Mutagenetix > Incidental Mutations

Incidental Mutation 'R0585:Ccdc162'

55721

Institutional Source

Beutler Lab

Gene Symbol

Ccdc162

Ensembl Gene

ENSMUSG00000075225

Gene Name

coiled-coil domain containing 162

Synonyms

5033413D22Rik

MMRRC Submission

038775-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R0585 (G1)

Quality Score

213

Status

Validated

Chromosome

Chromosomal Location

41538846-41716634 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 41586379 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 1474 (C1474Y)

Ref Sequence

ENSEMBL: ENSMUSP00000140774 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019955] [ENSMUST00000099932] [ENSMUST00000179614] [ENSMUST00000189488] [ENSMUST00000219054]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000019955

SMART Domains

Protein: ENSMUSP00000019955
Gene: ENSMUSG00000075225

Domain	Start	End	E-Value	Type
coiled coil region	1	37	N/A	INTRINSIC
low complexity region	116	138	N/A	INTRINSIC
coiled coil region	177	217	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000099932
AA Change: C11Y

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

SMART Domains

Protein: ENSMUSP00000097516
Gene: ENSMUSG00000075225
AA Change: C11Y

Domain	Start	End	E-Value	Type
coiled coil region	327	366	N/A	INTRINSIC
low complexity region	490	512	N/A	INTRINSIC
coiled coil region	551	607	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160751

Predicted Effect

probably benign
Transcript: ENSMUST00000179614
AA Change: C201Y

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000135966
Gene: ENSMUSG00000075225
AA Change: C201Y

Domain	Start	End	E-Value	Type
coiled coil region	517	556	N/A	INTRINSIC
low complexity region	680	702	N/A	INTRINSIC
coiled coil region	741	797	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000189488
AA Change: C1474Y

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000140774
Gene: ENSMUSG00000075225
AA Change: C1474Y

Domain	Start	End	E-Value	Type
low complexity region	328	347	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000219054
AA Change: C201Y

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.2%

Validation Efficiency

100% (38/38)

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931409K22Rik	A	G	5: 24,550,723	V267A	probably benign	Het
9530003J23Rik	T	A	10: 117,238,451	I44F	possibly damaging	Het
Brdt	T	G	5: 107,356,882		probably null	Het
Ces2e	T	C	8: 104,929,821	S228P	probably damaging	Het
Clca1	G	T	3: 145,032,625	H41N	probably benign	Het
Cyp2c39	A	T	19: 39,536,759	I169F	probably benign	Het
Cyp2c65	A	G	19: 39,069,242	K107R	probably benign	Het
Cyp2c67	T	A	19: 39,638,694	N231Y	possibly damaging	Het
Eps8l3	G	C	3: 107,881,197	D33H	probably damaging	Het
Evi5	T	C	5: 107,813,536		probably benign	Het
Fcho1	T	C	8: 71,715,725	Y218C	probably damaging	Het
Gm3993	T	A	12: 20,072,148		probably null	Het
Gtf2ird1	A	C	5: 134,376,942	L28R	probably damaging	Het
Hsf4	A	G	8: 105,271,031	D75G	probably damaging	Het
Larp4b	A	G	13: 9,147,493	T249A	probably damaging	Het
Larp4b	A	G	13: 9,170,701	D578G	probably benign	Het
Matn3	A	T	12: 8,961,103		probably benign	Het
Myo10	T	A	15: 25,736,455	Y428N	probably damaging	Het
Nf1	T	A	11: 79,568,701	D661E	probably damaging	Het
Nktr	A	G	9: 121,754,280		probably benign	Het
Npbwr1	G	A	1: 5,916,458	T279I	possibly damaging	Het
Olfr665	A	C	7: 104,881,499	H264P	probably damaging	Het
Osmr	T	C	15: 6,837,793	I341V	probably benign	Het
Pan2	T	C	10: 128,310,515		probably null	Het
Pknox2	G	A	9: 36,909,760		probably benign	Het
Pla2g2d	A	C	4: 138,779,393	D50A	probably benign	Het
Ptprk	C	T	10: 28,575,668	L1051F	probably damaging	Het
Rap1gds1	G	A	3: 139,021,872	T59M	probably benign	Het
Rps5	T	C	7: 12,925,405	V41A	possibly damaging	Het
Ryr1	G	T	7: 29,036,076	D4092E	probably damaging	Het
Spic	T	C	10: 88,676,043	Y117C	probably damaging	Het
Thrap3	A	T	4: 126,178,574		probably null	Het
Tlr9	C	T	9: 106,225,076	T522I	probably benign	Het
Tspan3	A	T	9: 56,145,932		probably benign	Het
Ttn	T	C	2: 76,873,159		probably benign	Het
Zfp773	T	A	7: 7,132,575	I341L	probably benign	Het
Zmat3	G	A	3: 32,361,105	P19S	probably damaging	Het

