Incidental Mutation 'IGL01987:Smok2a'
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ID181935
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Smok2a
Ensembl Gene ENSMUSG00000073458
Gene Namesperm motility kinase 2A
SynonymsSmok2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.077) question?
Stock #IGL01987
Quality Score
Status
Chromosome17
Chromosomal Location13221188-13227658 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 13226490 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Histidine at position 318 (R318H)
Ref Sequence ENSEMBL: ENSMUSP00000094432 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080647] [ENSMUST00000162940]
Predicted Effect probably benign
Transcript: ENSMUST00000080647
AA Change: R318H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000094432
Gene: ENSMUSG00000073458
AA Change: R318H

DomainStartEndE-ValueType
S_TKc 28 276 2.02e-92 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000162940
SMART Domains Protein: ENSMUSP00000124967
Gene: ENSMUSG00000073457

DomainStartEndE-ValueType
S_TKc 8 256 3.13e-98 SMART
low complexity region 393 405 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932411N23Rik C T X: 126,814,475 E336K possibly damaging Het
Abca17 A G 17: 24,346,228 F77L probably benign Het
Abca8a A G 11: 110,074,155 F439L possibly damaging Het
Abcb5 A T 12: 118,927,358 V468D probably damaging Het
Adgrb3 A T 1: 25,101,431 probably null Het
Ankrd28 T C 14: 31,778,974 D50G probably damaging Het
Cacna1b A T 2: 24,697,567 probably null Het
Capn9 A G 8: 124,576,226 S28G probably benign Het
Cdk5rap2 A G 4: 70,302,082 probably null Het
E2f5 T C 3: 14,587,303 probably benign Het
Fam135b A G 15: 71,462,115 Y1077H probably benign Het
Fap A G 2: 62,528,676 Y428H probably damaging Het
Fasn A G 11: 120,818,073 S595P probably damaging Het
Flnb T C 14: 7,922,748 probably null Het
Fzd3 A T 14: 65,239,898 V69E probably damaging Het
Gcdh A T 8: 84,893,481 probably benign Het
Gm996 T C 2: 25,577,958 E647G possibly damaging Het
Ido1 A G 8: 24,593,143 Y89H probably benign Het
Itga2 G A 13: 114,847,946 Q1010* probably null Het
Man1a2 T C 3: 100,644,557 Y280C probably damaging Het
Mgat4d T C 8: 83,368,102 I256T probably damaging Het
Mmrn1 A G 6: 60,944,573 K5E probably benign Het
Ncapd2 A G 6: 125,185,841 probably benign Het
Olfr520 A T 7: 99,735,271 I43F probably damaging Het
Olfr830 A T 9: 18,875,707 I127L probably benign Het
Pcnx3 T C 19: 5,677,479 D644G probably damaging Het
Pole T C 5: 110,337,232 V2280A probably benign Het
Ptprf T A 4: 118,277,370 M24L probably benign Het
Sbno1 T C 5: 124,404,219 N337S probably damaging Het
Serpinc1 T A 1: 160,993,407 F141L probably damaging Het
Shroom3 C A 5: 92,942,189 R933S probably damaging Het
Slc24a2 G A 4: 87,227,796 P7L probably benign Het
Slc25a32 G A 15: 39,097,607 T227I probably damaging Het
Slc7a1 A G 5: 148,337,192 F396L possibly damaging Het
Sntg2 A G 12: 30,312,570 V59A probably damaging Het
Sspo A G 6: 48,477,624 probably null Het
Tnfrsf1a G A 6: 125,356,864 V27I probably damaging Het
Tnpo3 T C 6: 29,560,201 T648A probably benign Het
Tpbg A G 9: 85,845,199 Y407C probably damaging Het
Wbp2nl A T 15: 82,308,561 M149L probably benign Het
Yif1a T A 19: 5,091,597 M181K probably benign Het
Zkscan8 A G 13: 21,526,559 L127S probably damaging Het
Other mutations in Smok2a
AlleleSourceChrCoordTypePredicted EffectPPH Score
R5809:Smok2a UTSW 17 13226978 missense possibly damaging 0.93
R6046:Smok2a UTSW 17 13226134 missense probably benign 0.34
R6444:Smok2a UTSW 17 13225613 missense probably benign 0.01
R6464:Smok2a UTSW 17 13226430 missense probably damaging 1.00
R6896:Smok2a UTSW 17 13225871 missense probably benign 0.03
R6912:Smok2a UTSW 17 13225656 missense probably benign 0.08
R7027:Smok2a UTSW 17 13225779 missense probably damaging 1.00
R7445:Smok2a UTSW 17 13226639 missense possibly damaging 0.76
R7793:Smok2a UTSW 17 13225626 missense possibly damaging 0.59
R7935:Smok2a UTSW 17 13225712 missense probably damaging 0.97
R8274:Smok2a UTSW 17 13226894 missense probably benign 0.01
Posted On2014-05-07