Mutagenetix > Incidental Mutations

Incidental Mutation 'R8508:Ccdc141'

655680

Institutional Source

Beutler Lab

Gene Symbol

Ccdc141

Ensembl Gene

ENSMUSG00000044033

Gene Name

coiled-coil domain containing 141

Synonyms

ENSMUSG00000075261, 2610301F02Rik, CAMDI

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8508 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

77009902-77170636 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 77132244 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 119 (M119L)

Ref Sequence

ENSEMBL: ENSMUSP00000052945 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049544] [ENSMUST00000133503] [ENSMUST00000164114]

Predicted Effect

probably benign
Transcript: ENSMUST00000049544
AA Change: M119L

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000052945
Gene: ENSMUSG00000044033
AA Change: M119L

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: ENSMUST00000133503

SMART Domains

Protein: ENSMUSP00000120312
Gene: ENSMUSG00000044033

Domain	Start	End	E-Value	Type
Blast:SPEC	26	60	4e-17	BLAST
low complexity region	61	76	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000164114
AA Change: M119L

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000128736
Gene: ENSMUSG00000044033
AA Change: M119L

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.0%

Validation Efficiency

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700014D04Rik	A	G	13: 59,743,598	L136P	probably benign	Het
4932438H23Rik	T	G	16: 91,055,612	Y212S	probably damaging	Het
Angpt1	T	C	15: 42,512,399	N154D	probably damaging	Het
Angpt2	G	A	8: 18,741,119	R54*	probably null	Het
Ankrd27	T	A	7: 35,601,626	L117*	probably null	Het
Arhgap21	C	T	2: 20,854,180	M1234I	probably benign	Het
Arhgef33	A	G	17: 80,367,335	E387G	probably damaging	Het
Atp13a4	T	A	16: 29,454,769	K444*	probably null	Het
Atp6v1a	G	A	16: 44,101,862	R338C	probably damaging	Het
Canx	T	C	11: 50,311,647	D44G	possibly damaging	Het
Ckmt1	A	C	2: 121,362,691	Q299P	possibly damaging	Het
Dhx16	T	C	17: 35,885,920	S601P	probably damaging	Het
Dna2	A	C	10: 62,950,894	R140S	probably damaging	Het
Dock1	A	G	7: 134,782,409	T670A	probably benign	Het
Eogt	A	G	6: 97,143,998	S85P	possibly damaging	Het
Fbf1	A	T	11: 116,165,881	M1K	probably null	Het
Fbxl12	C	A	9: 20,638,864	R165L	possibly damaging	Het
Flnb	G	A	14: 7,950,394	V2571I	probably damaging	Het
Gm11361	A	G	13: 28,257,711	I26V	probably benign	Het
Gm43518	A	G	5: 123,938,259	E123G	unknown	Het
Gm8332	T	G	12: 88,249,685	E139A	unknown	Het
Gpatch2	A	G	1: 187,304,355	N374S	probably benign	Het
Hey1	G	C	3: 8,664,776	A207G	probably benign	Het
Hoxa11	T	C	6: 52,245,802		probably benign	Het
Hydin	G	A	8: 110,582,018	V3979I	probably benign	Het
Ighe	C	T	12: 113,271,793	W277*	probably null	Het
Kmt2c	G	T	5: 25,314,122	T2330K	probably benign	Het
Krt6a	T	A	15: 101,692,735	K261M	probably damaging	Het
Lats2	A	C	14: 57,722,705	S161A	probably benign	Het
Med13l	T	A	5: 118,754,321	D1936E	probably benign	Het
Mipol1	T	C	12: 57,306,088	V71A	possibly damaging	Het
Mphosph8	A	T	14: 56,676,546	K415*	probably null	Het
Npepps	A	G	11: 97,244,426		probably null	Het
Ntn4	A	T	10: 93,741,104	N545Y	possibly damaging	Het
Olfr1501	A	T	19: 13,838,402	M257K	possibly damaging	Het
Olfr164	T	C	16: 19,286,701	D14G	probably benign	Het
Olfr353	A	G	2: 36,890,354	S165P	probably damaging	Het
Olfr738	A	C	14: 50,413,675	M44L	probably benign	Het
Osbpl2	T	A	2: 180,155,343	V358E	possibly damaging	Het
Pdcd11	C	A	19: 47,119,806	P1204Q	probably damaging	Het
Pnliprp2	A	C	19: 58,763,374	S184R	probably damaging	Het
Ppm1g	G	T	5: 31,204,528	R373S	probably damaging	Het
Rnf130	A	G	11: 50,087,437	D275G	probably damaging	Het
Setd5	T	C	6: 113,121,087	S696P	probably damaging	Het
Sgip1	A	G	4: 102,915,071	Q219R	probably benign	Het
Slc1a2	T	C	2: 102,736,085		probably null	Het
Slc22a12	T	C	19: 6,542,437	T106A	probably benign	Het
Slc22a14	A	G	9: 119,180,585	L148P	probably damaging	Het
Slc2a9	A	T	5: 38,382,078	F375I	probably damaging	Het
Sorbs3	A	T	14: 70,202,947	D117E	probably benign	Het
Sphkap	G	A	1: 83,276,500	T1176I	probably damaging	Het
Supt16	A	T	14: 52,181,589	V193D	probably damaging	Het
Sytl3	A	G	17: 6,728,291	T362A	probably damaging	Het
Tctn1	T	A	5: 122,246,611	Q410L	probably benign	Het
Trbc2	T	C	6: 41,547,777	Y133H		Het
Ttc28	G	A	5: 111,233,341	D1240N	probably benign	Het
Vmn2r120	A	G	17: 57,525,843	V112A	probably benign	Het
Zfp354b	A	T	11: 50,923,470	S209R	probably benign	Het
Zfp362	T	C	4: 128,774,606	H391R	probably 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
R3110:Ccdc141	UTSW	2	77039486	missense	probably benign	0.31
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
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'- CACATGAGCATTCCCCAATAATTG -3'
(R):5'- TACACTGGATGGCAACTGATTTAC -3'

Sequencing Primer
(F):5'- TCCCCAATAATTGTATAGTGAGAGC -3'
(R):5'- CTGGATGGCAACTGATTTACATTTTC -3'

Posted On

2020-10-20