Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03127:Ccdc141'

410203

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ccdc141

Ensembl Gene

ENSMUSG00000044033

Gene Name

coiled-coil domain containing 141

Synonyms

ENSMUSG00000075261, CAMDI, 2610301F02Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03127

Quality Score

Status

Chromosome

Chromosomal Location

76840246-77000980 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to T at 76859579 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000128736 (fasta)

Gene Model

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

AlphaFold

E9Q8Q6

Predicted Effect

probably null
Transcript: ENSMUST00000049544

SMART Domains

Protein: ENSMUSP00000052945
Gene: ENSMUSG00000044033

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: ENSMUST00000154013

Predicted Effect

probably null
Transcript: ENSMUST00000164114

SMART Domains

Protein: ENSMUSP00000128736
Gene: ENSMUSG00000044033

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

probably benign
Transcript: ENSMUST00000179467

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: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvr1b	A	G	15: 101,100,959 (GRCm39)	R374G	probably damaging	Het
Amdhd2	A	G	17: 24,376,712 (GRCm39)		probably null	Het
Apol7c	A	G	15: 77,410,106 (GRCm39)	M280T	probably benign	Het
Atl2	T	C	17: 80,160,283 (GRCm39)	M264V	probably damaging	Het
Dtx4	T	C	19: 12,463,864 (GRCm39)		probably benign	Het
Dyrk4	G	A	6: 126,874,134 (GRCm39)	T152I	possibly damaging	Het
F5	T	A	1: 164,021,107 (GRCm39)	I1194N	probably benign	Het
Gadl1	C	T	9: 115,777,732 (GRCm39)	T126M	probably damaging	Het
Gcnt7	A	T	2: 172,296,331 (GRCm39)	C110*	probably null	Het
H2-M9	C	T	17: 36,951,714 (GRCm39)	V254M	possibly damaging	Het
Hadha	A	T	5: 30,339,184 (GRCm39)		probably benign	Het
Kit	T	C	5: 75,801,848 (GRCm39)	M621T	probably benign	Het
Krt73	T	C	15: 101,704,275 (GRCm39)	M422V	probably benign	Het
Neil2	T	C	14: 63,429,257 (GRCm39)	H12R	probably benign	Het
Nrsn1	A	G	13: 25,437,700 (GRCm39)	L76P	probably damaging	Het
Or2y1g	T	G	11: 49,171,599 (GRCm39)	V208G	possibly damaging	Het
Or8b1	C	A	9: 38,399,882 (GRCm39)	Q186K	probably benign	Het
Or8d2	T	A	9: 38,759,505 (GRCm39)	Y32N	probably damaging	Het
Pot1a	G	A	6: 25,794,615 (GRCm39)	A23V	probably benign	Het
Ppp1r14d	A	G	2: 119,048,841 (GRCm39)	*147Q	probably null	Het
Ptger2	T	C	14: 45,239,462 (GRCm39)		probably benign	Het
Syne3	A	T	12: 104,909,687 (GRCm39)	D716E	probably benign	Het
Tbc1d9	A	G	8: 83,976,102 (GRCm39)	N554D	probably damaging	Het
Ushbp1	T	A	8: 71,847,020 (GRCm39)	Q204L	possibly damaging	Het

