Mutagenetix > Incidental Mutation

Incidental Mutation 'R8992:Ccdc141'

684452

Institutional Source

Beutler Lab

Gene Symbol

Ccdc141

Ensembl Gene

ENSMUSG00000044033

Gene Name

coiled-coil domain containing 141

Synonyms

ENSMUSG00000075261, 2610301F02Rik, CAMDI

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8992 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

77009902-77170636 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 77014395 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 1443 (W1443R)

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: W1443R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000052945
Gene: ENSMUSG00000044033
AA Change: W1443R

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: W1443R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000128736
Gene: ENSMUSG00000044033
AA Change: W1443R

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

probably benign
Transcript: ENSMUST00000179868

Meta Mutation Damage Score

0.3202

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

100% (75/75)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd14b	A	G	9: 106,451,618	D146G	probably benign	Het
Abhd6	T	A	14: 8,028,282	D4E	probably benign	Het
Atpif1	T	C	4: 132,533,374	D34G	probably benign	Het
Bcr	T	C	10: 75,131,572	F546S	probably damaging	Het
Bean1	CT	C	8: 104,182,032		probably null	Het
Chd7	A	G	4: 8,839,589	D1375G	probably damaging	Het
Chil1	A	T	1: 134,187,924	Q223H	probably benign	Het
Clcn2	A	T	16: 20,712,330	F260I	probably damaging	Het
Cpq	A	T	15: 33,594,235	D464V	probably benign	Het
Crygb	T	C	1: 65,082,141	D9G	probably damaging	Het
Cyp2b10	A	G	7: 25,925,390	K438E	unknown	Het
Cyp46a1	A	T	12: 108,358,107	D381V	possibly damaging	Het
Dhx40	A	C	11: 86,776,756		probably benign	Het
Dnase2b	G	T	3: 146,586,962	P152Q	probably damaging	Het
Duox1	A	T	2: 122,344,705	H1328L	probably damaging	Het
Ephb6	C	T	6: 41,613,359	A15V	probably benign	Het
Fam168b	A	G	1: 34,819,781	F102L	probably benign	Het
Fam3b	T	A	16: 97,476,394	D128V	probably damaging	Het
Galnt11	T	G	5: 25,264,985	H527Q	possibly damaging	Het
Gbp2b	A	T	3: 142,610,969	R460S	probably benign	Het
Gm7534	G	A	4: 134,202,667	T109I	probably damaging	Het
Hdhd2	A	C	18: 76,970,670	S246R	possibly damaging	Het
Heatr1	T	C	13: 12,401,114	M189T	probably damaging	Het
Ino80	A	G	2: 119,379,578	S1411P	possibly damaging	Het
Jakmip1	A	G	5: 37,117,538	T467A	probably benign	Het
Kcnh2	A	G	5: 24,331,870	S239P	probably benign	Het
Lct	T	A	1: 128,300,562	T1065S	probably damaging	Het
Lrrc66	T	C	5: 73,629,884	D41G	probably benign	Het
Mfsd2b	A	T	12: 4,871,490	D26E	probably benign	Het
Myh1	A	T	11: 67,205,781	M333L	probably benign	Het
Neurl4	T	C	11: 69,908,132	V855A	possibly damaging	Het
Nfkb2	T	A	19: 46,306,865	V80D	probably damaging	Het
Nop9	T	C	14: 55,745,981	S70P	possibly damaging	Het
Olfr325	A	G	11: 58,580,912	S23G	probably benign	Het
Pcdhb14	G	T	18: 37,449,178	D446Y	probably damaging	Het
Pclo	C	T	5: 14,669,311	A1154V	unknown	Het
Pdgfa	G	T	5: 138,986,222	Q141K	probably damaging	Het
Plekhh1	G	T	12: 79,075,533	L1133F	probably damaging	Het
Pole	A	T	5: 110,323,622	N1411Y	possibly damaging	Het
Primpol	A	G	8: 46,581,562		probably benign	Het
Psmc5	T	G	11: 106,261,961	V203G	probably damaging	Het
Ptgdr	C	T	14: 44,858,724	C177Y	probably damaging	Het
Ptgir	A	T	7: 16,907,295	I171F	probably damaging	Het
Ptprg	T	A	14: 12,154,170	H630Q	probably benign	Het
Ptrh2	A	G	11: 86,690,081	T175A	possibly damaging	Het
Ralgapb	A	G	2: 158,454,277	T857A	probably damaging	Het
Rnf24	A	G	2: 131,313,277	F10S	possibly damaging	Het
Rreb1	C	A	13: 37,930,376	S570R	probably benign	Het
Rttn	A	G	18: 88,977,708	N205S	probably benign	Het
Rusc1	T	C	3: 89,092,058	E139G	probably benign	Het
Scn2a	A	G	2: 65,763,898	N1697S	probably damaging	Het
Serpinb3a	T	A	1: 107,047,177	M209L	probably damaging	Het
Shank3	A	G	15: 89,548,685	D1211G	possibly damaging	Het
Slc22a12	C	A	19: 6,542,484	R90L	possibly damaging	Het
Slc6a13	G	A	6: 121,336,942	W548*	probably null	Het
Srfbp1	T	A	18: 52,476,320	L59*	probably null	Het
Ss18	A	T	18: 14,670,323	S73T	probably damaging	Het
Syne1	T	C	10: 5,185,508	K189R	probably benign	Het
Szt2	G	T	4: 118,382,788		probably benign	Het
Tbx1	T	A	16: 18,584,187	H183L	probably damaging	Het
Thop1	A	G	10: 81,080,138	E385G	possibly damaging	Het
Tmem168	C	A	6: 13,602,850	M172I	possibly damaging	Het
Tmem67	A	G	4: 12,058,559	Y513H	probably damaging	Het
Top1	A	G	2: 160,721,001	D709G	probably damaging	Het
Tprgl	A	C	4: 154,158,433	S247A	probably damaging	Het
Trim46	A	G	3: 89,236,385	S602P	probably damaging	Het
Ttc30a1	A	T	2: 75,979,907	C611S	probably benign	Het
Ttc7b	T	C	12: 100,500,174	K60E	probably benign	Het
Ttn	G	A	2: 76,884,471	S8053F	unknown	Het
Tyw1	G	A	5: 130,269,224	R202Q	probably damaging	Het
Usp24	T	A	4: 106,377,565	H956Q	probably benign	Het
Vcp	T	C	4: 42,980,828	T761A	probably benign	Het
Xpc	G	A	6: 91,500,974	T309I	possibly damaging	Het
Zfp560	C	T	9: 20,349,599	M129I	probably benign	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
IGL01633:Ccdc141	APN	2	77089249	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
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

Predicted Primers

PCR Primer
(F):5'- GTTAGATGGTTACTCCCCACCC -3'
(R):5'- ATGCTGCCCTTGATGTGTCC -3'

Sequencing Primer
(F):5'- CCACGGCATTACAAAGCTTTTAG -3'
(R):5'- TGGCCTCGGCTCTCAAC -3'

Posted On

2021-10-11