Incidental Mutation 'R1883:Catsperg1'
ID 209257
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 039904-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.078) question?
Stock # R1883 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 28880746-28913460 bp(-) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to T at 28881661 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000129837 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047846] [ENSMUST00000047846] [ENSMUST00000059642] [ENSMUST00000163782] [ENSMUST00000164653] [ENSMUST00000169143] [ENSMUST00000169143] [ENSMUST00000209034] [ENSMUST00000182328] [ENSMUST00000186182]
AlphaFold E9Q355
Predicted Effect probably null
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 null
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 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 probably null
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 probably null
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: ENSMUST00000207087
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 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
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
Coding Region Coverage
  • 1x: 97.3%
  • 3x: 96.8%
  • 10x: 95.4%
  • 20x: 93.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ano9 T C 7: 140,682,244 (GRCm39) E677G probably benign Het
Auh G A 13: 52,989,532 (GRCm39) P308L probably benign Het
Bhmt1b T C 18: 87,774,669 (GRCm39) L64P probably damaging Het
Brs3 T C X: 56,092,449 (GRCm39) I311T probably benign Het
Capn9 A G 8: 125,338,297 (GRCm39) K552R probably benign Het
Cdc16 A G 8: 13,825,738 (GRCm39) N449D probably damaging Het
Cdyl2 A T 8: 117,321,902 (GRCm39) N208K probably damaging Het
Cnot4 C T 6: 35,055,092 (GRCm39) V66I probably damaging Het
Cntn4 A G 6: 106,656,353 (GRCm39) T885A probably benign Het
Col20a1 C T 2: 180,634,703 (GRCm39) T131I possibly damaging Het
Crybg2 C A 4: 133,801,594 (GRCm39) S918* probably null Het
Dact2 A T 17: 14,418,085 (GRCm39) S207T possibly damaging Het
Dbnl G A 11: 5,749,247 (GRCm39) G356E probably benign Het
Ddx18 C A 1: 121,495,645 (GRCm39) probably benign Het
Dis3 A T 14: 99,328,905 (GRCm39) H282Q probably benign Het
Dnah3 T C 7: 119,677,142 (GRCm39) D453G probably benign Het
Dst T C 1: 34,228,389 (GRCm39) V1994A possibly damaging Het
Dusp8 C T 7: 141,638,085 (GRCm39) probably null Het
Eipr1 A T 12: 28,816,850 (GRCm39) H69L possibly damaging Het
Eml1 A G 12: 108,429,911 (GRCm39) R65G probably damaging Het
Epha7 C T 4: 28,950,362 (GRCm39) H722Y possibly damaging Het
Epyc A T 10: 97,511,695 (GRCm39) K229N possibly damaging Het
Extl1 A G 4: 134,091,917 (GRCm39) I312T probably benign Het
F13a1 G C 13: 37,172,981 (GRCm39) A133G probably benign Het
Fam185a G T 5: 21,630,242 (GRCm39) C26F possibly damaging Het
Fam186b T C 15: 99,176,679 (GRCm39) N737S probably damaging Het
Fam78b A G 1: 166,829,171 (GRCm39) I13V probably benign Het
Fat1 A T 8: 45,504,184 (GRCm39) Q4559L probably benign Het
Fnip1 T C 11: 54,406,373 (GRCm39) S1157P probably damaging Het
Foxj3 A C 4: 119,467,226 (GRCm39) M190L probably benign Het
Heatr3 T C 8: 88,871,221 (GRCm39) Y192H possibly damaging Het
Hexd T A 11: 121,098,524 (GRCm39) S3T probably benign Het
Klf3 C T 5: 64,980,224 (GRCm39) P5S probably damaging Het
Klf9 C T 19: 23,142,101 (GRCm39) S187L probably damaging Het
Krt9 T C 11: 100,079,523 (GRCm39) H623R unknown Het
Krtap2-4 G C 11: 99,505,505 (GRCm39) probably benign Het
Lmtk3 T C 7: 45,436,273 (GRCm39) Y84H probably damaging Het
