Incidental Mutation 'R7171:Catsperg1'
ID 558265
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 045230-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.078) question?
Stock # R7171 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 28880746-28913460 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 28884637 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Valine at position 933 (G933V)
Ref Sequence ENSEMBL: ENSMUSP00000129837 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047846] [ENSMUST00000059642] [ENSMUST00000163782] [ENSMUST00000164653] [ENSMUST00000169143] [ENSMUST00000182328] [ENSMUST00000186182] [ENSMUST00000209034]
AlphaFold E9Q355
Predicted Effect probably damaging
Transcript: ENSMUST00000047846
AA Change: G880V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000045233
Gene: ENSMUSG00000049676
AA Change: G880V

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 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 probably damaging
Transcript: ENSMUST00000169143
AA Change: G933V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000129837
Gene: ENSMUSG00000049676
AA Change: G933V

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 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
Predicted Effect probably benign
Transcript: ENSMUST00000209034
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (81/81)
Allele List at MGI
Other mutations in this stock
Total: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930519P11Rik T C 2: 154,454,897 (GRCm39) N154S unknown Het
Ank3 C T 10: 69,828,311 (GRCm39) H2327Y Het
Ano6 A G 15: 95,818,172 (GRCm39) Y305C probably damaging Het
Apc2 A G 10: 80,151,170 (GRCm39) T2075A possibly damaging Het
Arl6 A G 16: 59,443,455 (GRCm39) V93A possibly damaging Het
Bcas3 T C 11: 85,474,763 (GRCm39) S790P probably damaging Het
Bcl9l C A 9: 44,416,448 (GRCm39) H211N probably benign Het
Bptf G T 11: 107,022,233 (GRCm39) D172E unknown Het
Card9 T G 2: 26,249,496 (GRCm39) I22L possibly damaging Het
Catsperg2 T A 7: 29,404,750 (GRCm39) H771L possibly damaging Het
Ccdc66 T C 14: 27,215,229 (GRCm39) N281S possibly damaging Het
Cfap54 A T 10: 92,612,072 (GRCm39) L3162H probably damaging Het
Clca4a A G 3: 144,663,934 (GRCm39) L503P probably benign Het
Cpn1 T C 19: 43,962,470 (GRCm39) N160D probably damaging Het
Ctsh T A 9: 89,949,154 (GRCm39) I206K probably benign Het
Cyb561d1 G A 3: 108,106,679 (GRCm39) T180M probably damaging Het
Dapk1 A T 13: 60,909,599 (GRCm39) D1404V probably damaging Het
Dip2c G T 13: 9,556,684 (GRCm39) R76L probably benign Het
Dnah7c T C 1: 46,719,898 (GRCm39) I2783T probably damaging Het
E130308A19Rik T C 4: 59,690,333 (GRCm39) Y56H probably damaging Het
Efemp2 G T 19: 5,530,285 (GRCm39) A310S probably benign Het
Enpp5 G A 17: 44,396,155 (GRCm39) G356S probably damaging Het
Faap24 G A 7: 35,092,279 (GRCm39) Q213* probably null Het
Fam181b G A 7: 92,729,943 (GRCm39) G239S possibly damaging Het
Fancm T C 12: 65,148,394 (GRCm39) W670R probably damaging Het
Fcgbpl1 T A 7: 27,853,944 (GRCm39) L1636* probably null Het
Fmnl1 T C 11: 103,081,224 (GRCm39) Y357H probably damaging Het
Fryl A T 5: 73,279,653 (GRCm39) V215E probably damaging Het
Fscn2 C A 11: 120,253,335 (GRCm39) N267K probably damaging Het
Fsip2 T A 2: 82,816,571 (GRCm39) Y4101* probably null Het
Gcn1 G A 5: 115,728,352 (GRCm39) V738I probably benign Het
