Mutagenetix > Incidental Mutation

Incidental Mutation 'R3110:Ccdc141'

263804

Institutional Source

Beutler Lab

Gene Symbol

Ccdc141

Ensembl Gene

ENSMUSG00000044033

Gene Name

coiled-coil domain containing 141

Synonyms

ENSMUSG00000075261, 2610301F02Rik, CAMDI

MMRRC Submission

040584-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3110 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

77009902-77170636 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 77039486 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 892 (V892I)

Ref Sequence

ENSEMBL: ENSMUSP00000052945 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049544] [ENSMUST00000164114]

AlphaFold

E9Q8Q6

Predicted Effect

probably benign
Transcript: ENSMUST00000049544
AA Change: V892I

PolyPhen 2 Score 0.315 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000052945
Gene: ENSMUSG00000044033
AA Change: V892I

Domain	Start	End	E-Value	Type
SPEC	26	128	2.87e-1	SMART
Blast:SPEC	132	222	1e-40	BLAST
low complexity region	223	251	N/A	INTRINSIC
SPEC	252	353	3.61e-1	SMART
Blast:SPEC	356	453	2e-49	BLAST
Blast:SPEC	461	562	1e-16	BLAST
low complexity region	569	583	N/A	INTRINSIC
Blast:SPEC	688	772	7e-30	BLAST
low complexity region	773	785	N/A	INTRINSIC
Blast:SPEC	790	894	2e-24	BLAST
Blast:SPEC	907	1009	4e-44	BLAST
Blast:SPEC	1012	1118	9e-63	BLAST
low complexity region	1203	1231	N/A	INTRINSIC
Blast:IG	1305	1416	5e-54	BLAST
SCOP:d1g1ca_	1406	1443	1e-9	SMART
Blast:IG	1416	1444	2e-9	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000164114
AA Change: V892I

PolyPhen 2 Score 0.294 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000128736
Gene: ENSMUSG00000044033
AA Change: V892I

Domain	Start	End	E-Value	Type
SPEC	26	128	2.87e-1	SMART
Blast:SPEC	132	222	2e-40	BLAST
low complexity region	223	251	N/A	INTRINSIC
SPEC	252	353	3.61e-1	SMART
Blast:SPEC	356	453	2e-49	BLAST
Blast:SPEC	461	562	1e-16	BLAST
low complexity region	569	583	N/A	INTRINSIC
Blast:SPEC	688	772	7e-30	BLAST
low complexity region	773	785	N/A	INTRINSIC
Blast:SPEC	790	894	3e-24	BLAST
Blast:SPEC	907	1009	4e-44	BLAST
Blast:SPEC	1012	1118	1e-62	BLAST
low complexity region	1203	1231	N/A	INTRINSIC
IGc2	1422	1489	1.27e-5	SMART
transmembrane domain	1510	1529	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175840

Predicted Effect

unknown
Transcript: ENSMUST00000179467
AA Change: V117I

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

98% (51/52)

