Mutagenetix > Incidental Mutation

Incidental Mutation 'R7408:Cgn'

574834

Institutional Source

Beutler Lab

Gene Symbol

Cgn

Ensembl Gene

ENSMUSG00000068876

Gene Name

cingulin

Synonyms

6330408J11Rik

MMRRC Submission

045489-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7408 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

94667376-94693826 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 94670362 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 1031 (K1031*)

Ref Sequence

ENSEMBL: ENSMUSP00000102894 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000107272
AA Change: K1023*

SMART Domains

Protein: ENSMUSP00000102893
Gene: ENSMUSG00000068876
AA Change: K1023*

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 null
Transcript: ENSMUST00000107273
AA Change: K1031*

SMART Domains

Protein: ENSMUSP00000102894
Gene: ENSMUSG00000068876
AA Change: K1031*

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

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (71/71)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agfg1	T	C	1: 82,860,030 (GRCm39)	F299S	probably damaging	Het
Arhgap32	A	T	9: 32,157,220 (GRCm39)	E72D	probably benign	Het
Arid1a	G	T	4: 133,408,391 (GRCm39)	Q1654K	unknown	Het
Atp6v1f	A	C	6: 29,470,194 (GRCm39)	H96P	probably damaging	Het
Cast	A	G	13: 74,887,960 (GRCm39)	V161A	probably damaging	Het
Ccdc186	A	T	19: 56,796,610 (GRCm39)	C320S	probably damaging	Het
Cnot10	T	C	9: 114,460,894 (GRCm39)	N92S	probably benign	Het
Crat	C	T	2: 30,294,577 (GRCm39)	R497Q	probably benign	Het
Cstf2t	T	C	19: 31,060,593 (GRCm39)	V43A	possibly damaging	Het
D930020B18Rik	T	C	10: 121,525,739 (GRCm39)	L547P	probably damaging	Het
Dennd1a	G	A	2: 37,742,184 (GRCm39)		probably null	Het
Dtnb	T	A	12: 3,694,272 (GRCm39)		probably null	Het
Entpd1	A	G	19: 40,727,309 (GRCm39)	N486D	possibly damaging	Het
Fes	G	A	7: 80,028,410 (GRCm39)	R736C	probably damaging	Het
Galr1	T	G	18: 82,411,990 (GRCm39)	Y292S	probably damaging	Het
Gda	T	A	19: 21,405,988 (GRCm39)	D80V	probably damaging	Het
Ghr	A	G	15: 3,377,054 (GRCm39)	C56R	probably benign	Het
Golgb1	A	G	16: 36,718,909 (GRCm39)	T313A	probably damaging	Het
Gpaa1	A	T	15: 76,217,193 (GRCm39)	D236V	probably damaging	Het
Gsdmc	A	G	15: 63,676,315 (GRCm39)	S43P	probably benign	Het
Gsdmd	A	G	15: 75,738,202 (GRCm39)	E295G	probably damaging	Het
Htatip2	A	G	7: 49,409,534 (GRCm39)	K96R	probably benign	Het
Insm1	T	A	2: 146,064,711 (GRCm39)	F176I	probably benign	Het
Itih1	T	C	14: 30,665,117 (GRCm39)	E36G	probably benign	Het
Jak1	A	G	4: 101,032,379 (GRCm39)	V409A	probably damaging	Het
Knl1	A	G	2: 118,901,073 (GRCm39)	I925V	possibly damaging	Het
Lcmt2	A	G	2: 120,969,185 (GRCm39)	S413P	probably benign	Het
Lmo7	T	C	14: 102,118,389 (GRCm39)	S205P	probably damaging	Het
Lrch3	C	A	16: 32,807,113 (GRCm39)	S462*	probably null	Het