Gdf9 C T 11: 53,328,366 (GRCm39) R441C probably damaging Het
Gipc3 C T 10: 81,177,455 (GRCm39) G79E probably damaging Het
Gzmf T A 14: 56,443,391 (GRCm39) I196L probably benign Het
Hectd1 A T 12: 51,806,080 (GRCm39) V1852E probably damaging Het
Hip1r A T 5: 124,134,007 (GRCm39) Q256L probably benign Het
Hmgxb4 T C 8: 75,746,890 (GRCm39) S405P probably damaging Het
Il9r T A 11: 32,142,671 (GRCm39) H294L probably benign Het
Kif12 G A 4: 63,086,931 (GRCm39) T331I probably damaging Het
Krtap8-1 A T 16: 89,284,794 (GRCm39) M1K probably null Het
Lamc2 A T 1: 153,015,495 (GRCm39) C613S probably damaging Het
Lgr4 T A 2: 109,831,314 (GRCm39) N314K probably benign Het
Lpcat2 T C 8: 93,635,894 (GRCm39) I432T probably benign Het
Mfhas1 T C 8: 36,056,146 (GRCm39) V207A probably benign Het
Msh3 T G 13: 92,485,806 (GRCm39) T173P probably benign Het
Mup15 T A 4: 61,356,505 (GRCm39) M87L probably benign Het
N4bp2 T C 5: 65,965,365 (GRCm39) V1138A probably benign Het
Noc2l T C 4: 156,326,179 (GRCm39) V422A probably benign Het
Notch3 C T 17: 32,377,936 (GRCm39) G74D probably damaging Het
Ocstamp T A 2: 165,240,081 (GRCm39) K35I probably benign Het
Or12k7 T C 2: 36,958,400 (GRCm39) F28L possibly damaging Het
Or52w1 A G 7: 105,017,968 (GRCm39) H145R probably benign Het
Or5p58 A G 7: 107,694,342 (GRCm39) V145A probably benign Het
Or9a2 T G 6: 41,748,961 (GRCm39) T91P probably benign Het
Plekhh2 T A 17: 84,829,216 (GRCm39) V29D probably damaging Het
Pof1b A G X: 111,554,042 (GRCm39) I544T probably benign Het
Rad54l2 C T 9: 106,590,677 (GRCm39) R483H probably damaging Het
Rapgef6 T A 11: 54,567,189 (GRCm39) D1128E possibly damaging Het
Rhbdl2 T A 4: 123,708,049 (GRCm39) I86N possibly damaging Het
Rims1 C A 1: 22,498,740 (GRCm39) R68L Het
Rnf157 A G 11: 116,253,199 (GRCm39) F70L possibly damaging Het
Rtp3 C T 9: 110,815,009 (GRCm39) C452Y unknown Het
S100a14 A T 3: 90,435,069 (GRCm39) K27* probably null Het
Scai C T 2: 38,996,948 (GRCm39) G282D possibly damaging Het
Sclt1 A T 3: 41,672,195 (GRCm39) I132N probably benign Het
Serpinf1 T A 11: 75,308,811 (GRCm39) Q2L possibly damaging Het
Skor2 T A 18: 76,948,681 (GRCm39) V801E probably benign Het
Slc16a10 C G 10: 39,913,255 (GRCm39) E484D probably benign Het
Slc1a5 T A 7: 16,531,463 (GRCm39) D489E probably damaging Het
Slx4 C T 16: 3,808,650 (GRCm39) R430H probably benign Het
Teddm1b A T 1: 153,750,679 (GRCm39) I163F probably damaging Het
Tmem171 A T 13: 98,828,744 (GRCm39) C135* probably null Het
Tmem82 C T 4: 141,342,284 (GRCm39) R306H possibly damaging Het
Tmem94 T A 11: 115,681,781 (GRCm39) probably null Het
Trpm2 A C 10: 77,759,848 (GRCm39) L1096R probably damaging Het
Trrap T A 5: 144,730,859 (GRCm39) L780Q probably damaging Het
Txlnb A G 10: 17,718,732 (GRCm39) D521G probably benign Het
Usp7 T C 16: 8,534,390 (GRCm39) D59G probably benign Het
Vcan G A 13: 89,873,710 (GRCm39) T48I probably damaging Het
Vmn1r45 A G 6: 89,910,316 (GRCm39) L218P probably damaging Het
Wdr25 A T 12: 108,990,922 (GRCm39) T370S probably damaging 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
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
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'- TCCTCCGTGTAGTCTCTGATGG -3'
(R):5'- GTGACTGTGTGTTCCATCCC -3'

Sequencing Primer
(F):5'- GTGTTCAGTGTGCGACCAC -3'
(R):5'- AGATTTACTGCCCTCCTGTCCTG -3'
Posted On 2019-06-26