Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01396:Ccdc141'

79466

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ccdc141

Ensembl Gene

ENSMUSG00000044033

Gene Name

coiled-coil domain containing 141

Synonyms

ENSMUSG00000075261, CAMDI, 2610301F02Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01396

Quality Score

Status

Chromosome

Chromosomal Location

76840246-77000980 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 76958669 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 144 (I144L)

Ref Sequence

ENSEMBL: ENSMUSP00000052945 (fasta)

Gene Model

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

AlphaFold

E9Q8Q6

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000028406

Predicted Effect

possibly damaging
Transcript: ENSMUST00000049544
AA Change: I144L

PolyPhen 2 Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000052945
Gene: ENSMUSG00000044033
AA Change: I144L

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: ENSMUST00000131660

Predicted Effect

probably benign
Transcript: ENSMUST00000133503

SMART Domains

Protein: ENSMUSP00000120312
Gene: ENSMUSG00000044033

Domain	Start	End	E-Value	Type
Blast:SPEC	26	60	4e-17	BLAST
low complexity region	61	76	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000164114
AA Change: I144L

PolyPhen 2 Score 0.149 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000128736
Gene: ENSMUSG00000044033
AA Change: I144L

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

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310003L06Rik	T	A	5: 88,120,649 (GRCm39)	Y469N	probably benign	Het
Actl11	T	C	9: 107,805,964 (GRCm39)	S96P	possibly damaging	Het
Ankrd13b	T	A	11: 77,363,198 (GRCm39)		probably null	Het
Apobec4	T	A	1: 152,632,017 (GRCm39)	I15K	probably damaging	Het
Arhgef28	G	T	13: 98,090,401 (GRCm39)	D1039E	probably damaging	Het
Atp1a1	C	T	3: 101,498,769 (GRCm39)	G175R	probably damaging	Het
AU040320	T	A	4: 126,763,171 (GRCm39)		probably benign	Het
Bcl9l	G	A	9: 44,418,121 (GRCm39)	R653H	probably damaging	Het
Cdh20	C	T	1: 104,875,154 (GRCm39)	T312I	possibly damaging	Het
Cdh23	C	T	10: 60,220,848 (GRCm39)	V1297I	possibly damaging	Het
Cfap57	T	C	4: 118,467,792 (GRCm39)	Y315C	probably damaging	Het
Chd8	A	G	14: 52,442,044 (GRCm39)		probably benign	Het
Cog5	A	G	12: 31,944,095 (GRCm39)	D660G	probably benign	Het
Cps1	T	C	1: 67,196,945 (GRCm39)	I332T	probably damaging	Het
Csgalnact2	T	C	6: 118,103,288 (GRCm39)	T225A	probably damaging	Het
Dchs1	A	G	7: 105,421,490 (GRCm39)	L310P	probably damaging	Het
Dgki	T	C	6: 36,977,025 (GRCm39)	N695S	probably damaging	Het
Gas7	T	A	11: 67,543,740 (GRCm39)		probably null	Het
Gm21286	T	C	4: 60,794,323 (GRCm39)		noncoding transcript	Het
Gm4799	C	T	10: 82,790,518 (GRCm39)		noncoding transcript	Het
Hdac4	T	C	1: 91,887,196 (GRCm39)		probably benign	Het
Hif1a	T	A	12: 73,987,307 (GRCm39)	S467T	probably benign	Het
Ier5	A	G	1: 154,974,296 (GRCm39)	V294A	probably damaging	Het
Ifna11	T	C	4: 88,738,314 (GRCm39)	V40A	probably benign	Het
Itga9	T	C	9: 118,436,191 (GRCm39)		probably benign	Het
Lbx1	G	T	19: 45,222,670 (GRCm39)	Q118K	probably benign	Het
Lta	A	T	17: 35,423,061 (GRCm39)		probably null	Het
Matr3	A	G	18: 35,721,442 (GRCm39)	Y471C	probably damaging	Het
Nrg2	A	T	18: 36,178,905 (GRCm39)		probably benign	Het
Or4c103	C	T	2: 88,513,575 (GRCm39)	C167Y	probably damaging	Het
Or4k51	T	C	2: 111,584,848 (GRCm39)	F85L	probably benign	Het
Or4k51	T	A	2: 111,584,948 (GRCm39)	M118K	probably damaging	Het
Or5l13	G	T	2: 87,780,207 (GRCm39)	F123L	probably damaging	Het
Patl1	A	G	19: 11,901,247 (GRCm39)	K299R	probably damaging	Het
Pdgfrb	A	G	18: 61,205,736 (GRCm39)	E574G	probably damaging	Het
Phf3	G	A	1: 30,843,386 (GRCm39)	Q1858*	probably null	Het
Prkca	T	C	11: 107,905,148 (GRCm39)	K197E	possibly damaging	Het
Psmc6	C	A	14: 45,581,124 (GRCm39)	Q307K	probably benign	Het
Rasa1	T	C	13: 85,406,561 (GRCm39)	I181V	probably benign	Het
Scel	A	G	14: 103,845,530 (GRCm39)		probably benign	Het
Scn5a	A	T	9: 119,363,770 (GRCm39)	S457T	probably damaging	Het
Sesn3	A	G	9: 14,232,374 (GRCm39)	T216A	probably benign	Het
Slc25a21	A	G	12: 57,205,974 (GRCm39)	V19A	probably benign	Het
Slc34a1	A	G	13: 55,550,546 (GRCm39)	T81A	probably damaging	Het
Slc35a5	A	G	16: 44,971,866 (GRCm39)	Y117H	probably damaging	Het
Sptbn4	A	G	7: 27,114,196 (GRCm39)	V569A	probably benign	Het
Sqle	A	G	15: 59,195,723 (GRCm39)	Y333C	probably damaging	Het
Svep1	T	C	4: 58,068,552 (GRCm39)	E3078G	possibly damaging	Het
Tacc2	T	A	7: 130,360,919 (GRCm39)	I2737N	probably damaging	Het
Tet3	A	T	6: 83,346,620 (GRCm39)	Y1272*	probably null	Het
Tnr	G	T	1: 159,724,594 (GRCm39)	R1095L	possibly damaging	Het
Vmn1r184	T	C	7: 25,966,862 (GRCm39)	S203P	probably damaging	Het
Vmn2r94	A	G	17: 18,477,301 (GRCm39)	L370P	probably damaging	Het
Xrcc5	A	G	1: 72,393,404 (GRCm39)	H559R	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
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
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

Posted On

2013-11-05