Mutagenetix > Incidental Mutation

Incidental Mutation 'R5539:Ccdc141'

435807

Institutional Source

Beutler Lab

Gene Symbol

Ccdc141

Ensembl Gene

ENSMUSG00000044033

Gene Name

coiled-coil domain containing 141

Synonyms

ENSMUSG00000075261, CAMDI, 2610301F02Rik

MMRRC Submission

043097-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5539 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

76840246-77000980 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 76845437 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 1210 (I1210N)

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: I1210N

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

SMART Domains

Protein: ENSMUSP00000052945
Gene: ENSMUSG00000044033
AA Change: I1210N

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: ENSMUST00000164114
AA Change: I1210N

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000128736
Gene: ENSMUSG00000044033
AA Change: I1210N

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

unknown
Transcript: ENSMUST00000179868
AA Change: I53N

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180261

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.1%

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310034C09Rik	A	T	16: 88,555,917 (GRCm39)	S44C	probably damaging	Het
Abca4	A	G	3: 121,963,557 (GRCm39)	I846V	probably damaging	Het
Aldh4a1	T	C	4: 139,365,833 (GRCm39)	S275P	probably benign	Het
Arhgap12	A	T	18: 6,111,932 (GRCm39)	L144H	probably benign	Het
Ccdc175	T	C	12: 72,191,587 (GRCm39)	T330A	probably benign	Het
Cybb	C	G	X: 9,316,989 (GRCm39)	D246H	probably benign	Het
Dnah17	T	C	11: 117,964,486 (GRCm39)	K2444E	probably benign	Het
Dnajc3	G	A	14: 119,208,159 (GRCm39)	V265M	probably damaging	Het
Flg2	T	A	3: 93,127,753 (GRCm39)	Y2222N	unknown	Het
Flnc	G	T	6: 29,446,229 (GRCm39)	G882V	probably damaging	Het
Fndc5	T	A	4: 129,032,514 (GRCm39)	V39D	probably damaging	Het
Gabrr3	A	T	16: 59,281,758 (GRCm39)	H371L	probably benign	Het
Gm10717	A	T	9: 3,030,438 (GRCm39)	H33L	probably damaging	Het
Gm5422	A	G	10: 31,124,646 (GRCm39)		noncoding transcript	Het
Kri1	G	A	9: 21,190,668 (GRCm39)	Q280*	probably null	Het
Lcp1	T	C	14: 75,466,738 (GRCm39)	V615A	probably benign	Het
Ltbp4	T	C	7: 27,027,149 (GRCm39)	Y407C	probably damaging	Het
Med30	G	T	15: 52,584,462 (GRCm39)	D127Y	probably damaging	Het
Mybpc2	A	G	7: 44,164,317 (GRCm39)	V416A	probably benign	Het
Notch2	C	T	3: 98,044,898 (GRCm39)	R1607C	probably damaging	Het
Nr4a3	T	A	4: 48,056,525 (GRCm39)		probably null	Het
Ntf5	G	T	7: 45,065,354 (GRCm39)	R162L	probably benign	Het
Nxpe3	A	G	16: 55,711,034 (GRCm39)	W2R	possibly damaging	Het
Or10d1c	T	C	9: 38,893,573 (GRCm39)	I256V	possibly damaging	Het
Or14j4	T	A	17: 37,921,646 (GRCm39)	M1L	probably benign	Het
Or1m1	G	A	9: 18,666,134 (GRCm39)	R266C	probably damaging	Het
Or5p58	A	T	7: 107,694,433 (GRCm39)	C115S	probably benign	Het
Pan2	C	A	10: 128,144,002 (GRCm39)	D99E	probably benign	Het
Pcdh12	T	C	18: 38,414,797 (GRCm39)	H776R	possibly damaging	Het
Prdm2	T	C	4: 142,859,264 (GRCm39)	H1342R	possibly damaging	Het
Prpf8	A	G	11: 75,394,464 (GRCm39)	T1800A	probably benign	Het
Prss40	T	C	1: 34,591,760 (GRCm39)	*148W	probably null	Het
Pygo1	C	T	9: 72,852,061 (GRCm39)	P83S	probably damaging	Het
Raf1	G	T	6: 115,596,317 (GRCm39)	S619R	probably damaging	Het
Rtf1	A	G	2: 119,560,405 (GRCm39)	M596V	possibly damaging	Het
Slc12a5	T	A	2: 164,829,126 (GRCm39)	D578E	possibly damaging	Het
Slc35b4	A	G	6: 34,153,737 (GRCm39)	V18A	probably damaging	Het
Spata31	T	A	13: 65,070,783 (GRCm39)	I977K	probably benign	Het
Tor2a	T	C	2: 32,650,672 (GRCm39)	I222T	probably damaging	Het
Trim23	T	C	13: 104,334,541 (GRCm39)	V347A	probably damaging	Het
Trip11	A	G	12: 101,851,386 (GRCm39)	S893P	probably damaging	Het
Trmt10c	G	A	16: 55,855,324 (GRCm39)	P104S	probably damaging	Het
Ubr3	A	T	2: 69,850,877 (GRCm39)	Y1765F	probably damaging	Het
Zfp951	C	T	5: 104,962,712 (GRCm39)	E285K	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
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

Predicted Primers

PCR Primer
(F):5'- ATCCGCAAAGGCAATGGGTG -3'
(R):5'- CTGGGGAAAGCAGTGTATCC -3'

Sequencing Primer
(F):5'- TGAGGGAAGAGCAGACTCCTG -3'
(R):5'- GTGTATCCACCTAATGTAACCGTGG -3'

Posted On

2016-10-24