Mutagenetix > Incidental Mutation

Incidental Mutation 'R0656:Cgn'

62542

Institutional Source

Beutler Lab

Gene Symbol

Cgn

Ensembl Gene

ENSMUSG00000068876

Gene Name

cingulin

Synonyms

6330408J11Rik

MMRRC Submission

038841-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R0656 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

94760069-94786492 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 94774894 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

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 benign
Transcript: ENSMUST00000107272

SMART Domains

Protein: ENSMUSP00000102893
Gene: ENSMUSG00000068876

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

SMART Domains

Protein: ENSMUSP00000102894
Gene: ENSMUSG00000068876

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

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.3%
20x: 94.2%

Validation Efficiency

98% (92/94)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930533K18Rik	T	A	10: 70,868,800		noncoding transcript	Het
4931409K22Rik	C	T	5: 24,549,762	V337M	possibly damaging	Het
Alox5	A	G	6: 116,423,330		probably benign	Het
Anxa11	T	A	14: 25,873,997	D203E	probably damaging	Het
Atp12a	A	T	14: 56,374,481	N371Y	probably damaging	Het
Bloc1s6	A	G	2: 122,742,623	I39M	probably benign	Het
Celsr3	A	C	9: 108,834,655	I1688L	possibly damaging	Het
Chd4	A	T	6: 125,102,967	I453F	probably damaging	Het
Dbnl	A	G	11: 5,797,321	T247A	probably benign	Het
Dpysl3	T	C	18: 43,438,071	E46G	possibly damaging	Het
Dsg1a	T	C	18: 20,335,892		probably benign	Het
Fbp1	C	T	13: 62,871,285	E150K	probably benign	Het
Flnb	T	A	14: 7,927,352	L1854Q	probably damaging	Het
Gcn1l1	C	T	5: 115,589,303	T714M	probably benign	Het
Gm12216	A	T	11: 53,813,336		probably benign	Het
Gpr82	T	C	X: 13,665,590	S126P	probably benign	Het
Hmbs	T	A	9: 44,337,360	H256L	probably benign	Het
Ibsp	A	T	5: 104,310,020		probably null	Het
Ints13	A	G	6: 146,552,461	V240A	probably benign	Het
Kalrn	T	C	16: 34,032,467	D343G	probably damaging	Het
Kin	T	C	2: 10,085,720		probably benign	Het
Klhdc1	T	C	12: 69,258,030	V192A	probably benign	Het
Lpar3	T	A	3: 146,240,671	C35S	possibly damaging	Het
Lrrtm4	A	G	6: 80,021,970	I122V	possibly damaging	Het
Mfsd13a	C	T	19: 46,366,504	T40I	probably benign	Het
Mgat4c	T	C	10: 102,388,591	M222T	probably damaging	Het
Muc4	C	A	16: 32,751,670	S516Y	possibly damaging	Het
Myo1e	A	T	9: 70,367,674	Q703L	probably damaging	Het
Neb	A	G	2: 52,225,558		probably benign	Het
Necab3	T	G	2: 154,546,303	E239A	probably null	Het
Npr1	G	T	3: 90,461,369	N461K	probably benign	Het
Olfr1294	T	C	2: 111,537,627	I221V	probably damaging	Het
Pcdhb2	A	G	18: 37,295,490	Y172C	probably damaging	Het
Pcdhb7	A	G	18: 37,341,901	D30G	probably benign	Het
Phf12	A	C	11: 78,029,332	Q898P	probably benign	Het
Plekhn1	T	C	4: 156,225,364	E132G	possibly damaging	Het
Ptpn3	A	G	4: 57,270,075	V29A	probably benign	Het
Rundc3b	T	A	5: 8,569,529	I143F	probably damaging	Het
Ryr3	T	G	2: 112,648,306		probably benign	Het
Sash1	A	G	10: 8,751,137		probably null	Het
Slc4a2	A	G	5: 24,431,259	D201G	probably benign	Het
Tecpr1	T	A	5: 144,214,053		probably null	Het
Timm21	T	C	18: 84,949,201	H150R	probably damaging	Het
Tmem79	T	C	3: 88,332,934	T236A	probably damaging	Het
Usp34	G	T	11: 23,472,967	V3095F	probably damaging	Het
Vmn1r8	A	T	6: 57,036,588	Q208L	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
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
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'- AGCCAGAATGGACAACTTAGCCAAG -3'
(R):5'- GCGGTAGATGTGTAACTGCCTGAC -3'

Sequencing Primer
(F):5'- TCTAAGCTGCCCATAGAATAAAGG -3'
(R):5'- GTGTAACTGCCTGACACAGTATC -3'

Posted On

2013-07-30