Mutagenetix > Incidental Mutation

Incidental Mutation 'R2442:Ccdc122'

249836

Institutional Source

Beutler Lab

Gene Symbol

Ccdc122

Ensembl Gene

ENSMUSG00000034795

Gene Name

coiled-coil domain containing 122

Synonyms

4933415L06Rik

MMRRC Submission

040400-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2442 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

77274212-77349697 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 77329398 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 150 (M150I)

Ref Sequence

ENSEMBL: ENSMUSP00000036369 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048208] [ENSMUST00000095625] [ENSMUST00000175810]

AlphaFold

Q8BVN0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000048208
AA Change: M150I

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000036369
Gene: ENSMUSG00000034795
AA Change: M150I

Domain	Start	End	E-Value	Type
coiled coil region	33	102	N/A	INTRINSIC
coiled coil region	152	182	N/A	INTRINSIC
coiled coil region	209	279	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000095625

SMART Domains

Protein: ENSMUSP00000093285
Gene: ENSMUSG00000034795

Domain	Start	End	E-Value	Type
coiled coil region	68	107	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000175810

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	A	G	17: 24,547,606 (GRCm39)	V256A	probably benign	Het
Acap1	T	C	11: 69,780,317 (GRCm39)	N42S	possibly damaging	Het
Apoo-ps	C	A	13: 107,551,140 (GRCm39)		noncoding transcript	Het
Bri3	C	T	5: 144,181,411 (GRCm39)	T39I	probably benign	Het
Bsn	A	G	9: 107,984,119 (GRCm39)	S3312P	unknown	Het
Camkmt	C	A	17: 85,398,203 (GRCm39)	A17E	possibly damaging	Het
Cc2d2a	G	T	5: 43,828,647 (GRCm39)		probably null	Het
Celf4	A	G	18: 25,886,516 (GRCm39)	F57L	probably damaging	Het
Cep192	T	A	18: 67,957,759 (GRCm39)	F564Y	possibly damaging	Het
Ces1c	T	C	8: 93,849,840 (GRCm39)	D38G	probably damaging	Het
Cts7	C	A	13: 61,503,431 (GRCm39)	G178*	probably null	Het
Dcc	A	T	18: 71,589,954 (GRCm39)	Y681N	probably damaging	Het
Dhx29	A	G	13: 113,083,508 (GRCm39)	E521G	possibly damaging	Het
Dnase2a	T	C	8: 85,635,622 (GRCm39)	V35A	probably damaging	Het
Eif3l	A	G	15: 78,969,807 (GRCm39)	M268V	probably damaging	Het
Foxc1	A	G	13: 31,992,781 (GRCm39)	M531V	unknown	Het
Grin2c	A	G	11: 115,141,960 (GRCm39)	Y820H	probably damaging	Het
Ifit1bl1	G	A	19: 34,572,289 (GRCm39)	A56V	probably benign	Het
Iqsec1	T	C	6: 90,666,865 (GRCm39)	E524G	possibly damaging	Het
Kcnt2	A	G	1: 140,304,091 (GRCm39)	I154V	possibly damaging	Het
Kdm1b	T	A	13: 47,216,451 (GRCm39)	Y274N	probably benign	Het
Kntc1	T	A	5: 123,948,922 (GRCm39)	L1889Q	probably damaging	Het
Lama1	A	G	17: 68,075,312 (GRCm39)	T1010A	probably benign	Het
Mmp11	T	C	10: 75,763,079 (GRCm39)	N171S	probably benign	Het
Myom1	A	G	17: 71,417,730 (GRCm39)	E1409G	probably damaging	Het
N4bp1	A	G	8: 87,588,668 (GRCm39)	I90T	probably damaging	Het
Or4c52	T	C	2: 89,845,685 (GRCm39)	V137A	probably benign	Het
Plcb4	T	C	2: 135,792,302 (GRCm39)	S342P	probably damaging	Het
Plg	A	G	17: 12,629,847 (GRCm39)	E627G	probably benign	Het
Rsf1	CG	CGACGGCGGAG	7: 97,229,115 (GRCm39)		probably benign	Het
Sla2	G	A	2: 156,717,862 (GRCm39)	R137C	probably damaging	Het
Slc7a14	A	G	3: 31,284,469 (GRCm39)	I289T	probably damaging	Het
Srpra	G	A	9: 35,123,297 (GRCm39)	G43S	possibly damaging	Het
Tbc1d9	T	C	8: 83,892,705 (GRCm39)	M1T	probably null	Het
Tcte2	A	T	17: 13,934,339 (GRCm39)	I90N	possibly damaging	Het
Trim30c	G	A	7: 104,031,481 (GRCm39)	P445S	probably damaging	Het
Trrap	A	G	5: 144,754,776 (GRCm39)	Q1984R	probably damaging	Het
Ubn2	T	C	6: 38,467,940 (GRCm39)	S885P	probably benign	Het
Unc45a	A	G	7: 79,989,417 (GRCm39)	F17S	probably damaging	Het
Uts2b	C	T	16: 27,179,782 (GRCm39)	V75I	probably benign	Het
Vmn2r103	A	G	17: 19,993,793 (GRCm39)	K57E	probably benign	Het
Vmn2r82	A	G	10: 79,221,210 (GRCm39)	S524G	probably damaging	Het

