Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01543:Ccdc152'

90223

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ccdc152

Ensembl Gene

ENSMUSG00000091119

Gene Name

coiled-coil domain containing 152

Synonyms

ENSMUSG00000071814

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.201) question?

Stock #

IGL01543

Quality Score

Status

Chromosome

Chromosomal Location

3309552-3333008 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 3327606 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 57 (T57I)

Ref Sequence

ENSEMBL: ENSMUSP00000153730 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000165386] [ENSMUST00000226261] [ENSMUST00000228405]

AlphaFold

E9PX14

Predicted Effect

possibly damaging
Transcript: ENSMUST00000165386
AA Change: T57I

PolyPhen 2 Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000129305
Gene: ENSMUSG00000091119
AA Change: T57I

Domain	Start	End	E-Value	Type
coiled coil region	76	186	N/A	INTRINSIC
coiled coil region	211	250	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000226261
AA Change: T57I

PolyPhen 2 Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000228405
AA Change: T57I

PolyPhen 2 Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2	T	C	3: 59,932,097 (GRCm39)	I204T	probably benign	Het
Abhd16a	T	C	17: 35,310,013 (GRCm39)	S69P	probably damaging	Het
Ampd1	C	T	3: 103,003,029 (GRCm39)	T582I	probably benign	Het
Arap3	G	A	18: 38,123,889 (GRCm39)	R377C	probably damaging	Het
Arid1a	A	T	4: 133,409,033 (GRCm39)	F1825I	unknown	Het
Asxl1	G	A	2: 153,243,404 (GRCm39)	G1318D	probably benign	Het
B4galnt3	G	A	6: 120,186,273 (GRCm39)	H807Y	probably benign	Het
Bpifb5	G	T	2: 154,075,169 (GRCm39)	V366F	possibly damaging	Het
Caskin1	T	C	17: 24,723,522 (GRCm39)	V770A	probably benign	Het
Ccs	T	C	19: 4,884,269 (GRCm39)	E61G	possibly damaging	Het
Chsy3	G	A	18: 59,543,472 (GRCm39)	W870*	probably null	Het
Col8a1	G	A	16: 57,448,097 (GRCm39)	P471L	unknown	Het
Cyp2j6	A	C	4: 96,414,161 (GRCm39)	V368G	possibly damaging	Het
Dnajc3	T	C	14: 119,198,274 (GRCm39)		probably null	Het
Dpep3	A	T	8: 106,702,814 (GRCm39)	M316K	probably damaging	Het
Galntl5	A	G	5: 25,400,349 (GRCm39)	E126G	probably damaging	Het
Gli1	T	C	10: 127,168,347 (GRCm39)	N502S	probably damaging	Het
Hus1	A	G	11: 8,950,082 (GRCm39)	L213P	probably benign	Het
Hypk	A	G	2: 121,287,776 (GRCm39)		probably null	Het
Igkv4-59	T	A	6: 69,415,345 (GRCm39)	Y70F	probably damaging	Het
Impdh1	A	C	6: 29,203,377 (GRCm39)	V14G	probably damaging	Het
Kif26b	A	G	1: 178,506,526 (GRCm39)	M201V	probably benign	Het
Macf1	A	G	4: 123,295,250 (GRCm39)	I5323T	probably damaging	Het
Mmp16	C	T	4: 18,051,743 (GRCm39)	A244V	probably damaging	Het
Obscn	T	C	11: 58,932,943 (GRCm39)	D5619G	probably benign	Het
Or2ag20	T	C	7: 106,465,125 (GRCm39)	S313P	probably benign	Het
Pcdh7	T	C	5: 57,878,107 (GRCm39)	V554A	probably damaging	Het
Piezo2	T	C	18: 63,203,101 (GRCm39)	E1513G	probably damaging	Het
Rab6b	A	G	9: 103,039,837 (GRCm39)	D75G	probably damaging	Het
Ryr1	T	C	7: 28,790,501 (GRCm39)	Y1435C	probably damaging	Het
Scarf2	A	G	16: 17,620,413 (GRCm39)	N81S	probably damaging	Het
Six5	G	A	7: 18,830,272 (GRCm39)	A300T	possibly damaging	Het
Skap2	T	A	6: 51,989,375 (GRCm39)	N3Y	possibly damaging	Het
Skint6	A	T	4: 112,757,160 (GRCm39)	S734T	probably benign	Het
Slc15a4	A	C	5: 127,680,830 (GRCm39)	H396Q	probably benign	Het
Slco6c1	A	G	1: 97,053,553 (GRCm39)	M116T	possibly damaging	Het
Slfn9	T	C	11: 82,878,775 (GRCm39)	D118G	probably benign	Het
Trim3	T	C	7: 105,262,520 (GRCm39)	D546G	probably damaging	Het
Trpa1	A	G	1: 14,970,300 (GRCm39)	L362P	probably damaging	Het
Vasn	A	G	16: 4,467,756 (GRCm39)	T568A	possibly damaging	Het
Vwa5b2	A	G	16: 20,414,466 (GRCm39)	M281V	probably benign	Het
Wwp2	A	G	8: 108,210,000 (GRCm39)	E126G	probably damaging	Het
Zfp398	G	A	6: 47,842,997 (GRCm39)	G350S	probably damaging	Het

Other mutations in Ccdc152

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01466:Ccdc152	APN	15	3,323,329 (GRCm39)	splice site	probably benign
R0622:Ccdc152	UTSW	15	3,327,660 (GRCm39)	missense	probably damaging	0.96
R1605:Ccdc152	UTSW	15	3,327,603 (GRCm39)	missense	probably damaging	0.99
R2875:Ccdc152	UTSW	15	3,327,663 (GRCm39)	missense	probably damaging	1.00
R2876:Ccdc152	UTSW	15	3,327,663 (GRCm39)	missense	probably damaging	1.00
R4990:Ccdc152	UTSW	15	3,330,639 (GRCm39)	missense	probably benign	0.00
R5114:Ccdc152	UTSW	15	3,312,319 (GRCm39)	missense	probably damaging	0.99
R5732:Ccdc152	UTSW	15	3,321,860 (GRCm39)	critical splice donor site	probably null
R6336:Ccdc152	UTSW	15	3,330,611 (GRCm39)	missense	probably damaging	1.00
R6704:Ccdc152	UTSW	15	3,310,195 (GRCm39)	missense	probably damaging	1.00
R7593:Ccdc152	UTSW	15	3,310,137 (GRCm39)	missense	probably damaging	1.00
R8300:Ccdc152	UTSW	15	3,327,634 (GRCm39)	missense	probably benign	0.00
R9061:Ccdc152	UTSW	15	3,330,643 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-12-03