Incidental Mutation 'IGL02057:Gm10696'
ID185253
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm10696
Ensembl Gene ENSMUSG00000074424
Gene Namepredicted gene 10696
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.881) question?
Stock #IGL02057
Quality Score
Status
Chromosome3
Chromosomal Location94174412-94178193 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 94176355 bp
ZygosityHeterozygous
Amino Acid Change Serine to Cysteine at position 50 (S50C)
Ref Sequence ENSEMBL: ENSMUSP00000132199 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000161475] [ENSMUST00000167916]
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159115
Predicted Effect probably damaging
Transcript: ENSMUST00000161475
AA Change: S50C

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000124942
Gene: ENSMUSG00000074424
AA Change: S50C

DomainStartEndE-ValueType
MATH 24 130 4.7e-10 SMART
BTB 188 287 1.53e-25 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000167916
AA Change: S50C

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000132199
Gene: ENSMUSG00000074424
AA Change: S50C

DomainStartEndE-ValueType
MATH 24 130 4.7e-10 SMART
BTB 188 287 1.53e-25 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankk1 T C 9: 49,416,772 N369S probably damaging Het
Atp13a3 C T 16: 30,332,364 A1043T probably benign Het
AY358078 G A 14: 51,820,305 V287I unknown Het
Cemip T C 7: 83,987,453 E324G probably damaging Het
Ckap5 T A 2: 91,600,707 D1487E possibly damaging Het
Dscam G A 16: 96,716,073 Q879* probably null Het
Eci2 A G 13: 34,990,776 L50P probably damaging Het
Erp44 A T 4: 48,236,964 H65Q probably benign Het
Fahd1 A T 17: 24,849,596 I169N probably damaging Het
Galm T C 17: 80,181,567 I214T probably benign Het
Gipc3 T A 10: 81,343,134 N42Y probably damaging Het
H2-Eb2 A T 17: 34,335,767 probably benign Het
Itgb3 A T 11: 104,632,348 I113F probably damaging Het
Lef1 T G 3: 131,200,402 Y342* probably null Het
Lilrb4a G A 10: 51,492,007 D168N possibly damaging Het
Olfr1023 T A 2: 85,886,931 F44I probably benign Het
Olfr623 T A 7: 103,660,653 Y199F probably damaging Het
Orc1 T G 4: 108,588,729 S15A possibly damaging Het
Pdk2 C T 11: 95,028,498 G317D probably benign Het
Rab37 T C 11: 115,160,717 S217P probably benign Het
Rere C T 4: 150,614,832 probably benign Het
Scn11a C T 9: 119,765,470 G1286S probably damaging Het
Sirt1 A G 10: 63,325,203 S357P probably damaging Het
Smpdl3b T A 4: 132,733,713 E351V probably benign Het
Sox6 C A 7: 115,550,075 G355W probably damaging Het
Srpk2 G T 5: 23,518,707 A502E probably damaging Het
Trim67 G A 8: 124,823,130 V500I probably benign Het
Ube2v2 A G 16: 15,577,058 V83A probably benign Het
Usp43 A T 11: 67,856,287 S865T probably benign Het
Vdac1 G A 11: 52,376,544 probably null Het
Vmn2r69 T A 7: 85,411,782 H198L possibly damaging Het
Vmn2r93 T C 17: 18,325,770 C635R probably damaging Het
Other mutations in Gm10696
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01744:Gm10696 APN 3 94176237 missense probably damaging 1.00
R1983:Gm10696 UTSW 3 94176294 missense possibly damaging 0.89
R2102:Gm10696 UTSW 3 94175666 nonsense probably null
R2110:Gm10696 UTSW 3 94175527 missense probably damaging 0.99
R2172:Gm10696 UTSW 3 94176298 missense possibly damaging 0.68
R2358:Gm10696 UTSW 3 94175547 missense possibly damaging 0.81
R2358:Gm10696 UTSW 3 94175548 missense possibly damaging 0.61
R4534:Gm10696 UTSW 3 94176450 missense probably benign 0.39
R4939:Gm10696 UTSW 3 94176233 nonsense probably null
R4961:Gm10696 UTSW 3 94175534 nonsense probably null
R4993:Gm10696 UTSW 3 94176316 missense probably damaging 1.00
R7154:Gm10696 UTSW 3 94176219 missense probably benign 0.17
R7218:Gm10696 UTSW 3 94175549 missense possibly damaging 0.91
R7256:Gm10696 UTSW 3 94176360 missense probably benign 0.01
R7464:Gm10696 UTSW 3 94176104 missense probably benign 0.08
R7473:Gm10696 UTSW 3 94176202 nonsense probably null
Posted On2014-05-07