Mroh3 G T 1: 136,134,731 (GRCm39) A166D probably damaging Het
Musk C A 4: 58,373,189 (GRCm39) P697T probably benign Het
Nek9 A G 12: 85,379,330 (GRCm39) L192P probably damaging Het
Nipbl A C 15: 8,356,616 (GRCm39) F1590C probably damaging Het
Nrk G T X: 137,907,922 (GRCm39) V1455F probably damaging Het
Nsun3 T C 16: 62,555,656 (GRCm39) D290G probably damaging Het
Obscn T C 11: 58,969,029 (GRCm39) T222A probably damaging Het
Or2a12 T C 6: 42,904,764 (GRCm39) S200P probably damaging Het
Or51f1d T C 7: 102,701,189 (GRCm39) I228T probably benign Het
Or6b9 T C 7: 106,555,981 (GRCm39) H54R probably benign Het
Osbpl11 T G 16: 33,034,723 (GRCm39) H237Q probably benign Het
Pde10a A T 17: 9,197,776 (GRCm39) T671S possibly damaging Het
Pkd2 A T 5: 104,631,094 (GRCm39) N506I probably damaging Het
Ppp3cb A G 14: 20,573,913 (GRCm39) V274A possibly damaging Het
Prex1 T C 2: 166,425,192 (GRCm39) D938G probably benign Het
Ptch1 G A 13: 63,659,841 (GRCm39) Q1134* probably null Het
Rasgrf2 A G 13: 92,117,149 (GRCm39) V820A probably benign Het
Rimbp2 C T 5: 128,880,998 (GRCm39) V137M possibly damaging Het
Rpa1 A G 11: 75,209,309 (GRCm39) V137A probably benign Het
Rps6ka1 A C 4: 133,591,354 (GRCm39) I299S probably damaging Het
Scn3b A C 9: 40,190,669 (GRCm39) probably null Het
Sdha A T 13: 74,481,255 (GRCm39) I317N probably damaging Het
Serpina1d T A 12: 103,732,037 (GRCm39) D274V possibly damaging Het
Sik3 C G 9: 46,132,387 (GRCm39) H1276Q probably benign Het
Snx14 T A 9: 88,284,314 (GRCm39) E451D probably benign Het
Spmip4 T C 6: 50,551,433 (GRCm39) T339A probably benign Het
Swt1 T A 1: 151,299,284 (GRCm39) K8* probably null Het
Tas1r3 G T 4: 155,946,610 (GRCm39) P332T probably damaging Het
Tas2r126 A T 6: 42,411,961 (GRCm39) T165S probably benign Het
Tecpr1 A G 5: 144,143,347 (GRCm39) V676A probably benign Het
Tg A G 15: 66,543,158 (GRCm39) E24G probably damaging Het
Tlr7 C T X: 166,089,468 (GRCm39) G673S probably benign Het
Tnxb T A 17: 34,908,539 (GRCm39) D1520E probably benign Het
Trabd A G 15: 88,966,184 (GRCm39) E47G probably damaging Het
Trim29 T A 9: 43,222,702 (GRCm39) I177N probably damaging Het
Ubxn2a A T 12: 4,944,563 (GRCm39) L53* probably null Het
Ulk2 A G 11: 61,721,438 (GRCm39) L208P probably damaging Het
Unc80 G A 1: 66,564,929 (GRCm39) C872Y possibly damaging Het
Vac14 A G 8: 111,438,319 (GRCm39) H644R probably damaging Het
Vmn1r20 C A 6: 57,409,306 (GRCm39) H211N probably benign Het
Vmn1r31 C T 6: 58,449,029 (GRCm39) V279I probably damaging Het
Vmn2r18 G T 5: 151,499,190 (GRCm39) Q425K probably benign Het
Vmn2r60 T C 7: 41,786,094 (GRCm39) V299A probably damaging Het
Vps54 A T 11: 21,262,967 (GRCm39) T685S possibly damaging Het
Vwa5b1 A G 4: 138,302,700 (GRCm39) W932R probably damaging Het
Wdr53 A T 16: 32,075,316 (GRCm39) I174F possibly damaging Het
Zfp157 A G 5: 138,443,102 (GRCm39) D31G probably damaging Het
Zfp60 T C 7: 27,449,435 (GRCm39) L701P probably benign Het
Zfp609 A T 9: 65,702,040 (GRCm39) M204K probably benign Het
Zfp831 A G 2: 174,545,870 (GRCm39) H1325R possibly damaging Het
Zfp995 A T 17: 22,099,622 (GRCm39) I204N probably benign Het
Zp2 C T 7: 119,732,624 (GRCm39) D641N probably benign 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
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
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 PCR Primer
(F):5'- AATGAAGGAGGACCGCTTGC -3'
(R):5'- CTCTGAGACTAGAGACTGGAGGTG -3'

Sequencing Primer
(F):5'- AGGACCGCTTGCTGCTGAG -3'
(R):5'- GAATGCTTGCCTAACTCTCATGAGG -3'
Posted On 2014-06-30