Mutagenetix > Incidental Mutation

Incidental Mutation 'R4334:Ccdc141'

323679

Institutional Source

Beutler Lab

Gene Symbol

Ccdc141

Ensembl Gene

ENSMUSG00000044033

Gene Name

coiled-coil domain containing 141

Synonyms

ENSMUSG00000075261, CAMDI, 2610301F02Rik

MMRRC Submission

041664-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4334 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

76840246-77000980 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 77000776 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 19 (V19I)

Ref Sequence

ENSEMBL: ENSMUSP00000120312 (fasta)

Gene Model

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

AlphaFold

E9Q8Q6

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000028406

Predicted Effect

probably damaging
Transcript: ENSMUST00000049544
AA Change: V19I

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000052945
Gene: ENSMUSG00000044033
AA Change: V19I

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: V19I

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

SMART Domains

Protein: ENSMUSP00000107464
Gene: ENSMUSG00000044033
AA Change: V19I

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: V19I

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

SMART Domains

Protein: ENSMUSP00000120312
Gene: ENSMUSG00000044033
AA Change: V19I

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: V19I

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000128736
Gene: ENSMUSG00000044033
AA Change: V19I

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

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	A	T	17: 24,537,242 (GRCm39)	V447E	probably damaging	Het
Adcyap1	T	C	17: 93,509,696 (GRCm39)	L49P	probably benign	Het
B4galt4	T	C	16: 38,572,621 (GRCm39)	I102T	probably damaging	Het
Cc2d2a	A	G	5: 43,840,476 (GRCm39)	D110G	probably benign	Het
Ccdc39	A	G	3: 33,892,031 (GRCm39)	L147P	probably damaging	Het
Cdc5l	A	T	17: 45,721,712 (GRCm39)	D519E	probably benign	Het
Cdh23	G	T	10: 60,220,838 (GRCm39)	T1305K	probably damaging	Het
Cfi	T	A	3: 129,644,478 (GRCm39)	V158D	possibly damaging	Het
Clstn2	T	G	9: 97,345,581 (GRCm39)	Y589S	probably damaging	Het
Dsp	A	G	13: 38,380,640 (GRCm39)	K1863E	possibly damaging	Het
Enpp3	A	T	10: 24,669,487 (GRCm39)	M491K	probably damaging	Het
Fhdc1	C	A	3: 84,352,133 (GRCm39)	V1031F	probably benign	Het
Fkbp15	G	A	4: 62,221,456 (GRCm39)	A1170V	possibly damaging	Het
Foxa2	T	C	2: 147,886,623 (GRCm39)	N64S	possibly damaging	Het
Foxm1	T	C	6: 128,342,930 (GRCm39)	I88T	probably damaging	Het
Gm3173	A	T	14: 15,728,364 (GRCm39)	I8L	possibly damaging	Het
Gpatch3	A	G	4: 133,309,792 (GRCm39)	D375G	probably damaging	Het
Herc2	T	C	7: 55,876,402 (GRCm39)	F4436L	probably damaging	Het
Htr3b	G	A	9: 48,856,809 (GRCm39)	A223V	probably damaging	Het
Iars2	T	A	1: 185,035,591 (GRCm39)	T550S	probably benign	Het
Igsf9	A	T	1: 172,321,779 (GRCm39)	K149*	probably null	Het
Khnyn	A	G	14: 56,131,499 (GRCm39)	D536G	probably damaging	Het
Kng1	T	C	16: 22,898,370 (GRCm39)	V409A	possibly damaging	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,758,813 (GRCm39)		probably benign	Het
Madd	C	T	2: 90,970,917 (GRCm39)	V1508I	probably benign	Het
Micall2	T	C	5: 139,699,105 (GRCm39)	E527G	probably damaging	Het
Myo7b	A	G	18: 32,110,040 (GRCm39)	S1141P	probably damaging	Het
Ncoa2	G	A	1: 13,245,187 (GRCm39)	P504S	possibly damaging	Het
Notch1	G	A	2: 26,350,048 (GRCm39)	T2364I	probably benign	Het
Pde4c	T	A	8: 71,202,475 (GRCm39)		probably null	Het
Pik3cb	A	G	9: 98,943,904 (GRCm39)	L633P	probably damaging	Het
Ranbp2	T	A	10: 58,299,816 (GRCm39)	D483E	probably damaging	Het
Sh3tc2	A	G	18: 62,123,392 (GRCm39)	N718D	probably damaging	Het
Spast	G	A	17: 74,659,010 (GRCm39)	A126T	probably damaging	Het
Ssc5d	T	C	7: 4,946,663 (GRCm39)	S1006P	probably benign	Het
Tmprss6	T	A	15: 78,343,627 (GRCm39)		probably null	Het
Ulk1	C	T	5: 110,937,223 (GRCm39)	R691Q	probably benign	Het
Unc79	C	T	12: 103,045,233 (GRCm39)	T803M	probably benign	Het
Vmn2r118	A	T	17: 55,917,347 (GRCm39)	F388L	possibly damaging	Het
Vmn2r71	T	C	7: 85,269,042 (GRCm39)	V415A	probably benign	Het
Wdr4	A	T	17: 31,718,126 (GRCm39)	F316Y	possibly damaging	Het
Zfp810	T	C	9: 22,190,080 (GRCm39)	Y276C	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- TGCCAACTTGTTGGAACTTAGC -3'
(R):5'- TTCCTTTTGGCCGGGCAATC -3'

Sequencing Primer
(F):5'- AGCAGTCCTCTGTCACGGATTTAAG -3'
(R):5'- CCGGGCAATCAGTGTGAAC -3'

Posted On

2015-06-24