Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02805:Cgn'

360367

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 #

IGL02805

Quality Score

Status

Chromosome

Chromosomal Location

94667376-94693826 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 94681687 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 469 (L469F)

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: L461F

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000102893
Gene: ENSMUSG00000068876
AA Change: L461F

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: L469F

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000102894
Gene: ENSMUSG00000068876
AA Change: L469F

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	T	C	11: 84,113,959 (GRCm39)		probably benign	Het
Ankdd1b	A	G	13: 96,580,810 (GRCm39)	S163P	probably benign	Het
Ap5z1	G	A	5: 142,456,038 (GRCm39)		probably benign	Het
Asb14	A	G	14: 26,623,144 (GRCm39)	N172S	possibly damaging	Het
Avil	G	A	10: 126,843,486 (GRCm39)	V139I	possibly damaging	Het
C130073F10Rik	A	T	4: 101,748,171 (GRCm39)	M1K	probably null	Het
Ccdc33	T	A	9: 58,005,874 (GRCm39)	I37F	probably benign	Het
Ccdc9	T	C	7: 16,009,199 (GRCm39)	M550V	probably benign	Het
Cfap119	T	C	7: 127,185,566 (GRCm39)	D121G	possibly damaging	Het
Dnaaf3	C	T	7: 4,526,704 (GRCm39)	G458R	possibly damaging	Het
Dscaml1	T	A	9: 45,359,195 (GRCm39)	N151K	probably damaging	Het
Dsel	A	G	1: 111,790,046 (GRCm39)	V163A	probably damaging	Het
Epg5	A	G	18: 78,073,406 (GRCm39)		probably benign	Het
Fanca	A	T	8: 124,016,233 (GRCm39)	I670N	probably damaging	Het
Fsip2	T	C	2: 82,823,839 (GRCm39)	V6524A	probably benign	Het
Gm10985	T	C	3: 53,752,514 (GRCm39)		probably null	Het
Gm1818	C	T	12: 48,602,518 (GRCm39)		noncoding transcript	Het
Hars2	C	T	18: 36,920,630 (GRCm39)	R158*	probably null	Het
Htr5b	A	G	1: 121,455,617 (GRCm39)	V101A	probably damaging	Het
Ipp	A	G	4: 116,386,885 (GRCm39)	I356V	possibly damaging	Het
Itga8	T	A	2: 12,194,291 (GRCm39)	N703I	possibly damaging	Het
Or8b3	T	A	9: 38,315,132 (GRCm39)		probably benign	Het
Ppp6r3	T	C	19: 3,542,428 (GRCm39)	N406D	probably benign	Het
Rbbp6	G	A	7: 122,600,411 (GRCm39)		probably benign	Het
Rgs7	T	C	1: 174,977,262 (GRCm39)	Y114C	probably damaging	Het
Ripor1	A	G	8: 106,344,203 (GRCm39)	T446A	probably damaging	Het
Rnf213	A	G	11: 119,325,892 (GRCm39)	D1562G	probably damaging	Het
Scaf11	A	T	15: 96,318,063 (GRCm39)	D500E	possibly damaging	Het
Spock1	A	G	13: 58,055,391 (GRCm39)	I4T	possibly damaging	Het
Srebf2	C	A	15: 82,054,045 (GRCm39)	N35K	probably benign	Het
Srgap3	G	T	6: 112,704,224 (GRCm39)	H922N	probably damaging	Het
Stk32c	A	C	7: 138,701,762 (GRCm39)	H112Q	probably damaging	Het
Styxl2	T	C	1: 165,926,630 (GRCm39)	E994G	probably damaging	Het
Thumpd3	A	G	6: 113,043,758 (GRCm39)	D391G	probably damaging	Het
Vmn2r38	T	A	7: 9,078,546 (GRCm39)	H612L	probably damaging	Het
Vsig10l	T	G	7: 43,114,666 (GRCm39)	I289S	probably damaging	Het
Wwox	G	A	8: 115,438,753 (GRCm39)	G273E	probably damaging	Het
Zscan4d	T	G	7: 10,898,897 (GRCm39)		probably benign	Het

