Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02178:Catsper4'

283186

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Catsper4

Ensembl Gene

ENSMUSG00000048003

Gene Name

cation channel, sperm associated 4

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02178

Quality Score

Status

Chromosome

Chromosomal Location

133939281-133954694 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 133954637 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 4 (K4N)

Ref Sequence

ENSEMBL: ENSMUSP00000101504 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030645] [ENSMUST00000055892] [ENSMUST00000105878] [ENSMUST00000169381]

AlphaFold

Q8BVN3

Predicted Effect

probably benign
Transcript: ENSMUST00000030645

SMART Domains

Protein: ENSMUSP00000030645
Gene: ENSMUSG00000028841

Domain	Start	End	E-Value	Type
SAM	4	70	1.44e-9	SMART
Pfam:CRIC_ras_sig	78	162	4.2e-26	PFAM
PDZ	206	276	1.48e-3	SMART
low complexity region	285	303	N/A	INTRINSIC
low complexity region	333	347	N/A	INTRINSIC
PH	388	488	4.38e-19	SMART
coiled coil region	596	624	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000055892
AA Change: K4N

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000051694
Gene: ENSMUSG00000048003
AA Change: K4N

Domain	Start	End	E-Value	Type
Pfam:Ion_trans	67	294	6.9e-34	PFAM
Pfam:PKD_channel	149	289	8.1e-8	PFAM
low complexity region	304	315	N/A	INTRINSIC
coiled coil region	353	383	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000105878
AA Change: K4N

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000101504
Gene: ENSMUSG00000048003
AA Change: K4N

Domain	Start	End	E-Value	Type
transmembrane domain	64	86	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130984

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144504

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145998

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146283

Predicted Effect

probably benign
Transcript: ENSMUST00000169381
AA Change: K4N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000131094
Gene: ENSMUSG00000048003
AA Change: K4N

Domain	Start	End	E-Value	Type
Pfam:Ion_trans	56	209	2.4e-11	PFAM
low complexity region	231	242	N/A	INTRINSIC
coiled coil region	280	310	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for this mutation are viable and exhibit no gross physical or behavioral abnormality. Although wild-type and homozygous mutant females bred to wild-type males exhibit similar fertility, male homozygotes are infertile. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	A	14: 32,384,418 (GRCm39)	T516S	possibly damaging	Het
6820408C15Rik	T	C	2: 152,269,921 (GRCm39)		probably benign	Het
Ak5	T	C	3: 152,232,422 (GRCm39)	D331G	probably benign	Het
Ar	A	G	X: 97,349,044 (GRCm39)	D675G	probably damaging	Het
Arhgap23	A	G	11: 97,343,179 (GRCm39)	D276G	probably benign	Het
Arhgef3	C	T	14: 26,987,486 (GRCm39)	R40*	probably null	Het
Atp1b4	G	T	X: 37,421,695 (GRCm39)	R293L	possibly damaging	Het
Borcs8	T	C	8: 70,617,897 (GRCm39)	L85P	probably damaging	Het
Carmil1	T	G	13: 24,278,386 (GRCm39)	K194N	probably damaging	Het
Ccdc30	T	C	4: 119,206,921 (GRCm39)		probably benign	Het
Cd101	A	G	3: 100,901,082 (GRCm39)	S997P	probably damaging	Het
Cdkl5	G	A	X: 159,599,889 (GRCm39)	T792I	probably benign	Het
Cep135	A	G	5: 76,743,321 (GRCm39)	Y185C	probably damaging	Het
Clcn5	A	G	X: 7,052,563 (GRCm39)	Y59H	possibly damaging	Het
Col6a1	A	T	10: 76,546,909 (GRCm39)	I771N	unknown	Het
Crispld1	C	T	1: 17,832,327 (GRCm39)		probably benign	Het
Fbxl13	A	G	5: 21,825,718 (GRCm39)	I128T	possibly damaging	Het
Gga1	T	A	15: 78,776,247 (GRCm39)	M430K	probably benign	Het
Has2	A	G	15: 56,545,456 (GRCm39)	Y49H	probably damaging	Het
Ivd	A	G	2: 118,701,915 (GRCm39)	I116V	probably benign	Het
Krt75	T	C	15: 101,481,226 (GRCm39)	N183D	probably benign	Het
Map3k9	A	T	12: 81,790,611 (GRCm39)	I314N	probably damaging	Het
Map6d1	T	G	16: 20,055,448 (GRCm39)	E129D	probably damaging	Het
Mettl22	T	C	16: 8,296,146 (GRCm39)	V145A	probably benign	Het
Muc5ac	T	A	7: 141,359,184 (GRCm39)		probably benign	Het
Mycbp2	A	G	14: 103,461,802 (GRCm39)	F1416L	probably benign	Het
Nlrc4	T	C	17: 74,753,838 (GRCm39)	I182V	probably damaging	Het
Or5b21	T	A	19: 12,839,907 (GRCm39)	I256N	possibly damaging	Het
Or7a35	T	C	10: 78,853,554 (GRCm39)	Y133H	possibly damaging	Het
Phc3	T	C	3: 30,984,012 (GRCm39)	T668A	possibly damaging	Het
Pheta2	T	A	15: 82,227,527 (GRCm39)	D15E	possibly damaging	Het
Ppp2r2a	T	C	14: 67,260,546 (GRCm39)	Y244C	probably damaging	Het
Prkcq	A	C	2: 11,281,851 (GRCm39)	Y460S	possibly damaging	Het
Prmt8	T	A	6: 127,674,770 (GRCm39)	E286V	probably benign	Het
Ptprb	A	T	10: 116,158,437 (GRCm39)	M503L	probably benign	Het
Ptprq	A	T	10: 107,522,180 (GRCm39)	D590E	probably benign	Het
Ror2	C	T	13: 53,264,764 (GRCm39)	S764N	probably damaging	Het
Rps6kc1	A	T	1: 190,604,033 (GRCm39)	S196R	possibly damaging	Het
Ryr3	A	G	2: 112,656,144 (GRCm39)	Y1951H	probably benign	Het
Sbno1	A	T	5: 124,538,258 (GRCm39)		probably null	Het
Sde2	T	G	1: 180,678,796 (GRCm39)	L20R	possibly damaging	Het
Slco1a5	A	T	6: 142,208,414 (GRCm39)	C81*	probably null	Het
Snx2	A	G	18: 53,332,857 (GRCm39)	E177G	possibly damaging	Het
Spg11	A	T	2: 121,927,783 (GRCm39)	V667D	probably damaging	Het
Tas2r115	T	C	6: 132,714,271 (GRCm39)	T227A	probably benign	Het
Tmed9	A	G	13: 55,741,108 (GRCm39)	H41R	possibly damaging	Het
Vmn1r35	T	G	6: 66,656,086 (GRCm39)	S28R	probably damaging	Het
Vmn2r110	A	C	17: 20,804,706 (GRCm39)		probably null	Het
Vstm2l	T	C	2: 157,777,337 (GRCm39)	Y72H	probably damaging	Het
Wdr38	A	T	2: 38,888,424 (GRCm39)	N7I	probably damaging	Het
Zbtb4	A	T	11: 69,667,255 (GRCm39)	R187*	probably null	Het
Zfp598	A	G	17: 24,896,517 (GRCm39)	D198G	probably damaging	Het
Zp2	G	T	7: 119,732,973 (GRCm39)	A629E	possibly damaging	Het

