Mutagenetix > Incidental Mutation

Incidental Mutation 'R4714:Cgn'

353424

Institutional Source

Beutler Lab

Gene Symbol

Cgn

Ensembl Gene

ENSMUSG00000068876

Gene Name

cingulin

Synonyms

6330408J11Rik

MMRRC Submission

041956-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4714 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

94760069-94786492 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 94779438 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Tryptophan at position 185 (G185W)

Ref Sequence

ENSEMBL: ENSMUSP00000142809 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000107272] [ENSMUST00000107273] [ENSMUST00000153263] [ENSMUST00000155485]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000107272
AA Change: G185W

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000102893
Gene: ENSMUSG00000068876
AA Change: G185W

Domain	Start	End	E-Value	Type
low complexity region	31	43	N/A	INTRINSIC
low complexity region	189	198	N/A	INTRINSIC
internal_repeat_1	214	229	8.06e-5	PROSPERO
low complexity region	242	260	N/A	INTRINSIC
internal_repeat_1	287	302	8.06e-5	PROSPERO
low complexity region	446	462	N/A	INTRINSIC
low complexity region	466	481	N/A	INTRINSIC
low complexity region	536	549	N/A	INTRINSIC
low complexity region	567	592	N/A	INTRINSIC
low complexity region	660	676	N/A	INTRINSIC
low complexity region	758	775	N/A	INTRINSIC
Pfam:Myosin_tail_1	783	1140	3.4e-31	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000107273
AA Change: G185W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000102894
Gene: ENSMUSG00000068876
AA Change: G185W

Domain	Start	End	E-Value	Type
low complexity region	31	43	N/A	INTRINSIC
low complexity region	189	198	N/A	INTRINSIC
internal_repeat_1	214	229	8.83e-5	PROSPERO
low complexity region	242	260	N/A	INTRINSIC
internal_repeat_1	287	302	8.83e-5	PROSPERO
low complexity region	454	470	N/A	INTRINSIC
low complexity region	474	489	N/A	INTRINSIC
low complexity region	544	557	N/A	INTRINSIC
low complexity region	575	600	N/A	INTRINSIC
low complexity region	668	684	N/A	INTRINSIC
low complexity region	766	783	N/A	INTRINSIC
Pfam:Myosin_tail_1	799	1144	2.2e-37	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000153263
AA Change: G185W

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

SMART Domains

Protein: ENSMUSP00000143156
Gene: ENSMUSG00000068876
AA Change: G185W

Domain	Start	End	E-Value	Type
low complexity region	31	43	N/A	INTRINSIC
low complexity region	189	198	N/A	INTRINSIC
low complexity region	242	260	N/A	INTRINSIC
coiled coil region	337	402	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000155485
AA Change: G185W

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

SMART Domains

Protein: ENSMUSP00000142809
Gene: ENSMUSG00000068876
AA Change: G185W

Domain	Start	End	E-Value	Type
low complexity region	31	43	N/A	INTRINSIC
low complexity region	189	198	N/A	INTRINSIC
low complexity region	242	260	N/A	INTRINSIC
low complexity region	340	357	N/A	INTRINSIC
coiled coil region	381	447	N/A	INTRINSIC

