Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01633:Ccdc141'

93639

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ccdc141

Ensembl Gene

ENSMUSG00000044033

Gene Name

coiled-coil domain containing 141

Synonyms

ENSMUSG00000075261, 2610301F02Rik, CAMDI

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01633

Quality Score

Status

Chromosome

Chromosomal Location

77009902-77170636 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 77089249 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 305 (V305I)

Ref Sequence

ENSEMBL: ENSMUSP00000052945 (fasta)

Gene Model

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

AlphaFold

E9Q8Q6

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000028406

Predicted Effect

probably benign
Transcript: ENSMUST00000049544
AA Change: V305I

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000052945
Gene: ENSMUSG00000044033
AA Change: V305I

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

noncoding transcript
Transcript: ENSMUST00000131660

Predicted Effect

probably benign
Transcript: ENSMUST00000164114
AA Change: V305I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000128736
Gene: ENSMUSG00000044033
AA Change: V305I

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

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	T	A	2: 25,444,394	S1868T	possibly damaging	Het
Abca3	G	A	17: 24,397,353	W923*	probably null	Het
Abca8b	A	G	11: 109,936,754	M1476T	probably damaging	Het
Abi3bp	T	C	16: 56,677,800	F729S	probably damaging	Het
Acacb	T	C	5: 114,218,858		probably benign	Het
Aldh3a2	A	G	11: 61,248,905	L467P	probably benign	Het
Appl1	T	C	14: 26,962,838	T85A	probably damaging	Het
Aspm	T	A	1: 139,480,836	I2487N	possibly damaging	Het
Bcl2a1c	G	A	9: 114,330,222	V23I	probably benign	Het
C2cd2	T	A	16: 97,875,123		probably benign	Het
Carmil3	A	T	14: 55,494,227	H170L	possibly damaging	Het
Ccdc174	G	A	6: 91,880,362		probably null	Het
Cep126	T	G	9: 8,103,319	Q230P	possibly damaging	Het
Chrm1	T	C	19: 8,678,495	I188T	probably benign	Het
Depdc5	T	C	5: 32,924,200	S569P	probably damaging	Het
Drc1	G	A	5: 30,345,663	E177K	probably damaging	Het
Duox1	A	G	2: 122,333,798	E913G	probably benign	Het
Fam35a	G	T	14: 34,249,179	T31K	probably damaging	Het
Fbxw9	T	C	8: 85,064,426	S241P	probably damaging	Het
Fez2	C	A	17: 78,404,718		probably benign	Het
Fga	G	T	3: 83,030,299	R161L	possibly damaging	Het
Fn3krp	G	T	11: 121,429,707	G293*	probably null	Het
Gfra1	C	T	19: 58,267,047	E318K	probably benign	Het
Gli3	C	T	13: 15,648,634	P314S	probably damaging	Het
Gm5114	A	T	7: 39,408,066	S710T	probably benign	Het
Gpr141	T	C	13: 19,752,599	D2G	probably benign	Het
Inppl1	G	A	7: 101,833,834	Q63*	probably null	Het
Lrrc73	T	A	17: 46,255,731	V169E	possibly damaging	Het
Lsm11	C	T	11: 45,933,788	R304Q	probably benign	Het
Macf1	T	C	4: 123,502,171	D788G	probably damaging	Het
Nbas	T	A	12: 13,483,897	D1844E	probably damaging	Het
Nt5c	A	G	11: 115,491,335	F73L	probably damaging	Het
Osmr	A	T	15: 6,824,604	I541N	probably damaging	Het
Phrf1	A	G	7: 141,260,500	I1203V	probably benign	Het
Pram1	C	A	17: 33,642,135	P510Q	possibly damaging	Het
Prepl	A	G	17: 85,072,016	Y415H	probably benign	Het
Prss27	A	T	17: 24,045,676	H271L	probably damaging	Het
Ptpn18	A	G	1: 34,471,908	S287G	probably benign	Het
Ptprq	T	C	10: 107,699,723		probably benign	Het
Sars2	A	G	7: 28,747,549	K218E	probably benign	Het
Senp6	G	T	9: 80,092,394	S31I	probably damaging	Het
Skint6	C	A	4: 113,238,049	V138F	probably damaging	Het
Slc4a8	C	A	15: 100,787,247	H168N	probably damaging	Het
Tbx15	T	G	3: 99,313,042	I150S	probably damaging	Het
Tbxas1	A	G	6: 38,982,191	N103D	probably benign	Het
Tmc5	A	G	7: 118,623,586	N170D	probably damaging	Het
Tmem108	A	T	9: 103,484,751	N545K	probably benign	Het
Trub1	A	G	19: 57,453,184	K80E	possibly damaging	Het
Tulp3	A	T	6: 128,325,960	Y299N	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
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
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

Posted On

2013-12-09