Mutagenetix > Incidental Mutation

Incidental Mutation 'R5850:Ccdc141'

454604

Institutional Source

Beutler Lab

Gene Symbol

Ccdc141

Ensembl Gene

ENSMUSG00000044033

Gene Name

coiled-coil domain containing 141

Synonyms

ENSMUSG00000075261, CAMDI, 2610301F02Rik

MMRRC Submission

043226-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5850 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

76840246-77000980 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 76859747 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 965 (N965Y)

Ref Sequence

ENSEMBL: ENSMUSP00000052945 (fasta)

Gene Model

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

AlphaFold

E9Q8Q6

Predicted Effect

probably damaging
Transcript: ENSMUST00000049544
AA Change: N965Y

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000052945
Gene: ENSMUSG00000044033
AA Change: N965Y

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

possibly damaging
Transcript: ENSMUST00000164114
AA Change: N965Y

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000128736
Gene: ENSMUSG00000044033
AA Change: N965Y

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

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.2%

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930553M12Rik	T	C	4: 88,786,596 (GRCm39)	I7M	unknown	Het
Abca8b	C	A	11: 109,868,639 (GRCm39)	G175V	probably damaging	Het
Abhd14a	A	C	9: 106,317,548 (GRCm39)	L225R	probably damaging	Het
Apbb1	A	G	7: 105,216,790 (GRCm39)	S39P	probably damaging	Het
Apc	T	C	18: 34,451,116 (GRCm39)	S2637P	possibly damaging	Het
Apold1	T	C	6: 134,961,058 (GRCm39)	F171L	probably damaging	Het
Ascc3	T	C	10: 50,587,049 (GRCm39)	M967T	probably damaging	Het
Atf7ip	T	C	6: 136,543,785 (GRCm39)		probably null	Het
Bcl2l15	T	A	3: 103,743,432 (GRCm39)	V111D	possibly damaging	Het
Bsn	A	T	9: 107,992,149 (GRCm39)	M1201K	probably damaging	Het
Cnn3	T	C	3: 121,245,577 (GRCm39)	Y98H	probably damaging	Het
Cnot1	G	A	8: 96,460,775 (GRCm39)	R117*	probably null	Het
Dlgap1	G	A	17: 71,094,087 (GRCm39)	V803M	probably damaging	Het
Drd3	A	C	16: 43,638,695 (GRCm39)	M299L	probably benign	Het
Ergic2	C	A	6: 148,084,605 (GRCm39)	M34I	possibly damaging	Het
Ext2	A	T	2: 93,644,004 (GRCm39)	D92E	possibly damaging	Het
Fmnl1	A	G	11: 103,086,111 (GRCm39)		probably benign	Het
Ganab	C	T	19: 8,889,071 (GRCm39)	R591W	probably damaging	Het
Kdsr	A	T	1: 106,683,172 (GRCm39)		probably null	Het
Macf1	T	C	4: 123,401,099 (GRCm39)	E813G	probably damaging	Het
Nlrc5	A	G	8: 95,247,675 (GRCm39)	T1621A	probably benign	Het
Nmnat1	G	A	4: 149,554,124 (GRCm39)	Q139*	probably null	Het
Os9	TTCCTCCTCCTCCTCCTCCTC	TTCCTCCTCCTCCTCCTC	10: 126,934,348 (GRCm39)		probably benign	Het
Oxa1l	T	G	14: 54,605,121 (GRCm39)	V11G	possibly damaging	Het
Padi1	A	G	4: 140,542,141 (GRCm39)	Y594H	probably benign	Het
Polr1a	T	A	6: 71,903,667 (GRCm39)	F327I	probably benign	Het
Prf1	G	T	10: 61,135,972 (GRCm39)	A83S	probably benign	Het
Ptgs2	A	G	1: 149,981,127 (GRCm39)	E470G	probably benign	Het
Rictor	G	A	15: 6,823,487 (GRCm39)	E1555K	probably benign	Het
Skint8	C	A	4: 111,807,390 (GRCm39)	L359M	probably damaging	Het
Slc19a2	A	G	1: 164,091,025 (GRCm39)	I278V	probably benign	Het
Smco1	A	T	16: 32,092,674 (GRCm39)	N115I	probably damaging	Het
Smyd3	G	A	1: 178,871,420 (GRCm39)	L320F	probably damaging	Het
Svil	T	A	18: 5,098,900 (GRCm39)		probably null	Het
Syne2	A	G	12: 76,144,749 (GRCm39)	D1566G	probably damaging	Het
Tpm2	T	C	4: 43,523,296 (GRCm39)	D20G	probably damaging	Het
Ubap1l	A	G	9: 65,281,045 (GRCm39)	Y241C	probably damaging	Het
Usp15	A	G	10: 122,960,417 (GRCm39)		probably null	Het
Wdr45b	A	G	11: 121,221,923 (GRCm39)		probably benign	Het
Zc3h14	A	G	12: 98,745,414 (GRCm39)	I468V	probably damaging	Het
Zfp703	C	T	8: 27,469,233 (GRCm39)	P299L	probably 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
IGL03127:Ccdc141	APN	2	76,859,579 (GRCm39)	critical splice donor site	probably null
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
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

Predicted Primers

PCR Primer
(F):5'- CATGCTCAGAACAATTCCTTTTCTG -3'
(R):5'- GAACCTATTCTTTCCAAAGTGCAC -3'

Sequencing Primer
(F):5'- CCTTTTCTGAAGTAGCATTATGGC -3'
(R):5'- TCTTTCCAAAGTGCACTTACAGTG -3'

Posted On

2017-02-10