Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02814:Cgn'

360702

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cgn

Ensembl Gene

ENSMUSG00000068876

Gene Name

cingulin

Synonyms

6330408J11Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02814

Quality Score

Status

Chromosome

Chromosomal Location

94760069-94786492 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 94774240 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 515 (T515M)

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: T507M

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000102893
Gene: ENSMUSG00000068876
AA Change: T507M

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: T515M

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000102894
Gene: ENSMUSG00000068876
AA Change: T515M

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

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700081O15Rik	C	A	19: 7,420,422	N111K	possibly damaging	Het
Abca9	A	T	11: 110,154,467	F347I	possibly damaging	Het
Adcy5	A	G	16: 35,303,649	T1233A	probably benign	Het
Blnk	C	T	19: 40,962,429	D93N	probably damaging	Het
Cadps2	T	C	6: 23,321,707	E1083G	probably damaging	Het
Capn8	C	A	1: 182,598,771	L224M	probably damaging	Het
Cdh4	A	T	2: 179,780,474	E130D	probably benign	Het
Chrna10	C	T	7: 102,112,262	G374D	probably benign	Het
Chrnb1	T	A	11: 69,795,680	Y38F	probably damaging	Het
Cyld	A	G	8: 88,744,897	D621G	probably benign	Het
Cyp4f37	T	C	17: 32,634,671	F443S	probably benign	Het
Dctn1	C	A	6: 83,189,914	A152E	probably damaging	Het
Eml4	T	A	17: 83,441,362	Y228*	probably null	Het
Fbln2	T	A	6: 91,265,857	C846*	probably null	Het
Fut2	C	T	7: 45,650,769	G193E	possibly damaging	Het
Gart	T	C	16: 91,623,457	S833G	possibly damaging	Het
Gda	T	C	19: 21,428,475		probably null	Het
Gjb5	C	T	4: 127,355,562	R263Q	probably benign	Het
Gtf2i	T	C	5: 134,286,704	K193E	probably damaging	Het
Hist2h4	C	A	3: 96,263,287	K6N	probably benign	Het
Ints1	C	T	5: 139,772,391	E244K	possibly damaging	Het
Kat14	G	A	2: 144,402,463	S412N	probably benign	Het
Kcnn3	A	T	3: 89,521,175	H236L	possibly damaging	Het
Kif15	T	A	9: 123,003,640	I1005K	possibly damaging	Het
Klrc1	T	C	6: 129,678,892	T7A	possibly damaging	Het
Lcp2	T	C	11: 34,071,033	S130P	probably damaging	Het
Ldha	T	A	7: 46,850,891	Y133*	probably null	Het
Lrp2	A	G	2: 69,506,736	C1231R	probably damaging	Het
Lrrn1	T	A	6: 107,567,352	V37D	probably damaging	Het
Mep1a	T	A	17: 43,477,221	H648L	probably benign	Het
Mmp25	C	T	17: 23,639,762	G272R	probably damaging	Het
Myh15	A	G	16: 49,145,438		probably benign	Het
Myl3	G	T	9: 110,767,991	E140*	probably null	Het
Nlrp4f	A	G	13: 65,185,042	S809P	probably damaging	Het
Nrde2	T	C	12: 100,144,135	I207M	probably null	Het
Olfr1373	C	T	11: 52,144,810	C240Y	probably damaging	Het
Olfr474	T	C	7: 107,954,770	I43T	probably benign	Het
Olfr541	T	C	7: 140,705,133	L294P	probably damaging	Het
Paics	T	G	5: 76,962,473	V245G	probably damaging	Het
Pank1	A	G	19: 34,840,855	F95L	probably damaging	Het
Pde4dip	A	C	3: 97,767,100	C167G	probably damaging	Het
Picalm	C	A	7: 90,191,749	T542K	possibly damaging	Het
Piezo1	A	G	8: 122,498,215	Y651H	probably damaging	Het
Pikfyve	T	A	1: 65,250,194	C1208*	probably null	Het
Pkd1l1	T	A	11: 8,902,582	T634S	probably benign	Het
Rab32	T	C	10: 10,546,427	T183A	probably benign	Het
Rad18	T	C	6: 112,644,622	I206V	possibly damaging	Het
Rbm15b	T	C	9: 106,885,776	I398V	probably benign	Het
Rbm28	T	C	6: 29,159,726	E101G	probably benign	Het
Rsf1	T	C	7: 97,661,227	L388P	probably damaging	Het
Scnn1g	A	G	7: 121,740,365	Y129C	probably damaging	Het
Slc7a13	G	A	4: 19,839,387	C330Y	probably benign	Het
Spock1	A	T	13: 57,587,673	V101E	probably damaging	Het
Sympk	T	A	7: 19,053,273	W1029R	probably damaging	Het
Syne2	T	A	12: 75,945,376	H2008Q	possibly damaging	Het
Tgs1	T	A	4: 3,585,719	Y199N	probably damaging	Het
Trim10	T	A	17: 36,877,336	C481*	probably null	Het
Vmn2r102	A	G	17: 19,677,908	E395G	probably damaging	Het
Wfs1	A	C	5: 36,967,669	V626G	possibly damaging	Het
Zfp689	A	G	7: 127,445,021	S146P	possibly damaging	Het
Zfp786	T	C	6: 47,819,841	H721R	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
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
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

Posted On

2015-12-18