Mutagenetix > Incidental Mutations

Incidental Mutation 'R2359:Ccdc141'

247052

Institutional Source

Beutler Lab

Gene Symbol

Ccdc141

Ensembl Gene

ENSMUSG00000044033

Gene Name

coiled-coil domain containing 141

Synonyms

ENSMUSG00000075261, 2610301F02Rik, CAMDI

MMRRC Submission

040341-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2359 (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 77170402 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 29 (V29M)

Ref Sequence

ENSEMBL: ENSMUSP00000107464 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049544] [ENSMUST00000111833] [ENSMUST00000133503] [ENSMUST00000164114]

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000028406

Predicted Effect

probably damaging
Transcript: ENSMUST00000049544
AA Change: V29M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000052945
Gene: ENSMUSG00000044033
AA Change: V29M

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 damaging
Transcript: ENSMUST00000111833
AA Change: V29M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000107464
Gene: ENSMUSG00000044033
AA Change: V29M

Domain	Start	End	E-Value	Type
Blast:SPEC	26	60	4e-16	BLAST
low complexity region	61	75	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131660

Predicted Effect

probably damaging
Transcript: ENSMUST00000133503
AA Change: V29M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000120312
Gene: ENSMUSG00000044033
AA Change: V29M

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000164114
AA Change: V29M

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

SMART Domains

Protein: ENSMUSP00000128736
Gene: ENSMUSG00000044033
AA Change: V29M

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.3%

Validation Efficiency

95% (41/43)

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aaed1	A	T	13: 64,312,651	C12S	probably benign	Het
Adam24	A	G	8: 40,680,945	E484G	possibly damaging	Het
Akr1c20	C	T	13: 4,523,277	G13D	probably damaging	Het
Alkbh3	T	C	2: 94,008,113	T38A	probably benign	Het
Anxa9	A	C	3: 95,302,751	L99R	probably damaging	Het
Arfgef2	A	T	2: 166,860,619	Y826F	probably damaging	Het
Arid2	G	T	15: 96,361,878	L306F	probably damaging	Het
Cd55b	A	G	1: 130,418,121	S187P	probably damaging	Het
Cep63	A	C	9: 102,594,564	L526V	possibly damaging	Het
Chtf8	G	T	8: 106,885,416		probably null	Het
Clca4b	T	A	3: 144,925,242	S286C	probably damaging	Het
Cpsf1	A	G	15: 76,597,673	V1080A	probably benign	Het
Csf2rb2	C	T	15: 78,292,776	V165I	probably benign	Het
Cyp2c40	A	T	19: 39,777,954	V399E	probably damaging	Het
Dnmt3a	T	C	12: 3,901,599	S659P	probably damaging	Het
Efr3b	G	A	12: 3,980,136		probably benign	Het
Epha8	A	G	4: 136,946,032	I147T	probably damaging	Het
Fbxo48	G	A	11: 16,953,602	W76*	probably null	Het
Ggt6	A	T	11: 72,437,551	L254F	possibly damaging	Het
Gm11639	T	C	11: 104,739,280	S967P	possibly damaging	Het
Gm4204	T	A	1: 135,232,189		noncoding transcript	Het
Golph3l	A	G	3: 95,591,964		probably null	Het
Gtf2h3	A	G	5: 124,590,876	K166R	probably damaging	Het
Hsp90aa1	A	G	12: 110,694,569		probably null	Het
Hyi	A	G	4: 118,360,341	R79G	probably benign	Het
Igbp1b	G	A	6: 138,657,715	P244S	probably damaging	Het
Ipo8	G	A	6: 148,816,477		probably benign	Het
Larp4b	C	A	13: 9,158,163	T391K	probably damaging	Het
Lrba	T	C	3: 86,348,750	V1133A	probably benign	Het
Med13	C	T	11: 86,291,035		probably benign	Het
Ncapd2	A	G	6: 125,179,416		probably benign	Het
Neurl1b	T	C	17: 26,441,595	F299L	probably benign	Het
Nosip	G	A	7: 45,074,026	A39T	possibly damaging	Het
Nsd1	A	G	13: 55,213,711	D164G	possibly damaging	Het
Ntn1	G	A	11: 68,385,612	T170M	probably damaging	Het
Polrmt	A	T	10: 79,736,562	L1079Q	probably damaging	Het
Rab30	A	G	7: 92,835,797	D129G	possibly damaging	Het
Rwdd2b	C	T	16: 87,436,921	S97N	probably benign	Het
Slitrk3	T	G	3: 73,049,345	D698A	possibly damaging	Het
Smarcd2	T	C	11: 106,267,164	M93V	probably benign	Het
Tmprss4	A	G	9: 45,185,832	V45A	probably benign	Het
Vmn1r22	A	T	6: 57,900,989	M1K	probably null	Het
Vps13a	A	G	19: 16,652,679		probably benign	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
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
R8508:Ccdc141	UTSW	2	77132244	missense	probably benign	0.01
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'- AGCAGCTGCCAACTTGTTGG -3'
(R):5'- TTTTGGCCGGGCAATCAGTG -3'

Sequencing Primer
(F):5'- GCCAACTTGTTGGAACTTAGCAGTC -3'
(R):5'- TTCCCTGAAAGAGTCCCGGTAG -3'

Posted On

2014-10-30