Incidental Mutation 'R6564:Spam1'
ID 522323
Institutional Source Beutler Lab
Gene Symbol Spam1
Ensembl Gene ENSMUSG00000029682
Gene Name sperm adhesion molecule 1
Synonyms Ph-20
MMRRC Submission 044688-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6564 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 24791187-24801047 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 24796355 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Lysine at position 102 (I102K)
Ref Sequence ENSEMBL: ENSMUSP00000143970 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031693] [ENSMUST00000202331] [ENSMUST00000202569]
AlphaFold P48794
Predicted Effect possibly damaging
Transcript: ENSMUST00000031693
AA Change: I102K

PolyPhen 2 Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000031693
Gene: ENSMUSG00000029682
AA Change: I102K

DomainStartEndE-ValueType
Pfam:Glyco_hydro_56 42 373 4.5e-136 PFAM
Blast:EGF 376 439 5e-13 BLAST
Predicted Effect possibly damaging
Transcript: ENSMUST00000202331
AA Change: I102K

PolyPhen 2 Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000143944
Gene: ENSMUSG00000029682
AA Change: I102K

DomainStartEndE-ValueType
Pfam:Glyco_hydro_56 42 373 4.5e-136 PFAM
Blast:EGF 376 439 5e-13 BLAST
Predicted Effect possibly damaging
Transcript: ENSMUST00000202569
AA Change: I102K

PolyPhen 2 Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000143970
Gene: ENSMUSG00000029682
AA Change: I102K

DomainStartEndE-ValueType
Pfam:Glyco_hydro_56 42 373 4.5e-136 PFAM
Blast:EGF 376 439 5e-13 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202786
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.1%
  • 20x: 96.9%
Validation Efficiency 98% (56/57)
MGI Phenotype PHENOTYPE: Male homozygotes for a targeted null mutation are normally fertile, but in vitro their sperm are slower at clearing cells from the cumulus mass. [provided by MGI curators]
Allele List at MGI

All alleles(1) : Targeted, knock-out(1)

Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833420G17Rik T A 13: 119,622,613 (GRCm39) probably null Het
4931429L15Rik C A 9: 46,218,202 (GRCm39) D179Y probably damaging Het
Abca1 A T 4: 53,034,031 (GRCm39) L2233Q possibly damaging Het
Abca12 T A 1: 71,349,009 (GRCm39) E834V possibly damaging Het
Abcc9 T C 6: 142,548,834 (GRCm39) Y1318C probably damaging Het
Adam15 C A 3: 89,254,519 (GRCm39) R121L possibly damaging Het
Afdn T A 17: 14,116,351 (GRCm39) M1588K probably benign Het
Akap9 T C 5: 4,078,491 (GRCm39) S1849P probably damaging Het
Aoc1l1 T C 6: 48,954,509 (GRCm39) V549A probably benign Het
Bag6 T C 17: 35,359,347 (GRCm39) S213P probably damaging Het
Bpifb9a T C 2: 154,102,098 (GRCm39) V65A probably benign Het
Chn1 T A 2: 73,448,385 (GRCm39) I203F probably damaging Het
Crnkl1 T A 2: 145,770,165 (GRCm39) E226V possibly damaging Het
Cspg4 A G 9: 56,797,442 (GRCm39) E1302G probably benign Het
Dnah5 G T 15: 28,367,891 (GRCm39) A2759S probably benign Het
Dtx1 T A 5: 120,833,082 (GRCm39) T119S probably benign Het
Enpp5 G A 17: 44,396,155 (GRCm39) G356S probably damaging Het
Ezr C T 17: 7,010,246 (GRCm39) V268M probably damaging Het
Fbxl15 T C 19: 46,317,777 (GRCm39) V153A probably damaging Het
Fkbpl C A 17: 34,865,240 (GRCm39) A336E probably benign Het
Gsg1l2 A G 11: 67,677,330 (GRCm39) T200A possibly damaging Het
H2ax T C 9: 44,246,209 (GRCm39) Y51H probably damaging Het
Ifi213 A C 1: 173,422,862 (GRCm39) M1R probably null Het
Kcnt1 A C 2: 25,801,063 (GRCm39) D1045A probably benign Het
Kdm4a C A 4: 118,034,636 (GRCm39) A32S probably benign Het
Klkb1 A T 8: 45,726,671 (GRCm39) V444E probably damaging Het
Mccc1 T C 3: 36,030,825 (GRCm39) T414A probably damaging Het
Miga1 A C 3: 151,990,959 (GRCm39) N367K probably damaging Het
Mmp7 A G 9: 7,695,185 (GRCm39) D49G probably benign Het
Nlrp1a A G 11: 71,014,398 (GRCm39) L284P probably damaging Het
Or7g33 G A 9: 19,448,506 (GRCm39) T240I possibly damaging Het
Or9s15 T C 1: 92,524,285 (GRCm39) S15P probably benign Het
Pbld1 T A 10: 62,907,806 (GRCm39) I224N possibly damaging Het
Pih1d1 A T 7: 44,809,243 (GRCm39) R276W probably damaging Het
Plekhg1 G T 10: 3,914,153 (GRCm39) V1292L probably damaging Het
Prex2 A G 1: 11,171,285 (GRCm39) probably null Het
Rbm6 T C 9: 107,710,697 (GRCm39) Y498C probably damaging Het
Reps1 T A 10: 17,998,140 (GRCm39) probably null Het
Ruvbl1 T A 6: 88,456,208 (GRCm39) I154N possibly damaging Het
Slc4a5 T G 6: 83,257,042 (GRCm39) F616V possibly damaging Het
Spag5 A T 11: 78,206,401 (GRCm39) T798S probably damaging Het
Sptbn2 C A 19: 4,782,052 (GRCm39) F430L probably damaging Het
Svs3a T A 2: 164,131,270 (GRCm39) I21K probably damaging Het
Tet3 T A 6: 83,363,052 (GRCm39) I842L possibly damaging Het
Tlr2 T A 3: 83,745,002 (GRCm39) K360N probably benign Het
Tmem45b C G 9: 31,339,301 (GRCm39) W138S probably damaging Het
Tpgs2 T C 18: 25,291,344 (GRCm39) E40G probably damaging Het
Traj40 T C 14: 54,415,399 (GRCm39) probably benign Het
Trpm5 A G 7: 142,626,507 (GRCm39) S125P probably damaging Het
Ttc3 G T 16: 94,243,470 (GRCm39) C1158F probably damaging Het
Tubg1 T C 11: 101,011,715 (GRCm39) I74T probably damaging Het
Vav2 A T 2: 27,169,197 (GRCm39) probably null Het
Wbp4 G T 14: 79,704,868 (GRCm39) H201N probably damaging Het
Wdhd1 A G 14: 47,485,499 (GRCm39) S821P probably benign Het
Wsb2 A T 5: 117,508,625 (GRCm39) probably null Het
Zic5 A G 14: 122,696,833 (GRCm39) L594P unknown Het
Other mutations in Spam1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00535:Spam1 APN 6 24,796,722 (GRCm39) nonsense probably null
IGL02152:Spam1 APN 6 24,800,802 (GRCm39) utr 3 prime probably benign
IGL02377:Spam1 APN 6 24,796,696 (GRCm39) missense probably damaging 1.00
IGL02666:Spam1 APN 6 24,796,123 (GRCm39) missense possibly damaging 0.67
IGL02968:Spam1 APN 6 24,796,442 (GRCm39) missense possibly damaging 0.84
IGL03004:Spam1 APN 6 24,796,913 (GRCm39) missense probably damaging 1.00
IGL03136:Spam1 APN 6 24,797,010 (GRCm39) splice site probably benign
I2288:Spam1 UTSW 6 24,796,477 (GRCm39) missense probably benign 0.00
I2289:Spam1 UTSW 6 24,796,477 (GRCm39) missense probably benign 0.00
R0279:Spam1 UTSW 6 24,800,418 (GRCm39) missense probably benign
R0454:Spam1 UTSW 6 24,797,837 (GRCm39) missense probably damaging 0.99
R0486:Spam1 UTSW 6 24,796,394 (GRCm39) missense probably damaging 1.00
R0734:Spam1 UTSW 6 24,796,948 (GRCm39) missense probably benign 0.17
R0811:Spam1 UTSW 6 24,796,886 (GRCm39) missense probably damaging 1.00
R0812:Spam1 UTSW 6 24,796,886 (GRCm39) missense probably damaging 1.00
R1294:Spam1 UTSW 6 24,796,906 (GRCm39) missense probably benign 0.12
R1703:Spam1 UTSW 6 24,796,256 (GRCm39) missense probably damaging 1.00
R2156:Spam1 UTSW 6 24,796,267 (GRCm39) missense probably damaging 1.00
R2163:Spam1 UTSW 6 24,796,846 (GRCm39) missense probably benign 0.33
R2762:Spam1 UTSW 6 24,796,642 (GRCm39) missense possibly damaging 0.94
R2970:Spam1 UTSW 6 24,796,724 (GRCm39) missense probably damaging 1.00
R4646:Spam1 UTSW 6 24,800,586 (GRCm39) missense probably benign 0.01
R4664:Spam1 UTSW 6 24,796,661 (GRCm39) missense probably benign 0.01
R4923:Spam1 UTSW 6 24,796,655 (GRCm39) missense probably damaging 1.00
R5452:Spam1 UTSW 6 24,800,731 (GRCm39) missense probably benign 0.00
R5589:Spam1 UTSW 6 24,796,109 (GRCm39) missense probably benign 0.01
R5591:Spam1 UTSW 6 24,800,545 (GRCm39) missense probably damaging 0.99
R5861:Spam1 UTSW 6 24,796,570 (GRCm39) missense probably benign
R6481:Spam1 UTSW 6 24,796,929 (GRCm39) missense probably benign 0.01
R6754:Spam1 UTSW 6 24,796,315 (GRCm39) missense probably damaging 0.97
R7103:Spam1 UTSW 6 24,800,583 (GRCm39) missense probably benign 0.00
R7462:Spam1 UTSW 6 24,796,907 (GRCm39) missense probably damaging 0.99
R7559:Spam1 UTSW 6 24,800,452 (GRCm39) missense probably damaging 1.00
R8127:Spam1 UTSW 6 24,796,970 (GRCm39) missense possibly damaging 0.95
R8677:Spam1 UTSW 6 24,796,984 (GRCm39) missense probably benign 0.13
R9356:Spam1 UTSW 6 24,800,565 (GRCm39) missense probably damaging 1.00
R9783:Spam1 UTSW 6 24,796,226 (GRCm39) missense probably benign 0.01
X0022:Spam1 UTSW 6 24,797,885 (GRCm39) missense possibly damaging 0.52
Z1176:Spam1 UTSW 6 24,800,322 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGGCACATTCCAAACAGTG -3'
(R):5'- GGTTTCCAGTTTCTCAACCAGG -3'

Sequencing Primer
(F):5'- CTGTGGATTATAGGGCAGCACC -3'
(R):5'- AGTTTCTCAACCAGGTAGGC -3'
Posted On 2018-06-06