Mutagenetix > Incidental Mutation

Incidental Mutation 'R2376:Catsperz'

248295

Institutional Source

Beutler Lab

Gene Symbol

Catsperz

Ensembl Gene

ENSMUSG00000050623

Gene Name

cation channel sperm associated auxiliary subunit zeta

Synonyms

A430107B04Rik, 1700019N12Rik, Tex40

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2376 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

6899794-6902748 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 6902266 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 76 (L76H)

Ref Sequence

ENSEMBL: ENSMUSP00000056681 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025906] [ENSMUST00000025908] [ENSMUST00000057716] [ENSMUST00000172975] [ENSMUST00000173635]

AlphaFold

Q9CQP8

Predicted Effect

probably benign
Transcript: ENSMUST00000025906

SMART Domains

Protein: ENSMUSP00000025906
Gene: ENSMUSG00000024955

Domain	Start	End	E-Value	Type
internal_repeat_1	5	21	6.74e-5	PROSPERO
low complexity region	52	67	N/A	INTRINSIC
ZnF_C4	76	147	2.16e-40	SMART
low complexity region	169	187	N/A	INTRINSIC
internal_repeat_1	202	218	6.74e-5	PROSPERO
HOLI	229	391	9.21e-35	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000025908

SMART Domains

Protein: ENSMUSP00000025908
Gene: ENSMUSG00000024957

Domain	Start	End	E-Value	Type
Pfam:Ion_trans	2	147	8.1e-9	PFAM
Pfam:Ion_trans_2	64	145	1.7e-21	PFAM
Pfam:Ion_trans_2	174	260	5.3e-22	PFAM
low complexity region	303	319	N/A	INTRINSIC
low complexity region	367	390	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000057716
AA Change: L76H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000056681
Gene: ENSMUSG00000050623
AA Change: L76H

Domain	Start	End	E-Value	Type
low complexity region	104	118	N/A	INTRINSIC
low complexity region	137	146	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145192

Predicted Effect

probably benign
Transcript: ENSMUST00000172975

SMART Domains

Protein: ENSMUSP00000133916
Gene: ENSMUSG00000024955

Domain	Start	End	E-Value	Type
low complexity region	52	67	N/A	INTRINSIC
ZnF_C4	76	103	4.05e-3	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173308

Predicted Effect

probably benign
Transcript: ENSMUST00000173635

SMART Domains

Protein: ENSMUSP00000134587
Gene: ENSMUSG00000024955

Domain	Start	End	E-Value	Type
PDB:1LO1\|A	1	21	6e-7	PDB
low complexity region	26	44	N/A	INTRINSIC
Pfam:Hormone_recep	65	158	4.7e-18	PFAM

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.8%
20x: 93.4%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous knockout males are sub-fertile: reduced litters and high rate of infertility. Flagellar dysfunction compromises sperm mobility. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts9	A	T	6: 92,889,812 (GRCm39)	V254E	probably benign	Het
Anapc16	T	C	10: 59,824,579 (GRCm39)	E119G	possibly damaging	Het
Ankrd13d	T	A	19: 4,322,623 (GRCm39)	I350F	possibly damaging	Het
Asb6	A	G	2: 30,714,414 (GRCm39)	M232T	probably benign	Het
Cacna1g	A	G	11: 94,356,734 (GRCm39)	V134A	probably damaging	Het
Eno4	T	C	19: 58,941,658 (GRCm39)	V17A	probably benign	Het
Hrob	A	G	11: 102,141,542 (GRCm39)	D14G	probably benign	Het
Ltn1	A	G	16: 87,217,695 (GRCm39)		probably null	Het
Myh9	G	T	15: 77,667,617 (GRCm39)	D605E	probably benign	Het
Obscn	C	T	11: 58,959,950 (GRCm39)	A3515T	probably damaging	Het
Pck1	A	G	2: 172,998,909 (GRCm39)	K389R	probably benign	Het
Pde10a	A	G	17: 9,149,369 (GRCm39)	Y407C	probably damaging	Het
Plce1	G	A	19: 38,766,430 (GRCm39)	V2138I	probably benign	Het
Pou4f2	T	G	8: 79,162,814 (GRCm39)	S74R	unknown	Het
Ptpn21	A	T	12: 98,654,573 (GRCm39)	M798K	possibly damaging	Het
Rhag	G	T	17: 41,122,254 (GRCm39)		probably null	Het
Utp6	C	G	11: 79,846,439 (GRCm39)	E181Q	probably damaging	Het
Vcan	G	T	13: 89,851,529 (GRCm39)	Q1144K	possibly damaging	Het
Vmn1r88	T	A	7: 12,911,785 (GRCm39)	V47D	probably damaging	Het

Other mutations in Catsperz

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01676:Catsperz	APN	19	6,902,421 (GRCm39)	nonsense	probably null
IGL02027:Catsperz	APN	19	6,902,664 (GRCm39)	missense	probably benign	0.00
R1105:Catsperz	UTSW	19	6,902,303 (GRCm39)	missense	probably benign	0.36
R1170:Catsperz	UTSW	19	6,902,317 (GRCm39)	missense	probably benign	0.01
R1301:Catsperz	UTSW	19	6,902,450 (GRCm39)	missense	probably damaging	1.00
R4661:Catsperz	UTSW	19	6,902,171 (GRCm39)	missense	probably benign	0.03
R5152:Catsperz	UTSW	19	6,900,705 (GRCm39)	missense	probably benign	0.19
R7586:Catsperz	UTSW	19	6,899,929 (GRCm39)	nonsense	probably null
R8168:Catsperz	UTSW	19	6,900,020 (GRCm39)	missense	possibly damaging	0.53
R8411:Catsperz	UTSW	19	6,899,930 (GRCm39)	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- TGAGCCCTCTCCTAAGAAATCC -3'
(R):5'- ATCCAGCCTGTACGGAGATG -3'

Sequencing Primer
(F):5'- TACCCCCATTTTGCAGGAAGG -3'
(R):5'- AGATGTTCGTGACCTATGGAGCAC -3'

Posted On

2014-11-11