Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00823:Cgn'

9654

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 #

IGL00823

Quality Score

Status

Chromosome

Chromosomal Location

94667376-94693826 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 94674519 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 873 (R873W)

Ref Sequence

ENSEMBL: ENSMUSP00000102894 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000107272
AA Change: R865W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000102893
Gene: ENSMUSG00000068876
AA Change: R865W

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: R873W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000102894
Gene: ENSMUSG00000068876
AA Change: R873W

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

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	T	C	5: 77,026,381 (GRCm39)		probably benign	Het
Adam5	T	C	8: 25,308,758 (GRCm39)	E39G	probably benign	Het
Anapc7	G	A	5: 122,571,540 (GRCm39)	W205*	probably null	Het
Arhgap5	C	T	12: 52,565,525 (GRCm39)	T832I	possibly damaging	Het
Arhgef10	T	A	8: 14,990,378 (GRCm39)		probably benign	Het
Atg5	A	G	10: 44,239,040 (GRCm39)	T274A	probably benign	Het
Baiap2l2	G	T	15: 79,168,765 (GRCm39)		probably benign	Het
Brap	T	A	5: 121,803,290 (GRCm39)	M146K	probably damaging	Het
Brpf1	T	C	6: 113,298,847 (GRCm39)	S1074P	probably benign	Het
Camta1	A	C	4: 151,169,058 (GRCm39)	I231R	probably benign	Het
Ccdc15	C	T	9: 37,231,709 (GRCm39)	G205D	probably benign	Het
Cd6	G	T	19: 10,773,758 (GRCm39)		probably benign	Het
Cdh17	T	G	4: 11,783,412 (GRCm39)	S219R	possibly damaging	Het
Ctnna3	C	T	10: 63,373,322 (GRCm39)	P41L	possibly damaging	Het
Dmbt1	T	C	7: 130,659,888 (GRCm39)	W484R	probably benign	Het
Dmd	A	G	X: 83,469,419 (GRCm39)		probably null	Het
Dnah17	C	T	11: 117,937,987 (GRCm39)	V3347I	probably benign	Het
Fgd5	T	A	6: 91,965,440 (GRCm39)	S400T	possibly damaging	Het
Kitl	C	A	10: 99,923,206 (GRCm39)		probably benign	Het
Lamc3	A	T	2: 31,808,533 (GRCm39)	D763V	probably damaging	Het
Lgmn	T	C	12: 102,364,435 (GRCm39)		probably benign	Het
Lpcat2	T	G	8: 93,591,598 (GRCm39)	W81G	possibly damaging	Het
Myh13	A	G	11: 67,246,773 (GRCm39)	I1165V	probably benign	Het
Nf1	A	G	11: 79,456,343 (GRCm39)	D599G	probably damaging	Het
Nin	T	C	12: 70,061,567 (GRCm39)	N2099S	probably benign	Het
Nlrc4	T	C	17: 74,754,985 (GRCm39)	D77G	probably benign	Het
Otub1	A	G	19: 7,181,416 (GRCm39)		probably benign	Het
Pabir2	A	T	X: 52,334,208 (GRCm39)	C222S	probably damaging	Het
Pah	A	G	10: 87,406,193 (GRCm39)	Y174C	probably null	Het
Rbbp5	G	A	1: 132,417,444 (GRCm39)	V88I	probably damaging	Het
Scn1a	C	T	2: 66,155,279 (GRCm39)	R560H	probably benign	Het
Snx5	T	C	2: 144,097,485 (GRCm39)	I217V	probably benign	Het
Syne2	T	C	12: 76,036,016 (GRCm39)	S3769P	probably damaging	Het
Tent2	T	C	13: 93,322,905 (GRCm39)	T15A	probably benign	Het
Tmem255b	T	C	8: 13,507,054 (GRCm39)	M261T	probably benign	Het
Top3b	T	C	16: 16,705,486 (GRCm39)	I417T	probably damaging	Het
Tspan2	T	C	3: 102,665,549 (GRCm39)		probably null	Het
Ttn	T	C	2: 76,540,057 (GRCm39)	T34310A	possibly damaging	Het
Ush2a	G	A	1: 188,643,640 (GRCm39)	C4334Y	possibly damaging	Het
Wdpcp	A	G	11: 21,609,995 (GRCm39)	D21G	probably damaging	Het
Yy2	A	C	X: 156,351,207 (GRCm39)	D186E	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
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
IGL02805:Cgn	APN	3	94,681,687 (GRCm39)	missense	probably damaging	0.96
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

2012-12-06