Mutagenetix > Incidental Mutation

Incidental Mutation 'R9720:Cgn'

730704

Institutional Source

Beutler Lab

Gene Symbol

Cgn

Ensembl Gene

ENSMUSG00000068876

Gene Name

cingulin

Synonyms

6330408J11Rik

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9720 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

94760069-94786492 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 94779311 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 227 (A227V)

Ref Sequence

ENSEMBL: ENSMUSP00000102894 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000107272
AA Change: A227V

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000102893
Gene: ENSMUSG00000068876
AA Change: A227V

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 benign
Transcript: ENSMUST00000107273
AA Change: A227V

PolyPhen 2 Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000102894
Gene: ENSMUSG00000068876
AA Change: A227V

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 benign
Transcript: ENSMUST00000153263
AA Change: A227V

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000143156
Gene: ENSMUSG00000068876
AA Change: A227V

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 benign
Transcript: ENSMUST00000155485
AA Change: A227V

PolyPhen 2 Score 0.370 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000142809
Gene: ENSMUSG00000068876
AA Change: A227V

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.8%
20x: 99.3%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	T	G	11: 84,263,357	V968G	probably damaging	Het
Adam33	A	G	2: 131,058,316	V110A		Het
Adamts2	T	C	11: 50,776,127	M417T	probably damaging	Het
Adgrv1	A	G	13: 81,592,574	I145T	probably damaging	Het
Ampd3	C	A	7: 110,777,849	H16N	probably benign	Het
Ank3	A	T	10: 69,989,505	S1335C		Het
Ankrd26	G	A	6: 118,521,941	S1208L	probably damaging	Het
Atmin	G	A	8: 116,954,914		probably null	Het
AU018091	T	C	7: 3,159,432	T323A	probably benign	Het
Barx2	A	G	9: 31,854,111		probably null	Het
Brpf3	A	G	17: 28,807,356	I468V	probably benign	Het
Cacna1g	T	A	11: 94,411,471	H1985L	probably benign	Het
Cass4	T	C	2: 172,427,648	V550A	probably benign	Het
Ccdc88a	A	G	11: 29,463,813	S784G	probably benign	Het
Cd300ld2	C	T	11: 115,012,292		probably null	Het
Clcn7	G	T	17: 25,155,497	R524L	probably damaging	Het
Cldn22	G	A	8: 47,824,751	A75T	probably benign	Het
Ddb1	A	G	19: 10,608,360	D146G	probably benign	Het
Dhx32	C	A	7: 133,723,128	E607*	probably null	Het
Egfem1	A	G	3: 29,662,431	Y350C	probably damaging	Het
Eri2	T	A	7: 119,787,753	D181V	probably damaging	Het
Gabrg2	T	C	11: 41,971,846	N137S	probably damaging	Het
Gar1	C	T	3: 129,826,848	G197S	unknown	Het
Ggta1	G	T	2: 35,413,406	D91E	probably benign	Het
Hap1	T	A	11: 100,355,870	I70F	probably benign	Het
Hars2	A	G	18: 36,787,554	Y150C	probably damaging	Het
Igsf9b	G	A	9: 27,309,514	V59I	probably damaging	Het
Il15	T	G	8: 82,331,979	K142Q	probably damaging	Het
Klhl23	T	C	2: 69,824,460	Y225H	possibly damaging	Het
Krt6b	T	A	15: 101,679,791	I145F	probably benign	Het
Lgals3bp	T	A	11: 118,393,257	T499S	probably benign	Het
Lrriq4	A	G	3: 30,659,928	N490S	probably damaging	Het
Ltbr	G	A	6: 125,307,385	R365W	probably damaging	Het
Mical3	A	G	6: 120,958,277	S1763P	probably damaging	Het
Ncoa6	A	G	2: 155,408,384	V1000A	probably damaging	Het
Nefm	A	G	14: 68,121,344	S414P	probably benign	Het
Nphs1	T	C	7: 30,466,074	V622A	possibly damaging	Het
Olfr214	T	C	6: 116,557,055	V210A	possibly damaging	Het
Olfr809	T	C	10: 129,776,712	V281A	probably benign	Het
Pde4dip	T	C	3: 97,695,971	D2234G	probably damaging	Het
Pde6c	A	T	19: 38,169,439	Y637F	probably benign	Het
Pigg	T	A	5: 108,319,934	C266*	probably null	Het
Pkdrej	A	T	15: 85,818,296	D1146E	possibly damaging	Het
Pkp2	T	C	16: 16,269,720	V756A	probably benign	Het
Pole	C	T	5: 110,337,043	T2245I	probably benign	Het
Ppil2	T	C	16: 17,093,026	T259A	probably damaging	Het
Ppm1g	A	C	5: 31,203,570		probably null	Het
Ppp1r36	A	G	12: 76,438,524	I340M	possibly damaging	Het
Pvr	G	A	7: 19,909,196	R371*	probably null	Het
Rassf9	G	A	10: 102,512,508		probably benign	Het
Rtl1	A	C	12: 109,593,448	N652K	possibly damaging	Het
Sall4	G	C	2: 168,750,240	S998C	probably damaging	Het
Sdk1	T	C	5: 142,212,041	Y2150H	probably damaging	Het
Serpinb3b	A	T	1: 107,155,939	I170K	probably benign	Het
Shank2	A	T	7: 144,128,400	D390V	probably damaging	Het
Slc39a4	A	G	15: 76,616,730	V11A	probably benign	Het
Synj2	C	T	17: 5,990,309	T220I	probably benign	Het
Taar7a	A	G	10: 23,992,835	I216T	probably benign	Het
Tas2r122	G	T	6: 132,711,671	D86E	probably benign	Het
Tbxa2r	T	A	10: 81,333,184	C236S	probably benign	Het
Trav13-4-dv7	C	A	14: 53,757,829	T80K	probably benign	Het
Trav6d-5	T	A	14: 52,795,620	C109S	probably damaging	Het
Trio	A	G	15: 27,847,409	M982T	probably benign	Het
Uhrf1bp1l	T	A	10: 89,805,357	S797T	probably benign	Het
Unc80	A	T	1: 66,644,326	T2176S	possibly damaging	Het
Zfp120	A	T	2: 150,117,277	I397K	probably benign	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
R4714:Cgn	UTSW	3	94779438	missense	probably damaging	1.00
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
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'- TTAGCAAAGGAGTCTGTGGGC -3'
(R):5'- TGTCTTCAGTGGACTCGCTC -3'

Sequencing Primer
(F):5'- TCTGTGGGCTGATGAAAAGC -3'
(R):5'- GTGGACTCGCTCATCAACAAGTTTG -3'

Posted On

2022-10-06