MGI Phenotype

PHENOTYPE: Homozygous knockout impairs migration of neurons in the somatosensory cortex, resulting in increased anxiety and hyperactivity. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930430A15Rik	T	G	2: 111,228,054	L131F	probably damaging	Het
Abca6	T	A	11: 110,178,829	K1554*	probably null	Het
Acads	T	C	5: 115,117,698	H26R	probably benign	Het
Acer1	G	A	17: 56,958,406	T141I	probably damaging	Het
Adam15	C	G	3: 89,347,457	V99L	probably benign	Het
Ankrd13b	A	G	11: 77,477,505	V97A	possibly damaging	Het
Anpep	T	C	7: 79,841,972	T94A	probably benign	Het
Atp1a3	T	C	7: 24,994,694	N345S	probably damaging	Het
Btn1a1	T	A	13: 23,461,551	N216I	possibly damaging	Het
Cacna1s	G	A	1: 136,075,093	W62*	probably null	Het
Ccdc180	T	A	4: 45,900,470	I278K	possibly damaging	Het
Cdc7	T	G	5: 106,974,698		probably null	Het
Cpb1	C	T	3: 20,265,357	V188M	probably damaging	Het
Dock5	A	G	14: 67,857,922	I101T	possibly damaging	Het
Dqx1	T	C	6: 83,058,972	V95A	probably damaging	Het
Dvl1	T	A	4: 155,853,666	D90E	probably damaging	Het
Ebf1	T	A	11: 44,643,398		probably benign	Het
Fam135b	T	C	15: 71,464,030	I438M	probably benign	Het
Fam57a	A	G	11: 76,202,231	D33G	probably benign	Het
Fpr1	A	T	17: 17,876,635	M364K	probably benign	Het
Gm14139	C	G	2: 150,192,221	P185R	probably damaging	Het
Gm7030	T	C	17: 36,129,146	Y32C	probably damaging	Het
Gm9932	A	T	5: 100,198,935		unknown	Het
Gpat4	G	A	8: 23,180,155	P286L	probably damaging	Het
Gpx7	C	A	4: 108,403,273	V109F	probably damaging	Het
Grhl2	T	C	15: 37,336,347		probably null	Het
Grn	A	G	11: 102,433,243	T53A	probably benign	Het
Hist1h1e	T	C	13: 23,621,846		probably benign	Het
Hmgxb3	T	C	18: 61,147,382	N683S	probably damaging	Het
Iigp1	T	C	18: 60,390,911	I367T	probably benign	Het
Itfg2	T	C	6: 128,411,669	E285G	probably damaging	Het
Itgav	T	A	2: 83,792,571	C662*	probably null	Het
Jarid2	T	A	13: 44,906,276	N661K	probably damaging	Het
Jmjd1c	T	A	10: 67,240,084		probably benign	Het
Lipe	T	C	7: 25,398,423	T32A	probably benign	Het
Lrrk2	A	G	15: 91,814,695	Y2475C	probably benign	Het
Mcc	T	C	18: 44,449,263	D607G	probably damaging	Het
Mip	T	A	10: 128,226,006	L42*	probably null	Het
Mlc1	A	T	15: 88,965,996	D192E	probably benign	Het
Muc2	T	C	7: 141,745,488		probably benign	Het
Mybl1	T	C	1: 9,681,870	D260G	probably damaging	Het
Ncln	C	T	10: 81,487,685	V51I	probably benign	Het
Nlrp9a	T	C	7: 26,557,872	V305A	probably benign	Het
Nodal	G	A	10: 61,424,497	R309Q	possibly damaging	Het
Olfr1338	A	T	4: 118,754,224	F105I	probably damaging	Het
Olfr294	T	C	7: 86,615,676	Y323C	probably benign	Het
Olfr536	A	G	7: 140,503,919	I180T	probably damaging	Het
Olr1	T	C	6: 129,499,918	N128S	possibly damaging	Het
Orc1	T	A	4: 108,604,560	C585S	probably benign	Het
Pcmtd2	A	T	2: 181,855,129	I300F	probably damaging	Het
Phactr3	T	A	2: 178,279,017	L180Q	possibly damaging	Het
Pigo	T	C	4: 43,021,083	T612A	probably benign	Het
Plch1	T	A	3: 63,709,531	D766V	probably damaging	Het
Plekhh3	T	C	11: 101,164,147		probably benign	Het
Ppp1r12b	T	A	1: 134,872,832	T547S	probably damaging	Het
Prkcb	T	A	7: 122,516,856	M186K	probably damaging	Het
Prpf3	A	T	3: 95,849,800		probably benign	Het
Psg23	T	C	7: 18,610,444	D362G	possibly damaging	Het
Reg3a	T	C	6: 78,381,131	L15P	probably damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,579,904		probably benign	Het
Scrib	A	T	15: 76,069,374	I5N	probably damaging	Het
Speg	C	T	1: 75,422,682	Q2005*	probably null	Het
Sppl3	A	T	5: 115,074,864	S51C	possibly damaging	Het
Sspo	A	G	6: 48,457,600	T1009A	probably damaging	Het
Syce1l	A	G	8: 113,654,947	Q164R	probably benign	Het
Sympk	T	C	7: 19,034,484	V126A	possibly damaging	Het
Tas2r110	T	A	6: 132,868,024	I6K	unknown	Het
Tas2r120	A	T	6: 132,657,768	H271L	probably damaging	Het
Tnn	T	A	1: 160,116,286	T986S	possibly damaging	Het
Trim5	T	C	7: 104,279,638	H32R	probably damaging	Het
Ttc13	A	G	8: 124,683,834	I360T	possibly damaging	Het
Uaca	A	G	9: 60,871,499	E1054G	probably damaging	Het
Usp16	T	A	16: 87,471,848		probably null	Het
Wee1	T	A	7: 110,130,836	S382R	probably damaging	Het
Wnt11	T	C	7: 98,846,564	S92P	probably damaging	Het
Zfp786	A	G	6: 47,820,226	C593R	probably damaging	Het
Zfp879	T	G	11: 50,833,162	I283L	possibly damaging	Het

