Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01693:Catsperg1'

104194

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Catsperg1

Ensembl Gene

ENSMUSG00000049676

Gene Name

cation channel sperm associated auxiliary subunit gamma 1

Synonyms

A230107C01Rik, Catsperg

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.078) question?

Stock #

IGL01693

Quality Score

Status

Chromosome

Chromosomal Location

28880746-28913460 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 28884523 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000146882 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047846] [ENSMUST00000059642] [ENSMUST00000163782] [ENSMUST00000164653] [ENSMUST00000169143] [ENSMUST00000209034] [ENSMUST00000186182] [ENSMUST00000182328]

AlphaFold

E9Q355

Predicted Effect

probably benign
Transcript: ENSMUST00000047846

SMART Domains

Protein: ENSMUSP00000045233
Gene: ENSMUSG00000049676

Domain	Start	End	E-Value	Type
Pfam:CATSPERG	1	920	N/A	PFAM
transmembrane domain	1012	1034	N/A	INTRINSIC
low complexity region	1058	1073	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000059642

SMART Domains

Protein: ENSMUSP00000051657
Gene: ENSMUSG00000030591

Domain	Start	End	E-Value	Type
low complexity region	11	23	N/A	INTRINSIC
low complexity region	60	82	N/A	INTRINSIC
low complexity region	117	129	N/A	INTRINSIC
Pfam:CSN8_PSD8_EIF3K	189	330	1.2e-40	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000085819

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000163445

Predicted Effect

probably benign
Transcript: ENSMUST00000163782

SMART Domains

Protein: ENSMUSP00000127409
Gene: ENSMUSG00000049676

Domain	Start	End	E-Value	Type
Pfam:CATSPERG	1	93	1.7e-52	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000164653

SMART Domains

Protein: ENSMUSP00000131827
Gene: ENSMUSG00000049676

Domain	Start	End	E-Value	Type
Pfam:CATSPERG	1	111	1.4e-44	PFAM
Pfam:CATSPERG	108	334	8.5e-93	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000166419

Predicted Effect

probably benign
Transcript: ENSMUST00000169143

SMART Domains

Protein: ENSMUSP00000129837
Gene: ENSMUSG00000049676

Domain	Start	End	E-Value	Type
Pfam:CATSPERG	2	973	N/A	PFAM
transmembrane domain	1065	1087	N/A	INTRINSIC
low complexity region	1111	1126	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172226

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170118

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171102

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000166654

Predicted Effect

probably benign
Transcript: ENSMUST00000209034

Predicted Effect

probably benign
Transcript: ENSMUST00000186182

SMART Domains

Protein: ENSMUSP00000139514
Gene: ENSMUSG00000030591

Domain	Start	End	E-Value	Type
low complexity region	11	23	N/A	INTRINSIC
low complexity region	60	82	N/A	INTRINSIC
Pfam:SAC3_GANP	113	296	1.3e-37	PFAM
Pfam:PCI_Csn8	189	330	2.3e-42	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000182328

SMART Domains

Protein: ENSMUSP00000138613
Gene: ENSMUSG00000030591

Domain	Start	End	E-Value	Type
low complexity region	2	18	N/A	INTRINSIC
Pfam:SAC3_GANP	49	232	1.2e-37	PFAM
Pfam:PCI_Csn8	125	266	4.1e-42	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1b8	T	A	6: 34,340,271 (GRCm39)	M145K	possibly damaging	Het
Arhgap39	T	C	15: 76,610,167 (GRCm39)	D943G	probably null	Het
Arhgap42	A	T	9: 9,006,507 (GRCm39)	W630R	probably damaging	Het
Bbs5	T	A	2: 69,493,424 (GRCm39)	S225T	probably benign	Het
Cacna1f	A	T	X: 7,491,606 (GRCm39)	N1159Y	probably damaging	Het
Cemip2	A	C	19: 21,779,251 (GRCm39)	I354L	probably benign	Het
Cep15	T	C	14: 12,287,380 (GRCm38)	L55P	probably damaging	Het
Cep97	A	T	16: 55,750,957 (GRCm39)	W20R	probably damaging	Het
Cmtm8	G	A	9: 114,618,773 (GRCm39)	T160M	probably damaging	Het
Csf2ra	A	G	19: 61,214,434 (GRCm39)	S244P	possibly damaging	Het
Dnah7b	C	T	1: 46,397,307 (GRCm39)	P3913S	probably benign	Het
Dnai4	T	C	4: 102,944,527 (GRCm39)		probably null	Het
Ezh1	C	T	11: 101,106,084 (GRCm39)	M100I	probably benign	Het
Gadl1	C	A	9: 115,778,653 (GRCm39)	P189Q	probably damaging	Het
Gcnt2	G	A	13: 41,041,549 (GRCm39)	S236N	probably benign	Het
H1f7	A	C	15: 98,154,262 (GRCm39)	Y296D	unknown	Het
Hmcn1	T	A	1: 150,459,031 (GRCm39)	D5191V	probably damaging	Het
Mycbp2	A	T	14: 103,365,415 (GRCm39)	D4194E	probably damaging	Het
Ncf2	C	A	1: 152,700,074 (GRCm39)	T203K	probably benign	Het
Or5a1	C	A	19: 12,097,921 (GRCm39)	V40L	probably benign	Het
Pate8	G	A	9: 36,492,662 (GRCm39)	T81I	probably benign	Het
Phf8	T	A	X: 150,333,871 (GRCm39)	V113E	probably damaging	Het
Pkm	G	T	9: 59,577,805 (GRCm39)	K207N	probably damaging	Het
Slco1a6	G	T	6: 142,078,935 (GRCm39)	S120*	probably null	Het
Sox10	C	T	15: 79,040,473 (GRCm39)	V195M	possibly damaging	Het
Swt1	A	G	1: 151,297,855 (GRCm39)	I24T	probably benign	Het
Thada	T	C	17: 84,754,072 (GRCm39)	T300A	probably benign	Het
Vmn2r17	T	C	5: 109,600,384 (GRCm39)	Y561H	probably damaging	Het

