Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01781:Cgn'

153913

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 #

IGL01781

Quality Score

Status

Chromosome

Chromosomal Location

94667376-94693826 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 94680515 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 596 (M596V)

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: M588V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000102893
Gene: ENSMUSG00000068876
AA Change: M588V

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: M596V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000102894
Gene: ENSMUSG00000068876
AA Change: M596V

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,349,280 (GRCm39)	I3618N	probably damaging	Het
Acss1	A	G	2: 150,479,792 (GRCm39)	L305P	probably damaging	Het
Alox12e	A	T	11: 70,212,282 (GRCm39)	L132Q	probably damaging	Het
Atp6v0a4	T	C	6: 38,051,095 (GRCm39)	N428D	possibly damaging	Het
Ccdc80	C	T	16: 44,946,493 (GRCm39)	H811Y	probably damaging	Het
Cpn1	T	A	19: 43,954,657 (GRCm39)	E323V	possibly damaging	Het
Cul9	A	G	17: 46,850,230 (GRCm39)	S447P	probably benign	Het
Cyp2f2	A	T	7: 26,829,846 (GRCm39)	Y182F	probably benign	Het
Dnajc13	T	C	9: 104,039,558 (GRCm39)	M2104V	possibly damaging	Het
Eri3	T	C	4: 117,421,874 (GRCm39)	F51L	probably benign	Het
Fgd5	A	G	6: 91,965,698 (GRCm39)	S486G	possibly damaging	Het
Fhdc1	G	A	3: 84,352,042 (GRCm39)	A1061V	possibly damaging	Het
Ifna4	T	C	4: 88,760,389 (GRCm39)	S98P	probably damaging	Het
Impg2	A	G	16: 56,072,588 (GRCm39)	K340R	probably benign	Het
Man2b2	T	C	5: 36,971,089 (GRCm39)	N759S	possibly damaging	Het
Mfsd1	A	G	3: 67,495,244 (GRCm39)		probably benign	Het
Or2d36	T	A	7: 106,746,903 (GRCm39)	C127S	probably damaging	Het
Pdcd6ip	G	T	9: 113,520,566 (GRCm39)	N139K	probably damaging	Het
Peak1	A	T	9: 56,167,349 (GRCm39)	I193N	possibly damaging	Het
Pip4p2	T	C	4: 14,893,566 (GRCm39)	L143S	probably damaging	Het
Pramel28	C	A	4: 143,692,299 (GRCm39)	C234F	probably benign	Het
Psg27	T	A	7: 18,298,989 (GRCm39)	T111S	probably damaging	Het
Ptprs	G	A	17: 56,742,676 (GRCm39)	L489F	probably damaging	Het
Rpgrip1l	A	G	8: 91,996,846 (GRCm39)	V76A	probably benign	Het
Scd1	A	T	19: 44,388,787 (GRCm39)	M221K	possibly damaging	Het
Slc38a7	A	G	8: 96,570,386 (GRCm39)		probably null	Het
Spon2	T	C	5: 33,372,904 (GRCm39)	D266G	probably benign	Het
Spry4	C	T	18: 38,723,478 (GRCm39)	G95D	probably damaging	Het
Supt20	A	G	3: 54,602,626 (GRCm39)	M1V	probably null	Het
Trappc11	A	C	8: 47,967,163 (GRCm39)	F404V	possibly damaging	Het
Vmn1r178	C	A	7: 23,593,434 (GRCm39)	Q161K	probably damaging	Het
Vmn2r25	T	C	6: 123,816,324 (GRCm39)	E419G	possibly damaging	Het
Vstm5	A	G	9: 15,168,968 (GRCm39)	H146R	probably damaging	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
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

2014-02-04