Mutagenetix > Incidental Mutation

Incidental Mutation 'R9048:Ccdc141'

688164

Institutional Source

Beutler Lab

Gene Symbol

Ccdc141

Ensembl Gene

ENSMUSG00000044033

Gene Name

coiled-coil domain containing 141

Synonyms

ENSMUSG00000075261, CAMDI, 2610301F02Rik

MMRRC Submission

068874-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9048 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

76840246-77000980 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 76853872 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 1092 (K1092R)

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: K1092R

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

SMART Domains

Protein: ENSMUSP00000052945
Gene: ENSMUSG00000044033
AA Change: K1092R

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: K1092R

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000128736
Gene: ENSMUSG00000044033
AA Change: K1092R

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

100% (53/53)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahcyl	A	T	16: 45,974,558 (GRCm39)	V273D	probably damaging	Het
Als2	C	T	1: 59,225,670 (GRCm39)	V947M	possibly damaging	Het
Bltp1	T	C	3: 37,065,926 (GRCm39)	S67P		Het
Bmp6	C	T	13: 38,682,778 (GRCm39)	T453I	probably damaging	Het
Ces1f	T	C	8: 93,989,695 (GRCm39)	D407G	probably benign	Het
Cfap46	G	T	7: 139,207,259 (GRCm39)	H1887N	unknown	Het
Cldn10	G	A	14: 119,025,656 (GRCm39)	V30M	probably damaging	Het
Col4a1	T	A	8: 11,281,944 (GRCm39)		probably benign	Het
Cyria	G	A	12: 12,412,286 (GRCm39)	A183T	probably damaging	Het
Dmac2l	C	T	12: 69,787,752 (GRCm39)	R63C	probably damaging	Het
Enpp7	A	G	11: 118,881,455 (GRCm39)	H200R	probably damaging	Het
Entrep3	T	C	3: 89,093,048 (GRCm39)	Y269H	probably damaging	Het
Epb41l3	C	T	17: 69,517,218 (GRCm39)	A82V	probably benign	Het
Exph5	A	G	9: 53,284,935 (GRCm39)	H672R	possibly damaging	Het
Glce	A	T	9: 61,967,413 (GRCm39)	Y579*	probably null	Het
Gm9507	G	A	10: 77,647,245 (GRCm39)	P145S	unknown	Het
Igf2	A	T	7: 142,207,759 (GRCm39)	F113I	probably benign	Het
Il1a	T	C	2: 129,148,441 (GRCm39)	S90G	probably benign	Het
Kalrn	A	G	16: 33,854,854 (GRCm39)	I2002T	possibly damaging	Het
Kng2	G	A	16: 22,806,522 (GRCm39)	T559I	probably benign	Het
Leng8	A	G	7: 4,146,931 (GRCm39)		probably benign	Het
Lpcat2	G	T	8: 93,635,878 (GRCm39)	A427S	probably benign	Het
Mapk14	A	G	17: 28,947,358 (GRCm39)	T175A	probably benign	Het
Mei1	C	A	15: 81,969,036 (GRCm39)	S329*	probably null	Het
Mfsd2a	A	G	4: 122,854,768 (GRCm39)	I20T	probably benign	Het
Mtcl1	T	C	17: 66,678,331 (GRCm39)	N665S	probably benign	Het
Mup5	T	A	4: 61,750,612 (GRCm39)	Q177L	probably benign	Het
Nkx6-2	A	G	7: 139,161,876 (GRCm39)	F167S	probably damaging	Het
Or10j5	T	C	1: 172,784,929 (GRCm39)	V189A	probably benign	Het
Or13c7b	T	C	4: 43,820,584 (GRCm39)	Y259C	probably damaging	Het
Or2t26	G	A	11: 49,039,830 (GRCm39)	V249I	probably damaging	Het
Or2y1c	T	A	11: 49,361,880 (GRCm39)	W301R	probably benign	Het
Or55b3	A	T	7: 102,126,684 (GRCm39)	I131N	probably damaging	Het
Or5h18	G	A	16: 58,847,598 (GRCm39)	T224I	probably benign	Het
Pgap6	T	C	17: 26,340,515 (GRCm39)	V633A	probably damaging	Het
Phyh	A	T	2: 4,932,249 (GRCm39)	M112L	probably benign	Het
Pip5k1c	C	A	10: 81,152,710 (GRCm39)		probably benign	Het
Pkn1	G	A	8: 84,424,663 (GRCm39)	R11C	possibly damaging	Het
Podn	G	C	4: 107,878,596 (GRCm39)	R424G	probably damaging	Het
Ptdss2	A	G	7: 140,732,797 (GRCm39)	D222G	probably damaging	Het
Ryk	A	T	9: 102,774,468 (GRCm39)	M401L	probably benign	Het
Sec61g	A	G	11: 16,458,129 (GRCm39)	V22A	probably benign	Het
Septin8	A	G	11: 53,427,530 (GRCm39)	N250D	probably damaging	Het
Siglecg	T	C	7: 43,058,003 (GRCm39)	L7P	probably benign	Het
Sin3a	A	G	9: 57,032,620 (GRCm39)	D1188G	probably damaging	Het
Sipa1l2	G	A	8: 126,174,465 (GRCm39)	T1271M	possibly damaging	Het
Stard9	T	A	2: 120,508,415 (GRCm39)	L241H	probably damaging	Het
Stx8	A	G	11: 67,902,211 (GRCm39)	T132A	probably damaging	Het
Stxbp2	A	G	8: 3,687,218 (GRCm39)	I403V		Het
Stxbp3	A	T	3: 108,723,704 (GRCm39)	M177K	probably benign	Het
Supt16	T	A	14: 52,418,513 (GRCm39)	Q248L	probably damaging	Het
Vmn2r91	A	T	17: 18,356,122 (GRCm39)	L596F	probably benign	Het
Zkscan3	T	C	13: 21,580,686 (GRCm39)	M1V	probably null	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
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
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'- GAATGCTGTGAAACAAATGTGC -3'
(R):5'- AATGCCTGCATTCACTGATTTC -3'

Sequencing Primer
(F):5'- GCCTCTTGAGAATTTGTTGTAGAAC -3'
(R):5'- GCATTCACTGATTTCTGTTCATTGTG -3'

Posted On

2021-11-19