Mutagenetix > Incidental Mutation

Incidental Mutation 'R5487:Ccdc122'

430430

Institutional Source

Beutler Lab

Gene Symbol

Ccdc122

Ensembl Gene

ENSMUSG00000034795

Gene Name

coiled-coil domain containing 122

Synonyms

4933415L06Rik

MMRRC Submission

043048-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5487 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

77274212-77349697 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 77329119 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 57 (H57Q)

Ref Sequence

ENSEMBL: ENSMUSP00000036369 (fasta)

Gene Model

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

AlphaFold

Q8BVN0

Predicted Effect

probably benign
Transcript: ENSMUST00000048208
AA Change: H57Q

PolyPhen 2 Score 0.313 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000036369
Gene: ENSMUSG00000034795
AA Change: H57Q

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: 98.2%
3x: 97.1%
10x: 94.6%
20x: 89.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	A	G	11: 109,844,340 (GRCm39)	V959A	probably damaging	Het
Alg3	A	T	16: 20,426,530 (GRCm39)	I115N	probably damaging	Het
Ash1l	A	G	3: 88,888,733 (GRCm39)	D204G	probably benign	Het
Camta1	C	A	4: 151,229,211 (GRCm39)	E540D	possibly damaging	Het
Cblc	T	C	7: 19,518,733 (GRCm39)	T413A	probably benign	Het
Ccdc85a	A	T	11: 28,526,768 (GRCm39)	L280*	probably null	Het
Cd46	T	G	1: 194,750,478 (GRCm39)		probably null	Het
Cmklr1	C	G	5: 113,752,990 (GRCm39)	D4H	possibly damaging	Het
Dnaaf3	T	C	7: 4,526,864 (GRCm39)		probably null	Het
Dnajb12	GC	G	10: 59,728,574 (GRCm39)		probably null	Het
Ecpas	T	C	4: 58,809,421 (GRCm39)	D1651G	probably benign	Het
Eif2ak1	A	G	5: 143,833,981 (GRCm39)		probably null	Het
Erich4	A	G	7: 25,314,664 (GRCm39)	M83T	probably benign	Het
Fbxo24	C	T	5: 137,617,094 (GRCm39)	G331E	possibly damaging	Het
Fzd4	A	G	7: 89,056,615 (GRCm39)	I221V	probably benign	Het
G6pc2	T	C	2: 69,056,921 (GRCm39)	V189A	probably damaging	Het
Gm10663	A	C	8: 65,527,686 (GRCm39)	E1A	probably null	Het
Gm4871	C	A	5: 144,967,199 (GRCm39)	E178D	probably damaging	Het
Igdcc3	A	G	9: 65,088,866 (GRCm39)	E415G	probably damaging	Het
Kmt2a	A	T	9: 44,733,272 (GRCm39)		probably benign	Het
Krba1	T	C	6: 48,380,973 (GRCm39)	V103A	probably damaging	Het
Lcat	T	C	8: 106,666,296 (GRCm39)	K409E	probably benign	Het
Lrriq4	C	A	3: 30,714,144 (GRCm39)	N497K	probably benign	Het
Mical2	A	G	7: 111,919,842 (GRCm39)	T451A	probably damaging	Het
Noxo1	C	T	17: 24,917,291 (GRCm39)		probably benign	Het
Oas1a	A	G	5: 121,045,490 (GRCm39)	I17T	probably damaging	Het
Otog	A	T	7: 45,938,192 (GRCm39)	Y1967F	probably benign	Het
Pcdha9	A	T	18: 37,132,703 (GRCm39)	N591Y	probably damaging	Het
Plxna4	A	G	6: 32,494,218 (GRCm39)	Y133H	probably damaging	Het
Pou5f2	T	C	13: 78,173,118 (GRCm39)	L20P	probably benign	Het
Prkcb	T	A	7: 122,199,948 (GRCm39)	C586*	probably null	Het
Sema3b	A	T	9: 107,478,161 (GRCm39)	M408K	probably damaging	Het
Serpinf2	G	A	11: 75,324,031 (GRCm39)	T332I	probably damaging	Het
Tmbim1	A	G	1: 74,332,164 (GRCm39)	V121A	probably benign	Het
Tph2	C	T	10: 114,955,779 (GRCm39)	G338D	probably damaging	Het
Trpc2	GTGTCCTA	GTGTCCTATGTCCTA	7: 101,744,420 (GRCm39)		probably null	Het
Ttn	C	T	2: 76,642,896 (GRCm39)	V13247M	probably damaging	Het
Uty	C	T	Y: 1,174,825 (GRCm39)	G192R	probably damaging	Het
Vmn2r65	G	T	7: 84,595,529 (GRCm39)	P385Q	possibly damaging	Het
Wdfy3	G	A	5: 101,984,140 (GRCm39)	R3489W	probably damaging	Het
Zfp750	A	G	11: 121,404,558 (GRCm39)	S106P	probably benign	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
R2442:Ccdc122	UTSW	14	77,329,398 (GRCm39)	missense	possibly damaging	0.89
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
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'- CACCTGCTTTACACATAAGATGC -3'
(R):5'- AGTTCAGTCATAAATGGACATTGGC -3'

Sequencing Primer
(F):5'- GAAATACACAACTCTGAGACTGTTC -3'
(R):5'- AATGGACATTGGCTTTTTATCTCTC -3'

Posted On

2016-10-05