Incidental Mutation 'R9093:Catsperg1'
ID 691137
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
Accession Numbers
Essential gene? Probably non essential (E-score: 0.078) question?
Stock # R9093 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 28880746-28913460 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to C at 28884152 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Arginine at position 987 (T987R)
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: T934R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000045233
Gene: ENSMUSG00000049676
AA Change: T934R

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: T987R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000129837
Gene: ENSMUSG00000049676
AA Change: T987R

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: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency 97% (76/78)
Allele List at MGI
Other mutations in this stock
Total: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 A T 2: 69,069,513 (GRCm39) V1294E probably damaging Het
Ada C T 2: 163,577,308 (GRCm39) G60D probably benign Het
Aff3 G T 1: 38,291,738 (GRCm39) R390S possibly damaging Het
Aldh3b3 T A 19: 4,013,959 (GRCm39) N53K possibly damaging Het
Ankrd36 G A 11: 5,589,132 (GRCm39) M410I probably benign Het
Ap2b1 T A 11: 83,215,395 (GRCm39) I113N probably damaging Het
Art5 G T 7: 101,747,396 (GRCm39) H128N probably benign Het
Calhm2 A C 19: 47,121,599 (GRCm39) L190R probably benign Het
Cdh18 A T 15: 23,474,064 (GRCm39) I645F probably damaging Het
Cenpe C T 3: 134,945,641 (GRCm39) Q1052* probably null Het
Cfap221 G T 1: 119,863,856 (GRCm39) Q563K probably damaging Het
Cfap54 T A 10: 92,651,770 (GRCm39) E3093D probably benign Het
Chd4 A G 6: 125,090,974 (GRCm39) M1186V probably benign Het
Chst15 A T 7: 131,870,646 (GRCm39) probably null Het
Clca3a2 T C 3: 144,781,481 (GRCm39) T688A probably benign Het
Cmtm1 TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG 8: 105,036,334 (GRCm39) probably null Het
Cul1 T A 6: 47,495,173 (GRCm39) N518K probably damaging Het
E230025N22Rik G T 18: 36,821,952 (GRCm39) L247I possibly damaging Het
Eno4 A T 19: 58,941,600 (GRCm39) K174* probably null Het
Enpp3 G A 10: 24,671,702 (GRCm39) P431S probably benign Het
Fbh1 T A 2: 11,764,801 (GRCm39) Q444H probably damaging Het
Fbxo31 G A 8: 122,281,136 (GRCm39) R337C probably damaging Het
Fbxw14 A G 9: 109,105,250 (GRCm39) I305T probably benign Het
Fhip1b T A 7: 105,034,599 (GRCm39) T408S probably damaging Het
Gas2 T A 7: 51,602,969 (GRCm39) C216S probably damaging Het
Gjb3 GCCAGATGCGCCCA GCCAGATGCGCCCAGATGCGCCCA 4: 127,220,458 (GRCm39) probably null Het
Glp2r T A 11: 67,621,459 (GRCm39) R344* probably null Het
Gm17430 A G 18: 9,726,640 (GRCm39) Y11H probably damaging Het
Gyg1 T A 3: 20,176,901 (GRCm39) D363V probably damaging Het
H2bc18 G A 3: 96,177,290 (GRCm39) A75T probably benign Het
Hectd4 A G 5: 121,411,677 (GRCm39) N451S probably benign Het
Hif1a T C 12: 73,979,111 (GRCm39) Y212H probably benign Het
Hoxd11 A T 2: 74,514,482 (GRCm39) *337C probably null Het
