Incidental Mutation 'IGL02718:Stbd1'
ID 304872
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Stbd1
Ensembl Gene ENSMUSG00000047963
Gene Name starch binding domain 1
Synonyms D5Ertd593e, D530019K15Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02718
Quality Score
Status
Chromosome 5
Chromosomal Location 92750910-92754438 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 92751077 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 37 (E37G)
Ref Sequence ENSEMBL: ENSMUSP00000054322 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050952] [ENSMUST00000200941] [ENSMUST00000202332]
AlphaFold Q8C7E7
Predicted Effect possibly damaging
Transcript: ENSMUST00000050952
AA Change: E37G

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000054322
Gene: ENSMUSG00000047963
AA Change: E37G

DomainStartEndE-ValueType
transmembrane domain 2 24 N/A INTRINSIC
low complexity region 36 68 N/A INTRINSIC
low complexity region 195 206 N/A INTRINSIC
CBM_2 243 334 2.81e-23 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136004
Predicted Effect unknown
Transcript: ENSMUST00000200941
AA Change: E37G
SMART Domains Protein: ENSMUSP00000144305
Gene: ENSMUSG00000047963
AA Change: E37G

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
low complexity region 36 68 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000202332
AA Change: E37G
SMART Domains Protein: ENSMUSP00000144467
Gene: ENSMUSG00000047963
AA Change: E37G

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
low complexity region 36 68 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2200002J24Rik A G 7: 30,399,329 (GRCm39) D41G probably damaging Het
2210408I21Rik T A 13: 77,322,991 (GRCm39) Y7N probably damaging Het
Atf1 C A 15: 100,152,100 (GRCm39) Q151K probably damaging Het
Brdt T C 5: 107,497,934 (GRCm39) probably benign Het
Cep295 T C 9: 15,237,049 (GRCm39) probably null Het
Ctnnd2 A G 15: 31,027,762 (GRCm39) S1229G probably damaging Het
Dcaf15 T A 8: 84,825,005 (GRCm39) I476L possibly damaging Het
Dlec1 A G 9: 118,966,354 (GRCm39) I1108V probably benign Het
Dnah9 T A 11: 65,777,466 (GRCm39) H3694L probably damaging Het
Dock10 A T 1: 80,501,535 (GRCm39) D1838E probably benign Het
Dusp12 A T 1: 170,708,226 (GRCm39) Y164N probably damaging Het
Ephx1 A G 1: 180,827,351 (GRCm39) F101L probably damaging Het
Fbn1 C A 2: 125,211,806 (GRCm39) C864F probably damaging Het
Fbxw24 T C 9: 109,453,858 (GRCm39) E96G possibly damaging Het
Glt1d1 C A 5: 127,727,763 (GRCm39) F78L probably damaging Het
Gm9602 A T 14: 15,932,620 (GRCm39) R21* probably null Het
Grip1 T A 10: 119,911,420 (GRCm39) *713K probably null Het
Hecw1 T C 13: 14,481,520 (GRCm39) probably null Het
Il31ra G A 13: 112,666,903 (GRCm39) R392* probably null Het
L3hypdh T G 12: 72,131,630 (GRCm39) S101R probably damaging Het
Lpar5 T A 6: 125,059,207 (GRCm39) D309E probably damaging Het
Masp1 T C 16: 23,295,043 (GRCm39) Y406C probably damaging Het
Mpdz T C 4: 81,303,439 (GRCm39) I166M probably damaging Het
Nbea A T 3: 55,539,483 (GRCm39) Y2759* probably null Het
Ncf1 A T 5: 134,256,302 (GRCm39) probably null Het
Nek5 T G 8: 22,587,479 (GRCm39) R314S probably benign Het
Nifk A C 1: 118,255,362 (GRCm39) N38T probably damaging Het
Obscn C T 11: 58,968,684 (GRCm39) V2772M probably damaging Het
Or10g9 A T 9: 39,912,182 (GRCm39) Y114N probably damaging Het
Or10z1 G T 1: 174,078,273 (GRCm39) Y73* probably null Het
Or2b28 T C 13: 21,531,554 (GRCm39) L152P probably damaging Het
Or2d3 A T 7: 106,490,536 (GRCm39) M260K probably damaging Het
Or52r1c C A 7: 102,734,790 (GRCm39) L22I probably benign Het
Or5k17 T C 16: 58,746,459 (GRCm39) I158M possibly damaging Het
Pbxip1 A G 3: 89,355,311 (GRCm39) E610G probably damaging Het
Pfas G T 11: 68,890,971 (GRCm39) probably benign Het
Plk4 T C 3: 40,769,456 (GRCm39) S102P probably damaging Het
Ptprz1 C T 6: 23,001,348 (GRCm39) T1146I possibly damaging Het
Pum2 T A 12: 8,783,344 (GRCm39) S598T probably benign Het
Ric1 T A 19: 29,510,640 (GRCm39) W74R probably damaging Het
Riok3 C A 18: 12,286,053 (GRCm39) S427* probably null Het
Ros1 A T 10: 51,994,328 (GRCm39) D1317E probably damaging Het
Sfmbt2 A G 2: 10,406,842 (GRCm39) D47G possibly damaging Het
Slc12a1 C T 2: 125,002,999 (GRCm39) R177* probably null Het
Snai3 C A 8: 123,182,861 (GRCm39) probably null Het
Snx19 A G 9: 30,343,556 (GRCm39) N572S possibly damaging Het
Soat1 A T 1: 156,268,999 (GRCm39) S151T probably benign Het
Spmip4 G T 6: 50,561,367 (GRCm39) T184K probably damaging Het
Syt10 A G 15: 89,698,282 (GRCm39) I354T probably damaging Het
Trip11 A C 12: 101,852,284 (GRCm39) S593R probably benign Het
Ubr1 T C 2: 120,745,364 (GRCm39) E908G probably damaging Het
Yy1 T C 12: 108,781,405 (GRCm39) F357L probably damaging Het
Other mutations in Stbd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0830:Stbd1 UTSW 5 92,752,989 (GRCm39) missense probably benign 0.00
R1168:Stbd1 UTSW 5 92,752,795 (GRCm39) missense probably benign 0.19
R2936:Stbd1 UTSW 5 92,751,119 (GRCm39) missense possibly damaging 0.93
R4107:Stbd1 UTSW 5 92,753,139 (GRCm39) missense probably benign 0.00
R5849:Stbd1 UTSW 5 92,752,854 (GRCm39) missense probably benign 0.00
R7011:Stbd1 UTSW 5 92,752,977 (GRCm39) nonsense probably null
R7747:Stbd1 UTSW 5 92,753,416 (GRCm39) missense probably damaging 1.00
R9260:Stbd1 UTSW 5 92,753,456 (GRCm39) missense probably damaging 1.00
R9356:Stbd1 UTSW 5 92,753,277 (GRCm39) missense possibly damaging 0.46
Z1177:Stbd1 UTSW 5 92,750,914 (GRCm39) unclassified probably benign
Posted On 2015-04-16