Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02027:Catsperz'

184210

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL02027

Quality Score

Status

Chromosome

Chromosomal Location

6899794-6902748 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 6902664 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 5 (V5A)

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: V5A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000056681
Gene: ENSMUSG00000050623
AA Change: V5A

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

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adipor1	A	G	1: 134,358,923 (GRCm39)	T312A	probably benign	Het
Begain	T	G	12: 109,000,235 (GRCm39)	K384Q	possibly damaging	Het
C2cd6	T	C	1: 59,099,763 (GRCm39)	I393V	probably benign	Het
Cbx1	T	A	11: 96,692,315 (GRCm39)	F67L	probably damaging	Het
Ccn2	A	G	10: 24,472,307 (GRCm39)	S117G	probably damaging	Het
Ccn3	T	C	15: 54,611,330 (GRCm39)	V155A	probably damaging	Het
Cerkl	T	C	2: 79,171,630 (GRCm39)		probably benign	Het
Cubn	G	T	2: 13,292,405 (GRCm39)	D3259E	probably damaging	Het
Cyp2u1	A	G	3: 131,091,600 (GRCm39)	Y307H	probably damaging	Het
Dcaf6	A	C	1: 165,251,910 (GRCm39)	D71E	probably damaging	Het
Dclk3	A	T	9: 111,296,911 (GRCm39)	K152*	probably null	Het
Fcgbp	G	A	7: 27,774,629 (GRCm39)	D68N	probably damaging	Het
Gm6576	A	G	15: 27,025,952 (GRCm39)		noncoding transcript	Het
Has2	T	C	15: 56,531,567 (GRCm39)	T383A	probably damaging	Het
Htr1f	T	A	16: 64,746,684 (GRCm39)	K203*	probably null	Het
Il36g	A	T	2: 24,082,797 (GRCm39)	I191L	probably benign	Het
Iqgap3	T	C	3: 87,994,649 (GRCm39)	I116T	possibly damaging	Het
Itga1	C	T	13: 115,126,591 (GRCm39)		probably null	Het
Kif5b	T	C	18: 6,209,089 (GRCm39)	D891G	possibly damaging	Het
Krt74	T	C	15: 101,665,229 (GRCm39)		noncoding transcript	Het
Lama3	A	G	18: 12,649,570 (GRCm39)	K1776E	probably damaging	Het
Lats1	T	C	10: 7,588,712 (GRCm39)	S1110P	probably benign	Het
Lipo3	T	A	19: 33,557,919 (GRCm39)	K158*	probably null	Het
Lrrc9	T	A	12: 72,517,108 (GRCm39)		probably benign	Het
Met	A	G	6: 17,563,726 (GRCm39)		probably benign	Het
Mmp13	A	G	9: 7,272,955 (GRCm39)	Y105C	probably damaging	Het
Mtus1	T	C	8: 41,446,638 (GRCm39)	E1151G	probably damaging	Het
Nptx1	T	C	11: 119,435,422 (GRCm39)	D298G	possibly damaging	Het
Odad4	C	T	11: 100,460,728 (GRCm39)	T495M	probably damaging	Het
Pdlim1	T	C	19: 40,231,910 (GRCm39)	N156S	probably benign	Het
Pdzk1	A	G	3: 96,761,989 (GRCm39)		probably benign	Het
Pex5	A	G	6: 124,375,847 (GRCm39)	S448P	probably benign	Het
Polr3e	G	T	7: 120,530,186 (GRCm39)	R124L	probably damaging	Het
Ppp2r2c	C	T	5: 37,109,816 (GRCm39)	R392C	probably damaging	Het
Prpf4b	T	C	13: 35,073,554 (GRCm39)	I543T	probably benign	Het
Prr27	A	G	5: 87,991,302 (GRCm39)	S305G	possibly damaging	Het
Repin1	A	G	6: 48,573,407 (GRCm39)	H56R	probably damaging	Het
Ryr2	A	T	13: 11,611,998 (GRCm39)	L408H	probably damaging	Het
Sbf2	T	A	7: 110,060,348 (GRCm39)	Q205H	probably damaging	Het
Sgo2b	G	A	8: 64,379,863 (GRCm39)	P990S	probably benign	Het
Slc33a1	G	T	3: 63,855,562 (GRCm39)	P361Q	probably damaging	Het
Tmem98	T	C	11: 80,706,483 (GRCm39)		probably benign	Het
Vmn1r16	T	C	6: 57,300,044 (GRCm39)	T193A	possibly damaging	Het
Vmn1r5	T	A	6: 56,962,640 (GRCm39)	I105K	probably damaging	Het
Zfp473	A	T	7: 44,387,462 (GRCm39)		probably benign	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
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
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

Posted On

2014-05-07