Incidental Mutation 'R7555:Catsperg1'
ID 584694
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 045623-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.078) question?
Stock # R7555 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 28880746-28913460 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 28889239 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Serine at position 866 (I866S)
Ref Sequence ENSEMBL: ENSMUSP00000129837 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047846] [ENSMUST00000163782] [ENSMUST00000164653] [ENSMUST00000169143]
AlphaFold E9Q355
Predicted Effect probably damaging
Transcript: ENSMUST00000047846
AA Change: I813S

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000045233
Gene: ENSMUSG00000049676
AA Change: I813S

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: 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: I866S

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000129837
Gene: ENSMUSG00000049676
AA Change: I866S

DomainStartEndE-ValueType
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 0.6467 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (83/83)
Allele List at MGI
Other mutations in this stock
Total: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm1 T A 4: 144,248,924 (GRCm39) I97N probably damaging Het
Acvrl1 A G 15: 101,041,354 (GRCm39) H502R probably benign Het
Adgrf4 T C 17: 42,983,494 (GRCm39) S63G probably benign Het
Agbl2 C A 2: 90,621,899 (GRCm39) L129I probably damaging Het
Ankrd11 C A 8: 123,614,145 (GRCm39) A2542S probably damaging Het
Armc9 A G 1: 86,203,400 (GRCm39) K818R probably damaging Het
Arsj T A 3: 126,231,885 (GRCm39) C210* probably null Het
Aspscr1 C T 11: 120,563,926 (GRCm39) A11V unknown Het
Bicc1 G T 10: 70,792,121 (GRCm39) Q296K possibly damaging Het
Borcs5 A C 6: 134,662,942 (GRCm39) Q73P probably benign Het
Capn15 G T 17: 26,182,406 (GRCm39) D567E probably damaging Het
Ccdc27 G T 4: 154,126,274 (GRCm39) H72N unknown Het
Ccser2 A T 14: 36,601,457 (GRCm39) M309K possibly damaging Het
Cd1d2 A G 3: 86,894,408 (GRCm39) S59G probably benign Het
Chml G A 1: 175,515,456 (GRCm39) P155L probably benign Het
Csmd2 C T 4: 128,346,251 (GRCm39) P1504S Het
Dcbld2 A G 16: 58,269,081 (GRCm39) probably null Het
Ddx21 C T 10: 62,434,022 (GRCm39) E246K probably benign Het
Dhx29 C T 13: 113,064,176 (GRCm39) probably benign Het
Dis3l A C 9: 64,219,219 (GRCm39) Y570* probably null Het
Dnah14 T A 1: 181,597,619 (GRCm39) Y3623N probably benign Het
Dock8 A G 19: 25,152,764 (GRCm39) D1610G probably damaging Het
Dync1h1 T C 12: 110,597,059 (GRCm39) S1669P probably benign Het
Eif1ad12 A C 12: 87,541,505 (GRCm39) K5N unknown Het
Eif2ak4 T A 2: 118,247,764 (GRCm39) I267N possibly damaging Het
Ern2 A T 7: 121,769,464 (GRCm39) V854E probably damaging Het
Fuca2 G A 10: 13,383,174 (GRCm39) probably null Het
Gbp10 G A 5: 105,384,015 (GRCm39) probably benign Het
Gm1110 T A 9: 26,804,924 (GRCm39) T380S probably benign Het
Golga2 G A 2: 32,178,178 (GRCm39) R29H probably benign Het
Grik5 T C 7: 24,760,022 (GRCm39) E259G probably benign Het
Grm3 T C 5: 9,620,000 (GRCm39) T415A probably benign Het
Gtf3c1 A G 7: 125,244,842 (GRCm39) Y1731H probably damaging Het
Hectd2 T C 19: 36,589,803 (GRCm39) C643R probably damaging Het
Hgfac T C 5: 35,199,972 (GRCm39) S118P probably damaging Het
Hmcn1 A G 1: 150,480,625 (GRCm39) V4517A probably benign Het
