Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03285:Catsperg1'

415677

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 #

IGL03285

Quality Score

Status

Chromosome

Chromosomal Location

28880746-28913460 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 28897597 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 229 (N229S)

Ref Sequence

ENSEMBL: ENSMUSP00000131827 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047846] [ENSMUST00000069861] [ENSMUST00000163782] [ENSMUST00000164653] [ENSMUST00000169143]

AlphaFold

E9Q355

Predicted Effect

possibly damaging
Transcript: ENSMUST00000047846
AA Change: N416S

PolyPhen 2 Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000045233
Gene: ENSMUSG00000049676
AA Change: N416S

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: ENSMUST00000069861

SMART Domains

Protein: ENSMUSP00000067388
Gene: ENSMUSG00000049676

Domain	Start	End	E-Value	Type
Pfam:CATSPERG	1	57	7.9e-14	PFAM
Pfam:CATSPERG	73	205	7e-65	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000085819

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000163445

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000163614

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

possibly damaging
Transcript: ENSMUST00000164653
AA Change: N229S

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000131827
Gene: ENSMUSG00000049676
AA Change: N229S

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000169143
AA Change: N416S

PolyPhen 2 Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000129837
Gene: ENSMUSG00000049676
AA Change: N416S

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: ENSMUST00000166654

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172226

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000166419

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000165907

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ank2	C	A	3: 126,749,519 (GRCm39)	E503D	probably damaging	Het
Atp7a	A	T	X: 105,153,381 (GRCm39)	E1094D	probably benign	Het
Carf	A	G	1: 60,185,313 (GRCm39)	T453A	probably damaging	Het
Ctdspl2	T	C	2: 121,817,480 (GRCm39)	Y176H	probably damaging	Het
Dnah7b	A	T	1: 46,221,535 (GRCm39)	N1213I	probably benign	Het
Fgfr3	G	A	5: 33,892,557 (GRCm39)	R726H	probably damaging	Het
Garre1	T	C	7: 33,984,416 (GRCm39)	H69R	possibly damaging	Het
Gm1527	A	T	3: 28,974,566 (GRCm39)	I460F	probably damaging	Het
Gm382	T	C	X: 125,969,318 (GRCm39)	I501T	possibly damaging	Het
Igfl3	T	C	7: 17,914,172 (GRCm39)		probably benign	Het
Igkv2-109	T	C	6: 68,279,902 (GRCm39)	I41T	probably damaging	Het
Itga4	A	C	2: 79,109,510 (GRCm39)	K236N	possibly damaging	Het
Kcnj1	A	T	9: 32,308,157 (GRCm39)	T174S	possibly damaging	Het
Kif17	A	G	4: 137,996,301 (GRCm39)	T93A	probably damaging	Het
Lamc1	G	T	1: 153,103,431 (GRCm39)	N1378K	possibly damaging	Het
Ldlrad2	T	C	4: 137,300,955 (GRCm39)	M28V	probably benign	Het
Lrrc37a	C	T	11: 103,388,499 (GRCm39)	E2309K	unknown	Het
Met	T	C	6: 17,553,336 (GRCm39)	S1041P	probably damaging	Het
Nscme3l	A	G	19: 5,553,205 (GRCm39)	L192P	probably damaging	Het
Rimbp3	T	C	16: 17,031,096 (GRCm39)	S1507P	probably benign	Het
Slc7a2	A	G	8: 41,368,030 (GRCm39)	D598G	possibly damaging	Het
Tdo2	A	G	3: 81,866,096 (GRCm39)		probably null	Het
Ugt2b37	T	C	5: 87,388,734 (GRCm39)	D493G	probably damaging	Het
Vps50	G	A	6: 3,555,011 (GRCm39)	V395I	possibly 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
IGL01693:Catsperg1	APN	7	28,884,523 (GRCm39)	unclassified	probably benign
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
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

2016-08-02