Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00228:Cgn'

2462

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 #

IGL00228

Quality Score

Status

Chromosome

Chromosomal Location

94667376-94693826 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 94672855 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 941 (N941S)

Ref Sequence

ENSEMBL: ENSMUSP00000102894 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000107272
AA Change: N933S

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

SMART Domains

Protein: ENSMUSP00000102893
Gene: ENSMUSG00000068876
AA Change: N933S

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: N941S

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000102894
Gene: ENSMUSG00000068876
AA Change: N941S

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts6	G	A	13: 104,566,298 (GRCm39)	G731D	possibly damaging	Het
Adgre4	C	T	17: 56,109,135 (GRCm39)	L381F	probably damaging	Het
Baz2a	A	G	10: 127,960,804 (GRCm39)	T1538A	probably benign	Het
C1qtnf6	T	C	15: 78,409,094 (GRCm39)	Y251C	probably damaging	Het
Clca4b	T	C	3: 144,638,152 (GRCm39)	I37V	probably benign	Het
Crtc1	T	C	8: 70,892,172 (GRCm39)	K13E	probably benign	Het
Cubn	A	G	2: 13,461,508 (GRCm39)	L673P	probably damaging	Het
Cyp4f18	C	T	8: 72,743,771 (GRCm39)	V395I	probably damaging	Het
Def8	A	G	8: 124,186,389 (GRCm39)	D400G	possibly damaging	Het
Dvl1	A	G	4: 155,938,155 (GRCm39)	D101G	possibly damaging	Het
Fbxw20	T	A	9: 109,063,770 (GRCm39)	M1L	probably damaging	Het
Gad2	C	T	2: 22,575,398 (GRCm39)	H501Y	probably benign	Het
Herc3	C	T	6: 58,851,248 (GRCm39)	P499L	probably damaging	Het
Kcnq4	G	A	4: 120,555,213 (GRCm39)	Q657*	probably null	Het
Kyat3	G	A	3: 142,432,018 (GRCm39)	V249I	probably damaging	Het
Med28	A	G	5: 45,680,812 (GRCm39)	E92G	probably damaging	Het
Mtcl3	T	A	10: 29,072,469 (GRCm39)	L587*	probably null	Het
Nup155	T	C	15: 8,150,939 (GRCm39)		probably benign	Het
Nxf1	T	C	19: 8,740,106 (GRCm39)	I91T	possibly damaging	Het
Or8g50	T	C	9: 39,648,795 (GRCm39)	I228T	probably damaging	Het
Orc5	T	A	5: 22,728,537 (GRCm39)	T305S	probably damaging	Het
Psme4	T	C	11: 30,765,710 (GRCm39)		probably null	Het
Rtca	A	G	3: 116,298,110 (GRCm39)	C100R	probably damaging	Het
Septin14	G	T	5: 129,760,715 (GRCm39)	H377N	probably benign	Het
Shcbp1l	A	T	1: 153,311,553 (GRCm39)	N258I	possibly damaging	Het
Shisa4	A	C	1: 135,301,023 (GRCm39)	S82R	probably damaging	Het
Slc38a10	C	T	11: 120,029,814 (GRCm39)	V167M	probably damaging	Het
Sp2	C	T	11: 96,845,387 (GRCm39)	R578H	probably damaging	Het
Spata18	G	A	5: 73,815,097 (GRCm39)	E69K	possibly damaging	Het
Srsf2	A	C	11: 116,743,096 (GRCm39)		probably benign	Het
Taf1b	T	A	12: 24,597,066 (GRCm39)	V335E	possibly damaging	Het
Tenm4	G	A	7: 96,517,216 (GRCm39)	V1399I	probably benign	Het
Topbp1	C	T	9: 103,222,142 (GRCm39)	R1338C	probably benign	Het
Ugt1a5	A	G	1: 88,094,162 (GRCm39)	E130G	probably benign	Het
Wdfy2	T	A	14: 63,181,526 (GRCm39)	S219T	probably damaging	Het
Zbtb38	C	A	9: 96,569,547 (GRCm39)	R512S	probably damaging	Het
Zfp574	T	C	7: 24,781,015 (GRCm39)	V679A	probably benign	Het

Other mutations in Cgn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

2011-12-09