Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01676:Catsperz'

103640

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 #

IGL01676

Quality Score

Status

Chromosome

Chromosomal Location

6899794-6902748 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 6902421 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 24 (Y24*)

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 null
Transcript: ENSMUST00000057716
AA Change: Y24*

SMART Domains

Protein: ENSMUSP00000056681
Gene: ENSMUSG00000050623
AA Change: Y24*

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm4	A	T	7: 119,307,866 (GRCm39)	R334S	probably benign	Het
Adamts3	A	T	5: 89,825,613 (GRCm39)	F1075L	probably benign	Het
Adamts3	A	G	5: 90,029,402 (GRCm39)	V30A	possibly damaging	Het
Bpifb5	A	G	2: 154,070,969 (GRCm39)	N223D	possibly damaging	Het
Cacna1e	T	C	1: 154,274,222 (GRCm39)	R2228G	probably damaging	Het
Cacna1e	T	C	1: 154,288,196 (GRCm39)	E1894G	probably damaging	Het
Calr4	A	G	4: 109,101,447 (GRCm39)	K110E	probably damaging	Het
Clec9a	T	G	6: 129,398,118 (GRCm39)	S219A	probably benign	Het
Csrnp3	T	A	2: 65,779,336 (GRCm39)	I16N	probably damaging	Het
Ddx19a	A	G	8: 111,707,621 (GRCm39)		probably null	Het
Diaph1	G	A	18: 37,989,241 (GRCm39)	Q905*	probably null	Het
Dnah10	T	C	5: 124,880,392 (GRCm39)	M2743T	possibly damaging	Het
Ears2	A	T	7: 121,643,781 (GRCm39)	D392E	probably benign	Het
Fsip1	T	C	2: 118,070,865 (GRCm39)		probably benign	Het
Ighv1-74	T	C	12: 115,766,323 (GRCm39)	Y98C	possibly damaging	Het
Igsf10	T	C	3: 59,233,432 (GRCm39)	K1767R	probably benign	Het
Igsf10	C	T	3: 59,236,756 (GRCm39)	A1142T	probably benign	Het
Lpar6	A	G	14: 73,477,010 (GRCm39)	N324D	probably benign	Het
Lrit1	T	A	14: 36,779,394 (GRCm39)	L109Q	probably damaging	Het
Nlrp4f	A	T	13: 65,342,933 (GRCm39)	D237E	possibly damaging	Het
Oas1h	G	T	5: 121,009,897 (GRCm39)	G324V	probably damaging	Het
Pak1	T	G	7: 97,532,738 (GRCm39)	D179E	probably benign	Het
Prop1	T	A	11: 50,842,956 (GRCm39)	Q77L	probably damaging	Het
Scn10a	A	T	9: 119,501,231 (GRCm39)	Y184*	probably null	Het
Sdk1	T	C	5: 142,113,591 (GRCm39)	F1546S	probably damaging	Het
Trim67	A	T	8: 125,541,899 (GRCm39)	I366F	possibly damaging	Het
Vmn2r94	T	G	17: 18,477,272 (GRCm39)	M380L	probably benign	Het
Vmn2r-ps158	A	G	7: 42,674,133 (GRCm39)	N397S	probably damaging	Het
Zfand3	T	G	17: 30,354,337 (GRCm39)	S51R	possibly damaging	Het
Zfp36l3	T	C	X: 52,777,624 (GRCm39)	S197G	probably benign	Het

Other mutations in Catsperz

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

2014-01-21