Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01806:Cgnl1'

155667

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cgnl1

Ensembl Gene

ENSMUSG00000032232

Gene Name

cingulin-like 1

Synonyms

4933421H10Rik, Jacop, 9930020M10Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01806

Quality Score

Status

Chromosome

Chromosomal Location

71533791-71678884 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 71557604 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 976 (E976G)

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: E976G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000072672
Gene: ENSMUSG00000032232
AA Change: E976G

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

possibly damaging
Transcript: ENSMUST00000121322
AA Change: E905G

PolyPhen 2 Score 0.812 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000113917
Gene: ENSMUSG00000032232
AA Change: E905G

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: E976G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000112479
Gene: ENSMUSG00000032232
AA Change: E976G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146567

Coding Region Coverage

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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg1	T	C	8: 95,739,559 (GRCm39)	S670P	probably damaging	Het
Ap5m1	T	A	14: 49,317,797 (GRCm39)	F351L	probably damaging	Het
Cacnb2	A	G	2: 14,619,079 (GRCm39)	Y38C	probably damaging	Het
Ccdc28a	C	T	10: 18,095,262 (GRCm39)	A151T	possibly damaging	Het
Cyp2c39	A	G	19: 39,525,264 (GRCm39)	Y189C	probably damaging	Het
Dbt	T	C	3: 116,326,954 (GRCm39)	V101A	probably damaging	Het
Evc	A	G	5: 37,477,578 (GRCm39)		probably null	Het
Fastkd5	A	G	2: 130,457,532 (GRCm39)	Y353H	probably benign	Het
Gm6408	G	A	5: 146,418,892 (GRCm39)	R30H	probably damaging	Het
Lhx8	A	G	3: 154,027,992 (GRCm39)	S156P	probably damaging	Het
Mki67	T	C	7: 135,300,686 (GRCm39)	I1449M	probably damaging	Het
Mtrr	A	T	13: 68,728,719 (GRCm39)	V27E	possibly damaging	Het
Myh14	A	G	7: 44,307,363 (GRCm39)	V226A	probably benign	Het
Nek1	T	C	8: 61,577,246 (GRCm39)	S1076P	possibly damaging	Het
Or52z14	C	T	7: 103,253,548 (GRCm39)	A229V	probably benign	Het
Or6ae1	G	T	7: 139,742,841 (GRCm39)	N7K	probably benign	Het
Pcdhb7	A	G	18: 37,475,548 (GRCm39)	D228G	possibly damaging	Het
Pias3	T	C	3: 96,611,073 (GRCm39)	S414P	probably benign	Het
Plcd4	G	A	1: 74,591,192 (GRCm39)	V196I	probably benign	Het
Proca1	A	G	11: 78,095,737 (GRCm39)	D123G	probably damaging	Het
Ptpn3	A	G	4: 57,254,915 (GRCm39)		probably null	Het
Ptprq	C	A	10: 107,535,469 (GRCm39)	R432L	probably damaging	Het
Rasgrp4	A	G	7: 28,838,475 (GRCm39)	K108E	possibly damaging	Het
Siglecg	A	G	7: 43,060,888 (GRCm39)		probably null	Het
Srpra	A	G	9: 35,126,201 (GRCm39)	T465A	possibly damaging	Het
Tmpo	G	A	10: 90,999,104 (GRCm39)	R228C	probably benign	Het
Zeb1	G	A	18: 5,767,867 (GRCm39)	V793M	possibly 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
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
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

Posted On

2014-02-04