Incidental Mutation 'R8975:Spmip4'
ID 683376
Institutional Source Beutler Lab
Gene Symbol Spmip4
Ensembl Gene ENSMUSG00000029828
Gene Name sperm microtubule inner protein 4
Synonyms 4921507P07Rik
MMRRC Submission 068809-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.054) question?
Stock # R8975 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 50550282-50573612 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 50561391 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 176 (R176H)
Ref Sequence ENSEMBL: ENSMUSP00000031852 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031852]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000031852
AA Change: R176H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000031852
Gene: ENSMUSG00000029828
AA Change: R176H

DomainStartEndE-ValueType
Pfam:DUF4555 1 283 2e-149 PFAM
Meta Mutation Damage Score 0.2165 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (64/64)
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700018F24Rik A G 5: 144,980,192 (GRCm39) D47G probably damaging Het
4930550C14Rik A T 9: 53,334,258 (GRCm39) K167M possibly damaging Het
Abhd16b A G 2: 181,135,806 (GRCm39) N236S probably benign Het
Ahnak T G 19: 8,990,101 (GRCm39) V3795G probably damaging Het
Atg2b A T 12: 105,602,725 (GRCm39) M1606K probably damaging Het
Bmt2 A T 6: 13,630,611 (GRCm39) I187K probably damaging Het
Cep250 C T 2: 155,812,042 (GRCm39) A446V unknown Het
Cep290 A G 10: 100,349,782 (GRCm39) N610D possibly damaging Het
Ctps1 C T 4: 120,406,743 (GRCm39) D338N probably benign Het
Ctsz A T 2: 174,275,421 (GRCm39) I118N probably benign Het
Depdc1b A G 13: 108,525,094 (GRCm39) E483G probably null Het
Dhh T C 15: 98,795,976 (GRCm39) S60G probably damaging Het
Dpagt1 T C 9: 44,237,446 (GRCm39) probably benign Het
Dpy19l1 T C 9: 24,359,102 (GRCm39) K162R probably damaging Het
Dynap T C 18: 70,375,093 (GRCm39) T41A possibly damaging Het
Dyrk4 T C 6: 126,871,783 (GRCm39) N162D probably benign Het
Efcab3 A G 11: 104,954,415 (GRCm39) K5090E probably benign Het
Eml5 T A 12: 98,776,829 (GRCm39) T1429S probably damaging Het
Fbn2 C T 18: 58,286,928 (GRCm39) G244R probably damaging Het
Fer1l5 A G 1: 36,456,897 (GRCm39) D1625G probably benign Het
Frmd4b G A 6: 97,283,477 (GRCm39) T484M possibly damaging Het
Hhat T C 1: 192,431,250 (GRCm39) E33G probably damaging Het
Ifngr1 A G 10: 19,485,360 (GRCm39) D453G probably damaging Het
Itpr3 T A 17: 27,335,628 (GRCm39) I2246N possibly damaging Het
Larp4b T G 13: 9,195,537 (GRCm39) I212S probably damaging Het
Lilra5 T C 7: 4,241,636 (GRCm39) V145A probably benign Het
Map1lc3a A G 2: 155,118,926 (GRCm39) K30R possibly damaging Het
Mapk8ip1 A G 2: 92,215,166 (GRCm39) Y652H probably damaging Het
Med23 A G 10: 24,780,334 (GRCm39) E994G probably benign Het
Mep1b A T 18: 21,208,714 (GRCm39) D30V probably benign Het
Mki67 C A 7: 135,297,364 (GRCm39) A2557S possibly damaging Het
Mki67 T C 7: 135,300,129 (GRCm39) D1635G probably benign Het
Msantd5f6 A G 4: 73,320,167 (GRCm39) L204P probably damaging Het
Mup3 A T 4: 62,003,472 (GRCm39) D132E probably benign Het
Myo15b A T 11: 115,781,780 (GRCm39) T2830S unknown Het
Myocd T A 11: 65,069,287 (GRCm39) H979L probably damaging Het
Nvl A T 1: 180,958,001 (GRCm39) N260K probably benign Het
Or2a57 T A 6: 43,213,056 (GRCm39) H171Q probably benign Het
Or2d2b T A 7: 106,705,664 (GRCm39) T135S probably benign Het
Or4d2 T A 11: 87,784,645 (GRCm39) Y35F probably damaging Het
Pdha2 C A 3: 140,917,649 (GRCm39) probably benign Het
Peg10 GC GCTCC 6: 4,756,452 (GRCm39) probably benign Het
Phtf2 A C 5: 20,969,249 (GRCm39) V687G probably damaging Het
Plagl2 C T 2: 153,074,346 (GRCm39) G185D possibly damaging Het
