Incidental Mutation 'IGL02392:Gm21970'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm21970
Ensembl Gene ENSMUSG00000093701
Gene Namepredicted gene 21970
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL02392
Quality Score
Chromosomal Location91391721-91419451 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 91414657 bp
Amino Acid Change Serine to Alanine at position 128 (S128A)
Ref Sequence ENSEMBL: ENSMUSP00000023691 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023691] [ENSMUST00000156133]
Predicted Effect possibly damaging
Transcript: ENSMUST00000023691
AA Change: S128A

PolyPhen 2 Score 0.541 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000023691
Gene: ENSMUSG00000022969
AA Change: S128A

signal peptide 1 21 N/A INTRINSIC
FN3 23 100 4.6e-2 SMART
FN3 114 204 7.1e-3 SMART
transmembrane domain 228 250 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137612
Predicted Effect probably benign
Transcript: ENSMUST00000144215
SMART Domains Protein: ENSMUSP00000120485
Gene: ENSMUSG00000022969

Pfam:Tissue_fac 7 65 1.7e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152729
Predicted Effect probably benign
Transcript: ENSMUST00000156133
SMART Domains Protein: ENSMUSP00000120227
Gene: ENSMUSG00000022969

low complexity region 39 48 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000160764
AA Change: S214A
SMART Domains Protein: ENSMUSP00000123997
Gene: ENSMUSG00000093701
AA Change: S214A

FN3 2 92 5.1e1 SMART
FN3 110 187 9.09e0 SMART
FN3 201 291 1.39e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000161517
SMART Domains Protein: ENSMUSP00000125579
Gene: ENSMUSG00000093701

Pfam:Interfer-bind 1 100 7.5e-20 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp2a3 C A 11: 72,975,339 H262N probably benign Het
C2cd6 T C 1: 59,094,838 N8S probably benign Het
Cdh8 G A 8: 99,030,755 T737M probably damaging Het
Celsr3 T C 9: 108,834,721 probably benign Het
Cenph T A 13: 100,772,761 Q46L probably benign Het
Dlg5 A G 14: 24,150,209 C1395R probably damaging Het
Dnah8 C T 17: 30,818,051 probably benign Het
Dolk T C 2: 30,285,728 N102D probably benign Het
Efr3b C T 12: 3,983,391 V139I probably benign Het
Farp2 G A 1: 93,577,650 R368Q probably damaging Het
Fermt3 A T 19: 7,018,815 M4K probably benign Het
Fndc8 A C 11: 82,898,603 T196P probably damaging Het
Galc G A 12: 98,207,413 T630I probably damaging Het
Gpr146 T C 5: 139,392,778 S112P probably damaging Het
Grip2 A G 6: 91,787,295 S51P probably damaging Het
Htra2 G T 6: 83,054,299 T43N possibly damaging Het
Lnpep T C 17: 17,579,183 Y70C possibly damaging Het
Med17 G A 9: 15,277,667 R101* probably null Het
Mtdh A T 15: 34,099,577 N158Y probably damaging Het
Neo1 A T 9: 58,925,811 H550Q possibly damaging Het
Olfr480 A C 7: 108,066,503 F68L probably benign Het
Olfr93 C T 17: 37,151,088 V295I probably benign Het
Pex1 C T 5: 3,605,952 Q260* probably null Het
Pex6 T C 17: 46,723,499 V758A probably damaging Het
Ppil2 T C 16: 17,088,838 T500A probably benign Het
Qsox1 T C 1: 155,812,600 E67G probably damaging Het
Rimbp2 C T 5: 128,771,797 S895N probably benign Het
Rnls A G 19: 33,202,612 V28A possibly damaging Het
Spidr T C 16: 15,889,630 *934W probably null Het
Spta1 A T 1: 174,218,814 M1654L probably damaging Het
Srbd1 C A 17: 85,988,373 V870F probably benign Het
Suco A T 1: 161,834,567 M765K probably benign Het
Taok1 A G 11: 77,549,352 Y610H probably benign Het
Thbs1 A G 2: 118,114,660 N238S probably benign Het
Them7 T A 2: 105,378,875 L180* probably null Het
Trim45 A G 3: 100,925,305 I285V probably benign Het
Trim66 T C 7: 109,460,274 K921R probably benign Het
Ttn A G 2: 76,771,543 S10265P probably damaging Het
Vgll3 A T 16: 65,815,670 Y13F probably damaging Het
Ylpm1 T A 12: 85,014,957 M544K unknown Het
Zmym1 T A 4: 127,048,463 S711C probably damaging Het
Other mutations in Gm21970
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03182:Gm21970 APN 16 91393838 missense possibly damaging 0.92
Posted On2015-04-16