Other mutations in Ccdc141

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00517:Ccdc141	APN	2	76,884,988 (GRCm39)	missense	probably damaging	0.98
IGL01396:Ccdc141	APN	2	76,958,669 (GRCm39)	missense	possibly damaging	0.87
IGL01408:Ccdc141	APN	2	76,876,023 (GRCm39)	missense	probably benign	0.01
IGL01633:Ccdc141	APN	2	76,919,593 (GRCm39)	missense	probably benign	0.01
IGL01982:Ccdc141	APN	2	76,861,003 (GRCm39)	missense	probably damaging	1.00
IGL02105:Ccdc141	APN	2	76,879,921 (GRCm39)	critical splice donor site	probably null
IGL02307:Ccdc141	APN	2	76,859,686 (GRCm39)	missense	probably damaging	1.00
IGL02645:Ccdc141	APN	2	76,905,211 (GRCm39)	nonsense	probably null
IGL02737:Ccdc141	APN	2	76,888,268 (GRCm39)	missense	probably damaging	0.97
IGL02740:Ccdc141	APN	2	76,884,953 (GRCm39)	missense	probably benign	0.05
IGL02949:Ccdc141	APN	2	76,857,938 (GRCm39)	missense	probably damaging	1.00
Verloren	UTSW	2	76,857,992 (GRCm39)	missense	probably damaging	1.00
Verschied	UTSW	2	76,938,700 (GRCm39)	splice site	probably benign
R0153:Ccdc141	UTSW	2	76,995,582 (GRCm39)	intron	probably benign
R0384:Ccdc141	UTSW	2	76,857,992 (GRCm39)	missense	probably damaging	1.00
R0423:Ccdc141	UTSW	2	76,869,794 (GRCm39)	missense	probably damaging	0.96
R0573:Ccdc141	UTSW	2	76,869,837 (GRCm39)	missense	probably benign	0.00
R1332:Ccdc141	UTSW	2	76,844,784 (GRCm39)	missense	probably damaging	1.00
R1336:Ccdc141	UTSW	2	76,844,784 (GRCm39)	missense	probably damaging	1.00
R1355:Ccdc141	UTSW	2	76,860,945 (GRCm39)	missense	probably damaging	1.00
R1416:Ccdc141	UTSW	2	76,845,140 (GRCm39)	missense	probably damaging	1.00
R1659:Ccdc141	UTSW	2	76,885,027 (GRCm39)	missense	probably benign	0.41
R1726:Ccdc141	UTSW	2	76,938,700 (GRCm39)	splice site	probably benign
R1799:Ccdc141	UTSW	2	76,842,015 (GRCm39)	missense	possibly damaging	0.88
R1837:Ccdc141	UTSW	2	76,842,009 (GRCm39)	missense	probably benign	0.00
R1839:Ccdc141	UTSW	2	76,842,009 (GRCm39)	missense	probably benign	0.00
R1918:Ccdc141	UTSW	2	76,845,047 (GRCm39)	missense	probably benign	0.00
R2019:Ccdc141	UTSW	2	76,841,909 (GRCm39)	missense	probably damaging	1.00
R2133:Ccdc141	UTSW	2	76,889,951 (GRCm39)	missense	probably benign	0.28
R2158:Ccdc141	UTSW	2	76,861,015 (GRCm39)	missense	probably damaging	1.00
R2256:Ccdc141	UTSW	2	76,962,606 (GRCm39)	missense	probably damaging	1.00
R2359:Ccdc141	UTSW	2	77,000,746 (GRCm39)	missense	probably damaging	1.00
R2382:Ccdc141	UTSW	2	76,905,342 (GRCm39)	missense	probably benign	0.11
R2382:Ccdc141	UTSW	2	76,841,886 (GRCm39)	missense	probably damaging	1.00
R3110:Ccdc141	UTSW	2	76,869,830 (GRCm39)	missense	probably benign	0.31
R3112:Ccdc141	UTSW	2	76,869,830 (GRCm39)	missense	probably benign	0.31
R4334:Ccdc141	UTSW	2	77,000,776 (GRCm39)	missense	probably damaging	1.00
R4493:Ccdc141	UTSW	2	76,962,641 (GRCm39)	missense	probably damaging	1.00
R4494:Ccdc141	UTSW	2	76,962,641 (GRCm39)	missense	probably damaging	1.00
R4628:Ccdc141	UTSW	2	76,890,024 (GRCm39)	missense	probably benign	0.02
R4748:Ccdc141	UTSW	2	76,888,324 (GRCm39)	missense	possibly damaging	0.67
R4810:Ccdc141	UTSW	2	76,876,099 (GRCm39)	missense	possibly damaging	0.73
