Incidental Mutation 'R2073:Spmip6'
ID 227312
Institutional Source Beutler Lab
Gene Symbol Spmip6
Ensembl Gene ENSMUSG00000028441
Gene Name sperm microtubule inner protein 6
Synonyms 1110017D15Rik, Smrp1, Cbe1
MMRRC Submission 040078-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2073 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 41505009-41517333 bp(-) (GRCm38)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 41507519 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000030152] [ENSMUST00000030152] [ENSMUST00000054920] [ENSMUST00000095126] [ENSMUST00000095126] [ENSMUST00000149596]
AlphaFold Q2MH31
Predicted Effect probably null
Transcript: ENSMUST00000030152
SMART Domains Protein: ENSMUSP00000030152
Gene: ENSMUSG00000028441

DomainStartEndE-ValueType
Pfam:SMRP1 1 260 3.3e-157 PFAM
Predicted Effect probably null
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 probably null
Transcript: ENSMUST00000095126
SMART Domains Protein: ENSMUSP00000092744
Gene: ENSMUSG00000028441

DomainStartEndE-ValueType
Pfam:SMRP1 1 202 6.5e-102 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000095126
SMART Domains Protein: ENSMUSP00000092744
Gene: ENSMUSG00000028441

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 probably null
Transcript: ENSMUST00000125303
SMART Domains Protein: ENSMUSP00000122537
Gene: ENSMUSG00000028441

DomainStartEndE-ValueType
Pfam:SMRP1 1 176 5.2e-87 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000125303
SMART Domains Protein: ENSMUSP00000122537
Gene: ENSMUSG00000028441