Kif24 A G 4: 41,428,691 (GRCm39) F90L probably benign Het
Klhl20 A T 1: 160,923,231 (GRCm39) C497* probably null Het
Loxl1 C A 9: 58,219,224 (GRCm39) A316S probably benign Het
Lrig3 C T 10: 125,845,950 (GRCm39) P793L possibly damaging Het
Macc1 A G 12: 119,410,561 (GRCm39) D443G probably benign Het
Maip1 A T 1: 57,446,311 (GRCm39) Y127F possibly damaging Het
Mrm2 A T 5: 140,314,427 (GRCm39) F136Y probably benign Het
Nasp G T 4: 116,468,017 (GRCm39) L323I probably benign Het
Ndufb8 A T 19: 44,538,823 (GRCm39) L166Q probably damaging Het
Nid2 C T 14: 19,858,009 (GRCm39) T1274I Het
Nup210 T A 6: 91,066,872 (GRCm39) T160S probably benign Het
Nutm2 A G 13: 50,628,964 (GRCm39) K676R probably damaging Het
Odad1 G A 7: 45,596,965 (GRCm39) V431I possibly damaging Het
Or10a3n T C 7: 108,493,609 (GRCm39) R7G probably benign Het
Or2a20 A G 6: 43,194,500 (GRCm39) T218A probably benign Het
Or56b1b A T 7: 108,164,454 (GRCm39) C183S probably damaging Het
Or5ak20 T A 2: 85,183,852 (GRCm39) R139S probably benign Het
Or7g33 A G 9: 19,448,914 (GRCm39) V104A probably benign Het
Or8b9 A T 9: 37,766,294 (GRCm39) Y60F probably damaging Het
Or9m1 A T 2: 87,733,480 (GRCm39) I180N probably benign Het
Pcdhga12 C A 18: 37,899,931 (GRCm39) N254K possibly damaging Het
Pm20d1 G T 1: 131,743,753 (GRCm39) V473F probably benign Het
Pou2af2 G A 9: 51,201,516 (GRCm39) P180L possibly damaging Het
Rab11fip1 A G 8: 27,633,355 (GRCm39) V596A probably damaging Het
Rapgef6 C T 11: 54,487,912 (GRCm39) Q13* probably null Het
Rasef T C 4: 73,698,583 (GRCm39) D26G probably benign Het
Rbfox2 A T 15: 77,190,658 (GRCm39) V29E probably benign Het
Recql4 G A 15: 76,589,685 (GRCm39) P787S unknown Het
Rnf19a A C 15: 36,253,450 (GRCm39) probably benign Het
Rnf214 A G 9: 45,811,054 (GRCm39) I203T probably damaging Het
Rnmt A C 18: 68,451,146 (GRCm39) E396D probably benign Het
Scn4a G A 11: 106,210,638 (GRCm39) S1793L probably benign Het
Sdcbp G T 4: 6,386,709 (GRCm39) probably null Het
Slfn3 A G 11: 83,103,948 (GRCm39) N273S probably damaging Het
Slk A G 19: 47,603,883 (GRCm39) D209G Het
Tent5b A G 4: 133,214,352 (GRCm39) T408A probably damaging Het
Tmem135 T A 7: 88,797,204 (GRCm39) M351L probably benign Het
Tmem64 A G 4: 15,266,391 (GRCm39) H147R probably benign Het
Tnfsf4 T C 1: 161,244,629 (GRCm39) L106P probably damaging Het
Tonsl A T 15: 76,515,270 (GRCm39) C1039S probably damaging Het
Ube4a A T 9: 44,864,462 (GRCm39) F44I possibly damaging Het
Vmn2r40 A G 7: 8,911,172 (GRCm39) L707P Het
Vmn2r87 G A 10: 130,308,165 (GRCm39) T691I probably benign Het
Wbp11 A T 6: 136,803,044 (GRCm39) S7T possibly damaging Het
Zfp386 C A 12: 116,023,878 (GRCm39) S532* 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
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
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
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'- AGGTAGAAGGTTTGCCTGGC -3'
(R):5'- TATGCAGGGGACTCTTTCTGC -3'

Sequencing Primer
(F):5'- AAGGTTTGCCTGGCATACAC -3'
(R):5'- AGGGGACTCTTTCTGCAAGCTAC -3'
Posted On 2021-12-30