Lrrtm2	T	C	18: 35,346,688 (GRCm39)	I205V	possibly damaging	Het
Mark3	T	G	12: 111,600,223 (GRCm39)	N479K	probably damaging	Het
Mrpl19	C	T	6: 81,942,793 (GRCm39)	G39D	possibly damaging	Het
Msh4	A	G	3: 153,582,382 (GRCm39)	Y497H	probably benign	Het
Msl2	T	A	9: 100,979,316 (GRCm39)	D563E	probably benign	Het
Mta1	G	A	12: 113,095,088 (GRCm39)		probably null	Het
Nalcn	T	A	14: 123,529,272 (GRCm39)	Q1401L	probably benign	Het
Ncapg	T	C	5: 45,853,135 (GRCm39)	L867P	probably benign	Het
Nkapl	T	C	13: 21,652,013 (GRCm39)	D200G	unknown	Het
Nos1	A	C	5: 118,005,583 (GRCm39)	E101A	probably damaging	Het
Npat	T	C	9: 53,481,216 (GRCm39)	S1008P	probably damaging	Het
Ntng1	A	G	3: 109,760,398 (GRCm39)	I358T	probably benign	Het
Or11h6	A	G	14: 50,879,852 (GRCm39)	E32G	probably benign	Het
Or13p4	C	T	4: 118,546,859 (GRCm39)	M263I	probably damaging	Het
Or2d2b	A	G	7: 106,705,274 (GRCm39)	S265P	probably benign	Het
Or4b1	T	A	2: 89,980,188 (GRCm39)	H54L	probably benign	Het
Or6c88	A	G	10: 129,406,493 (GRCm39)		probably benign	Het
Pex1	A	G	5: 3,680,222 (GRCm39)	D948G	probably damaging	Het
Pkd1l2	A	T	8: 117,755,218 (GRCm39)	I1660N	possibly damaging	Het
Pkp2	T	A	16: 16,079,537 (GRCm39)	Y540N	possibly damaging	Het
Pkp4	T	C	2: 59,142,110 (GRCm39)	L471P	probably damaging	Het
Plekhm3	A	T	1: 64,977,143 (GRCm39)	M109K	probably benign	Het
Plekhn1	T	C	4: 156,318,418 (GRCm39)	N68S	probably benign	Het
Pramel7	T	A	2: 87,321,189 (GRCm39)	D282V	possibly damaging	Het
Pxdn	T	C	12: 30,040,944 (GRCm39)	Y407H	probably benign	Het
Rab3ip	T	C	10: 116,773,546 (GRCm39)	D89G	possibly damaging	Het
Rad17	G	A	13: 100,766,019 (GRCm39)	Q370*	probably null	Het
Robo4	T	C	9: 37,322,277 (GRCm39)	C751R	probably benign	Het
Sez6	A	G	11: 77,844,356 (GRCm39)	T60A	probably damaging	Het
Socs4	A	G	14: 47,527,296 (GRCm39)	H77R	probably benign	Het
Srrm3	T	A	5: 135,881,060 (GRCm39)	M120K	probably benign	Het
Steap4	A	T	5: 8,028,453 (GRCm39)	I344F	probably benign	Het
Stk36	T	A	1: 74,672,725 (GRCm39)	F989Y	probably damaging	Het
Toporsl	A	T	4: 52,612,108 (GRCm39)	Q667L	probably benign	Het
Tspan17	T	C	13: 54,937,466 (GRCm39)	F20S	probably benign	Het
Tubgcp3	G	A	8: 12,711,359 (GRCm39)	Q65*	probably null	Het
Ush2a	A	T	1: 188,465,726 (GRCm39)	I2765F	probably benign	Het
Vwa8	A	C	14: 79,219,674 (GRCm39)		probably null	Het
Wdfy4	A	G	14: 32,800,264 (GRCm39)	V1954A		Het
Xrn2	T	A	2: 146,884,017 (GRCm39)		probably null	Het
Zfp687	C	T	3: 94,914,841 (GRCm39)	R1220H	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
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
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

Predicted Primers

PCR Primer
(F):5'- CACAGCTCTACTCTCTATCAGGAC -3'
(R):5'- TCGACAGGACTTGGAGTGTG -3'

Sequencing Primer
(F):5'- TCTACTCTCTATCAGGACCAAGAGGG -3'
(R):5'- GACTTGGAGTGTGACAAAATCTCC -3'

Posted On

2019-10-07