Other mutations in Ccdc141

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00517:Ccdc141	APN	2	77054644	missense	probably damaging	0.98
IGL01396:Ccdc141	APN	2	77128325	missense	possibly damaging	0.87
IGL01408:Ccdc141	APN	2	77045679	missense	probably benign	0.01
IGL01633:Ccdc141	APN	2	77089249	missense	probably benign	0.01
IGL01982:Ccdc141	APN	2	77030659	missense	probably damaging	1.00
IGL02105:Ccdc141	APN	2	77049577	critical splice donor site	probably null
IGL02307:Ccdc141	APN	2	77029342	missense	probably damaging	1.00
IGL02645:Ccdc141	APN	2	77074867	nonsense	probably null
IGL02737:Ccdc141	APN	2	77057924	missense	probably damaging	0.97
IGL02740:Ccdc141	APN	2	77054609	missense	probably benign	0.05
IGL02949:Ccdc141	APN	2	77027594	missense	probably damaging	1.00
IGL03127:Ccdc141	APN	2	77029235	critical splice donor site	probably null
Verloren	UTSW	2	77027648	missense	probably damaging	1.00
Verschied	UTSW	2	77108356	splice site	probably benign
R0153:Ccdc141	UTSW	2	77165238	intron	probably benign
R0384:Ccdc141	UTSW	2	77027648	missense	probably damaging	1.00
R0423:Ccdc141	UTSW	2	77039450	missense	probably damaging	0.96
R0573:Ccdc141	UTSW	2	77039493	missense	probably benign	0.00
R1332:Ccdc141	UTSW	2	77014440	missense	probably damaging	1.00
R1336:Ccdc141	UTSW	2	77014440	missense	probably damaging	1.00
R1355:Ccdc141	UTSW	2	77030601	missense	probably damaging	1.00
R1416:Ccdc141	UTSW	2	77014796	missense	probably damaging	1.00
R1659:Ccdc141	UTSW	2	77054683	missense	probably benign	0.41
R1726:Ccdc141	UTSW	2	77108356	splice site	probably benign
R1799:Ccdc141	UTSW	2	77011671	missense	possibly damaging	0.88
R1837:Ccdc141	UTSW	2	77011665	missense	probably benign	0.00
R1839:Ccdc141	UTSW	2	77011665	missense	probably benign	0.00
R1918:Ccdc141	UTSW	2	77014703	missense	probably benign	0.00
R2019:Ccdc141	UTSW	2	77011565	missense	probably damaging	1.00
R2133:Ccdc141	UTSW	2	77059607	missense	probably benign	0.28
R2158:Ccdc141	UTSW	2	77030671	missense	probably damaging	1.00
R2256:Ccdc141	UTSW	2	77132262	missense	probably damaging	1.00
R2359:Ccdc141	UTSW	2	77170402	missense	probably damaging	1.00
R2382:Ccdc141	UTSW	2	77011542	missense	probably damaging	1.00
R2382:Ccdc141	UTSW	2	77074998	missense	probably benign	0.11
R3112:Ccdc141	UTSW	2	77039486	missense	probably benign	0.31
R4334:Ccdc141	UTSW	2	77170432	missense	probably damaging	1.00
R4493:Ccdc141	UTSW	2	77132297	missense	probably damaging	1.00
R4494:Ccdc141	UTSW	2	77132297	missense	probably damaging	1.00
R4628:Ccdc141	UTSW	2	77059680	missense	probably benign	0.02
R4748:Ccdc141	UTSW	2	77057980	missense	possibly damaging	0.67
R4810:Ccdc141	UTSW	2	77045755	missense	possibly damaging	0.73
