Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03293:Ccdc62'

415961

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ccdc62

Ensembl Gene

ENSMUSG00000061882

Gene Name

coiled-coil domain containing 62

Synonyms

repro29, LOC208908, G1-485-3

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03293

Quality Score

Status

Chromosome

Chromosomal Location

124068742-124107958 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 124089288 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Isoleucine at position 309 (L309I)

Ref Sequence

ENSEMBL: ENSMUSP00000127483 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094320] [ENSMUST00000165148]

AlphaFold

E9PVD1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000094320
AA Change: L309I

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000091878
Gene: ENSMUSG00000061882
AA Change: L309I

Domain	Start	End	E-Value	Type
coiled coil region	61	197	N/A	INTRINSIC
coiled coil region	241	297	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000165148
AA Change: L309I

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000127483
Gene: ENSMUSG00000061882
AA Change: L309I

Domain	Start	End	E-Value	Type
coiled coil region	61	197	N/A	INTRINSIC
coiled coil region	241	297	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000169898

SMART Domains

Protein: ENSMUSP00000132294
Gene: ENSMUSG00000061882

Domain	Start	End	E-Value	Type
coiled coil region	31	55	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171881

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygotes for an ENU-induced mutation or a deletion knockout exhibit male reproductive abnormalities including infertility, low sperm count, abnormal sperm head and tail morphology, very low sperm motility, and low seminal vesicle weight. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830018L16Rik	T	A	1: 11,615,375 (GRCm39)		probably null	Het
Akr1c14	C	T	13: 4,129,130 (GRCm39)	R45*	probably null	Het
Ccdc66	T	A	14: 27,212,628 (GRCm39)	N565I	probably damaging	Het
Cerkl	G	T	2: 79,172,719 (GRCm39)	A318E	probably damaging	Het
Clec4n	A	T	6: 123,209,105 (GRCm39)	T57S	probably benign	Het
Cluh	A	G	11: 74,556,578 (GRCm39)	E921G	probably benign	Het
Cnbd1	C	T	4: 18,860,565 (GRCm39)	E394K	possibly damaging	Het
Dmgdh	G	T	13: 93,843,209 (GRCm39)	M348I	probably benign	Het
Dnajc13	G	A	9: 104,051,625 (GRCm39)	S1744L	possibly damaging	Het
Dspp	A	T	5: 104,325,427 (GRCm39)	S597C	unknown	Het
Dync1h1	A	T	12: 110,595,168 (GRCm39)	N1360I	probably benign	Het
Eepd1	A	G	9: 25,514,708 (GRCm39)	H505R	possibly damaging	Het
Entr1	A	T	2: 26,277,688 (GRCm39)		probably benign	Het
Gcnt7	T	C	2: 172,296,303 (GRCm39)	T174A	possibly damaging	Het
Gnb1	T	C	4: 155,625,004 (GRCm39)		probably benign	Het
Gpam	A	G	19: 55,059,448 (GRCm39)	S800P	probably benign	Het
Gsr	T	C	8: 34,185,024 (GRCm39)		probably benign	Het
Herc2	A	G	7: 55,804,878 (GRCm39)	K2302R	probably benign	Het
Hipk1	C	A	3: 103,684,575 (GRCm39)	A347S	possibly damaging	Het
Iqgap2	T	C	13: 95,867,942 (GRCm39)	N222S	probably damaging	Het
Marco	T	A	1: 120,422,524 (GRCm39)	M46L	probably benign	Het
Morc2b	A	T	17: 33,357,337 (GRCm39)	V145D	probably damaging	Het
Mprip	C	A	11: 59,586,989 (GRCm39)	P54Q	probably damaging	Het
Ndufv2	A	T	17: 66,390,444 (GRCm39)	C175*	probably null	Het
Or13c25	A	G	4: 52,910,835 (GRCm39)	*320Q	probably null	Het
Or4p20	T	C	2: 88,253,571 (GRCm39)	D266G	probably damaging	Het
Orc3	A	C	4: 34,595,210 (GRCm39)	I195S	probably damaging	Het
Otos	C	A	1: 92,572,135 (GRCm39)	E64*	probably null	Het
Plxna2	T	C	1: 194,487,253 (GRCm39)	S1603P	probably damaging	Het
Rlf	A	T	4: 121,005,527 (GRCm39)	I1151N	probably benign	Het
Scaper	A	G	9: 55,782,107 (GRCm39)	V283A	probably benign	Het
Slc25a43	A	G	X: 36,039,252 (GRCm39)	T270A	probably benign	Het
Slc35a5	A	G	16: 44,964,144 (GRCm39)	V78A	probably damaging	Het
Smurf1	A	T	5: 144,818,609 (GRCm39)	D636E	probably benign	Het
Tchhl1	A	T	3: 93,377,582 (GRCm39)	E95D	probably damaging	Het
Tcp10a	A	G	17: 7,593,891 (GRCm39)	E72G	possibly damaging	Het
Tmem232	A	G	17: 65,757,369 (GRCm39)	S275P	probably damaging	Het
Ugt1a5	T	C	1: 88,094,540 (GRCm39)	F256S	probably damaging	Het
Ulbp3	A	G	10: 3,075,699 (GRCm39)		noncoding transcript	Het
Vmn2r5	A	G	3: 64,398,747 (GRCm39)	V744A	probably benign	Het
Vmn2r53	A	T	7: 12,332,349 (GRCm39)	S433R	probably benign	Het
Vmn2r9	A	T	5: 108,995,997 (GRCm39)	I217N	probably damaging	Het
Wdr83	G	T	8: 85,807,216 (GRCm39)	A10E	probably benign	Het

