Incidental Mutation 'R0486:Spam1'
ID 42281
Institutional Source Beutler Lab
Gene Symbol Spam1
Ensembl Gene ENSMUSG00000029682
Gene Name sperm adhesion molecule 1
Synonyms Ph-20
MMRRC Submission 038685-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0486 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 24791187-24801047 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 24796394 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 115 (Q115L)
Ref Sequence ENSEMBL: ENSMUSP00000143970 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031693] [ENSMUST00000202331] [ENSMUST00000202569]
AlphaFold P48794
Predicted Effect probably damaging
Transcript: ENSMUST00000031693
AA Change: Q115L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031693
Gene: ENSMUSG00000029682
AA Change: Q115L

DomainStartEndE-ValueType
Pfam:Glyco_hydro_56 42 373 4.5e-136 PFAM
Blast:EGF 376 439 5e-13 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000202331
AA Change: Q115L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000143944
Gene: ENSMUSG00000029682
AA Change: Q115L

DomainStartEndE-ValueType
Pfam:Glyco_hydro_56 42 373 4.5e-136 PFAM
Blast:EGF 376 439 5e-13 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000202569
AA Change: Q115L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000143970
Gene: ENSMUSG00000029682
AA Change: Q115L

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
Meta Mutation Damage Score 0.5773 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.1%
  • 20x: 91.9%
Validation Efficiency 98% (65/66)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aco1 T C 4: 40,177,783 (GRCm39) L268P probably damaging Het
Adam22 A T 5: 8,380,048 (GRCm39) H83Q probably damaging Het
Anln T C 9: 22,264,122 (GRCm39) D886G probably benign Het
Arhgef11 T A 3: 87,596,159 (GRCm39) probably null Het
Ark2c T A 18: 77,571,950 (GRCm39) Q91L probably damaging Het
Arl8b A T 6: 108,792,287 (GRCm39) D116V possibly damaging Het
BC051665 C T 13: 60,931,859 (GRCm39) G180D probably damaging Het
Bloc1s2 A G 19: 44,131,589 (GRCm39) probably benign Het
Ccdc185 T G 1: 182,575,424 (GRCm39) S422R possibly damaging Het
Cd101 T C 3: 100,915,408 (GRCm39) K720E possibly damaging Het
Cdh23 C A 10: 60,222,725 (GRCm39) A1236S probably damaging Het
Chd1 G A 17: 15,954,604 (GRCm39) A491T probably damaging Het
Chdh T C 14: 29,754,815 (GRCm39) V275A possibly damaging Het
Cmtm2b A T 8: 105,057,047 (GRCm39) I136F probably damaging Het
Cps1 T C 1: 67,204,551 (GRCm39) V457A probably damaging Het
Cwf19l1 A G 19: 44,103,129 (GRCm39) V362A probably benign Het
Cyp4f17 T C 17: 32,743,797 (GRCm39) probably benign Het
Cyp4f18 C A 8: 72,749,861 (GRCm39) V263L probably benign Het
Dclre1a A G 19: 56,529,922 (GRCm39) probably benign Het
Dpp6 T C 5: 27,866,640 (GRCm39) I446T probably benign Het
F11r T C 1: 171,288,156 (GRCm39) W61R probably damaging Het
Fam120b C T 17: 15,646,550 (GRCm39) probably benign Het
Fastkd2 T C 1: 63,791,499 (GRCm39) V669A possibly damaging Het
Foxg1 T C 12: 49,431,314 (GRCm39) probably benign Het
Foxo3 A G 10: 42,073,477 (GRCm39) Y347H probably damaging Het
G3bp1 T C 11: 55,389,452 (GRCm39) F383L probably damaging Het
Gbp7 C A 3: 142,252,078 (GRCm39) probably benign Het
Glipr1 T C 10: 111,832,754 (GRCm39) probably benign Het
Gm11555 A G 11: 99,540,986 (GRCm39) S8P unknown Het
H6pd G A 4: 150,067,393 (GRCm39) probably benign Het
Haus8 C T 8: 71,709,182 (GRCm39) M75I probably benign Het
Haus8 C A 8: 71,709,181 (GRCm39) G76W probably damaging Het
Kcnj13 C A 1: 87,314,752 (GRCm39) V157L probably damaging Het
Kcnt2 T A 1: 140,437,218 (GRCm39) C550* probably null Het
Kdm5d A G Y: 927,107 (GRCm39) N615S probably damaging Het
Naip2 A C 13: 100,298,290 (GRCm39) I582S probably benign Het
Ncapd2 G A 6: 125,160,990 (GRCm39) R292* probably null Het
Ngef T A 1: 87,406,848 (GRCm39) N640I probably damaging Het
Nhlrc3 T C 3: 53,359,858 (GRCm39) Y335C probably damaging Het
Nipbl A T 15: 8,368,354 (GRCm39) probably benign Het
Nop2 A G 6: 125,117,636 (GRCm39) K434R probably null Het
Nr4a3 T C 4: 48,056,525 (GRCm39) probably benign Het
Or8b35 A G 9: 37,903,998 (GRCm39) N70S possibly damaging Het
Piezo2 A C 18: 63,162,132 (GRCm39) I2233R probably damaging Het
Prag1 A T 8: 36,613,787 (GRCm39) E1113V probably damaging Het
Prpsap2 A G 11: 61,631,826 (GRCm39) I177T possibly damaging Het
Psmd1 T A 1: 86,022,012 (GRCm39) N611K probably damaging Het
Ptpn7 C T 1: 135,065,096 (GRCm39) T168I probably damaging Het
Pus1 A T 5: 110,927,596 (GRCm39) V53E probably damaging Het
Rgs22 A G 15: 36,093,028 (GRCm39) M415T probably damaging Het
Rnf17 C T 14: 56,751,632 (GRCm39) T1490M probably benign Het
Rnf20 C A 4: 49,645,907 (GRCm39) L332I possibly damaging Het
Snrnp40 C G 4: 130,271,836 (GRCm39) probably null Het
Syce1l A T 8: 114,381,395 (GRCm39) probably null Het
Synj1 T C 16: 90,735,151 (GRCm39) probably benign Het
Tas2r126 A T 6: 42,412,225 (GRCm39) I253F probably benign Het
Tecpr2 G A 12: 110,862,803 (GRCm39) V72I probably benign Het
Tfap2a G T 13: 40,882,170 (GRCm39) P45Q probably damaging Het
Trip12 C A 1: 84,738,805 (GRCm39) G714* probably null Het
Wdr31 A G 4: 62,372,130 (GRCm39) S330P probably damaging Het
Wdr64 T C 1: 175,622,769 (GRCm39) probably benign Het
Yes1 T A 5: 32,812,926 (GRCm39) Y343* 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
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
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'- TGGAATGTCCCAACTGAACGTTGTG -3'
(R):5'- GCACTGCCCATCATACTTAGGGTC -3'

Sequencing Primer
(F):5'- CCAACTGAACGTTGTGTAGGAAATG -3'
(R):5'- ATAACCCCATAGCTGGTTTGG -3'
Posted On 2013-05-23