Incidental Mutation 'IGL02175:Spaca9'
ID283084
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Spaca9
Ensembl Gene ENSMUSG00000026809
Gene Namesperm acrosome associated 9
SynonymsMast, 1700026L06Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02175
Quality Score
Status
Chromosome2
Chromosomal Location28692080-28699727 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 28695924 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 43 (I43V)
Ref Sequence ENSEMBL: ENSMUSP00000121846 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028155] [ENSMUST00000074156] [ENSMUST00000102877] [ENSMUST00000113867] [ENSMUST00000113869] [ENSMUST00000113870] [ENSMUST00000124840]
Predicted Effect probably benign
Transcript: ENSMUST00000028155
SMART Domains Protein: ENSMUSP00000028155
Gene: ENSMUSG00000026812

DomainStartEndE-ValueType
Pfam:Hamartin 2 715 2.2e-281 PFAM
SCOP:d1eq1a_ 723 886 4e-11 SMART
low complexity region 974 990 N/A INTRINSIC
low complexity region 1025 1042 N/A INTRINSIC
low complexity region 1099 1117 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000074156
SMART Domains Protein: ENSMUSP00000073789
Gene: ENSMUSG00000026807

DomainStartEndE-ValueType
Pfam:AAA_33 60 186 6.2e-8 PFAM
Pfam:AAA_18 60 191 2.3e-9 PFAM
Pfam:ADK 62 237 5.5e-16 PFAM
Pfam:ADK 273 452 1.6e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000102877
AA Change: I43V

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000099941
Gene: ENSMUSG00000026809
AA Change: I43V

DomainStartEndE-ValueType
Pfam:DUF4561 1 166 1.5e-85 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113867
SMART Domains Protein: ENSMUSP00000109498
Gene: ENSMUSG00000026812

DomainStartEndE-ValueType
Pfam:Hamartin 2 710 7.3e-279 PFAM
SCOP:d1eq1a_ 718 881 6e-11 SMART
low complexity region 969 985 N/A INTRINSIC
low complexity region 1020 1037 N/A INTRINSIC
low complexity region 1094 1112 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000113869
SMART Domains Protein: ENSMUSP00000109500
Gene: ENSMUSG00000026812

DomainStartEndE-ValueType
Pfam:Hamartin 7 716 6e-279 PFAM
SCOP:d1eq1a_ 724 887 4e-11 SMART
low complexity region 975 991 N/A INTRINSIC
low complexity region 1026 1043 N/A INTRINSIC
low complexity region 1100 1118 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000113870
SMART Domains Protein: ENSMUSP00000109501
Gene: ENSMUSG00000026812

DomainStartEndE-ValueType
Pfam:Hamartin 2 715 2.2e-281 PFAM
SCOP:d1eq1a_ 723 886 4e-11 SMART
low complexity region 974 990 N/A INTRINSIC
low complexity region 1025 1042 N/A INTRINSIC
low complexity region 1099 1117 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123794
Predicted Effect probably benign
Transcript: ENSMUST00000124840
AA Change: I43V

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000121846
Gene: ENSMUSG00000026809
AA Change: I43V

DomainStartEndE-ValueType
Pfam:DUF4561 1 167 4.1e-88 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144209
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145014
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc12 A T 8: 86,535,013 probably null Het
Adgrf5 A G 17: 43,451,010 I1199V probably damaging Het
Atm T A 9: 53,480,665 H1808L probably damaging Het
Cadps C T 14: 12,467,092 V942M probably damaging Het
Capns1 T C 7: 30,190,532 D116G probably benign Het
Ccdc110 T G 8: 45,940,623 M124R probably benign Het
Cdh23 T C 10: 60,331,308 N1855S possibly damaging Het
Dstyk T A 1: 132,449,391 L245* probably null Het
Dync2h1 A G 9: 7,111,548 Y289H possibly damaging Het
Efcab6 G A 15: 83,896,100 A1044V probably damaging Het
Egr1 T C 18: 34,863,055 S297P probably benign Het
Ercc6l2 T C 13: 63,869,190 probably benign Het
Frem2 C T 3: 53,655,599 A496T possibly damaging Het
Hook2 T A 8: 84,991,402 W53R probably damaging Het
Med19 T A 2: 84,678,663 probably null Het
Mgrn1 A G 16: 4,920,368 N262S probably benign Het
Nbas T G 12: 13,566,259 probably null Het
Ndc80 A C 17: 71,511,419 M314R probably benign Het
Nelfcd A T 2: 174,420,382 T89S probably benign Het
Nlrp4a A T 7: 26,475,097 E969D probably damaging Het
Ntrk3 A G 7: 78,247,228 V687A probably damaging Het
Oc90 A C 15: 65,883,825 S224R possibly damaging Het
Olfr1241 T C 2: 89,482,282 I284M possibly damaging Het
Plxnb1 C T 9: 109,100,846 H257Y possibly damaging Het
Prpf3 A G 3: 95,834,107 V579A probably damaging Het
Rarres1 T C 3: 67,495,756 N104S probably benign Het
Serpina1d T C 12: 103,765,696 probably null Het
Sik2 G A 9: 50,895,609 Q834* probably null Het
Slc39a10 G A 1: 46,818,128 A696V probably damaging Het
Snx13 T A 12: 35,132,062 N703K possibly damaging Het
Tor1aip2 T C 1: 156,065,006 S353P probably damaging Het
Trmt1l T C 1: 151,448,484 S361P probably benign Het
Trpm2 T C 10: 77,937,907 H558R probably benign Het
Vmn1r75 T C 7: 11,880,847 C127R probably damaging Het
Zfp879 A T 11: 50,837,916 Y84N probably benign Het
Other mutations in Spaca9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02641:Spaca9 APN 2 28695951 nonsense probably null
R0376:Spaca9 UTSW 2 28693660 missense probably benign 0.05
R0452:Spaca9 UTSW 2 28695993 missense probably damaging 1.00
R0496:Spaca9 UTSW 2 28693010 missense probably damaging 0.98
R2020:Spaca9 UTSW 2 28696001 missense probably damaging 0.99
R4244:Spaca9 UTSW 2 28692986 missense probably benign 0.25
R6145:Spaca9 UTSW 2 28693781 missense probably damaging 1.00
R6146:Spaca9 UTSW 2 28693781 missense probably damaging 1.00
R6148:Spaca9 UTSW 2 28693781 missense probably damaging 1.00
R7935:Spaca9 UTSW 2 28693622 critical splice donor site probably null
Posted On2015-04-16