Mutagenetix > Incidental Mutation

Incidental Mutation 'R1105:Catsperz'

98459

Institutional Source

Beutler Lab

Gene Symbol

Catsperz

Ensembl Gene

ENSMUSG00000050623

Gene Name

cation channel sperm associated auxiliary subunit zeta

Synonyms

A430107B04Rik, 1700019N12Rik, Tex40

MMRRC Submission

039178-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1105 (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 6902303 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 64 (Y64N)

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 benign
Transcript: ENSMUST00000057716
AA Change: Y64N

PolyPhen 2 Score 0.361 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000056681
Gene: ENSMUSG00000050623
AA Change: Y64N

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: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.4%

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: 14 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aif1	G	A	17: 35,391,127 (GRCm39)	P44L	probably benign	Het
Bcl6	G	T	16: 23,784,905 (GRCm39)	D698E	probably benign	Het
Clstn2	T	C	9: 97,465,552 (GRCm39)		probably null	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Duox1	A	T	2: 122,168,183 (GRCm39)	T1103S	probably damaging	Het
Gcfc2	T	C	6: 81,916,434 (GRCm39)	S292P	probably damaging	Het
Hs3st1	GGTACAGGCTGCGGTTGAGAGCCTTGTA	GGTA	5: 39,772,041 (GRCm39)		probably benign	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Klk1b16	C	T	7: 43,788,937 (GRCm39)	R57C	probably damaging	Het
Mki67	T	C	7: 135,302,779 (GRCm39)	S752G	probably benign	Het
Ndrg1	T	A	15: 66,812,080 (GRCm39)	N204Y	probably damaging	Het
Ripk1	T	C	13: 34,212,150 (GRCm39)	Y487H	probably benign	Het
Rpl18a	T	C	8: 71,348,658 (GRCm39)	N77S	probably damaging	Het
Zik1	G	A	7: 10,224,312 (GRCm39)	R262C	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
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
R2376:Catsperz	UTSW	19	6,902,266 (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'- TCGGCGAGGCTATACTGACCTAAG -3'
(R):5'- AGCGTCAAAGTAAGAAGTCTGCCC -3'

Sequencing Primer
(F):5'- GACCTAAGGAGGTCTCAGATTC -3'
(R):5'- TAAGAAGTCTGCCCGAGTTCC -3'

Posted On

2014-01-05