Incidental Mutation 'R6413:Spmip6'
ID 514804
Institutional Source Beutler Lab
Gene Symbol Spmip6
Ensembl Gene ENSMUSG00000028441
Gene Name sperm microtubule inner protein 6
Synonyms 1110017D15Rik, Smrp1, Cbe1
MMRRC Submission 044555-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6413 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 41505009-41517333 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 41505135 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 196 (V196D)
Ref Sequence ENSEMBL: ENSMUSP00000092744 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030152] [ENSMUST00000054920] [ENSMUST00000095126] [ENSMUST00000149596]
AlphaFold Q2MH31
Predicted Effect probably benign
Transcript: ENSMUST00000030152
SMART Domains Protein: ENSMUSP00000030152
Gene: ENSMUSG00000028441

DomainStartEndE-ValueType
Pfam:SMRP1 1 260 3.3e-157 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000054920
SMART Domains Protein: ENSMUSP00000059038
Gene: ENSMUSG00000046312

DomainStartEndE-ValueType
transmembrane domain 56 78 N/A INTRINSIC
Pfam:Glyco_hydro_31 311 712 9.7e-55 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000095126
AA Change: V196D

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000092744
Gene: ENSMUSG00000028441
AA Change: V196D

DomainStartEndE-ValueType
Pfam:SMRP1 1 202 6.5e-102 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123356
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123865
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124019
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138217
Predicted Effect silent
Transcript: ENSMUST00000125303
SMART Domains Protein: ENSMUSP00000122537
Gene: ENSMUSG00000028441

