Incidental Mutation 'R0523:Catsperg1'
ID 261909
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 038716-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.078) question?
Stock # R0523 (G1)
Quality Score 91
Status Not validated
Chromosome 7
Chromosomal Location 28880746-28913460 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) G to A at 28884615 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000146882 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047846] [ENSMUST00000047846] [ENSMUST00000059642] [ENSMUST00000163782] [ENSMUST00000164653] [ENSMUST00000169143] [ENSMUST00000169143] [ENSMUST00000209034] [ENSMUST00000186182] [ENSMUST00000182328]
AlphaFold E9Q355
Predicted Effect silent
Transcript: ENSMUST00000047846
SMART Domains Protein: ENSMUSP00000045233
Gene: ENSMUSG00000049676

DomainStartEndE-ValueType
Pfam:CATSPERG 1 920 N/A PFAM
transmembrane domain 1012 1034 N/A INTRINSIC
low complexity region 1058 1073 N/A INTRINSIC
Predicted Effect silent
Transcript: ENSMUST00000047846
SMART Domains Protein: ENSMUSP00000045233
Gene: ENSMUSG00000049676

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Pfam:CATSPERG 1 93 1.7e-52 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000164653
SMART Domains Protein: ENSMUSP00000131827
Gene: ENSMUSG00000049676

DomainStartEndE-ValueType
Pfam:CATSPERG 1 111 1.4e-44 PFAM
Pfam:CATSPERG 108 334 8.5e-93 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000166419
Predicted Effect silent
Transcript: ENSMUST00000169143
SMART Domains Protein: ENSMUSP00000129837
Gene: ENSMUSG00000049676

DomainStartEndE-ValueType
Pfam:CATSPERG 2 973 N/A PFAM
transmembrane domain 1065 1087 N/A INTRINSIC
low complexity region 1111 1126 N/A INTRINSIC
Predicted Effect silent
Transcript: ENSMUST00000169143
SMART Domains Protein: ENSMUSP00000129837
Gene: ENSMUSG00000049676

DomainStartEndE-ValueType
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: ENSMUST00000171102
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172226
Predicted Effect noncoding transcript
Transcript: ENSMUST00000170118
Predicted Effect probably benign
Transcript: ENSMUST00000209034
Predicted Effect noncoding transcript
Transcript: ENSMUST00000166654
Predicted Effect probably benign
Transcript: ENSMUST00000186182
SMART Domains Protein: ENSMUSP00000139514
Gene: ENSMUSG00000030591