Other mutations in Catsperg1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00808:Catsperg1	APN	7	28,897,571 (GRCm39)	missense	probably damaging	1.00
IGL01935:Catsperg1	APN	7	28,895,296 (GRCm39)	splice site	probably null
IGL02484:Catsperg1	APN	7	28,910,345 (GRCm39)	start gained	probably benign
IGL02584:Catsperg1	APN	7	28,884,146 (GRCm39)	missense	probably damaging	1.00
IGL02880:Catsperg1	APN	7	28,894,910 (GRCm39)	missense	possibly damaging	0.75
IGL03268:Catsperg1	APN	7	28,899,668 (GRCm39)	missense	probably damaging	1.00
IGL03285:Catsperg1	APN	7	28,897,597 (GRCm39)	missense	possibly damaging	0.89
solid	UTSW	7	28,889,723 (GRCm39)	nonsense	probably null
K7894:Catsperg1	UTSW	7	28,896,579 (GRCm39)	intron	probably benign
R0180:Catsperg1	UTSW	7	28,889,856 (GRCm39)	splice site	probably null
R0344:Catsperg1	UTSW	7	28,894,965 (GRCm39)	missense	probably damaging	1.00
R0523:Catsperg1	UTSW	7	28,884,615 (GRCm39)	unclassified	probably benign
R0561:Catsperg1	UTSW	7	28,881,737 (GRCm39)	missense	probably damaging	1.00
R0610:Catsperg1	UTSW	7	28,890,044 (GRCm39)	missense	probably damaging	1.00
R0762:Catsperg1	UTSW	7	28,889,377 (GRCm39)	missense	probably benign	0.03
R1074:Catsperg1	UTSW	7	28,906,274 (GRCm39)	missense	probably damaging	1.00
R1201:Catsperg1	UTSW	7	28,891,095 (GRCm39)	missense	possibly damaging	0.77
R1346:Catsperg1	UTSW	7	28,881,759 (GRCm39)	splice site	probably null
R1387:Catsperg1	UTSW	7	28,906,289 (GRCm39)	missense	probably damaging	1.00
R1467:Catsperg1	UTSW	7	28,884,433 (GRCm39)	missense	probably damaging	1.00
R1467:Catsperg1	UTSW	7	28,884,433 (GRCm39)	missense	probably damaging	1.00
R1486:Catsperg1	UTSW	7	28,884,920 (GRCm39)	missense	probably damaging	1.00
R1883:Catsperg1	UTSW	7	28,881,661 (GRCm39)	critical splice donor site	probably null
R1932:Catsperg1	UTSW	7	28,897,568 (GRCm39)	missense	probably damaging	1.00
R1942:Catsperg1	UTSW	7	28,906,232 (GRCm39)	missense	possibly damaging	0.89
R2127:Catsperg1	UTSW	7	28,884,465 (GRCm39)	missense	probably damaging	1.00
R2205:Catsperg1	UTSW	7	28,884,671 (GRCm39)	nonsense	probably null
R4214:Catsperg1	UTSW	7	28,895,357 (GRCm39)	missense	possibly damaging	0.80
R4678:Catsperg1	UTSW	7	28,889,721 (GRCm39)	missense	probably benign	0.13
R5008:Catsperg1	UTSW	7	28,894,859 (GRCm39)	nonsense	probably null
R5217:Catsperg1	UTSW	7	28,889,723 (GRCm39)	nonsense	probably null
R5268:Catsperg1	UTSW	7	28,894,672 (GRCm39)	missense	probably benign	0.41
R5372:Catsperg1	UTSW	7	28,910,137 (GRCm39)	missense	probably benign	0.08
R5393:Catsperg1	UTSW	7	28,884,924 (GRCm39)	missense	probably damaging	1.00
R5406:Catsperg1	UTSW	7	28,884,948 (GRCm39)	missense	probably damaging	1.00
R5557:Catsperg1	UTSW	7	28,895,296 (GRCm39)	missense	possibly damaging	0.89
R5921:Catsperg1	UTSW	7	28,889,948 (GRCm39)	missense	possibly damaging	0.78
