Incidental Mutation 'R5928:Catsperg1'
ID 460007
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 044123-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.078) question?
Stock # R5928 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 28880746-28913460 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 28906040 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 180 (S180T)
Ref Sequence ENSEMBL: ENSMUSP00000129837 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047846] [ENSMUST00000069861] [ENSMUST00000163782] [ENSMUST00000164653] [ENSMUST00000169143]
AlphaFold E9Q355
Predicted Effect probably damaging
Transcript: ENSMUST00000047846
AA Change: S180T

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000045233
Gene: ENSMUSG00000049676
AA Change: S180T

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: ENSMUST00000069861
SMART Domains Protein: ENSMUSP00000067388
Gene: ENSMUSG00000049676

DomainStartEndE-ValueType
Pfam:CATSPERG 1 57 7.9e-14 PFAM
Pfam:CATSPERG 73 205 7e-65 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000085819
Predicted Effect noncoding transcript
Transcript: ENSMUST00000163445
Predicted Effect noncoding transcript
Transcript: ENSMUST00000163614
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: ENSMUST00000172226
Predicted Effect probably damaging
Transcript: ENSMUST00000169143
AA Change: S180T

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000129837
Gene: ENSMUSG00000049676
AA Change: S180T

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: ENSMUST00000167064
Predicted Effect noncoding transcript
Transcript: ENSMUST00000166654
Predicted Effect noncoding transcript
Transcript: ENSMUST00000165907
Predicted Effect noncoding transcript
Transcript: ENSMUST00000166419
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.8%
  • 20x: 93.3%
Validation Efficiency 97% (90/93)
Allele List at MGI
Other mutations in this stock
Total: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 T A 17: 24,537,159 (GRCm39) I475L probably benign Het
Abcc2 C T 19: 43,807,797 (GRCm39) R813W probably damaging Het
Adam34 T C 8: 44,105,067 (GRCm39) T193A probably benign Het
Adgb T C 10: 10,254,531 (GRCm39) D1118G probably damaging Het
Adprh A C 16: 38,267,746 (GRCm39) S180A probably benign Het
Atad5 A T 11: 79,985,003 (GRCm39) D30V probably damaging Het
Best3 G A 10: 116,843,532 (GRCm39) D303N probably damaging Het
Bmp2k G C 5: 97,235,595 (GRCm39) probably benign Het
Btc A T 5: 91,514,004 (GRCm39) V86E probably damaging Het
Cacna2d4 G T 6: 119,258,659 (GRCm39) A582S probably benign Het
Carm1 A G 9: 21,486,598 (GRCm39) probably benign Het
Ccdc185 A T 1: 182,575,047 (GRCm39) H547Q probably benign Het
Ccl6 A G 11: 83,479,658 (GRCm39) I115T possibly damaging Het
Cd44 C T 2: 102,654,648 (GRCm39) V470M probably damaging Het
Cdc25a T C 9: 109,718,861 (GRCm39) V354A probably damaging Het
Cdhr2 C A 13: 54,881,832 (GRCm39) Q1122K probably benign Het
Cep290 A G 10: 100,387,692 (GRCm39) K1958E probably damaging Het
Cfap53 C T 18: 74,492,811 (GRCm39) P512S possibly damaging Het
Chrdl2 A T 7: 99,659,200 (GRCm39) probably benign Het
Cibar1 A G 4: 12,171,919 (GRCm39) probably benign Het
Clec7a A T 6: 129,442,430 (GRCm39) F199Y probably damaging Het
Cracd A C 5: 76,989,581 (GRCm39) probably benign Het
Dhx29 A G 13: 113,101,002 (GRCm39) K1182E probably benign Het
Dnah11 G T 12: 117,878,371 (GRCm39) probably null Het
Dnmt3a A G 12: 3,916,096 (GRCm39) S94G possibly damaging Het
Ecpas A T 4: 58,849,948 (GRCm39) M425K possibly damaging Het