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 T C 6: 128,535,289 (GRCm39) D807G possibly damaging Het
Actl9 T A 17: 33,652,323 (GRCm39) W128R probably damaging Het
Aggf1 T C 13: 95,492,924 (GRCm39) I562V probably damaging Het
Ano3 T A 2: 110,715,200 (GRCm39) E79D probably benign Het
Apobec1 T A 6: 122,558,504 (GRCm39) I84F probably damaging Het
Atp6v1b2 T C 8: 69,562,637 (GRCm39) F458L possibly damaging Het
Bco2 A T 9: 50,445,926 (GRCm39) V490E probably damaging Het
Cdc37 T C 9: 21,054,292 (GRCm39) K111R probably damaging Het
Cfap54 T C 10: 92,744,745 (GRCm39) probably benign Het
Cfap91 G A 16: 38,148,736 (GRCm39) P231S probably damaging Het
Cplane1 T A 15: 8,223,870 (GRCm39) Y878N probably damaging Het
Cpox T A 16: 58,495,608 (GRCm39) C308* probably null Het
Cracdl A T 1: 37,683,710 (GRCm39) M1K probably null Het
Ctnna3 T G 10: 64,511,688 (GRCm39) M626R probably damaging Het
Cyp2c68 T C 19: 39,727,873 (GRCm39) E93G probably benign Het
Cyp2s1 G A 7: 25,505,475 (GRCm39) R330W probably damaging Het
Diaph1 C T 18: 37,989,553 (GRCm39) V860I possibly damaging Het
Dicer1 A G 12: 104,668,750 (GRCm39) S1311P probably damaging Het
Dpyd G A 3: 118,692,852 (GRCm39) R332K probably benign Het
E130308A19Rik G A 4: 59,719,716 (GRCm39) R416H probably damaging Het
Eef1d T C 15: 75,775,005 (GRCm39) D218G probably benign Het
Eif2ak1 T C 5: 143,818,984 (GRCm39) V215A probably damaging Het
Eif2ak4 T C 2: 118,272,577 (GRCm39) probably null Het
Fcrl5 T C 3: 87,365,099 (GRCm39) S583P possibly damaging Het
Garin5b A G 7: 4,762,392 (GRCm39) S246P possibly damaging Het
Grid2ip C A 5: 143,358,798 (GRCm39) Q29K possibly damaging Het
Htr1f A T 16: 64,746,262 (GRCm39) N343K probably damaging Het
Hvcn1 T C 5: 122,354,428 (GRCm39) probably null Het
Igf2r T C 17: 12,910,951 (GRCm39) I1956V probably benign Het
Impdh2 A T 9: 108,439,018 (GRCm39) probably null Het
Impdh2 C T 9: 108,439,019 (GRCm39) T96I possibly damaging Het
Lactb C G 9: 66,877,974 (GRCm39) G285A probably benign Het
Lrrc43 T C 5: 123,639,305 (GRCm39) S445P probably damaging Het
Mapk12 T G 15: 89,019,848 (GRCm39) M120L probably benign Het
Mroh8 C G 2: 157,065,956 (GRCm39) A669P probably damaging Het
Mrpl38 A C 11: 116,022,844 (GRCm39) H373Q probably benign Het
Myocd A G 11: 65,071,728 (GRCm39) V740A probably damaging Het
Naprt A G 15: 75,764,314 (GRCm39) F300S probably damaging Het
Ncam2 T C 16: 81,258,531 (GRCm39) I271T probably damaging Het
Nek4 A G 14: 30,701,995 (GRCm39) T582A probably benign Het
Notch2 C T 3: 97,978,286 (GRCm39) T89I probably benign Het
Notch2 G A 3: 98,018,914 (GRCm39) R692H probably benign Het
Nt5c3 A T 6: 56,860,666 (GRCm39) N296K probably damaging Het
Nt5c3b T A 11: 100,327,036 (GRCm39) I87F probably damaging Het
Oas3 T C 5: 120,904,209 (GRCm39) Q555R unknown Het
Or2ag17 A G 7: 106,389,533 (GRCm39) V225A probably damaging Het
Or5p69 A T 7: 107,967,438 (GRCm39) H247L probably damaging Het
Or9g19 T A 2: 85,600,273 (GRCm39) S43T probably benign Het
P3h1 C A 4: 119,098,727 (GRCm39) Q410K probably benign Het
Pax3 A G 1: 78,172,078 (GRCm39) V44A possibly damaging Het
Pde1c T A 6: 56,151,926 (GRCm39) L252F probably damaging Het
Pdzd7 T A 19: 45,024,529 (GRCm39) T497S probably benign Het
Piezo2 T C 18: 63,155,552 (GRCm39) T253A probably damaging Het
Pipox T C 11: 77,782,965 (GRCm39) E79G probably damaging Het
Pole G T 5: 110,451,459 (GRCm39) M829I probably damaging Het
Ppp1r12c A T 7: 4,492,771 (GRCm39) L156Q probably damaging Het
Psme2b T G 11: 48,836,609 (GRCm39) T113P probably damaging Het
Ptprq A G 10: 107,416,081 (GRCm39) I1739T possibly damaging Het
Qser1 T C 2: 104,620,021 (GRCm39) T174A probably damaging Het
Rcor3 T G 1: 191,814,736 (GRCm39) D81A probably damaging Het
Rev3l T C 10: 39,724,045 (GRCm39) V785A probably benign Het
Rnf11 T C 4: 109,314,119 (GRCm39) D90G probably benign Het
Sh3tc1 GCCTCCTCCTCCTCCTCC GCCTCCTCCTCCTCC 5: 35,881,410 (GRCm39) probably benign Het
Smad2 T A 18: 76,395,623 (GRCm39) S21T probably benign Het
Smc4 A G 3: 68,933,221 (GRCm39) D639G probably damaging Het
Smtn A T 11: 3,474,664 (GRCm39) S716T possibly damaging Het
Smug1 G T 15: 103,064,136 (GRCm39) Q262K probably benign Het
Sspo G T 6: 48,428,794 (GRCm39) G403V probably benign Het
Tas2r131 A G 6: 132,934,414 (GRCm39) F132L possibly damaging Het
Tgm3 T C 2: 129,886,582 (GRCm39) probably null Het
Tigd2 C T 6: 59,187,358 (GRCm39) T75M probably benign Het
Tnfrsf13b T C 11: 61,038,413 (GRCm39) V232A probably benign Het
Tnfrsf21 C T 17: 43,349,104 (GRCm39) H239Y probably benign Het
Trim47 A G 11: 115,998,716 (GRCm39) L301S probably damaging Het
Trim75 G A 8: 65,436,442 (GRCm39) H3Y probably benign Het
Trp53bp1 C A 2: 121,082,349 (GRCm39) A317S probably null Het
Tsbp1 G T 17: 34,664,473 (GRCm39) probably null Het
Ttc29 G C 8: 79,003,466 (GRCm39) L227F probably benign Het
Ttc39d G A 17: 80,523,886 (GRCm39) D182N possibly damaging Het
Ttll10 T A 4: 156,129,818 (GRCm39) R164* probably null Het
Ufsp2 T A 8: 46,449,780 (GRCm39) D447E probably benign Het
Ugt2b37 T A 5: 87,399,691 (GRCm39) L272F possibly damaging Het
Vps13b T C 15: 35,472,196 (GRCm39) V833A probably benign Het
Zbbx T C 3: 74,989,165 (GRCm39) T308A probably benign Het
Zfp933 G A 4: 147,910,919 (GRCm39) Q226* probably null Het
Other mutations in Catsperg1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
Predicted Primers
Posted On 2015-02-04