Other mutations in Ccdc62

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01782:Ccdc62	APN	5	124,092,639 (GRCm39)	missense	possibly damaging	0.83
IGL02491:Ccdc62	APN	5	124,099,378 (GRCm39)	missense	probably damaging	1.00
IGL02634:Ccdc62	APN	5	124,092,320 (GRCm39)	missense	probably benign	0.03
IGL02938:Ccdc62	APN	5	124,072,247 (GRCm39)	missense	probably benign	0.30
IGL03274:Ccdc62	APN	5	124,092,743 (GRCm39)	missense	probably benign	0.00
Condensed	UTSW	5	124,072,156 (GRCm39)	missense	probably benign	0.00
R0356:Ccdc62	UTSW	5	124,092,811 (GRCm39)	missense	probably benign	0.05
R3915:Ccdc62	UTSW	5	124,092,778 (GRCm39)	missense	probably damaging	1.00
R4708:Ccdc62	UTSW	5	124,068,925 (GRCm39)	critical splice donor site	probably null
R5731:Ccdc62	UTSW	5	124,089,352 (GRCm39)	critical splice donor site	probably null
R6354:Ccdc62	UTSW	5	124,082,267 (GRCm39)	missense	probably damaging	0.96
R6681:Ccdc62	UTSW	5	124,072,156 (GRCm39)	missense	probably benign	0.00
R7340:Ccdc62	UTSW	5	124,089,283 (GRCm39)	missense	probably damaging	1.00
R8325:Ccdc62	UTSW	5	124,092,448 (GRCm39)	missense	probably benign	0.28
R8418:Ccdc62	UTSW	5	124,084,455 (GRCm39)	nonsense	probably null
R8845:Ccdc62	UTSW	5	124,092,470 (GRCm39)	missense	probably benign
R9217:Ccdc62	UTSW	5	124,092,470 (GRCm39)	missense	probably benign
R9294:Ccdc62	UTSW	5	124,092,772 (GRCm39)	missense	possibly damaging	0.79
R9518:Ccdc62	UTSW	5	124,089,288 (GRCm39)	missense	possibly damaging	0.95
R9536:Ccdc62	UTSW	5	124,092,749 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02