Egfem1 T C 3: 29,637,077 (GRCm39) V42A possibly damaging Het
Eif3e T A 15: 43,138,728 (GRCm39) probably null Het
Exosc9 T A 3: 36,609,774 (GRCm39) probably benign Het
Fbxw18 T A 9: 109,529,149 (GRCm39) T135S probably damaging Het
Fbxw21 T C 9: 108,972,893 (GRCm39) E347G possibly damaging Het
Gcm2 A G 13: 41,256,874 (GRCm39) Y292H probably benign Het
Gltpd2 C A 11: 70,410,179 (GRCm39) Q46K probably benign Het
Gm6741 A G 17: 91,544,528 (GRCm39) Y97C probably damaging Het
Golgb1 T C 16: 36,732,349 (GRCm39) L532S probably damaging Het
Hdac3 C T 18: 38,074,394 (GRCm39) probably benign Het
Helz2 A T 2: 180,872,177 (GRCm39) F2554L possibly damaging Het
Hmbox1 T A 14: 65,061,122 (GRCm39) H384L possibly damaging Het
Hmcn1 G T 1: 150,474,648 (GRCm39) D4746E possibly damaging Het
Il17rb C A 14: 29,726,232 (GRCm39) probably null Het
Irak2 A T 6: 113,653,587 (GRCm39) I252F probably damaging Het
Khnyn C T 14: 56,123,344 (GRCm39) R33C probably damaging Het
Ksr1 G A 11: 78,950,545 (GRCm39) P20L probably damaging Het
Lamc3 T C 2: 31,811,721 (GRCm39) Y903H probably benign Het
Miga2 T C 2: 30,258,875 (GRCm39) probably benign Het
Mroh2a A C 1: 88,169,340 (GRCm39) I672L probably benign Het
Ncoa4 T C 14: 31,888,678 (GRCm39) probably null Het
Nphp3 T C 9: 103,912,996 (GRCm39) Y925H probably benign Het
Nr2c1 T G 10: 94,024,055 (GRCm39) L420R probably damaging Het
Onecut1 A G 9: 74,770,066 (GRCm39) N163S probably benign Het
Or5ac21 G A 16: 59,123,521 (GRCm39) E2K probably damaging Het
Or5d47 T A 2: 87,804,380 (GRCm39) S210C probably benign Het
Or7e166 A T 9: 19,625,049 (GRCm39) T309S probably benign Het
Pcdhb18 G A 18: 37,623,537 (GRCm39) R289Q probably benign Het
Per2 C T 1: 91,372,373 (GRCm39) V234I probably damaging Het
Pign A G 1: 105,485,792 (GRCm39) V735A possibly damaging Het
Plekha7 T C 7: 115,727,809 (GRCm39) K85R probably benign Het
Pnma2 C T 14: 67,154,323 (GRCm39) T249I probably benign Het
Polr2b A G 5: 77,493,189 (GRCm39) D1057G probably damaging Het
Polrmt A T 10: 79,576,186 (GRCm39) L519H probably damaging Het
Ptar1 T C 19: 23,695,277 (GRCm39) I248T probably benign Het
Ptprh A C 7: 4,576,507 (GRCm39) L251R probably damaging Het
Purg T C 8: 33,876,980 (GRCm39) M206T probably benign Het
Pwp2 A T 10: 78,018,290 (GRCm39) F134I probably damaging Het
Riok3 T A 18: 12,286,075 (GRCm39) H434Q probably benign Het
Sorbs2 A G 8: 46,216,220 (GRCm39) I187V probably damaging Het
Tbc1d2b T C 9: 90,101,197 (GRCm39) I598V probably benign Het
Tdg T A 10: 82,477,204 (GRCm39) V85E probably benign Het
Tfb1m C T 17: 3,593,422 (GRCm39) V166I probably benign Het
Tmem163 A T 1: 127,419,383 (GRCm39) M274K probably damaging Het
Tpr T C 1: 150,303,878 (GRCm39) I1343T probably benign Het
Ttn T A 2: 76,719,794 (GRCm39) probably benign Het
Tut7 G A 13: 59,969,880 (GRCm39) A5V probably benign Het
Usp34 A G 11: 23,386,040 (GRCm39) T2156A probably damaging Het
Vmn1r215 A T 13: 23,260,487 (GRCm39) T176S possibly damaging Het
Vps52 C T 17: 34,180,100 (GRCm39) P268L possibly damaging Het
Xbp1 G A 11: 5,473,514 (GRCm39) probably benign Het
Ythdc2 T A 18: 44,966,272 (GRCm39) F169L probably benign Het
Zfyve16 T C 13: 92,658,625 (GRCm39) R429G probably benign Het
Zzef1 A G 11: 72,803,678 (GRCm39) E2504G 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
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'- TCATATTCACATAGAACCTGCAAGC -3'
(R):5'- CCAAACTGCTTGATGGTGGTG -3'

Sequencing Primer
(F):5'- TCCAGTGAGGAATGCCATCTCAG -3'
(R):5'- CTTGATGGTGGTGGGTGG -3'
Posted On 2017-02-28