Other mutations in Cgn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00228:Cgn	APN	3	94,672,855 (GRCm39)	missense	probably benign	0.00
IGL00823:Cgn	APN	3	94,674,519 (GRCm39)	missense	probably damaging	1.00
IGL01349:Cgn	APN	3	94,674,486 (GRCm39)	nonsense	probably null
IGL01433:Cgn	APN	3	94,686,769 (GRCm39)	missense	probably damaging	0.99
IGL01467:Cgn	APN	3	94,686,898 (GRCm39)	missense	probably damaging	1.00
IGL01781:Cgn	APN	3	94,680,515 (GRCm39)	missense	probably benign
IGL01789:Cgn	APN	3	94,683,528 (GRCm39)	missense	possibly damaging	0.63
IGL01879:Cgn	APN	3	94,681,674 (GRCm39)	nonsense	probably null
IGL02814:Cgn	APN	3	94,681,550 (GRCm39)	missense	probably benign	0.00
IGL02926:Cgn	APN	3	94,685,326 (GRCm39)	missense	probably benign	0.01
IGL03113:Cgn	APN	3	94,686,544 (GRCm39)	missense	probably benign
IGL03340:Cgn	APN	3	94,685,405 (GRCm39)	intron	probably benign
R0054:Cgn	UTSW	3	94,669,899 (GRCm39)	missense	possibly damaging	0.95
R0310:Cgn	UTSW	3	94,672,960 (GRCm39)	missense	possibly damaging	0.88
R0355:Cgn	UTSW	3	94,682,242 (GRCm39)	missense	probably benign
R0615:Cgn	UTSW	3	94,678,024 (GRCm39)	unclassified	probably benign
R0656:Cgn	UTSW	3	94,682,204 (GRCm39)	unclassified	probably benign
R1491:Cgn	UTSW	3	94,670,535 (GRCm39)	missense	probably damaging	1.00
R1509:Cgn	UTSW	3	94,681,568 (GRCm39)	missense	probably benign	0.00
R1794:Cgn	UTSW	3	94,669,864 (GRCm39)	critical splice donor site	probably null
R2113:Cgn	UTSW	3	94,687,116 (GRCm39)	missense	probably damaging	1.00
R3121:Cgn	UTSW	3	94,685,792 (GRCm39)	splice site	probably benign
R4655:Cgn	UTSW	3	94,686,559 (GRCm39)	nonsense	probably null
R4703:Cgn	UTSW	3	94,683,405 (GRCm39)	utr 3 prime	probably benign
R4714:Cgn	UTSW	3	94,686,748 (GRCm39)	missense	probably damaging	1.00
R4715:Cgn	UTSW	3	94,686,748 (GRCm39)	missense	probably damaging	1.00
R4959:Cgn	UTSW	3	94,685,564 (GRCm39)	missense	probably benign	0.06
R4973:Cgn	UTSW	3	94,685,564 (GRCm39)	missense	probably benign	0.06
R4995:Cgn	UTSW	3	94,687,246 (GRCm39)	missense	probably damaging	1.00
R5011:Cgn	UTSW	3	94,683,455 (GRCm39)	missense	probably null	1.00
R5329:Cgn	UTSW	3	94,687,300 (GRCm39)	start codon destroyed	probably null	0.02
R5524:Cgn	UTSW	3	94,687,299 (GRCm39)	start codon destroyed	probably null	0.56
R5695:Cgn	UTSW	3	94,680,945 (GRCm39)	missense	probably benign	0.00
R5839:Cgn	UTSW	3	94,681,703 (GRCm39)	missense	probably damaging	0.99
R5987:Cgn	UTSW	3	94,686,832 (GRCm39)	missense	probably benign	0.00
R6146:Cgn	UTSW	3	94,674,435 (GRCm39)	missense	possibly damaging	0.94
R6311:Cgn	UTSW	3	94,685,486 (GRCm39)	intron	probably benign
R6948:Cgn	UTSW	3	94,680,531 (GRCm39)	missense	probably benign	0.06
R7038:Cgn	UTSW	3	94,670,392 (GRCm39)	missense	possibly damaging	0.80
R7231:Cgn	UTSW	3	94,680,502 (GRCm39)	missense	probably damaging	0.99
R7251:Cgn	UTSW	3	94,683,509 (GRCm39)	missense	possibly damaging	0.82
R7408:Cgn	UTSW	3	94,670,362 (GRCm39)	nonsense	probably null
R7828:Cgn	UTSW	3	94,676,489 (GRCm39)	missense	probably damaging	0.97
R7882:Cgn	UTSW	3	94,669,941 (GRCm39)	missense	probably damaging	1.00
R7975:Cgn	UTSW	3	94,671,836 (GRCm39)	missense	probably benign	0.03
R8082:Cgn	UTSW	3	94,670,368 (GRCm39)	missense	probably benign	0.21
R8090:Cgn	UTSW	3	94,687,263 (GRCm39)	missense	probably damaging	1.00
R8128:Cgn	UTSW	3	94,676,691 (GRCm39)	missense	probably benign	0.06
R8275:Cgn	UTSW	3	94,682,263 (GRCm39)	missense	possibly damaging	0.52
R8774:Cgn	UTSW	3	94,680,810 (GRCm39)	missense	probably damaging	1.00
R8774-TAIL:Cgn	UTSW	3	94,680,810 (GRCm39)	missense	probably damaging	1.00
R9036:Cgn	UTSW	3	94,674,551 (GRCm39)	missense	possibly damaging	0.90
R9060:Cgn	UTSW	3	94,687,165 (GRCm39)	missense	probably damaging	1.00
R9434:Cgn	UTSW	3	94,672,837 (GRCm39)	missense	probably damaging	0.99
R9616:Cgn	UTSW	3	94,670,332 (GRCm39)	missense	probably damaging	0.97
R9720:Cgn	UTSW	3	94,686,621 (GRCm39)	missense	probably benign	0.10
Z1176:Cgn	UTSW	3	94,683,488 (GRCm39)	missense	probably benign	0.16
Z1176:Cgn	UTSW	3	94,681,656 (GRCm39)	missense	probably damaging	1.00
Z1176:Cgn	UTSW	3	94,681,583 (GRCm39)	missense	possibly damaging	0.81

Posted On

2015-12-18