Other mutations in Catsper4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03375:Catsper4	APN	4	133,945,519 (GRCm39)	missense	probably damaging	1.00
R1757:Catsper4	UTSW	4	133,945,212 (GRCm39)	missense	probably benign	0.12
R2087:Catsper4	UTSW	4	133,953,916 (GRCm39)	missense	probably damaging	1.00
R2113:Catsper4	UTSW	4	133,945,552 (GRCm39)	missense	probably damaging	1.00
R2127:Catsper4	UTSW	4	133,941,117 (GRCm39)	missense	probably benign	0.00
R4679:Catsper4	UTSW	4	133,953,916 (GRCm39)	missense	probably damaging	1.00
R5116:Catsper4	UTSW	4	133,953,991 (GRCm39)	missense	probably damaging	1.00
R6139:Catsper4	UTSW	4	133,945,177 (GRCm39)	missense	probably damaging	1.00
R6148:Catsper4	UTSW	4	133,945,240 (GRCm39)	missense	probably damaging	1.00
R6236:Catsper4	UTSW	4	133,948,887 (GRCm39)	missense	probably benign	0.42
R6885:Catsper4	UTSW	4	133,942,460 (GRCm39)	missense	probably benign	0.00
R6949:Catsper4	UTSW	4	133,953,058 (GRCm39)	missense	probably benign	0.00
R6960:Catsper4	UTSW	4	133,954,648 (GRCm39)	start codon destroyed	probably benign	0.14
R7235:Catsper4	UTSW	4	133,939,892 (GRCm39)	splice site	probably null
R7261:Catsper4	UTSW	4	133,954,423 (GRCm39)	frame shift	probably null
R7263:Catsper4	UTSW	4	133,954,423 (GRCm39)	frame shift	probably null
R7264:Catsper4	UTSW	4	133,954,423 (GRCm39)	frame shift	probably null
R7483:Catsper4	UTSW	4	133,945,552 (GRCm39)	missense	probably damaging	1.00
R8868:Catsper4	UTSW	4	133,954,417 (GRCm39)	critical splice donor site	probably null
R9235:Catsper4	UTSW	4	133,954,606 (GRCm39)	missense	probably benign
X0025:Catsper4	UTSW	4	133,942,556 (GRCm39)	missense	possibly damaging	0.64

Posted On

2015-04-16