DomainStartEndE-ValueType
Pfam:SMRP1 1 176 5.2e-87 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000149596
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134546
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.1%
Validation Efficiency 100% (37/37)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nuclear- or perinuclear-localized protein with no predicted domains or similarity to other known proteins. Expression of this gene is induced during the differentiation of bronchial epithelial cells, and the encoded protein may play a role in ciliogenesis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110070M22Rik C A 13: 119,624,647 (GRCm39) probably benign Het
Agtpbp1 A G 13: 59,647,834 (GRCm39) V662A possibly damaging Het
Ambra1 T G 2: 91,599,429 (GRCm39) V183G possibly damaging Het
Amdhd2 A G 17: 24,377,290 (GRCm39) S208P probably damaging Het
Ankdd1a C T 9: 65,417,654 (GRCm39) V133I probably benign Het
Ankrd35 A G 3: 96,592,129 (GRCm39) K805R probably damaging Het
Arhgap28 T C 17: 68,182,583 (GRCm39) Q270R probably benign Het
Cabp2 G A 19: 4,135,698 (GRCm39) probably null Het
Ccnt1 A G 15: 98,441,850 (GRCm39) S473P probably benign Het
Cenpt G A 8: 106,572,973 (GRCm39) P373S possibly damaging Het
Cyp3a44 T A 5: 145,731,254 (GRCm39) D182V probably damaging Het
Ddx54 A G 5: 120,765,127 (GRCm39) T799A probably benign Het
Dtna T A 18: 23,755,071 (GRCm39) D464E probably damaging Het
E030025P04Rik T C 11: 109,030,425 (GRCm39) Y154C unknown Het
Ephb2 C A 4: 136,498,433 (GRCm39) E215D probably benign Het
Eya4 T C 10: 22,992,724 (GRCm39) D445G probably damaging Het
Flg2 A T 3: 93,127,683 (GRCm39) L2198F unknown Het
Idh2 TCCCAGG T 7: 79,748,079 (GRCm39) probably benign Het
Klhl22 T C 16: 17,607,181 (GRCm39) F496L probably benign Het
Numa1 A T 7: 101,639,778 (GRCm39) probably null Het
Papola T C 12: 105,772,763 (GRCm39) probably benign Het
Phldb1 T C 9: 44,607,440 (GRCm39) E1255G probably damaging Het
Rgs8 A T 1: 153,568,619 (GRCm39) D168V probably damaging Het
Rlf A G 4: 121,004,522 (GRCm39) V1486A probably damaging Het
Rpa2 G T 4: 132,501,156 (GRCm39) A118S probably benign Het
Rsf1 G A 7: 97,229,117 (GRCm39) probably benign Het
Serpina1f T A 12: 103,659,953 (GRCm39) I110F probably damaging Het
Serpini2 T C 3: 75,166,921 (GRCm39) Y112C probably damaging Het
Sh2b3 A G 5: 121,966,986 (GRCm39) Y43H probably damaging Het
Shank2 A G 7: 143,963,955 (GRCm39) E514G probably damaging Het
Slc44a5 T C 3: 153,963,387 (GRCm39) F388S probably benign Het
Tmem176b T C 6: 48,815,266 (GRCm39) N9S possibly damaging Het
Trip11 T A 12: 101,851,790 (GRCm39) Q758L probably benign Het
Trrap T A 5: 144,720,856 (GRCm39) I231N possibly damaging Het
Ttn A T 2: 76,730,397 (GRCm39) probably benign Het
Vmn2r68 T C 7: 84,870,973 (GRCm39) N770S probably damaging Het
Vmn2r73 A T 7: 85,519,544 (GRCm39) Y471* probably null Het
Vmn2r8 T G 5: 108,949,589 (GRCm39) E419D probably benign Het
Wdfy4 C A 14: 32,689,604 (GRCm39) L2818F probably damaging Het
Zfhx4 A T 3: 5,308,205 (GRCm39) Y477F probably damaging Het
Other mutations in Spmip6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00820:Spmip6 APN 4 41,507,178 (GRCm39) missense probably damaging 1.00
IGL01062:Spmip6 APN 4 41,511,433 (GRCm39) missense probably damaging 1.00
IGL02645:Spmip6 APN 4 41,517,080 (GRCm39) missense probably damaging 1.00
IGL03124:Spmip6 APN 4 41,507,287 (GRCm39) missense possibly damaging 0.87
R0284:Spmip6 UTSW 4 41,507,538 (GRCm39) missense probably damaging 1.00
R1760:Spmip6 UTSW 4 41,507,330 (GRCm39) critical splice acceptor site probably null
R1761:Spmip6 UTSW 4 41,507,223 (GRCm39) missense probably damaging 1.00
R2073:Spmip6 UTSW 4 41,507,519 (GRCm39) critical splice donor site probably null
R2180:Spmip6 UTSW 4 41,507,170 (GRCm39) missense probably benign 0.00
R4414:Spmip6 UTSW 4 41,505,574 (GRCm39) missense possibly damaging 0.71
R4415:Spmip6 UTSW 4 41,505,574 (GRCm39) missense possibly damaging 0.71
R4416:Spmip6 UTSW 4 41,505,574 (GRCm39) missense possibly damaging 0.71
R4417:Spmip6 UTSW 4 41,505,574 (GRCm39) missense possibly damaging 0.71
R4516:Spmip6 UTSW 4 41,517,200 (GRCm39) unclassified probably benign
R5132:Spmip6 UTSW 4 41,517,178 (GRCm39) unclassified probably benign
R6132:Spmip6 UTSW 4 41,517,160 (GRCm39) start codon destroyed probably null 0.98
R8519:Spmip6 UTSW 4 41,505,071 (GRCm39) missense possibly damaging 0.93
R9493:Spmip6 UTSW 4 41,508,614 (GRCm39) missense
R9594:Spmip6 UTSW 4 41,505,091 (GRCm39) missense
Predicted Primers PCR Primer
(F):5'- ACTCGGGCGTGTCTGAAATG -3'
(R):5'- TCCCAGGGCTTTATACAAAGGG -3'

Sequencing Primer
(F):5'- GGGGTGGGTTTCCTTATCTCATACAG -3'
(R):5'- GCTTTATACAAAGGGTAAGAGGTC -3'
Posted On 2018-05-04