Mutagenetix > Incidental Mutation

Incidental Mutation 'R9536:Ccdc62'

719686

Institutional Source

Beutler Lab

Gene Symbol

Ccdc62

Ensembl Gene

ENSMUSG00000061882

Gene Name

coiled-coil domain containing 62

Synonyms

repro29, LOC208908, G1-485-3

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9536 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

124068742-124107958 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 124092749 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 578 (F578S)

Ref Sequence

ENSEMBL: ENSMUSP00000091878 (fasta)

Gene Model

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

AlphaFold

E9PVD1

Predicted Effect

probably damaging
Transcript: ENSMUST00000094320
AA Change: F578S

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

SMART Domains

Protein: ENSMUSP00000091878
Gene: ENSMUSG00000061882
AA Change: F578S

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000165148
AA Change: F578S

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

SMART Domains

Protein: ENSMUSP00000127483
Gene: ENSMUSG00000061882
AA Change: F578S

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013G24Rik	A	T	4: 137,182,623 (GRCm39)	L259F	probably damaging	Het
Adamts6	A	C	13: 104,489,313 (GRCm39)	I389L	probably benign	Het
Adcy7	A	T	8: 89,053,026 (GRCm39)	E974V	possibly damaging	Het
Agbl3	G	T	6: 34,823,861 (GRCm39)	R847M	probably benign	Het
Ank2	T	G	3: 126,736,031 (GRCm39)	Q3284H	unknown	Het
Arih2	C	G	9: 108,488,938 (GRCm39)	R260P	probably damaging	Het
Bod1l	C	A	5: 41,974,305 (GRCm39)	E2336D	probably benign	Het
Ccdc18	T	C	5: 108,286,792 (GRCm39)	S109P	probably benign	Het
Chid1	A	G	7: 141,093,755 (GRCm39)	V287A	probably benign	Het
Cyp26b1	T	G	6: 84,553,999 (GRCm39)	D206A	probably benign	Het
Dennd6a	A	T	14: 26,329,758 (GRCm39)	K334*	probably null	Het
Drd3	T	C	16: 43,637,368 (GRCm39)	V189A	probably damaging	Het
Fmn1	T	C	2: 113,309,262 (GRCm39)	I728T	unknown	Het
Frem3	G	A	8: 81,342,048 (GRCm39)	G1447D	probably benign	Het
Gck	T	C	11: 5,852,307 (GRCm39)	D344G	possibly damaging	Het
Gimap9	T	A	6: 48,654,416 (GRCm39)	M1K	probably null	Het
Glb1l3	T	C	9: 26,770,929 (GRCm39)	T46A	probably benign	Het
Gm13941	T	C	2: 110,918,861 (GRCm39)	T198A	unknown	Het
Gphn	T	G	12: 78,609,636 (GRCm39)	S327A	possibly damaging	Het
Hmcn2	T	C	2: 31,335,130 (GRCm39)	S4356P	possibly damaging	Het
Iqgap1	A	T	7: 80,458,840 (GRCm39)	M26K		Het
Iqsec1	A	G	6: 90,666,659 (GRCm39)	Y489H	probably damaging	Het
Lars1	T	A	18: 42,376,046 (GRCm39)	R255*	probably null	Het
Lrp5	G	A	19: 3,672,672 (GRCm39)	H546Y	probably damaging	Het
Or2c1	T	A	16: 3,657,438 (GRCm39)	N200K	possibly damaging	Het
Or52a5b	A	T	7: 103,416,779 (GRCm39)	V275E	probably damaging	Het
Or5p61	T	C	7: 107,759,075 (GRCm39)	I2V	probably benign	Het
Or6c33	G	A	10: 129,853,345 (GRCm39)	M38I	probably benign	Het
Osbpl6	T	A	2: 76,416,554 (GRCm39)	C691S	probably benign	Het
Pcbp3	G	A	10: 76,599,225 (GRCm39)	L304F	possibly damaging	Het
Pramel34	G	C	5: 93,784,289 (GRCm39)	L392V	probably damaging	Het
Rpl5	T	A	5: 108,051,721 (GRCm39)	S172T	probably benign	Het
Rps2	C	T	17: 24,940,851 (GRCm39)	H297Y	unknown	Het
Scp2	A	T	4: 107,928,532 (GRCm39)	V386E	possibly damaging	Het
Sh2d5	T	A	4: 137,986,420 (GRCm39)	V381E	probably benign	Het
Styxl1	T	C	5: 135,776,634 (GRCm39)	E318G	probably benign	Het
Tat	T	A	8: 110,722,711 (GRCm39)	C258S	probably benign	Het
Thbs2	T	C	17: 14,910,147 (GRCm39)	N151D	probably damaging	Het
Thbs3	A	T	3: 89,124,044 (GRCm39)	I46F	possibly damaging	Het
Trpm6	A	T	19: 18,764,123 (GRCm39)	D243V	probably damaging	Het
Ttn	T	A	2: 76,739,017 (GRCm39)	N3887Y	unknown	Het
Ubap2	A	G	4: 41,195,661 (GRCm39)	S1020P	probably benign	Het
Ubtfl1	A	T	9: 18,320,537 (GRCm39)	M22L	probably benign	Het
V1rd19	A	T	7: 23,703,253 (GRCm39)	I240F	probably damaging	Het
Vwa5b2	C	T	16: 20,414,449 (GRCm39)	P275L	probably damaging	Het
Zfp386	G	A	12: 116,023,686 (GRCm39)	C468Y	probably damaging	Het
Zfp975	A	C	7: 42,312,345 (GRCm39)	H89Q	probably benign	Het
Zfyve26	T	A	12: 79,298,046 (GRCm39)	N1881I	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
IGL03293:Ccdc62	APN	5	124,089,288 (GRCm39)	missense	possibly damaging	0.95
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

Predicted Primers

PCR Primer
(F):5'- CAGTGGCATGACATCAACGTC -3'
(R):5'- AGCATGGATGTCTACTGCAG -3'

Sequencing Primer
(F):5'- TGACATCAACGTCTACCTGGG -3'
(R):5'- GATGTCTACTGCAGCCCCCTG -3'

Posted On

2022-07-18