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.7%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased sensitivity to the ulcerogenic action of cysteamine. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,164,546	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,164,547	E685V	possibly damaging	Het
4930486L24Rik	A	G	13: 60,844,318	V298A	probably damaging	Het
Abca12	A	G	1: 71,321,450	V534A	probably benign	Het
Abcb4	A	G	5: 8,930,906		probably null	Het
Adam30	A	T	3: 98,162,854	S668C	probably damaging	Het
Ap1g1	T	A	8: 109,829,620	V196D	probably damaging	Het
Atp11b	G	A	3: 35,834,394	V738I	probably benign	Het
Cast	C	T	13: 74,798,715	V27I	probably damaging	Het
Cfap54	A	G	10: 92,815,918	I3090T	probably benign	Het
Champ1	T	C	8: 13,878,063	Y74H	probably damaging	Het
Cpm	T	C	10: 117,675,985	I278T	probably damaging	Het
Dcaf15	T	C	8: 84,102,216	T141A	probably benign	Het
Dcun1d1	C	T	3: 35,895,670	V244M	probably damaging	Het
Defb8	A	G	8: 19,447,559	L12P	probably damaging	Het
Dlg1	A	T	16: 31,790,261	I225F	probably damaging	Het
Dync2h1	G	T	9: 7,118,932	H2178N	possibly damaging	Het
Enam	A	G	5: 88,503,536	E893G	probably damaging	Het
Flt4	T	A	11: 49,627,207	L358Q	probably damaging	Het
Frmpd1	A	G	4: 45,284,785	Q1202R	probably benign	Het
Ghr	T	A	15: 3,320,397	D433V	possibly damaging	Het
Grm7	G	A	6: 111,080,422	D328N	possibly damaging	Het
Haus4	T	C	14: 54,542,120	D349G	probably benign	Het
Helz	T	C	11: 107,626,716		probably null	Het
Hif3a	A	G	7: 17,056,271	L69P	probably damaging	Het
Ifit1	A	G	19: 34,648,163	E233G	probably damaging	Het
Kcnc2	T	C	10: 112,455,828	F307S	possibly damaging	Het
Lrp1b	A	T	2: 41,110,759	V2151E	possibly damaging	Het
Lrp5	T	C	19: 3,659,454	N92S	probably damaging	Het
Metrnl	C	T	11: 121,716,013	A216V	probably damaging	Het
Msh2	A	G	17: 87,718,789	T732A	probably damaging	Het
Necab2	T	C	8: 119,467,595	L270P	probably damaging	Het
Noc3l	T	C	19: 38,815,713	K74E	probably benign	Het
Oas2	A	T	5: 120,733,472	L702Q	probably damaging	Het
Olfr136	A	C	17: 38,335,840	I228L	possibly damaging	Het
Olfr3	A	T	2: 36,813,035	I19N	probably benign	Het
Olfr728	A	G	14: 50,139,979	I220T	possibly damaging	Het
Olfr731	C	A	14: 50,238,367	V173L	possibly damaging	Het
Olfr812	A	T	10: 129,842,945	N32K	probably damaging	Het
Pax6	A	G	2: 105,695,400	H376R	possibly damaging	Het
Pnkd	C	T	1: 74,351,782	R376C	probably damaging	Het
Pnpla8	T	C	12: 44,295,913	F484S	probably damaging	Het
Psme4	T	A	11: 30,832,573	H909Q	probably benign	Het
Rasip1	CGG	CGGG	7: 45,632,396		probably null	Het
Rbm47	A	T	5: 66,025,052	Y413N	probably damaging	Het
Rnf123	A	G	9: 108,052,439		probably null	Het
Ruvbl1	T	A	6: 88,484,430	M259K	possibly damaging	Het
Sohlh2	A	G	3: 55,190,529	H134R	probably benign	Het
Sorbs2	A	G	8: 45,795,293	D447G	possibly damaging	Het
Tank	C	T	2: 61,650,229	P370S	probably benign	Het
Tenm4	A	G	7: 96,894,924	E2049G	probably damaging	Het
Tnik	A	G	3: 28,594,077	H426R	possibly damaging	Het
Trpm6	C	A	19: 18,854,200	S1476R	possibly damaging	Het
Trpm7	G	A	2: 126,840,783	Q389*	probably null	Het
Ttc28	G	A	5: 111,285,229	R2043Q	possibly damaging	Het
Tymp	A	G	15: 89,376,307	S103P	probably damaging	Het
Usp40	C	T	1: 87,967,179		probably null	Het
Vmn1r202	T	A	13: 22,501,807	N147Y	probably damaging	Het
Vmn2r89	T	C	14: 51,452,231	S64P	probably damaging	Het
Vps13a	A	T	19: 16,749,856	D229E	probably benign	Het
Vps52	A	G	17: 33,961,179	I354V	probably benign	Het
Zbtb8os	T	C	4: 129,341,764	F90L	probably damaging	Het
Zfp36l1	T	C	12: 80,110,496	D37G	possibly damaging	Het
Zfp467	A	G	6: 48,427,817	S109P	unknown	Het
Zzef1	T	A	11: 72,837,212	C535S	probably damaging	Het

