probably benign	Het
Trim66	A	T	7: 109,074,471 (GRCm39)	C597S	probably damaging	Het
Ugt2a3	T	A	5: 87,484,349 (GRCm39)	Q225L	probably benign	Het
Vmn1r25	T	A	6: 57,955,696 (GRCm39)	I198L	probably benign	Het
Vmn2r106	A	T	17: 20,499,281 (GRCm39)	V210D	possibly damaging	Het
Vmn2r124	T	C	17: 18,284,407 (GRCm39)	F483L	probably damaging	Het
Vmn2r78	A	G	7: 86,570,519 (GRCm39)	K346E	probably benign	Het
Zfhx4	T	A	3: 5,466,221 (GRCm39)	S2126R	possibly damaging	Het
Zfp608	C	T	18: 55,032,066 (GRCm39)	G625R	probably benign	Het
Zkscan5	A	G	5: 145,149,385 (GRCm39)	D234G	probably damaging	Het
Zscan10	T	A	17: 23,824,889 (GRCm39)	V115E	probably damaging	Het

Other mutations in Cgnl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00556:Cgnl1	APN	9	71,563,338 (GRCm39)	missense	probably benign	0.00
IGL01128:Cgnl1	APN	9	71,631,843 (GRCm39)	missense	possibly damaging	0.81
IGL01450:Cgnl1	APN	9	71,539,144 (GRCm39)	splice site	probably benign
IGL01788:Cgnl1	APN	9	71,562,672 (GRCm39)	missense	probably benign
IGL01806:Cgnl1	APN	9	71,557,604 (GRCm39)	missense	probably damaging	0.99
IGL01906:Cgnl1	APN	9	71,631,849 (GRCm39)	missense	probably benign	0.00
IGL01933:Cgnl1	APN	9	71,552,765 (GRCm39)	splice site	probably benign
IGL01939:Cgnl1	APN	9	71,632,286 (GRCm39)	missense	probably damaging	1.00
IGL01947:Cgnl1	APN	9	71,632,326 (GRCm39)	missense	probably damaging	0.99
IGL02127:Cgnl1	APN	9	71,633,135 (GRCm39)	missense	probably damaging	1.00
IGL02379:Cgnl1	APN	9	71,552,835 (GRCm39)	missense	possibly damaging	0.82
IGL02510:Cgnl1	APN	9	71,632,639 (GRCm39)	missense	probably benign	0.41
FR4548:Cgnl1	UTSW	9	71,631,999 (GRCm39)	small insertion	probably benign
R0058:Cgnl1	UTSW	9	71,632,122 (GRCm39)	missense	probably damaging	0.99
R0058:Cgnl1	UTSW	9	71,548,679 (GRCm39)	missense	probably damaging	1.00
R0105:Cgnl1	UTSW	9	71,563,384 (GRCm39)	missense	probably benign
R0220:Cgnl1	UTSW	9	71,632,225 (GRCm39)	missense	possibly damaging	0.68
R0242:Cgnl1	UTSW	9	71,628,939 (GRCm39)	missense	probably damaging	1.00
R0541:Cgnl1	UTSW	9	71,558,535 (GRCm39)	missense	possibly damaging	0.54
R1018:Cgnl1	UTSW	9	71,633,340 (GRCm39)	missense	probably damaging	1.00
R1026:Cgnl1	UTSW	9	71,624,713 (GRCm39)	missense	possibly damaging	0.91
R1056:Cgnl1	UTSW	9	71,633,177 (GRCm39)	missense	probably damaging	1.00
R1299:Cgnl1	UTSW	9	71,628,994 (GRCm39)	splice site	probably benign
R1513:Cgnl1	UTSW	9	71,631,872 (GRCm39)	missense	probably benign	0.02
R1546:Cgnl1	UTSW	9	71,633,097 (GRCm39)	missense	probably benign
R1599:Cgnl1	UTSW	9	71,548,709 (GRCm39)	missense	probably benign	0.02
R1657:Cgnl1	UTSW	9	71,633,226 (GRCm39)	missense	probably damaging	0.98
R1970:Cgnl1	UTSW	9	71,632,817 (GRCm39)	missense	probably benign	0.10
R2004:Cgnl1	UTSW	9	71,537,821 (GRCm39)	missense	probably damaging	1.00
R2080:Cgnl1	UTSW	9	71,563,378 (GRCm39)	missense	probably benign	0.01