Other mutations in Ccdc162

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01013:Ccdc162	APN	10	41581339	missense	probably benign	0.01
IGL01366:Ccdc162	APN	10	41580306	missense	possibly damaging	0.49
IGL01924:Ccdc162	APN	10	41569887	missense	probably damaging	1.00
IGL02504:Ccdc162	APN	10	41552388	missense	probably damaging	1.00
IGL02678:Ccdc162	APN	10	41561155	missense	probably damaging	0.99
IGL02955:Ccdc162	APN	10	41561127	missense	probably damaging	1.00
beeswax	UTSW	10	41561226	missense	possibly damaging	0.57
honeycomb	UTSW	10	41644641	missense	probably benign	0.35
FR4304:Ccdc162	UTSW	10	41556121	missense	possibly damaging	0.49
R0432:Ccdc162	UTSW	10	41541860	missense	probably benign	0.01
R0645:Ccdc162	UTSW	10	41586411	splice site	probably benign
R0731:Ccdc162	UTSW	10	41579143	missense	probably damaging	1.00
R1426:Ccdc162	UTSW	10	41553182	missense	possibly damaging	0.89
R1447:Ccdc162	UTSW	10	41580247	missense	probably damaging	1.00
R1712:Ccdc162	UTSW	10	41539431	missense	probably benign	0.35
R2138:Ccdc162	UTSW	10	41581297	missense	probably benign	0.15
R2351:Ccdc162	UTSW	10	41555972	critical splice donor site	probably null
R2394:Ccdc162	UTSW	10	41569898	missense	probably damaging	1.00
R2431:Ccdc162	UTSW	10	41569845	missense	probably benign
R2571:Ccdc162	UTSW	10	41552397	missense	probably damaging	1.00
R2873:Ccdc162	UTSW	10	41655099	missense	possibly damaging	0.68
R2926:Ccdc162	UTSW	10	41561207	start gained	probably benign
R2999:Ccdc162	UTSW	10	41580290	missense	probably benign	0.00
R3412:Ccdc162	UTSW	10	41539549	splice site	probably benign
R3712:Ccdc162	UTSW	10	41587379	missense	probably benign
R3736:Ccdc162	UTSW	10	41589568	splice site	probably null
R4112:Ccdc162	UTSW	10	41656328	missense	possibly damaging	0.77
R4557:Ccdc162	UTSW	10	41587388	missense	probably benign	0.01
R4580:Ccdc162	UTSW	10	41561140	missense	probably benign	0.02
R4685:Ccdc162	UTSW	10	41681686	missense	possibly damaging	0.89
R4837:Ccdc162	UTSW	10	41673867	missense	probably benign	0.00
R5155:Ccdc162	UTSW	10	41553580	splice site	probably null
R5155:Ccdc162	UTSW	10	41579151	missense	probably damaging	1.00
R5645:Ccdc162	UTSW	10	41552356	missense	probably benign	0.06
R5656:Ccdc162	UTSW	10	41569934	missense	probably benign	0.26
R5682:Ccdc162	UTSW	10	41556803	nonsense	probably null
R5808:Ccdc162	UTSW	10	41655504	missense	possibly damaging	0.62
R5909:Ccdc162	UTSW	10	41561115	missense	probably damaging	1.00
R6000:Ccdc162	UTSW	10	41561163	missense	possibly damaging	0.75
R6057:Ccdc162	UTSW	10	41634041	missense	possibly damaging	0.72
R6211:Ccdc162	UTSW	10	41630145	nonsense	probably null
R6264:Ccdc162	UTSW	10	41694468	missense	probably benign	0.31
R6329:Ccdc162	UTSW	10	41663151	missense	possibly damaging	0.76
R6349:Ccdc162	UTSW	10	41694400	missense	probably damaging	0.97
R6398:Ccdc162	UTSW	10	41627149	missense	probably damaging	1.00