Other mutations in Cgn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00228:Cgn	APN	3	94765548	missense	probably benign	0.00
IGL00823:Cgn	APN	3	94767209	missense	probably damaging	1.00
IGL01349:Cgn	APN	3	94767176	nonsense	probably null
IGL01433:Cgn	APN	3	94779459	missense	probably damaging	0.99
IGL01467:Cgn	APN	3	94779588	missense	probably damaging	1.00
IGL01781:Cgn	APN	3	94773205	missense	probably benign
IGL01789:Cgn	APN	3	94776218	missense	possibly damaging	0.63
IGL01879:Cgn	APN	3	94774364	nonsense	probably null
IGL02805:Cgn	APN	3	94774377	missense	probably damaging	0.96
IGL02814:Cgn	APN	3	94774240	missense	probably benign	0.00
IGL02926:Cgn	APN	3	94778016	missense	probably benign	0.01
IGL03113:Cgn	APN	3	94779234	missense	probably benign
IGL03340:Cgn	APN	3	94778095	intron	probably benign
R0054:Cgn	UTSW	3	94762592	missense	possibly damaging	0.95
R0310:Cgn	UTSW	3	94765653	missense	possibly damaging	0.88
R0355:Cgn	UTSW	3	94774932	missense	probably benign
R0615:Cgn	UTSW	3	94770714	unclassified	probably benign
R0656:Cgn	UTSW	3	94774894	unclassified	probably benign
R1491:Cgn	UTSW	3	94763228	missense	probably damaging	1.00
R1509:Cgn	UTSW	3	94774258	missense	probably benign	0.00
R1794:Cgn	UTSW	3	94762557	critical splice donor site	probably null
R2113:Cgn	UTSW	3	94779806	missense	probably damaging	1.00
R3121:Cgn	UTSW	3	94778482	splice site	probably benign
R4655:Cgn	UTSW	3	94779249	nonsense	probably null
R4703:Cgn	UTSW	3	94776095	utr 3 prime	probably benign
R4715:Cgn	UTSW	3	94779438	missense	probably damaging	1.00
R4959:Cgn	UTSW	3	94778254	missense	probably benign	0.06
R4973:Cgn	UTSW	3	94778254	missense	probably benign	0.06
R4995:Cgn	UTSW	3	94779936	missense	probably damaging	1.00
R5011:Cgn	UTSW	3	94776145	missense	probably null	1.00
R5329:Cgn	UTSW	3	94779990	start codon destroyed	probably null	0.02
R5524:Cgn	UTSW	3	94779989	start codon destroyed	probably null	0.56
R5695:Cgn	UTSW	3	94773635	missense	probably benign	0.00
R5839:Cgn	UTSW	3	94774393	missense	probably damaging	0.99
R5987:Cgn	UTSW	3	94779522	missense	probably benign	0.00
R6146:Cgn	UTSW	3	94767125	missense	possibly damaging	0.94
R6311:Cgn	UTSW	3	94778176	intron	probably benign
R6948:Cgn	UTSW	3	94773221	missense	probably benign	0.06
R7038:Cgn	UTSW	3	94763085	missense	possibly damaging	0.80
R7231:Cgn	UTSW	3	94773192	missense	probably damaging	0.99
R7251:Cgn	UTSW	3	94776199	missense	possibly damaging	0.82
R7408:Cgn	UTSW	3	94763055	nonsense	probably null
R7828:Cgn	UTSW	3	94769179	missense	probably damaging	0.97
R7882:Cgn	UTSW	3	94762634	missense	probably damaging	1.00
R7975:Cgn	UTSW	3	94764529	missense	probably benign	0.03
R8082:Cgn	UTSW	3	94763061	missense	probably benign	0.21
R8090:Cgn	UTSW	3	94779953	missense	probably damaging	1.00
R8128:Cgn	UTSW	3	94769381	missense	probably benign	0.06
R8275:Cgn	UTSW	3	94774953	missense	possibly damaging	0.52
R8774:Cgn	UTSW	3	94773500	missense	probably damaging	1.00
R8774-TAIL:Cgn	UTSW	3	94773500	missense	probably damaging	1.00
R9036:Cgn	UTSW	3	94767241	missense	possibly damaging	0.90
R9060:Cgn	UTSW	3	94779855	missense	probably damaging	1.00
R9434:Cgn	UTSW	3	94765530	missense	probably damaging	0.99
R9616:Cgn	UTSW	3	94763025	missense	probably damaging	0.97
R9720:Cgn	UTSW	3	94779311	missense	probably benign	0.10
Z1176:Cgn	UTSW	3	94774273	missense	possibly damaging	0.81
Z1176:Cgn	UTSW	3	94774346	missense	probably damaging	1.00
Z1176:Cgn	UTSW	3	94776178	missense	probably benign	0.16

Predicted Primers

PCR Primer
(F):5'- GGTTCTTTGAACTGTCCACATGG -3'
(R):5'- AGCACATCTGATGAGGAGCC -3'

Sequencing Primer
(F):5'- GAACTGTCCACATGGTTGTCATAC -3'
(R):5'- TGGAAAACTGATCCGTTCCCAGTC -3'

Posted On

2015-10-21