Incidental Mutation 'R0830:Stbd1'
ID 77480
Institutional Source Beutler Lab
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 # R0830 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 92750910-92754438 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 92752989 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Cysteine at position 160 (S160C)
Ref Sequence ENSEMBL: ENSMUSP00000054322 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050952] [ENSMUST00000060930] [ENSMUST00000200941] [ENSMUST00000202332]
AlphaFold Q8C7E7
Predicted Effect probably benign
Transcript: ENSMUST00000050952
AA Change: S160C

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000054322
Gene: ENSMUSG00000047963
AA Change: S160C

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 probably benign
Transcript: ENSMUST00000060930
SMART Domains Protein: ENSMUSP00000063050
Gene: ENSMUSG00000050050

DomainStartEndE-ValueType
Pfam:CCDC158 1 1109 N/A PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136004
Predicted Effect probably benign
Transcript: ENSMUST00000200941
SMART Domains Protein: ENSMUSP00000144305
Gene: ENSMUSG00000047963

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

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
low complexity region 36 68 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.0%
  • 20x: 90.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700056E22Rik C T 1: 183,765,624 (GRCm39) R145H probably damaging Het
Adam26a C T 8: 44,021,439 (GRCm39) V684I probably benign Het
Alk T C 17: 72,910,195 (GRCm39) I170M probably benign Het
Apc2 T C 10: 80,151,239 (GRCm39) Y2069H probably damaging Het
Aspm A G 1: 139,401,992 (GRCm39) T1219A probably damaging Het
Bnip1 T C 17: 27,008,679 (GRCm39) S94P probably benign Het
Cftr A G 6: 18,270,224 (GRCm39) I805V probably benign Het
Col25a1 T A 3: 130,378,375 (GRCm39) D609E probably damaging Het
Cplane1 T A 15: 8,276,669 (GRCm39) V2771E unknown Het
Cyp2g1 A G 7: 26,514,216 (GRCm39) K274R probably benign Het
D5Ertd579e G A 5: 36,771,101 (GRCm39) T1098I probably damaging Het
Ddx39a T A 8: 84,446,452 (GRCm39) C74S possibly damaging Het
E2f3 C T 13: 30,169,543 (GRCm39) A37T probably benign Het
Emilin2 A G 17: 71,580,815 (GRCm39) M637T probably benign Het
Exosc7 T C 9: 122,948,358 (GRCm39) L93P probably benign Het
F2 T C 2: 91,460,545 (GRCm39) E316G probably benign Het
Fat4 A C 3: 39,053,258 (GRCm39) Q4084P probably benign Het
Flywch1 T C 17: 23,981,344 (GRCm39) K160E probably benign Het
Foxi2 A G 7: 135,013,459 (GRCm39) T230A probably benign Het
Fthl17a A G X: 84,313,679 (GRCm39) N154S possibly damaging Het
Hykk G A 9: 54,844,601 (GRCm39) R222Q probably damaging Het
Il18rap T A 1: 40,582,150 (GRCm39) V357E probably damaging Het
Ing4 A G 6: 125,020,923 (GRCm39) E15G probably damaging Het
Irak1 T C X: 73,060,189 (GRCm39) D679G probably damaging Het
Itga1 T C 13: 115,143,568 (GRCm39) E321G probably benign Het
Nudt1 T A 5: 140,321,076 (GRCm39) probably null Het
Nup58 A G 14: 60,480,931 (GRCm39) F138S probably damaging Het
Or10al6 A T 17: 38,082,804 (GRCm39) M87L probably damaging Het
Or2a5 G T 6: 42,873,532 (GRCm39) W49L probably benign Het
Pllp T C 8: 95,406,103 (GRCm39) Y60C probably damaging Het
Pnpla7 T C 2: 24,887,267 (GRCm39) V37A probably damaging Het
Poglut3 T G 9: 53,302,011 (GRCm39) L32R probably damaging Het
Psme4 A G 11: 30,757,797 (GRCm39) H310R possibly damaging Het
Rasl10b G A 11: 83,308,665 (GRCm39) probably null Het
Sash1 C T 10: 8,605,673 (GRCm39) V906M probably benign Het
Scn1a A T 2: 66,130,128 (GRCm39) I1212K probably damaging Het
Tex29 T C 8: 11,904,157 (GRCm39) V99A probably benign Het
Tg A T 15: 66,596,993 (GRCm39) N79I probably damaging Het
Tie1 T C 4: 118,339,860 (GRCm39) D389G probably damaging Het
Vmn1r178 A G 7: 23,593,452 (GRCm39) T167A possibly damaging Het
Xkr4 C T 1: 3,740,968 (GRCm39) G202S possibly damaging Het
Other mutations in Stbd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02718:Stbd1 APN 5 92,751,077 (GRCm39) missense possibly damaging 0.72
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
Predicted Primers PCR Primer
(F):5'- ATCTTGGTAACCTGCCGGAAGCAC -3'
(R):5'- TCCAGTCACTGCAATGAACTGCAC -3'

Sequencing Primer
(F):5'- TGCCAGAGAGTTTGTTCCTG -3'
(R):5'- AGGTTTCAGAGATGCCACTTTC -3'
Posted On 2013-10-16