Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01128:Cgnl1'

51971

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 #

IGL01128

Quality Score

Status

Chromosome

Chromosomal Location

71533791-71678884 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 71631843 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 503 (Q503K)

Ref Sequence

ENSEMBL: ENSMUSP00000113917 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000072899
AA Change: Q503K

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000072672
Gene: ENSMUSG00000032232
AA Change: Q503K

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: Q503K

PolyPhen 2 Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000113917
Gene: ENSMUSG00000032232
AA Change: Q503K

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 benign
Transcript: ENSMUST00000122065
AA Change: Q503K

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000112479
Gene: ENSMUSG00000032232
AA Change: Q503K

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

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110038F14Rik	G	A	15: 76,834,475 (GRCm39)	V124I	probably damaging	Het
Adgrf5	G	T	17: 43,733,400 (GRCm39)	D75Y	possibly damaging	Het
Aen	G	A	7: 78,557,050 (GRCm39)	M299I	probably damaging	Het
Ahi1	A	G	10: 20,950,332 (GRCm39)	T128A	probably benign	Het
Bves	T	A	10: 45,229,944 (GRCm39)	F249L	probably damaging	Het
Capns1	T	C	7: 29,889,558 (GRCm39)	I214V	probably benign	Het
Ep300	A	G	15: 81,514,207 (GRCm39)		probably benign	Het
Fam117b	T	A	1: 60,008,177 (GRCm39)	F337Y	probably damaging	Het
Fam178b	A	T	1: 36,683,435 (GRCm39)	V95E	probably damaging	Het
Gak	T	A	5: 108,740,236 (GRCm39)	M560L	probably damaging	Het
Gna11	C	A	10: 81,366,718 (GRCm39)	A331S	probably damaging	Het
Gtf3c3	A	C	1: 54,468,035 (GRCm39)	F201V	possibly damaging	Het
Kat6b	G	A	14: 21,710,928 (GRCm39)	R734H	probably benign	Het
Lag3	T	C	6: 124,886,380 (GRCm39)	D191G	probably damaging	Het
Mttp	T	A	3: 137,839,758 (GRCm39)		probably null	Het
Nlgn3	A	T	X: 100,363,698 (GRCm39)	T790S	probably benign	Het
Or11g27	A	G	14: 50,771,406 (GRCm39)	D179G	probably damaging	Het
Or5b123	G	A	19: 13,597,110 (GRCm39)	E195K	probably damaging	Het
Pkd2l2	T	A	18: 34,550,068 (GRCm39)	Y238N	probably damaging	Het
Plg	A	T	17: 12,615,586 (GRCm39)		probably benign	Het
Ptprm	A	T	17: 67,349,096 (GRCm39)	C376S	probably damaging	Het
Rexo1	T	C	10: 80,385,573 (GRCm39)	D495G	probably benign	Het
Rims1	A	T	1: 22,573,256 (GRCm39)	V315D	probably damaging	Het
Ros1	G	A	10: 52,018,424 (GRCm39)	Q745*	probably null	Het
Satb1	A	G	17: 52,112,317 (GRCm39)	V99A	probably damaging	Het
Sema3e	C	T	5: 14,282,129 (GRCm39)	P422S	probably damaging	Het
Stkld1	G	T	2: 26,841,483 (GRCm39)	W476L	probably benign	Het
Syna	T	C	5: 134,588,334 (GRCm39)	D205G	probably damaging	Het
Tas2r134	G	T	2: 51,517,671 (GRCm39)	C50F	probably damaging	Het
Togaram1	A	G	12: 65,027,650 (GRCm39)	T880A	probably benign	Het
Uckl1	T	C	2: 181,212,130 (GRCm39)	E363G	probably damaging	Het
Yeats2	T	A	16: 19,980,718 (GRCm39)		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
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
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

2013-06-21