R4824:Ccdc141	UTSW	2	76,954,680 (GRCm39)	missense	probably damaging	0.99
R4829:Ccdc141	UTSW	2	76,905,260 (GRCm39)	missense	probably damaging	0.99
R4920:Ccdc141	UTSW	2	76,998,907 (GRCm39)	missense	probably damaging	1.00
R5024:Ccdc141	UTSW	2	76,885,047 (GRCm39)	missense	probably benign	0.17
R5073:Ccdc141	UTSW	2	76,954,722 (GRCm39)	splice site	probably null
R5251:Ccdc141	UTSW	2	76,858,118 (GRCm39)	missense	probably damaging	1.00
R5252:Ccdc141	UTSW	2	76,962,593 (GRCm39)	missense	probably benign	0.03
R5534:Ccdc141	UTSW	2	76,888,241 (GRCm39)	missense	probably benign
R5539:Ccdc141	UTSW	2	76,845,437 (GRCm39)	missense	probably damaging	0.98
R5551:Ccdc141	UTSW	2	76,844,753 (GRCm39)	missense	probably damaging	1.00
R5784:Ccdc141	UTSW	2	76,859,671 (GRCm39)	missense	probably damaging	1.00
R5837:Ccdc141	UTSW	2	76,938,781 (GRCm39)	missense	possibly damaging	0.56
R5850:Ccdc141	UTSW	2	76,859,747 (GRCm39)	missense	probably damaging	0.98
R6050:Ccdc141	UTSW	2	76,842,075 (GRCm39)	missense	probably benign	0.33
R6263:Ccdc141	UTSW	2	76,938,807 (GRCm39)	missense	probably damaging	1.00
R6502:Ccdc141	UTSW	2	77,000,745 (GRCm39)	missense	probably damaging	1.00
R6580:Ccdc141	UTSW	2	76,842,099 (GRCm39)	missense	possibly damaging	0.50
R6865:Ccdc141	UTSW	2	76,859,579 (GRCm39)	critical splice donor site	probably null
R7014:Ccdc141	UTSW	2	76,962,641 (GRCm39)	missense	probably damaging	1.00
R7094:Ccdc141	UTSW	2	76,871,797 (GRCm39)	missense	possibly damaging	0.83
R7195:Ccdc141	UTSW	2	76,879,927 (GRCm39)	missense	probably benign	0.39
R7300:Ccdc141	UTSW	2	76,845,038 (GRCm39)	missense	probably benign	0.00
R7654:Ccdc141	UTSW	2	76,872,822 (GRCm39)	missense	probably benign	0.05
R7834:Ccdc141	UTSW	2	76,889,889 (GRCm39)	missense	possibly damaging	0.81
R7868:Ccdc141	UTSW	2	76,938,756 (GRCm39)	missense	probably damaging	0.99
R7986:Ccdc141	UTSW	2	76,845,461 (GRCm39)	missense	probably benign	0.01
R8059:Ccdc141	UTSW	2	76,875,095 (GRCm39)	missense	probably damaging	1.00
R8082:Ccdc141	UTSW	2	76,954,588 (GRCm39)	missense	probably damaging	0.99
R8439:Ccdc141	UTSW	2	76,889,894 (GRCm39)	missense	possibly damaging	0.82
R8508:Ccdc141	UTSW	2	76,962,588 (GRCm39)	missense	probably benign	0.01
R8695:Ccdc141	UTSW	2	76,879,963 (GRCm39)	missense	probably benign	0.03
R8880:Ccdc141	UTSW	2	76,845,556 (GRCm39)	missense	probably benign	0.28
R8992:Ccdc141	UTSW	2	76,844,739 (GRCm39)	missense	probably damaging	1.00
R9048:Ccdc141	UTSW	2	76,853,872 (GRCm39)	missense	probably damaging	1.00
R9260:Ccdc141	UTSW	2	76,844,795 (GRCm39)	missense	probably damaging	1.00
R9297:Ccdc141	UTSW	2	76,842,028 (GRCm39)	missense	probably benign	0.34
R9418:Ccdc141	UTSW	2	76,871,766 (GRCm39)	missense	probably benign	0.05
R9601:Ccdc141	UTSW	2	76,885,073 (GRCm39)	missense	possibly damaging	0.64
R9628:Ccdc141	UTSW	2	76,844,838 (GRCm39)	missense	probably damaging	1.00
R9763:Ccdc141	UTSW	2	76,869,919 (GRCm39)	missense	probably damaging	1.00
Z1088:Ccdc141	UTSW	2	76,958,616 (GRCm39)	missense	probably benign	0.03
Z1177:Ccdc141	UTSW	2	76,845,493 (GRCm39)	missense	probably benign	0.00

Posted On

2016-08-02