R5928:Catsperg1	UTSW	7	28,906,040 (GRCm39)	missense	probably damaging	0.99
R5960:Catsperg1	UTSW	7	28,884,208 (GRCm39)	unclassified	probably benign
R6053:Catsperg1	UTSW	7	28,910,239 (GRCm39)	nonsense	probably null
R6144:Catsperg1	UTSW	7	28,910,120 (GRCm39)	missense	probably damaging	0.99
R6215:Catsperg1	UTSW	7	28,899,664 (GRCm39)	missense	probably damaging	1.00
R6334:Catsperg1	UTSW	7	28,905,782 (GRCm39)	missense	probably benign	0.01
R6446:Catsperg1	UTSW	7	28,905,992 (GRCm39)	missense	probably benign	0.00
R6854:Catsperg1	UTSW	7	28,881,127 (GRCm39)	missense	possibly damaging	0.72
R7171:Catsperg1	UTSW	7	28,884,637 (GRCm39)	missense	probably damaging	1.00
R7326:Catsperg1	UTSW	7	28,910,184 (GRCm39)	missense	possibly damaging	0.82
R7382:Catsperg1	UTSW	7	28,904,269 (GRCm39)	missense	probably benign	0.02
R7473:Catsperg1	UTSW	7	28,894,903 (GRCm39)	missense	probably damaging	1.00
R7555:Catsperg1	UTSW	7	28,889,239 (GRCm39)	missense	probably damaging	0.97
R7714:Catsperg1	UTSW	7	28,884,907 (GRCm39)	missense	probably null	1.00
R7914:Catsperg1	UTSW	7	28,894,851 (GRCm39)	missense	probably benign
R7935:Catsperg1	UTSW	7	28,895,344 (GRCm39)	missense	possibly damaging	0.94
R8684:Catsperg1	UTSW	7	28,897,825 (GRCm39)	missense	probably damaging	1.00
R8733:Catsperg1	UTSW	7	28,891,111 (GRCm39)	missense	possibly damaging	0.95
R8821:Catsperg1	UTSW	7	28,904,361 (GRCm39)	splice site	probably benign
R9014:Catsperg1	UTSW	7	28,906,066 (GRCm39)	missense	probably damaging	1.00
R9016:Catsperg1	UTSW	7	28,891,162 (GRCm39)	missense	probably benign
R9093:Catsperg1	UTSW	7	28,884,152 (GRCm39)	missense	probably damaging	1.00
R9094:Catsperg1	UTSW	7	28,884,152 (GRCm39)	missense	probably damaging	1.00
R9096:Catsperg1	UTSW	7	28,884,152 (GRCm39)	missense	probably damaging	1.00
R9146:Catsperg1	UTSW	7	28,909,912 (GRCm39)	missense	probably benign	0.07
R9149:Catsperg1	UTSW	7	28,909,912 (GRCm39)	missense	probably benign	0.07
R9297:Catsperg1	UTSW	7	28,891,085 (GRCm39)	missense	probably benign	0.23
R9339:Catsperg1	UTSW	7	28,894,885 (GRCm39)	missense	probably benign	0.44
R9435:Catsperg1	UTSW	7	28,889,751 (GRCm39)	missense	probably benign	0.02
R9451:Catsperg1	UTSW	7	28,897,772 (GRCm39)	critical splice donor site	probably null
R9478:Catsperg1	UTSW	7	28,897,777 (GRCm39)	missense	possibly damaging	0.55
R9557:Catsperg1	UTSW	7	28,904,223 (GRCm39)	missense	probably damaging	1.00
Z1186:Catsperg1	UTSW	7	28,881,287 (GRCm39)	missense	possibly damaging	0.85
Z1186:Catsperg1	UTSW	7	28,881,286 (GRCm39)	missense	possibly damaging	0.85
Z1186:Catsperg1	UTSW	7	28,889,675 (GRCm39)	missense	probably benign
Z1186:Catsperg1	UTSW	7	28,881,547 (GRCm39)	missense	probably benign	0.00
Z1186:Catsperg1	UTSW	7	28,881,477 (GRCm39)	missense	probably damaging	1.00
Z1186:Catsperg1	UTSW	7	28,881,297 (GRCm39)	missense	probably benign	0.00

Posted On

2014-01-21