R6453:Ccdc162	UTSW	10	41550825	missense	probably damaging	1.00
R6602:Ccdc162	UTSW	10	41615980	missense	probably benign	0.00
R6627:Ccdc162	UTSW	10	41663185	missense	probably damaging	1.00
R6722:Ccdc162	UTSW	10	41644641	missense	probably benign	0.35
R6750:Ccdc162	UTSW	10	41561226	missense	possibly damaging	0.57
R6968:Ccdc162	UTSW	10	41673844	missense	possibly damaging	0.55
R6970:Ccdc162	UTSW	10	41615958	missense	probably benign	0.03
R6989:Ccdc162	UTSW	10	41581353	missense	probably damaging	0.99
R7008:Ccdc162	UTSW	10	41552415	missense	probably damaging	1.00
R7135:Ccdc162	UTSW	10	41673859	missense	probably benign	0.00
R7139:Ccdc162	UTSW	10	41666721	missense	possibly damaging	0.49
R7224:Ccdc162	UTSW	10	41561191	missense	probably damaging	1.00
R7230:Ccdc162	UTSW	10	41678813	missense	probably damaging	1.00
R7256:Ccdc162	UTSW	10	41556001	missense	probably damaging	0.99
R7261:Ccdc162	UTSW	10	41561140	missense	probably benign	0.02
R7390:Ccdc162	UTSW	10	41634048	missense	probably benign
R7712:Ccdc162	UTSW	10	41627227	missense	possibly damaging	0.56
R7726:Ccdc162	UTSW	10	41553075	missense	probably benign	0.00
R7754:Ccdc162	UTSW	10	41587375	missense	probably damaging	1.00
R7764:Ccdc162	UTSW	10	41690113	missense	possibly damaging	0.95
R8053:Ccdc162	UTSW	10	41644581	missense	probably benign
R8088:Ccdc162	UTSW	10	41623414	missense	possibly damaging	0.68
R8094:Ccdc162	UTSW	10	41612868	missense	probably benign	0.02
R8097:Ccdc162	UTSW	10	41634119	missense	probably benign	0.03
R8377:Ccdc162	UTSW	10	41581310	missense	probably benign	0.08
R8399:Ccdc162	UTSW	10	41539521	missense	probably damaging	1.00
R8669:Ccdc162	UTSW	10	41552356	missense	probably benign	0.06
R8772:Ccdc162	UTSW	10	41630037	missense	probably damaging	0.99
R8810:Ccdc162	UTSW	10	41666741	missense	probably benign	0.41
R8903:Ccdc162	UTSW	10	41655444	critical splice donor site	probably null
R8928:Ccdc162	UTSW	10	41586249	splice site	probably benign
R8950:Ccdc162	UTSW	10	41598511	missense	probably benign	0.00
R8960:Ccdc162	UTSW	10	41553182	missense	probably damaging	0.96
R8985:Ccdc162	UTSW	10	41556106	missense	probably damaging	1.00
R9071:Ccdc162	UTSW	10	41581178	nonsense	probably null
R9254:Ccdc162	UTSW	10	41612948	critical splice acceptor site	probably null
R9297:Ccdc162	UTSW	10	41630114	missense	probably benign
R9318:Ccdc162	UTSW	10	41630114	missense	probably benign
Z1176:Ccdc162	UTSW	10	41553131	missense	probably benign	0.00
Z1176:Ccdc162	UTSW	10	41605108	missense	possibly damaging	0.84
Z1176:Ccdc162	UTSW	10	41654997	missense	possibly damaging	0.84
Z1176:Ccdc162	UTSW	10	41690092	missense	probably benign	0.00
Z1177:Ccdc162	UTSW	10	41683195	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GGTTCTTGAGTACAGTGCAGCACC -3'
(R):5'- TGGGGCAAGGCTGGCAATACATTC -3'

Sequencing Primer
(F):5'- ACCAGCCACTCTGTAGCC -3'
(R):5'- TGAAGgtttttttgtttgtttgtttg -3'

Posted On

2013-07-11