Mutagenetix > Incidental Mutation

Incidental Mutation 'R1794:Cgn'

202026

Institutional Source

Beutler Lab

Gene Symbol

Cgn

Ensembl Gene

ENSMUSG00000068876

Gene Name

cingulin

Synonyms

6330408J11Rik

MMRRC Submission

039824-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1794 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

94667376-94693826 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 94669864 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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

SMART Domains

Protein: ENSMUSP00000102893
Gene: ENSMUSG00000068876

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

SMART Domains

Protein: ENSMUSP00000102894
Gene: ENSMUSG00000068876

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

noncoding transcript
Transcript: ENSMUST00000118050

Coding Region Coverage

1x: 97.4%
3x: 96.7%
10x: 94.8%
20x: 91.1%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anxa7	A	G	14: 20,521,535 (GRCm39)	Y54H	unknown	Het
Arhgef3	A	G	14: 27,119,562 (GRCm39)	T331A	probably benign	Het
Arhgef40	G	T	14: 52,227,387 (GRCm39)	C477F	possibly damaging	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Atp13a5	C	A	16: 29,140,527 (GRCm39)	R343L	probably damaging	Het
Brdt	ACAGCAGCAGCAGCAGC	ACAGCAGCAGCAGC	5: 107,507,719 (GRCm39)		probably benign	Het
Btbd2	G	T	10: 80,479,747 (GRCm39)	D426E	probably damaging	Het
Cabin1	A	C	10: 75,561,579 (GRCm39)	I974R	possibly damaging	Het
Cacna1i	G	A	15: 80,273,323 (GRCm39)	V1670M	probably damaging	Het
Cc2d2a	C	A	5: 43,845,594 (GRCm39)	Q288K	probably damaging	Het
Ccl20	T	A	1: 83,095,550 (GRCm39)	I37K	possibly damaging	Het
Cdcp1	A	G	9: 123,019,159 (GRCm39)	V40A	probably benign	Het
Cdcp1	T	C	9: 123,044,896 (GRCm39)	T27A	probably benign	Het
Cdh4	C	T	2: 179,528,635 (GRCm39)	T581I	probably damaging	Het
Col7a1	G	A	9: 108,794,996 (GRCm39)	G1493D	unknown	Het
Creb3	A	G	4: 43,563,302 (GRCm39)	E133G	probably benign	Het
Dchs1	T	C	7: 105,420,927 (GRCm39)	T498A	probably benign	Het
Dis3l	A	C	9: 64,225,058 (GRCm39)	V413G	possibly damaging	Het
Dnah6	T	C	6: 73,001,941 (GRCm39)	E3865G	probably damaging	Het
Fam219b	A	G	9: 57,446,564 (GRCm39)	Y139C	probably damaging	Het
Fat3	A	T	9: 15,908,432 (GRCm39)	Y2523*	probably null	Het
Fat3	A	T	9: 15,908,434 (GRCm39)	Y2523N	probably benign	Het
Fmnl1	T	C	11: 103,087,973 (GRCm39)	S40P	probably benign	Het
Gm4792	T	C	10: 94,134,352 (GRCm39)	D6G	unknown	Het
Hhat	G	T	1: 192,376,214 (GRCm39)	Y306*	probably null	Het
Hmcn1	A	G	1: 150,474,036 (GRCm39)	I4802T	probably benign	Het
Hmcn1	G	A	1: 150,502,903 (GRCm39)	T3908I	probably damaging	Het
Hsph1	A	T	5: 149,554,238 (GRCm39)	N79K	probably damaging	Het
Ikbke	T	A	1: 131,186,955 (GRCm39)	Y579F	probably damaging	Het
Jak2	A	G	19: 29,276,957 (GRCm39)	D838G	probably benign	Het
