Mutagenetix > Incidental Mutation

Incidental Mutation 'R7914:Catsperg1'

647960

Institutional Source

Beutler Lab

Gene Symbol

Catsperg1

Ensembl Gene

ENSMUSG00000049676

Gene Name

cation channel sperm associated auxiliary subunit gamma 1

Synonyms

A230107C01Rik, Catsperg

MMRRC Submission

045962-MU

Accession Numbers

Essential gene?

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

Stock #

R7914 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

28880746-28913460 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 28894851 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 582 (E582G)

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

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

probably benign
Transcript: ENSMUST00000169143
AA Change: E582G

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

SMART Domains

Protein: ENSMUSP00000129837
Gene: ENSMUSG00000049676
AA Change: E582G

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

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (39/39)

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	G	T	10: 100,428,538 (GRCm39)	V12F	probably benign	Het
Adnp2	T	A	18: 80,174,056 (GRCm39)	R118W	probably damaging	Het
Apaf1	G	A	10: 90,896,095 (GRCm39)	R337C	probably damaging	Het
Arhgef40	T	C	14: 52,225,032 (GRCm39)	L59P	probably damaging	Het
B020011L13Rik	A	G	1: 117,729,162 (GRCm39)	E223G	probably benign	Het
Bcl6	T	C	16: 23,788,761 (GRCm39)	R536G	possibly damaging	Het
Bltp1	A	T	3: 37,000,432 (GRCm39)	N1204Y	probably benign	Het
Ccdc136	A	G	6: 29,419,306 (GRCm39)	N942S	probably damaging	Het
Ccdc81	A	C	7: 89,524,988 (GRCm39)	M531R	possibly damaging	Het
Cep78	T	C	19: 15,953,672 (GRCm39)	E283G	probably benign	Het
Cnot1	ACG	A	8: 96,472,275 (GRCm39)		probably null	Het
E230025N22Rik	C	A	18: 36,828,605 (GRCm39)	R24S	possibly damaging	Het
Epb41l1	T	A	2: 156,364,128 (GRCm39)	M879K	probably benign	Het
Fam135a	T	C	1: 24,065,760 (GRCm39)	Y1226C	probably damaging	Het
Fbxo11	T	C	17: 88,320,031 (GRCm39)	E151G		Het
Herc6	A	G	6: 57,584,106 (GRCm39)	T322A	probably benign	Het
Inka1	T	C	9: 107,862,761 (GRCm39)		probably benign	Het
Kalrn	T	A	16: 33,849,122 (GRCm39)	Q2110L	probably benign	Het
Kti12	A	C	4: 108,705,443 (GRCm39)	E119A	probably benign	Het
Kti12	G	T	4: 108,705,444 (GRCm39)	E119D	probably benign	Het
Lrrc19	T	A	4: 94,526,537 (GRCm39)	H340L	probably damaging	Het
Mkks	A	T	2: 136,722,876 (GRCm39)	F94I	probably damaging	Het
Pcdhga3	T	A	18: 37,808,013 (GRCm39)	F155L	probably benign	Het
Pdlim1	T	A	19: 40,240,445 (GRCm39)	I53F	probably damaging	Het
Pttg1	A	T	11: 43,316,421 (GRCm39)	L26Q	probably benign	Het
Rasa4	T	A	5: 136,130,510 (GRCm39)		probably benign	Het
Rsbn1l	A	G	5: 21,110,896 (GRCm39)	S481P	probably damaging	Het
Sae1	C	A	7: 16,121,648 (GRCm39)	G10C	unknown	Het
Samd15	T	C	12: 87,248,559 (GRCm39)	S415P	probably damaging	Het
Scn7a	T	A	2: 66,530,294 (GRCm39)	I684F	probably damaging	Het
Sec23b	T	A	2: 144,406,565 (GRCm39)	M120K	probably benign	Het
Slc20a1	G	A	2: 129,049,757 (GRCm39)	D340N	probably benign	Het
Slf2	T	A	19: 44,947,499 (GRCm39)	M821K	possibly damaging	Het
Suv39h2	G	A	2: 3,465,453 (GRCm39)	R301*	probably null	Het
Tgfbi	A	G	13: 56,777,502 (GRCm39)	T329A	probably damaging	Het
Tmprss12	T	C	15: 100,183,111 (GRCm39)	F151S	probably damaging	Het
Ttn	T	C	2: 76,747,525 (GRCm39)	D4508G	probably benign	Het
Tyk2	C	A	9: 21,032,851 (GRCm39)	C304F	probably benign	Het
Vmn1r121	T	A	7: 20,831,589 (GRCm39)	T284S	probably benign	Het
Vmn2r117	A	G	17: 23,679,100 (GRCm39)	I708T	possibly damaging	Het
Vmn2r2	A	T	3: 64,041,526 (GRCm39)	D396E	probably benign	Het
Zfc3h1	A	G	10: 115,239,062 (GRCm39)		probably null	Het
Zic4	T	G	9: 91,266,181 (GRCm39)	V275G	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
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
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
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

Predicted Primers

PCR Primer
(F):5'- TCCATCAGTGTTCCCACAGG -3'
(R):5'- TTCCAAAGAGTACACATCCTTGG -3'

Sequencing Primer
(F):5'- GCAGGAGCCTCTTGACTAAACG -3'
(R):5'- TCCTGAAGACTCATATATATGCTGC -3'

Posted On

2020-09-15