R2085:Cgnl1	UTSW	9	71,538,160 (GRCm39)	missense	probably damaging	1.00
R2357:Cgnl1	UTSW	9	71,632,950 (GRCm39)	nonsense	probably null
R2402:Cgnl1	UTSW	9	71,632,461 (GRCm39)	missense	probably damaging	1.00
R3954:Cgnl1	UTSW	9	71,631,945 (GRCm39)	missense	probably benign	0.01
R4043:Cgnl1	UTSW	9	71,612,575 (GRCm39)	missense	probably damaging	1.00
R4127:Cgnl1	UTSW	9	71,631,822 (GRCm39)	missense	probably benign	0.00
R4825:Cgnl1	UTSW	9	71,537,806 (GRCm39)	missense	probably benign	0.00
R4851:Cgnl1	UTSW	9	71,632,314 (GRCm39)	missense	probably damaging	1.00
R4882:Cgnl1	UTSW	9	71,624,683 (GRCm39)	missense	probably benign	0.00
R4996:Cgnl1	UTSW	9	71,632,108 (GRCm39)	small deletion	probably benign
R5057:Cgnl1	UTSW	9	71,632,076 (GRCm39)	missense	probably damaging	0.99
R5263:Cgnl1	UTSW	9	71,539,936 (GRCm39)	nonsense	probably null
R5402:Cgnl1	UTSW	9	71,536,603 (GRCm39)	missense	probably damaging	1.00
R5744:Cgnl1	UTSW	9	71,537,957 (GRCm39)	splice site	probably null
R5770:Cgnl1	UTSW	9	71,552,769 (GRCm39)	splice site	probably null
R6911:Cgnl1	UTSW	9	71,563,497 (GRCm39)	missense	possibly damaging	0.82
R7014:Cgnl1	UTSW	9	71,632,416 (GRCm39)	missense	possibly damaging	0.86
R7106:Cgnl1	UTSW	9	71,633,015 (GRCm39)	missense	probably benign	0.00
R7203:Cgnl1	UTSW	9	71,631,815 (GRCm39)	missense	possibly damaging	0.80
R7231:Cgnl1	UTSW	9	71,539,927 (GRCm39)	missense	probably benign	0.39
R7241:Cgnl1	UTSW	9	71,632,052 (GRCm39)	missense	probably benign
R7288:Cgnl1	UTSW	9	71,632,846 (GRCm39)	missense	possibly damaging	0.67
R7327:Cgnl1	UTSW	9	71,633,165 (GRCm39)	missense	possibly damaging	0.48
R7390:Cgnl1	UTSW	9	71,552,931 (GRCm39)	missense	probably benign	0.04
R7529:Cgnl1	UTSW	9	71,539,040 (GRCm39)	missense	probably damaging	1.00
R7793:Cgnl1	UTSW	9	71,632,917 (GRCm39)	missense	probably damaging	1.00
R7975:Cgnl1	UTSW	9	71,632,604 (GRCm39)	missense	probably benign	0.00
R7990:Cgnl1	UTSW	9	71,632,547 (GRCm39)	missense	probably damaging	1.00
R8502:Cgnl1	UTSW	9	71,537,887 (GRCm39)	missense	probably damaging	0.99
R8926:Cgnl1	UTSW	9	71,632,535 (GRCm39)	missense	probably benign
R9010:Cgnl1	UTSW	9	71,558,631 (GRCm39)	missense	probably damaging	1.00
R9106:Cgnl1	UTSW	9	71,628,873 (GRCm39)	splice site	probably benign
R9189:Cgnl1	UTSW	9	71,630,847 (GRCm39)	nonsense	probably null
R9395:Cgnl1	UTSW	9	71,539,954 (GRCm39)	missense	probably benign	0.01
R9680:Cgnl1	UTSW	9	71,562,632 (GRCm39)	missense	possibly damaging	0.65
R9694:Cgnl1	UTSW	9	71,632,803 (GRCm39)	missense	probably benign	0.32
R9760:Cgnl1	UTSW	9	71,552,853 (GRCm39)	nonsense	probably null
RF015:Cgnl1	UTSW	9	71,631,997 (GRCm39)	small insertion	probably benign
RF042:Cgnl1	UTSW	9	71,631,997 (GRCm39)	small insertion	probably benign

Predicted Primers

PCR Primer
(F):5'- TGCAGAAGCTGAGTCCATTCAACG -3'
(R):5'- GCAATGCTGGCTACTGGCAAGATAC -3'

Sequencing Primer
(F):5'- AGCTCAGTCATCAACGTGTC -3'
(R):5'- GGCAAGATACCTGTCCTTCAG -3'

Posted On

2013-05-23