Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02880:Catsperg1'

362778

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 #

IGL02880

Quality Score

Status

Chromosome

Chromosomal Location

28880746-28913460 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 28894910 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 562 (M562I)

Ref Sequence

ENSEMBL: ENSMUSP00000129837 (fasta)

Gene Model

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

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: 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

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: ENSMUST00000166654

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000166419

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172226

Predicted Effect

possibly damaging
Transcript: ENSMUST00000169143
AA Change: M562I

PolyPhen 2 Score 0.754 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000129837
Gene: ENSMUSG00000049676
AA Change: M562I

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: ENSMUST00000165907

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankzf1	T	C	1: 75,169,312 (GRCm39)	S73P	probably benign	Het
Camsap3	T	C	8: 3,653,913 (GRCm39)	Y517H	probably damaging	Het
Ccdc18	A	G	5: 108,283,310 (GRCm39)	D7G	probably benign	Het
Ccdc65	A	C	15: 98,606,973 (GRCm39)	N60T	probably damaging	Het
Cemip2	G	A	19: 21,801,207 (GRCm39)	D775N	possibly damaging	Het
Col19a1	A	G	1: 24,365,054 (GRCm39)		probably benign	Het
Ddx6	T	C	9: 44,524,194 (GRCm39)		probably benign	Het
Dync1i1	G	A	6: 5,966,821 (GRCm39)		probably null	Het
Eml6	T	C	11: 29,699,959 (GRCm39)	N1726D	probably benign	Het
Exosc10	T	C	4: 148,660,640 (GRCm39)	S706P	probably damaging	Het
Fcamr	C	T	1: 130,741,071 (GRCm39)	P497S	probably benign	Het
Galntl6	T	C	8: 58,257,306 (GRCm39)	E477G	probably benign	Het
Gatd1	T	G	7: 140,990,951 (GRCm39)	Q65H	possibly damaging	Het
Hectd4	T	A	5: 121,503,116 (GRCm39)	Y4362N	possibly damaging	Het
Lag3	A	G	6: 124,882,434 (GRCm39)	L354S	probably benign	Het
Lrp1	A	C	10: 127,376,091 (GRCm39)	V4342G	probably benign	Het
Rap1gds1	T	C	3: 138,651,517 (GRCm39)	I491V	probably benign	Het
Scrib	A	G	15: 75,937,973 (GRCm39)	L291P	probably damaging	Het
Shoc2	T	C	19: 54,019,525 (GRCm39)	Y523H	probably benign	Het
Slc47a2	C	T	11: 61,198,366 (GRCm39)	G443E	probably damaging	Het
Smarca2	T	A	19: 26,654,024 (GRCm39)		probably benign	Het
Stra6l	C	T	4: 45,885,278 (GRCm39)	T582M	possibly damaging	Het
Tmem144	G	A	3: 79,734,929 (GRCm39)	T163I	probably benign	Het
Tnfrsf17	T	C	16: 11,137,622 (GRCm39)	Y120H	probably damaging	Het
Tspan3	G	T	9: 56,053,800 (GRCm39)	Q184K	possibly damaging	Het
Ttn	A	T	2: 76,628,270 (GRCm39)	V14630D	possibly damaging	Het
Zfp236	T	A	18: 82,642,584 (GRCm39)	N1054I	probably benign	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
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

2015-12-18