Klhdc7b	T	C	15: 89,271,223 (GRCm39)	S702P	probably benign	Het
Lingo3	C	A	10: 80,671,432 (GRCm39)	R166L	probably benign	Het
Lins1	T	C	7: 66,361,657 (GRCm39)	F436S	probably damaging	Het
Lman1	T	C	18: 66,124,755 (GRCm39)	D328G	probably benign	Het
Lox	A	G	18: 52,661,379 (GRCm39)	C232R	probably damaging	Het
Lrrc59	T	C	11: 94,529,421 (GRCm39)	V165A	probably benign	Het
Map9	A	G	3: 82,287,528 (GRCm39)	D50G	probably damaging	Het
Marchf1	T	A	8: 66,839,594 (GRCm39)	Y126N	possibly damaging	Het
Mcf2l	T	C	8: 12,965,982 (GRCm39)	F3L	probably benign	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Nin	G	A	12: 70,090,569 (GRCm39)	Q949*	probably null	Het
Nlgn3	A	G	X: 100,363,639 (GRCm39)	H636R	probably benign	Het
Notch2	A	G	3: 98,006,863 (GRCm39)	D411G	possibly damaging	Het
Or4c52	A	G	2: 89,845,364 (GRCm39)	Y30C	probably damaging	Het
Or5b24	G	C	19: 12,912,332 (GRCm39)	A77P	probably damaging	Het
Pate7	T	A	9: 35,688,418 (GRCm39)	I56F	probably benign	Het
Plekha7	A	G	7: 115,739,916 (GRCm39)	V579A	probably damaging	Het
Prrc2c	T	C	1: 162,533,528 (GRCm39)		probably benign	Het
Rab7b	T	C	1: 131,624,806 (GRCm39)		probably null	Het
Reg3b	G	T	6: 78,349,197 (GRCm39)		probably null	Het
Rgs20	A	G	1: 4,980,795 (GRCm39)	Y177H	probably damaging	Het
Ripk3	G	T	14: 56,022,786 (GRCm39)	N379K	probably benign	Het
Rnf220	G	T	4: 117,164,765 (GRCm39)	Q7K	probably benign	Het
Ros1	T	A	10: 52,000,199 (GRCm39)	K1109*	probably null	Het
Slc22a7	T	G	17: 46,744,079 (GRCm39)	R460S	probably damaging	Het
Slc4a2	A	G	5: 24,644,326 (GRCm39)	M975V	probably damaging	Het
Slc4a3	A	T	1: 75,533,952 (GRCm39)	I1100F	probably damaging	Het
Smco1	A	G	16: 32,092,950 (GRCm39)	E207G	probably benign	Het
Snrnp200	A	G	2: 127,058,656 (GRCm39)	E369G	probably benign	Het
Spata31d1e	T	C	13: 59,890,434 (GRCm39)	E44G	probably benign	Het
Tcf4	T	A	18: 69,790,924 (GRCm39)	M178K	probably benign	Het
Tex2	T	C	11: 106,458,728 (GRCm39)		probably benign	Het
Tjp1	A	T	7: 64,972,877 (GRCm39)	I521N	probably damaging	Het
Tmem203	A	G	2: 25,146,006 (GRCm39)	T109A	probably benign	Het
Tmem50b	T	C	16: 91,374,917 (GRCm39)	I126V	probably benign	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Ush2a	T	C	1: 188,595,006 (GRCm39)	F3813L	probably benign	Het
Vmn1r203	C	T	13: 22,708,521 (GRCm39)	R101W	probably damaging	Het
Vmn2r79	G	A	7: 86,650,621 (GRCm39)	V136I	probably benign	Het
Wdr38	A	G	2: 38,890,741 (GRCm39)	Y205C	probably damaging	Het
Zfp248	A	G	6: 118,406,264 (GRCm39)	F442L	probably damaging	Het
Znrf4	A	G	17: 56,818,599 (GRCm39)	I236T	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
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

Predicted Primers

PCR Primer
(F):5'- ACCTTAACCTATTTGGCTATTTGGC -3'
(R):5'- CTTTGGAGGCAGTACAGTGC -3'

Sequencing Primer
(F):5'- GCCTCTAAACACATGTGCACATTTG -3'
(R):5'- GCAGTACAGTGCTAAGTAAAGACTTC -3'

Posted On

2014-06-23