Hnrnpc A T 14: 52,312,610 (GRCm39) L290* probably null Het
Homer3 A G 8: 70,742,063 (GRCm39) E108G probably damaging Het
Hsd17b3 G T 13: 64,219,816 (GRCm39) S141R probably benign Het
Hspa12b C T 2: 130,980,396 (GRCm39) T105I probably damaging Het
Ifi202b T C 1: 173,799,787 (GRCm39) I231M probably damaging Het
Inhba T A 13: 16,192,222 (GRCm39) N114K probably benign Het
Kmt2b C A 7: 30,268,835 (GRCm39) M2631I possibly damaging Het
Loxhd1 C T 18: 77,483,061 (GRCm39) T1214I probably damaging Het
Lrp1 G T 10: 127,382,731 (GRCm39) N3683K probably damaging Het
Lrrc8e A G 8: 4,284,363 (GRCm39) K196R probably benign Het
Lrrn3 A T 12: 41,502,910 (GRCm39) M469K probably benign Het
Mafb T C 2: 160,207,749 (GRCm39) E283G probably damaging Het
Mapt C A 11: 104,189,528 (GRCm39) P182Q probably benign Het
Mmp14 G T 14: 54,675,199 (GRCm39) R277L possibly damaging Het
Mucl2 T A 15: 103,927,711 (GRCm39) N82I probably benign Het
Nsun6 T A 2: 15,001,150 (GRCm39) T469S possibly damaging Het
Or13p4 T C 4: 118,546,839 (GRCm39) D270G possibly damaging Het
Or5p79 G C 7: 108,221,933 (GRCm39) A305P probably damaging Het
Or8k30 A C 2: 86,339,691 (GRCm39) D296A probably damaging Het
Osbpl5 A T 7: 143,248,670 (GRCm39) F631I possibly damaging Het
Otud3 G T 4: 138,629,196 (GRCm39) D190E possibly damaging Het
Pcdhb6 A T 18: 37,468,332 (GRCm39) I418F possibly damaging Het
Per1 G A 11: 68,997,339 (GRCm39) R838H probably damaging Het
Per2 G A 1: 91,362,857 (GRCm39) P395S probably damaging Het
Per3 G A 4: 151,102,515 (GRCm39) Q583* probably null Het
Pkhd1l1 A T 15: 44,414,157 (GRCm39) H2808L possibly damaging Het
Ppfia2 A G 10: 106,763,687 (GRCm39) T1227A probably benign Het
Pramel30 T C 4: 144,059,311 (GRCm39) F341L probably benign Het
Psg17 C T 7: 18,551,019 (GRCm39) D279N probably benign Het
Rnf167 A G 11: 70,541,623 (GRCm39) D235G probably benign Het
Rxfp3 A G 15: 11,036,362 (GRCm39) S337P probably damaging Het
Sall1 T C 8: 89,759,786 (GRCm39) D106G possibly damaging Het
Sema4f A G 6: 82,891,037 (GRCm39) V590A probably benign Het
Setd1b A G 5: 123,295,820 (GRCm39) D1102G unknown Het
Six2 C A 17: 85,995,135 (GRCm39) K82N probably damaging Het
Snx29 T C 16: 11,218,806 (GRCm39) M214T probably benign Het
Son T C 16: 91,455,810 (GRCm39) L1519P probably damaging Het
Speer1h A T 5: 11,647,579 (GRCm39) N106Y probably damaging Het
Spin1 C T 13: 51,303,085 (GRCm39) S226L probably benign Het
Stxbp5l T C 16: 37,143,965 (GRCm39) D131G probably damaging Het
Svep1 T C 4: 58,069,422 (GRCm39) Y2788C probably damaging Het
Tbl3 C A 17: 24,920,950 (GRCm39) probably null Het
Themis A T 10: 28,657,698 (GRCm39) I242L possibly damaging Het
Tmem203 G A 2: 25,145,742 (GRCm39) V21M probably benign Het
Trp53inp1 T C 4: 11,169,750 (GRCm39) C171R probably benign Het
Tsg101 A G 7: 46,563,159 (GRCm39) Y32H probably damaging Het
Tyw1 A G 5: 130,303,547 (GRCm39) D305G probably damaging Het
Vmn1r40 A T 6: 89,692,026 (GRCm39) Y281F probably damaging Het
Vmn2r105 T A 17: 20,447,937 (GRCm39) T296S probably damaging Het
Vmn2r13 T C 5: 109,319,557 (GRCm39) probably null Het
Zfp933 A G 4: 147,910,589 (GRCm39) F336L 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
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
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'- AGCAGTGTGTAATTGCAATTGG -3'
(R):5'- TGGTTGGACGTAACATCAAGAAGAC -3'

Sequencing Primer
(F):5'- TGGCCTCTTAAAGCACCAGG -3'
(R):5'- GAAGACTTCCATGTTGATCAAGG -3'
Posted On 2019-10-17