DomainStartEndE-ValueType
Pfam:SMRP1 1 176 5.2e-87 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134546
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138217
Predicted Effect probably benign
Transcript: ENSMUST00000149596
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency
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: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057M21Rik T C 7: 131,357,513 (GRCm38) R153G probably benign Het
4930430A15Rik T C 2: 111,200,418 (GRCm38) E382G probably damaging Het
5730596B20Rik C A 6: 52,178,982 (GRCm38) Y9* probably null Het
Aco1 G A 4: 40,183,605 (GRCm38) G508S probably damaging Het
Acot3 A G 12: 84,053,456 (GRCm38) H2R possibly damaging Het
Adamts13 T A 2: 27,006,314 (GRCm38) C1240S probably damaging Het
Adra1b T C 11: 43,835,871 (GRCm38) N73S probably damaging Het
Aebp2 G A 6: 140,633,694 (GRCm38) S219N probably benign Het
Akap8l C T 17: 32,332,483 (GRCm38) R511H probably damaging Het
Ank T C 15: 27,565,022 (GRCm38) S270P probably benign Het
Ankle1 G A 8: 71,409,329 (GRCm38) R492H possibly damaging Het
Ankub1 G A 3: 57,692,292 (GRCm38) H19Y possibly damaging Het
Anln C A 9: 22,333,168 (GRCm38) W1083L probably benign Het
Apaf1 G T 10: 91,031,694 (GRCm38) S763* probably null Het
Apba3 A G 10: 81,269,294 (GRCm38) T134A probably benign Het
Armh3 A T 19: 45,965,381 (GRCm38) I188K probably damaging Het
Bod1l C T 5: 41,819,189 (GRCm38) S1594N probably benign Het
C7 T C 15: 4,990,428 (GRCm38) M746V probably benign Het
Cdkn2a T A 4: 89,294,493 (GRCm38) I11F possibly damaging Het
Cideb T C 14: 55,755,160 (GRCm38) M100V possibly damaging Het
Cntnap5c T C 17: 58,305,552 (GRCm38) L862P possibly damaging Het
Coch A T 12: 51,602,689 (GRCm38) D261V probably benign Het
Cyp2ab1 A G 16: 20,313,889 (GRCm38) F220L possibly damaging Het
Ddx10 A T 9: 53,240,505 (GRCm38) D73E probably benign Het
Dgkg A G 16: 22,565,317 (GRCm38) F462S probably damaging Het
Dlgap3 C T 4: 127,195,366 (GRCm38) H252Y probably damaging Het
Dmd G C X: 84,312,483 (GRCm38) A2257P probably benign Het
Dnai4 G A 4: 103,050,193 (GRCm38) T632M probably damaging Het
Dtnb A G 12: 3,781,273 (GRCm38) T658A probably benign Het
Duox2 T A 2: 122,295,158 (GRCm38) S323C probably damaging Het
Dync1h1 T A 12: 110,614,592 (GRCm38) I251N probably damaging Het
Eml5 A G 12: 98,802,446 (GRCm38) S1457P probably damaging Het
Fam114a1 T A 5: 64,995,904 (GRCm38) probably null Het
Fcho1 A T 8: 71,710,489 (GRCm38) L632Q probably damaging Het
Gm12695 T C 4: 96,723,945 (GRCm38) Y527C possibly damaging Het
Gm16223 T C 5: 42,214,599 (GRCm38) C111R unknown Het
H2-Q4 T A 17: 35,380,402 (GRCm38) S154T possibly damaging Het
Hhat A G 1: 192,727,379 (GRCm38) F125L possibly damaging Het
Ier5l T A 2: 30,473,056 (GRCm38) D319V probably damaging Het
Kif5a T C 10: 127,245,369 (GRCm38) D232G probably damaging Het
M1ap A G 6: 82,981,882 (GRCm38) I165V probably benign Het
Map2k4 A C 11: 65,693,456 (GRCm38) F334V probably damaging Het
Mmp19 G A 10: 128,794,979 (GRCm38) R156H probably damaging Het
Mpped2 T A 2: 106,744,802 (GRCm38) Y77* probably null Het
Nhs T A X: 161,842,721 (GRCm38) H544L probably damaging Het
Nr4a1 C A 15: 101,274,067 (GRCm38) H541N probably damaging Het
Or4a74 A G 2: 89,609,478 (GRCm38) V208A probably benign Het
Or5b122 A T 19: 13,585,601 (GRCm38) Q99L probably damaging Het
Pak6 A C 2: 118,688,851 (GRCm38) N17T probably damaging Het
Pcnt T A 10: 76,380,380 (GRCm38) T2225S possibly damaging Het
Pdzd2 A G 15: 12,385,819 (GRCm38) L955P probably damaging Het
Phf21a A G 2: 92,348,036 (GRCm38) D357G probably damaging Het
Pih1d3 A G 1: 31,222,996 (GRCm38) S20G probably benign Het