Ppp1r3e A G 14: 55,113,946 (GRCm39) V242A probably benign Het
Proser3 A G 7: 30,239,458 (GRCm39) S549P possibly damaging Het
Prrc2c A G 1: 162,533,630 (GRCm39) V995A unknown Het
Ptpn13 A G 5: 103,649,266 (GRCm39) H223R probably benign Het
Rsf1 CG CGTCGGCGGGG 7: 97,229,115 (GRCm39) probably benign Het
Scn11a T C 9: 119,587,565 (GRCm39) E1393G probably damaging Het
Sipa1l1 T A 12: 82,479,612 (GRCm39) S1432T possibly damaging Het
Slc10a5 G C 3: 10,399,670 (GRCm39) A330G probably benign Het
Slc2a5 A C 4: 150,224,270 (GRCm39) N293H probably damaging Het
Spmap1 A T 11: 97,663,572 (GRCm39) Y93N probably damaging Het
Sptbn1 T C 11: 30,073,869 (GRCm39) E1400G possibly damaging Het
Stk33 T A 7: 108,935,280 (GRCm39) I171F probably damaging Het
Syne1 G A 10: 5,161,945 (GRCm39) H5450Y probably benign Het
Tbcd G C 11: 121,387,679 (GRCm39) probably benign Het
Tkt T A 14: 30,288,884 (GRCm39) probably benign Het
Tpra1 A T 6: 88,888,726 (GRCm39) M303L probably benign Het
Ubr3 T C 2: 69,752,651 (GRCm39) S303P probably damaging Het
Uqcrc1 T C 9: 108,776,721 (GRCm39) F341S probably damaging Het
Vmn1r223 T C 13: 23,434,248 (GRCm39) S281P possibly damaging Het
Vmn1r32 C A 6: 66,530,189 (GRCm39) A196S probably benign Het
Zfp644 G T 5: 106,785,467 (GRCm39) T360N probably benign Het
Other mutations in Spmip4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00852:Spmip4 APN 6 50,566,164 (GRCm39) critical splice acceptor site probably null
IGL01310:Spmip4 APN 6 50,551,175 (GRCm39) missense probably benign
IGL01568:Spmip4 APN 6 50,550,678 (GRCm39) utr 3 prime probably benign
IGL01794:Spmip4 APN 6 50,554,826 (GRCm39) missense probably damaging 1.00
IGL02718:Spmip4 APN 6 50,561,367 (GRCm39) missense probably damaging 1.00
IGL03146:Spmip4 APN 6 50,550,853 (GRCm39) missense probably damaging 0.97
IGL03381:Spmip4 APN 6 50,566,116 (GRCm39) missense probably damaging 1.00
R1173:Spmip4 UTSW 6 50,566,121 (GRCm39) missense probably damaging 0.98
R1174:Spmip4 UTSW 6 50,566,121 (GRCm39) missense probably damaging 0.98
R1175:Spmip4 UTSW 6 50,566,121 (GRCm39) missense probably damaging 0.98
R1769:Spmip4 UTSW 6 50,568,801 (GRCm39) splice site probably benign
R1883:Spmip4 UTSW 6 50,551,433 (GRCm39) missense probably benign 0.01
R2056:Spmip4 UTSW 6 50,550,725 (GRCm39) missense possibly damaging 0.71
R2437:Spmip4 UTSW 6 50,560,959 (GRCm39) missense probably damaging 1.00
R2929:Spmip4 UTSW 6 50,551,285 (GRCm39) missense probably benign 0.07
R4357:Spmip4 UTSW 6 50,551,190 (GRCm39) missense probably benign
R4666:Spmip4 UTSW 6 50,572,808 (GRCm39) missense possibly damaging 0.69
R4791:Spmip4 UTSW 6 50,572,817 (GRCm39) missense probably damaging 1.00
R4827:Spmip4 UTSW 6 50,572,836 (GRCm39) missense possibly damaging 0.76
R4976:Spmip4 UTSW 6 50,566,164 (GRCm39) critical splice acceptor site probably null
R5453:Spmip4 UTSW 6 50,572,776 (GRCm39) critical splice donor site probably null
R6689:Spmip4 UTSW 6 50,566,089 (GRCm39) critical splice donor site probably null
R6897:Spmip4 UTSW 6 50,566,145 (GRCm39) missense possibly damaging 0.82
R7718:Spmip4 UTSW 6 50,566,078 (GRCm39) splice site probably null
R8475:Spmip4 UTSW 6 50,566,107 (GRCm39) missense probably damaging 0.99
R8885:Spmip4 UTSW 6 50,551,028 (GRCm39) missense possibly damaging 0.95
R9626:Spmip4 UTSW 6 50,550,930 (GRCm39) missense
X0021:Spmip4 UTSW 6 50,550,906 (GRCm39) missense probably benign
Z1176:Spmip4 UTSW 6 50,551,001 (GRCm39) missense possibly damaging 0.55
Z1177:Spmip4 UTSW 6 50,568,672 (GRCm39) missense probably benign 0.17
Predicted Primers PCR Primer
(F):5'- AGGTCAGCTGGGCATCTTTC -3'
(R):5'- CAGCATGTATTGTACCACAGC -3'

Sequencing Primer
(F):5'- ACCTACTGGTGCTAGGTCAC -3'
(R):5'- CAGCAAACACTGGATGGGTTCTTTAC -3'
Posted On 2021-10-11