Other mutations in Ccdc122

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00341:Ccdc122	APN	14	77,329,179 (GRCm39)	missense	probably benign	0.02
IGL01307:Ccdc122	APN	14	77,329,516 (GRCm39)	splice site	probably benign
IGL02585:Ccdc122	APN	14	77,330,202 (GRCm39)	splice site	probably benign
IGL03376:Ccdc122	APN	14	77,306,352 (GRCm39)	missense	probably damaging	1.00
R0724:Ccdc122	UTSW	14	77,329,517 (GRCm39)	splice site	probably benign
R0732:Ccdc122	UTSW	14	77,329,199 (GRCm39)	missense	probably damaging	0.99
R1123:Ccdc122	UTSW	14	77,305,351 (GRCm39)	missense	probably damaging	1.00
R1528:Ccdc122	UTSW	14	77,305,379 (GRCm39)	missense	possibly damaging	0.87
R1860:Ccdc122	UTSW	14	77,348,847 (GRCm39)	missense	probably damaging	1.00
R2072:Ccdc122	UTSW	14	77,306,391 (GRCm39)	critical splice donor site	probably null
R2074:Ccdc122	UTSW	14	77,306,391 (GRCm39)	critical splice donor site	probably null
R2075:Ccdc122	UTSW	14	77,306,391 (GRCm39)	critical splice donor site	probably null
R2421:Ccdc122	UTSW	14	77,329,103 (GRCm39)	splice site	probably benign
R4798:Ccdc122	UTSW	14	77,349,047 (GRCm39)	utr 3 prime	probably benign
R4973:Ccdc122	UTSW	14	77,305,381 (GRCm39)	missense	possibly damaging	0.92
R5487:Ccdc122	UTSW	14	77,329,119 (GRCm39)	missense	probably benign	0.31
R5576:Ccdc122	UTSW	14	77,329,317 (GRCm39)	missense	probably benign	0.24
R5630:Ccdc122	UTSW	14	77,330,216 (GRCm39)	missense	probably damaging	1.00
R6502:Ccdc122	UTSW	14	77,279,509 (GRCm39)	splice site	probably null
R6833:Ccdc122	UTSW	14	77,326,371 (GRCm39)	critical splice acceptor site	probably benign
R7585:Ccdc122	UTSW	14	77,329,139 (GRCm39)	missense	probably damaging	0.96
R7598:Ccdc122	UTSW	14	77,349,006 (GRCm39)	missense	probably benign	0.00
R7774:Ccdc122	UTSW	14	77,305,379 (GRCm39)	missense	probably benign	0.00
R8170:Ccdc122	UTSW	14	77,329,318 (GRCm39)	missense	probably benign	0.01
R9515:Ccdc122	UTSW	14	77,329,408 (GRCm39)	missense
R9546:Ccdc122	UTSW	14	77,306,313 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AACTCTAAACTTCAGTGTGGACG -3'
(R):5'- AGTTCCTGAATGTAGAGCTATACAC -3'

Sequencing Primer
(F):5'- CTCTAAACTTCAGTGTGGACGCTTAG -3'
(R):5'- AGGGCTTGACAAGTAGCA -3'

Posted On

2014-11-12