Incidental Mutation 'IGL03338:Sval2'
ID417088
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sval2
Ensembl Gene ENSMUSG00000014104
Gene Nameseminal vesicle antigen-like 2
SynonymsSLP-M
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.087) question?
Stock #IGL03338
Quality Score
Status
Chromosome6
Chromosomal Location41852989-41864413 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 41864247 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Methionine at position 81 (I81M)
Ref Sequence ENSEMBL: ENSMUSP00000113417 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014248] [ENSMUST00000119995] [ENSMUST00000120605]
Predicted Effect probably damaging
Transcript: ENSMUST00000014248
AA Change: I120M

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000014248
Gene: ENSMUSG00000014104
AA Change: I120M

DomainStartEndE-ValueType
Pfam:SVA 3 124 6.8e-53 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000119995
AA Change: I100M

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000113701
Gene: ENSMUSG00000014104
AA Change: I100M

DomainStartEndE-ValueType
Pfam:SVA 9 104 5.4e-39 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000120605
AA Change: I81M

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000113417
Gene: ENSMUSG00000014104
AA Change: I81M

DomainStartEndE-ValueType
Pfam:SVA 1 85 1.4e-35 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143093
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a G A 5: 8,694,153 V260M probably damaging Het
Accsl T A 2: 93,855,747 H575L probably benign Het
Armc3 A T 2: 19,248,701 I218F possibly damaging Het
Bora C A 14: 99,072,742 N502K probably damaging Het
Brd4 T A 17: 32,213,072 D606V probably damaging Het
Ccdc190 T A 1: 169,929,975 M1K probably null Het
Ccl25 T C 8: 4,349,898 probably benign Het
Cep78 G T 19: 15,959,623 T573K probably damaging Het
Ces1d C A 8: 93,169,718 probably null Het
Cntn4 C T 6: 106,655,589 H525Y probably damaging Het
D630039A03Rik T C 4: 57,910,509 E101G probably benign Het
Dnah2 A G 11: 69,496,577 V941A probably benign Het
Exoc6b A G 6: 84,844,130 I559T probably damaging Het
Fmr1 T C X: 68,688,336 probably null Het
Ghr A T 15: 3,347,542 C66S probably damaging Het
Gm13078 T C 4: 143,726,742 I140T probably benign Het
Gm13101 T C 4: 143,965,841 I197V probably benign Het
Gm13101 T A 4: 143,966,038 Q131L probably benign Het
Hook1 C A 4: 95,998,692 probably benign Het
Igsf1 T C X: 49,787,499 T73A probably benign Het
Ipo8 T C 6: 148,800,257 K451R probably benign Het
Irs1 A G 1: 82,288,401 V698A probably benign Het
Kat2a T C 11: 100,711,475 D151G probably benign Het
Lyrm1 A T 7: 119,914,246 Q78L probably benign Het
Madd C T 2: 91,162,162 G1012E possibly damaging Het
Mboat1 T A 13: 30,136,759 D31E probably benign Het
Myh8 C A 11: 67,298,346 A1116D probably damaging Het
Nop2 G A 6: 125,139,732 probably null Het
Notch1 A G 2: 26,459,959 S2390P probably benign Het
Olfr1122 T G 2: 87,388,126 N140K probably benign Het
Olfr619 T A 7: 103,604,408 C251* probably null Het
Olfr792 A G 10: 129,541,056 D173G probably damaging Het
Pigg T C 5: 108,319,950 S272P probably damaging Het
Plg A G 17: 12,419,072 Y795C probably damaging Het
Polr3e A G 7: 120,937,620 K335R probably benign Het
Pramef12 T A 4: 144,394,827 Y209F probably benign Het
Prdm4 A T 10: 85,907,821 M190K possibly damaging Het
Prex2 T A 1: 11,140,265 F597L probably benign Het
Ranbp3l A G 15: 9,060,859 E403G probably damaging Het
Rgmb C T 17: 15,807,303 A385T possibly damaging Het
Scn4a T A 11: 106,320,845 I1449F probably damaging Het
Slc17a9 T C 2: 180,740,518 probably benign Het
Slc26a2 T C 18: 61,198,902 I486V probably damaging Het
Sntn A T 14: 13,678,991 D55V probably damaging Het
Snx25 T A 8: 46,045,210 R595S probably benign Het
Spag11b C T 8: 19,141,410 T33I probably damaging Het
Tab2 A G 10: 7,919,275 V481A probably damaging Het
Zfp867 G A 11: 59,464,177 Q109* probably null Het
Zfp935 T C 13: 62,454,433 T318A probably benign Het
Other mutations in Sval2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02793:Sval2 APN 6 41861861 missense probably benign 0.00
R1224:Sval2 UTSW 6 41864254 missense probably benign 0.02
R1912:Sval2 UTSW 6 41864320 makesense probably null
R3968:Sval2 UTSW 6 41861927 missense probably damaging 1.00
R4238:Sval2 UTSW 6 41860349 missense probably damaging 1.00
R5138:Sval2 UTSW 6 41861945 missense probably damaging 0.99
R8024:Sval2 UTSW 6 41860364 missense probably damaging 0.97
Posted On2016-08-02