Pkhd1l1 G T 15: 44,558,639 (GRCm38) A3102S probably damaging Het
Plch2 A T 4: 154,989,909 (GRCm38) L754Q probably damaging Het
Plekhd1 A G 12: 80,721,292 (GRCm38) N335D probably benign Het
Pole C A 5: 110,325,551 (GRCm38) T1737N probably damaging Het
Pramel6 G A 2: 87,508,744 (GRCm38) S96N probably damaging Het
Prdm14 A C 1: 13,125,730 (GRCm38) Y36D possibly damaging Het
Psg27 T C 7: 18,560,417 (GRCm38) D355G probably damaging Het
Rfc1 A T 5: 65,301,939 (GRCm38) D225E probably damaging Het
Sec16a A G 2: 26,440,239 (GRCm38) I588T probably damaging Het
Setd6 G A 8: 95,716,788 (GRCm38) V60M probably damaging Het
Sgk3 A G 1: 9,891,424 (GRCm38) I432V probably benign Het
Six2 A G 17: 85,687,505 (GRCm38) S150P probably damaging Het
Slc1a6 T C 10: 78,800,130 (GRCm38) V343A possibly damaging Het
Slc43a3 T C 2: 84,944,612 (GRCm38) probably null Het
Smc3 A G 19: 53,631,533 (GRCm38) D620G probably benign Het
Smg6 C G 11: 74,930,294 (GRCm38) P464A probably damaging Het
Sox11 T C 12: 27,342,279 (GRCm38) T44A possibly damaging Het
Spata22 A G 11: 73,336,226 (GRCm38) R89G possibly damaging Het
Stk3 T C 15: 34,959,049 (GRCm38) M256V possibly damaging Het
Syne2 A G 12: 76,015,579 (GRCm38) D4226G possibly damaging Het
Tecpr2 T C 12: 110,968,429 (GRCm38) S1370P possibly damaging Het
Tek A G 4: 94,827,729 (GRCm38) I463V probably benign Het
Trib1 T A 15: 59,654,340 (GRCm38) I253N probably damaging Het
Triobp G T 15: 78,973,895 (GRCm38) G1232V probably damaging Het
Trpm6 G A 19: 18,876,042 (GRCm38) V1809M probably damaging Het
Tsc22d4 A G 5: 137,762,487 (GRCm38) K57E possibly damaging Het
Vmn2r109 T A 17: 20,564,712 (GRCm38) K15N probably benign Het
Wnt9a A G 11: 59,331,229 (GRCm38) N318D probably damaging Het
Wwp1 A G 4: 19,662,181 (GRCm38) V138A possibly damaging Het
Zfp37 A T 4: 62,191,708 (GRCm38) M411K probably damaging Het
Zfp715 T A 7: 43,311,120 (GRCm38) T16S probably benign Het
Zfp932 A G 5: 110,009,818 (GRCm38) T461A possibly damaging Het
Zscan29 A T 2: 121,160,855 (GRCm38) C817* probably null Het
Other mutations in Spmip6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00820:Spmip6 APN 4 41,507,178 (GRCm38) missense probably damaging 1.00
IGL01062:Spmip6 APN 4 41,511,433 (GRCm38) missense probably damaging 1.00
IGL02645:Spmip6 APN 4 41,517,080 (GRCm38) missense probably damaging 1.00
IGL03124:Spmip6 APN 4 41,507,287 (GRCm38) missense possibly damaging 0.87
R0284:Spmip6 UTSW 4 41,507,538 (GRCm38) missense probably damaging 1.00
R1760:Spmip6 UTSW 4 41,507,330 (GRCm38) critical splice acceptor site probably null
R1761:Spmip6 UTSW 4 41,507,223 (GRCm38) missense probably damaging 1.00
R2180:Spmip6 UTSW 4 41,507,170 (GRCm38) missense probably benign 0.00
R4414:Spmip6 UTSW 4 41,505,574 (GRCm38) missense possibly damaging 0.71
R4415:Spmip6 UTSW 4 41,505,574 (GRCm38) missense possibly damaging 0.71
R4416:Spmip6 UTSW 4 41,505,574 (GRCm38) missense possibly damaging 0.71
R4417:Spmip6 UTSW 4 41,505,574 (GRCm38) missense possibly damaging 0.71
R4516:Spmip6 UTSW 4 41,517,200 (GRCm38) unclassified probably benign
R5132:Spmip6 UTSW 4 41,517,178 (GRCm38) unclassified probably benign
R6132:Spmip6 UTSW 4 41,517,160 (GRCm38) start codon destroyed probably null 0.98
R6413:Spmip6 UTSW 4 41,505,135 (GRCm38) missense possibly damaging 0.86
R8519:Spmip6 UTSW 4 41,505,071 (GRCm38) missense possibly damaging 0.93
R9493:Spmip6 UTSW 4 41,508,614 (GRCm38) missense
R9594:Spmip6 UTSW 4 41,505,091 (GRCm38) missense
Predicted Primers PCR Primer
(F):5'- GACAGCGAGTTCAGCATGTTC -3'
(R):5'- ATTCTGGGAGGGCATTTCC -3'

Sequencing Primer
(F):5'- GCGAGTTCAGCATGTTCACCAC -3'
(R):5'- TGGAGTCAGTTCGAGGAA -3'
Posted On 2014-09-17