Incidental Mutation 'R5452:Spam1'
ID 432570
Institutional Source Beutler Lab
Gene Symbol Spam1
Ensembl Gene ENSMUSG00000029682
Gene Name sperm adhesion molecule 1
Synonyms Ph-20
MMRRC Submission 042848-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5452 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 24791187-24801047 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 24800731 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 490 (G490D)
Ref Sequence ENSEMBL: ENSMUSP00000143970 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031693] [ENSMUST00000202331] [ENSMUST00000202569]
AlphaFold P48794
Predicted Effect probably benign
Transcript: ENSMUST00000031693
AA Change: G490D

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000031693
Gene: ENSMUSG00000029682
AA Change: G490D

DomainStartEndE-ValueType
Pfam:Glyco_hydro_56 42 373 4.5e-136 PFAM
Blast:EGF 376 439 5e-13 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000202331
AA Change: G490D

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000143944
Gene: ENSMUSG00000029682
AA Change: G490D

DomainStartEndE-ValueType
Pfam:Glyco_hydro_56 42 373 4.5e-136 PFAM
Blast:EGF 376 439 5e-13 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000202569
AA Change: G490D

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000143970
Gene: ENSMUSG00000029682
AA Change: G490D

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: 99.3%
  • 3x: 98.7%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam20 A T 8: 41,248,801 (GRCm39) I304F probably damaging Het
Adamts5 A G 16: 85,666,800 (GRCm39) probably benign Het
Akr1c6 A G 13: 4,504,544 (GRCm39) R132G probably benign Het
Ash1l T A 3: 88,892,183 (GRCm39) M1354K possibly damaging Het
C6 T C 15: 4,844,311 (GRCm39) I911T possibly damaging Het
Calm2 T C 17: 87,743,150 (GRCm39) probably null Het
Ccdc80 G A 16: 44,938,528 (GRCm39) R745Q probably damaging Het
Celsr3 T C 9: 108,721,233 (GRCm39) I2685T possibly damaging Het
Chkb T C 15: 89,313,788 (GRCm39) probably benign Het
Dennd5b T A 6: 148,943,011 (GRCm39) probably null Het
Dnah2 T C 11: 69,415,209 (GRCm39) Y175C probably damaging Het
Dnajc13 A G 9: 104,069,313 (GRCm39) S1154P probably benign Het
Ephb4 T C 5: 137,359,404 (GRCm39) S325P probably damaging Het
Fzd9 C T 5: 135,279,714 (GRCm39) R57H probably damaging Het
Gemin6 T G 17: 80,535,178 (GRCm39) V46G probably damaging Het
Gm9949 A G 18: 62,313,587 (GRCm39) probably benign Het
Gnb4 A T 3: 32,643,994 (GRCm39) M188K probably benign Het
Hr G T 14: 70,794,067 (GRCm39) G109V probably damaging Het
Lrp1b A G 2: 40,812,328 (GRCm39) S2426P probably damaging Het
Map2k4 A G 11: 65,610,413 (GRCm39) W88R probably damaging Het
Map4 C T 9: 109,866,851 (GRCm39) probably benign Het
Moxd2 C T 6: 40,859,048 (GRCm39) probably null Het
Mrgprx1 T C 7: 47,671,556 (GRCm39) I64V probably benign Het
Mtrex T C 13: 113,049,715 (GRCm39) S232G probably null Het
Or5p68 A C 7: 107,945,312 (GRCm39) I292S probably damaging Het
Padi2 T C 4: 140,659,382 (GRCm39) F229S probably benign Het
Pappa2 T C 1: 158,666,172 (GRCm39) N1136S probably benign Het
Pcdhb1 A T 18: 37,398,811 (GRCm39) N254I possibly damaging Het
Plcb2 A G 2: 118,548,727 (GRCm39) Y400H probably damaging Het
Plce1 A C 19: 38,608,926 (GRCm39) T412P probably benign Het
Prg4 T C 1: 150,331,519 (GRCm39) probably benign Het
Prkdc A G 16: 15,586,501 (GRCm39) N2510S possibly damaging Het
Psme4 T A 11: 30,741,168 (GRCm39) S107T probably benign Het
Resf1 C A 6: 149,230,611 (GRCm39) S1219* probably null Het
Rint1 G T 5: 23,999,363 (GRCm39) A51S probably benign Het
Rsad1 T A 11: 94,434,515 (GRCm39) R306S probably damaging Het
Sema3c T G 5: 17,922,068 (GRCm39) probably null Het
Sirt3 G A 7: 140,444,928 (GRCm39) T290I probably damaging Het
Speer4f2 C T 5: 17,581,498 (GRCm39) R147W possibly damaging Het
Sppl2c A T 11: 104,078,126 (GRCm39) I309L probably benign Het
Srxn1 G A 2: 151,947,799 (GRCm39) V66M probably damaging Het
St3gal4 C T 9: 34,964,752 (GRCm39) R152H probably damaging Het
Sv2c A T 13: 96,114,591 (GRCm39) F532I probably damaging Het
Tacc1 C A 8: 25,654,431 (GRCm39) K705N probably null Het
Tekt3 G T 11: 62,985,619 (GRCm39) S475I probably damaging Het
Tjap1 T C 17: 46,571,101 (GRCm39) T139A probably damaging Het
Tnfrsf8 T A 4: 145,019,214 (GRCm39) K207M possibly damaging Het
Tnn T C 1: 159,937,831 (GRCm39) T965A probably benign Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Trmt2a A G 16: 18,068,814 (GRCm39) H270R probably damaging Het
Ttc21a T C 9: 119,780,037 (GRCm39) L448P probably benign Het
Ttll4 C A 1: 74,718,480 (GRCm39) N110K probably benign Het
Ttn T A 2: 76,585,168 (GRCm39) I22042F probably damaging Het
Tut7 A G 13: 59,948,471 (GRCm39) Y215H probably damaging Het
Ubr1 A G 2: 120,698,783 (GRCm39) Y1595H possibly damaging Het
Unc45a G A 7: 79,978,787 (GRCm39) P621S probably damaging Het
Xrn2 A T 2: 146,866,633 (GRCm39) probably null 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
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
R6564:Spam1 UTSW 6 24,796,355 (GRCm39) missense possibly damaging 0.90
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'- GGGTTGGAGACTTAGAATACTTTTC -3'
(R):5'- AGCCTTGCTTGTAATCAATCTTTGG -3'

Sequencing Primer
(F):5'- TTTCTGAACATTTTAAATGCAGCTG -3'
(R):5'- TGCTTGTAATCAATCTTTGGTAGAAG -3'
Posted On 2016-10-06