Mutagenetix > Incidental Mutation

Incidental Mutation 'R7754:Ccdc162'

597450

Institutional Source

Beutler Lab

Gene Symbol

Ccdc162

Ensembl Gene

ENSMUSG00000075225

Gene Name

coiled-coil domain containing 162

Synonyms

5033413D22Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

R7754 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

41538846-41716634 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 41587375 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 1457 (P1457Q)

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

SMART Domains

Protein: ENSMUSP00000097516
Gene: ENSMUSG00000075225

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

probably damaging
Transcript: ENSMUST00000179614
AA Change: P184Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000135966
Gene: ENSMUSG00000075225
AA Change: P184Q

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 damaging
Transcript: ENSMUST00000189488
AA Change: P1457Q

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000140774
Gene: ENSMUSG00000075225
AA Change: P1457Q

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000219054
AA Change: P184Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (66/66)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110051M20Rik	A	T	2: 91,304,843		probably null	Het
2410089E03Rik	C	A	15: 8,243,826	Q2534K	possibly damaging	Het
4930553M12Rik	A	T	4: 88,868,259	W41R	unknown	Het
Aatf	G	A	11: 84,511,509	S117L	possibly damaging	Het
Abca12	C	A	1: 71,302,887	V972L	probably benign	Het
Abcb11	T	A	2: 69,286,818	R495S	probably damaging	Het
Acss2	T	A	2: 155,561,166	H621Q	probably benign	Het
Akap9	T	C	5: 4,046,736	L2537P	probably benign	Het
Apbb1	C	T	7: 105,559,302	A597T	probably damaging	Het
Cacna1d	A	T	14: 30,075,852	I1448N	probably damaging	Het
Cacna1e	C	T	1: 154,413,117	E1841K	probably damaging	Het
Cep70	A	G	9: 99,281,092	K331E	probably damaging	Het
D430041D05Rik	A	T	2: 104,257,159	Y491N	probably benign	Het
Dnah6	T	C	6: 73,025,720	I3898V	probably benign	Het
Drd2	A	G	9: 49,404,977	T346A	probably benign	Het
Efcab9	T	C	11: 32,522,941	T169A	possibly damaging	Het
Fam163a	A	T	1: 156,079,983	I21N	probably damaging	Het
Fam171a2	C	T	11: 102,438,563	D457N	probably benign	Het
Fbn1	A	T	2: 125,479,280		probably null	Het
Gpr37	A	T	6: 25,689,050	L16H	probably damaging	Het
Gtf3c2	T	C	5: 31,172,831	D265G	probably benign	Het
Idh1	G	T	1: 65,159,490	A407D	probably benign	Het
Ifna12	A	G	4: 88,603,178	M44T	probably damaging	Het
Il22ra1	A	G	4: 135,734,250	M109V	probably benign	Het
Jag2	A	T	12: 112,915,469		probably null	Het
Lca5l	T	C	16: 96,159,561	D572G	unknown	Het
Lcn11	G	A	2: 25,777,818	V73I	probably benign	Het
Lrba	A	G	3: 86,445,397	T1951A	probably damaging	Het
Ltbp2	A	G	12: 84,813,238		probably null	Het
Malrd1	G	A	2: 15,797,799		probably null	Het
Morc2b	C	A	17: 33,137,244	G518V	probably benign	Het
Muc5ac	G	C	7: 141,809,303	G2117A	unknown	Het
Myo5b	A	T	18: 74,634,559	T313S	probably benign	Het
Neto2	C	A	8: 85,669,700	L140F	probably damaging	Het
Nlgn1	C	T	3: 25,434,303	V623I	probably damaging	Het
Olfr364-ps1	A	G	2: 37,146,846	I211M	possibly damaging	Het
Olfr371	T	A	8: 85,230,798	M101K	possibly damaging	Het
Olfr384	C	T	11: 73,603,506	Q309*	probably null	Het
Olfr603	C	A	7: 103,383,738	W88L	probably damaging	Het
Olfr825	T	G	10: 130,162,829	T166P	probably damaging	Het
Optc	A	G	1: 133,906,992	S15P	possibly damaging	Het
Otogl	A	G	10: 107,869,546	V640A	probably damaging	Het
Pcdhgb2	T	C	18: 37,689,970	S5P	probably benign	Het
Pde3a	A	T	6: 141,459,249	E400V	probably benign	Het
Pkhd1l1	A	G	15: 44,586,408	I3856V	possibly damaging	Het
Pld2	G	A	11: 70,552,869		probably null	Het
Plxna4	G	T	6: 32,152,872	H1839N	probably damaging	Het
Ppp6r2	T	C	15: 89,256,701	V89A	probably benign	Het
Rapgef3	T	C	15: 97,757,746	D420G	probably damaging	Het
Rnf17	T	A	14: 56,462,072		probably null	Het
Rps6ka2	T	A	17: 7,277,449		probably null	Het
Rptn	A	T	3: 93,395,921	D187V	probably damaging	Het
Rtn1	T	C	12: 72,308,429	K248E	probably damaging	Het
Rtn4rl1	A	T	11: 75,265,045	H101L	probably benign	Het
Sept3	A	G	15: 82,290,773	N305S	probably benign	Het
Serpina3f	G	T	12: 104,217,306	K142N	possibly damaging	Het
Ssh1	C	A	5: 113,966,234	R116L	probably benign	Het
Taf4	G	A	2: 179,932,029	T682M	probably damaging	Het
Tlr6	T	C	5: 64,954,350	K405E	possibly damaging	Het
Trbv13-2	G	A	6: 41,121,700	A70T	probably benign	Het
Ttn	A	T	2: 76,788,196	I16248N	probably damaging	Het
Ttn	A	T	2: 76,825,505		probably null	Het
Vldlr	A	T	19: 27,217,615	M1L	probably benign	Het
Wscd1	A	G	11: 71,784,365	H366R	probably damaging	Het
Zbtb8a	A	G	4: 129,357,703		probably null	Het
Zfp827	T	C	8: 79,190,329	V511A		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
R0585:Ccdc162	UTSW	10	41586379	missense	probably benign	0.03
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
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
R8321:Ccdc162	UTSW	10	41634033	missense	probably damaging	0.98
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
R9518:Ccdc162	UTSW	10	41589576	missense	probably damaging	1.00
R9525:Ccdc162	UTSW	10	41683226	missense	probably damaging	0.99
R9539:Ccdc162	UTSW	10	41587411	missense	possibly damaging	0.54
R9638:Ccdc162	UTSW	10	41561163	missense	probably benign	0.01
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'- GAGTTTACAGTCAAGGCCAGCAG -3'
(R):5'- AATGAGTCATCGGAGTGGGC -3'

Sequencing Primer
(F):5'- GAGAGCATGGTTTTCTCCATAATAAG -3'
(R):5'- CATCGGAGTGGGCTTTGGAG -3'

Posted On

2019-11-26