R4824:Ccdc141	UTSW	2	77124336	missense	probably damaging	0.99
R4829:Ccdc141	UTSW	2	77074916	missense	probably damaging	0.99
R4920:Ccdc141	UTSW	2	77168563	missense	probably damaging	1.00
R5024:Ccdc141	UTSW	2	77054703	missense	probably benign	0.17
R5073:Ccdc141	UTSW	2	77124378	splice site	probably null
R5251:Ccdc141	UTSW	2	77027774	missense	probably damaging	1.00
R5252:Ccdc141	UTSW	2	77132249	missense	probably benign	0.03
R5534:Ccdc141	UTSW	2	77057897	missense	probably benign
R5539:Ccdc141	UTSW	2	77015093	missense	probably damaging	0.98
R5551:Ccdc141	UTSW	2	77014409	missense	probably damaging	1.00
R5784:Ccdc141	UTSW	2	77029327	missense	probably damaging	1.00
R5837:Ccdc141	UTSW	2	77108437	missense	possibly damaging	0.56
R5850:Ccdc141	UTSW	2	77029403	missense	probably damaging	0.98
R6050:Ccdc141	UTSW	2	77011731	missense	probably benign	0.33
R6263:Ccdc141	UTSW	2	77108463	missense	probably damaging	1.00
R6502:Ccdc141	UTSW	2	77170401	missense	probably damaging	1.00
R6580:Ccdc141	UTSW	2	77011755	missense	possibly damaging	0.50
R6865:Ccdc141	UTSW	2	77029235	critical splice donor site	probably null
R7014:Ccdc141	UTSW	2	77132297	missense	probably damaging	1.00
R7094:Ccdc141	UTSW	2	77041453	missense	possibly damaging	0.83
R7195:Ccdc141	UTSW	2	77049583	missense	probably benign	0.39
R7300:Ccdc141	UTSW	2	77014694	missense	probably benign	0.00
R7654:Ccdc141	UTSW	2	77042478	missense	probably benign	0.05
R7834:Ccdc141	UTSW	2	77059545	missense	possibly damaging	0.81
R7868:Ccdc141	UTSW	2	77108412	missense	probably damaging	0.99
R7986:Ccdc141	UTSW	2	77015117	missense	probably benign	0.01
R8059:Ccdc141	UTSW	2	77044751	missense	probably damaging	1.00
R8082:Ccdc141	UTSW	2	77124244	missense	probably damaging	0.99
R8439:Ccdc141	UTSW	2	77059550	missense	possibly damaging	0.82
R8508:Ccdc141	UTSW	2	77132244	missense	probably benign	0.01
R8695:Ccdc141	UTSW	2	77049619	missense	probably benign	0.03
R8880:Ccdc141	UTSW	2	77015212	missense	probably benign	0.28
R8992:Ccdc141	UTSW	2	77014395	missense	probably damaging	1.00
R9048:Ccdc141	UTSW	2	77023528	missense	probably damaging	1.00
R9260:Ccdc141	UTSW	2	77014451	missense	probably damaging	1.00
R9297:Ccdc141	UTSW	2	77011684	missense	probably benign	0.34
R9418:Ccdc141	UTSW	2	77041422	missense	probably benign	0.05
R9601:Ccdc141	UTSW	2	77054729	missense	possibly damaging	0.64
R9628:Ccdc141	UTSW	2	77014494	missense	probably damaging	1.00
R9763:Ccdc141	UTSW	2	77039575	missense	probably damaging	1.00
Z1088:Ccdc141	UTSW	2	77128272	missense	probably benign	0.03
Z1177:Ccdc141	UTSW	2	77015149	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGGGTCAGAAAACCATGTTACCA -3'
(R):5'- GCATTACAATACAGGCAAATGGTATAT -3'

Posted On

2015-02-05