Mutagenetix > Incidental Mutation

Incidental Mutation 'R5839:Cgn'

449779

Institutional Source

Beutler Lab

Gene Symbol

Cgn

Ensembl Gene

ENSMUSG00000068876

Gene Name

cingulin

Synonyms

6330408J11Rik

MMRRC Submission

044059-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5839 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

94760069-94786492 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 94774393 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 464 (L464R)

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

possibly damaging
Transcript: ENSMUST00000107272
AA Change: L456R

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000102893
Gene: ENSMUSG00000068876
AA Change: L456R

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: L464R

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000102894
Gene: ENSMUSG00000068876
AA Change: L464R

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

SMART Domains

Protein: ENSMUSP00000143156
Gene: ENSMUSG00000068876

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

SMART Domains

Protein: ENSMUSP00000142809
Gene: ENSMUSG00000068876

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

0.1080

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.1%

Validation Efficiency

94% (62/66)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931409K22Rik	T	C	5: 24,552,026	K218E	probably damaging	Het
Adam22	T	A	5: 8,136,861	Y420F	probably damaging	Het
Adcy8	A	G	15: 64,716,182	Y919H	probably damaging	Het
Ampd1	A	T	3: 103,085,428	N162I	possibly damaging	Het
Arhgef15	G	A	11: 68,954,156	A205V	probably benign	Het
Ash1l	A	G	3: 88,983,351	K846E	probably damaging	Het
Azi2	C	T	9: 118,059,119	T250I	probably damaging	Het
Btbd16	G	A	7: 130,815,808		probably null	Het
Ceacam16	T	A	7: 19,856,083	K52*	probably null	Het
Cfap74	T	C	4: 155,422,750		probably null	Het
Chpt1	T	A	10: 88,503,763	H32L	probably damaging	Het
Clk1	G	A	1: 58,421,915	T7I	probably benign	Het
Col6a5	C	T	9: 105,945,393		probably null	Het
Cpne4	C	A	9: 104,925,828	R224S	probably damaging	Het
Cysltr2	T	C	14: 73,030,183	Y29C	probably damaging	Het
Ddx5	A	G	11: 106,782,206	S498P	probably damaging	Het
Dgkg	A	G	16: 22,566,494	Y382H	possibly damaging	Het
Efemp1	A	G	11: 28,921,418	E339G	possibly damaging	Het
Focad	T	A	4: 88,196,846		probably benign	Het
Gabbr1	G	A	17: 37,067,868	G650D	probably damaging	Het
Galnt9	A	G	5: 110,577,520	S108G	probably benign	Het
Igkv8-28	T	A	6: 70,144,161	M1L	probably benign	Het
Kcnq2	T	C	2: 181,109,751	Y284C	probably damaging	Het
Macf1	A	G	4: 123,381,324	F6299S	probably damaging	Het
Magi3	G	A	3: 104,219,731	T79M	probably damaging	Het
Mdh2	T	A	5: 135,783,292		probably null	Het
Mgam	A	C	6: 40,740,064	N108T	possibly damaging	Het
N4bp3	A	T	11: 51,646,082	F55I	probably benign	Het
Nasp	C	T	4: 116,602,091		probably null	Het
Ncapg	T	A	5: 45,672,278	H107Q	probably damaging	Het
Ofcc1	T	C	13: 40,280,545	K28R	probably damaging	Het
Opn1sw	C	T	6: 29,379,830	C135Y	probably damaging	Het
Pigo	T	C	4: 43,022,104	M346V	probably damaging	Het
Pkn2	A	T	3: 142,821,529	D386E	probably benign	Het
Psd2	G	T	18: 36,007,524	V617L	probably damaging	Het
Rab39	C	T	9: 53,706,087	R10H	probably damaging	Het
Slc6a6	T	A	6: 91,723,317	C9S	probably damaging	Het
Slc8a2	A	T	7: 16,134,487	I215F	probably damaging	Het
Slitrk5	T	C	14: 111,679,598	V218A	probably benign	Het
Smchd1	A	T	17: 71,394,862	V1045E	probably damaging	Het
Smoc1	T	C	12: 81,167,585	I247T	probably damaging	Het
Snapc4	G	C	2: 26,365,534	Q993E	probably benign	Het
Spata5	A	G	3: 37,464,654	D779G	probably damaging	Het
Spidr	A	T	16: 16,037,502	I383N	probably damaging	Het
Stab2	A	G	10: 86,872,691	V219A	probably damaging	Het
Tas2r103	T	C	6: 133,036,816	T96A	probably benign	Het
Tcaf3	T	C	6: 42,593,849	E323G	possibly damaging	Het
Tecta	C	T	9: 42,331,023	D2085N	probably benign	Het
Tecta	T	C	9: 42,372,976	T938A	possibly damaging	Het
Tekt2	T	A	4: 126,322,836	E328V	probably damaging	Het
Tgfb1i1	A	G	7: 128,253,365	*462W	probably null	Het
Tnip2	T	C	5: 34,496,632		probably benign	Het
Tpd52l2	G	A	2: 181,499,898	V25I	probably benign	Het
Traj15	T	A	14: 54,204,469		probably benign	Het
Trpm8	A	T	1: 88,325,506	I106F	possibly damaging	Het
Ttc22	T	C	4: 106,638,520	L357P	probably damaging	Het
Ttn	T	C	2: 76,909,428	H3589R	probably benign	Het
Vmn1r28	T	A	6: 58,265,295	I41N	possibly damaging	Het
Wasf1	T	A	10: 40,936,319	V368E	unknown	Het
Zeb1	A	G	18: 5,767,507	M673V	probably benign	Het
Zfp799	T	C	17: 32,822,112	D31G	probably null	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
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'- GCTCCAGTTCCTGTCACATG -3'
(R):5'- GGGTTAGATGCATATGCCACC -3'

Sequencing Primer
(F):5'- AGTTCCTGTCACATGCCTGGG -3'
(R):5'- TAGATGCATATGCCACCCTGCC -3'

Posted On

2016-12-20