Mutagenetix > Incidental Mutation

Incidental Mutation 'R8502:Cgnl1'

655371

Institutional Source

Beutler Lab

Gene Symbol

Cgnl1

Ensembl Gene

ENSMUSG00000032232

Gene Name

cingulin-like 1

Synonyms

4933421H10Rik, Jacop, 9930020M10Rik

MMRRC Submission

067839-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8502 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

71533791-71678884 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 71537887 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1211 (V1211A)

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: V1211A

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000072672
Gene: ENSMUSG00000032232
AA Change: V1211A

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 damaging
Transcript: ENSMUST00000121322
AA Change: V1140A

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000113917
Gene: ENSMUSG00000032232
AA Change: V1140A

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: V1211A

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000112479
Gene: ENSMUSG00000032232
AA Change: V1211A

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	C	A	11: 9,219,282 (GRCm39)	D405E	probably benign	Het
Abca6	T	A	11: 110,110,145 (GRCm39)	L599F	probably damaging	Het
Accs	T	C	2: 93,668,460 (GRCm39)	Y337C	probably damaging	Het
Ahrr	A	T	13: 74,431,193 (GRCm39)	Y10N	probably damaging	Het
Akap12	T	G	10: 4,263,856 (GRCm39)	D88E	probably benign	Het
Akr1c18	G	A	13: 4,192,188 (GRCm39)	R170C	probably benign	Het
Crlf2	T	C	5: 109,704,917 (GRCm39)	D98G	probably benign	Het
Cyp2c66	T	A	19: 39,130,773 (GRCm39)	M129K	probably benign	Het
Dennd4b	T	C	3: 90,181,165 (GRCm39)	W774R	probably damaging	Het
Dhx9	T	C	1: 153,335,210 (GRCm39)	M932V	probably benign	Het
Dnah7a	A	G	1: 53,679,520 (GRCm39)	S322P	probably benign	Het
Dst	A	G	1: 34,206,373 (GRCm39)	D907G	probably damaging	Het
Hrh1	A	G	6: 114,457,966 (GRCm39)	K416E	probably damaging	Het
Ints6	G	C	14: 62,998,028 (GRCm39)	T27R	possibly damaging	Het
Krt10	C	T	11: 99,278,359 (GRCm39)	E267K	probably damaging	Het
Lama5	T	C	2: 179,837,015 (GRCm39)	N1074S	probably damaging	Het
Lrp2	C	T	2: 69,344,585 (GRCm39)	W844*	probably null	Het
N4bp2l2	T	G	5: 150,585,821 (GRCm39)	N53T	probably benign	Het
Naip6	C	T	13: 100,436,784 (GRCm39)	A580T	possibly damaging	Het
Nap1l1	T	A	10: 111,317,162 (GRCm39)	M1K	probably null	Het
Nbeal2	C	T	9: 110,463,457 (GRCm39)	S1258N	possibly damaging	Het
Or52a5	T	C	7: 103,426,968 (GRCm39)	I195V	probably benign	Het
Osgin2	A	T	4: 16,005,493 (GRCm39)	V131D	probably damaging	Het
Pced1a	T	C	2: 130,265,577 (GRCm39)		probably benign	Het
Phf8-ps	C	A	17: 33,286,038 (GRCm39)	A255S	probably benign	Het
Prdm2	T	C	4: 142,861,584 (GRCm39)	I569V	probably damaging	Het
Prss42	T	C	9: 110,629,984 (GRCm39)	L246P	probably damaging	Het
Ptpra	C	A	2: 130,391,679 (GRCm39)	D732E	probably damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,121 (GRCm39)		probably benign	Het
Rspo3	T	C	10: 29,375,970 (GRCm39)	T198A	probably benign	Het
Slc45a2	T	C	15: 11,027,958 (GRCm39)	I509T	possibly damaging	Het
Spag7	T	C	11: 70,560,059 (GRCm39)	S17G	probably benign	Het
Tcl1b2	T	A	12: 105,113,367 (GRCm39)	Y7N	probably benign	Het
Tmem198	G	T	1: 75,459,353 (GRCm39)	G103W	probably damaging	Het
Trim62	A	G	4: 128,803,233 (GRCm39)	I428V	probably benign	Het
Usp7	A	T	16: 8,512,893 (GRCm39)		probably null	Het
Zan	T	A	5: 137,471,845 (GRCm39)	T191S	probably damaging	Het
Zfat	T	C	15: 67,976,916 (GRCm39)	T1078A	probably benign	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
R0401:Cgnl1	UTSW	9	71,612,521 (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
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'- ATTGAACAGGTTGGGTGACG -3'
(R):5'- GTTCCACTCACCCTACAGATG -3'

Sequencing Primer
(F):5'- TTTCACCTCAAGAACGGGATG -3'
(R):5'- ACTCACCCTACAGATGTTCTTG -3'

Posted On

2020-10-20