Incidental Mutation 'IGL01764:BC025920'
ID153643
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol BC025920
Ensembl Gene ENSMUSG00000074862
Gene NamecDNA sequence BC025920
Synonyms
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL01764
Quality Score
Status
Chromosome10
Chromosomal Location81606270-81620703 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 81609150 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Asparagine at position 36 (Y36N)
Ref Sequence ENSEMBL: ENSMUSP00000113598 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099442] [ENSMUST00000119492] [ENSMUST00000119753] [ENSMUST00000121138]
Predicted Effect probably damaging
Transcript: ENSMUST00000099442
AA Change: Y36N

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000097041
Gene: ENSMUSG00000074862
AA Change: Y36N

DomainStartEndE-ValueType
ZnF_C2H2 8 30 1.41e2 SMART
ZnF_C2H2 36 58 5.38e-6 SMART
ZnF_C2H2 64 86 2.29e0 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000119492
AA Change: Y36N

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000113938
Gene: ENSMUSG00000074862
AA Change: Y36N

DomainStartEndE-ValueType
ZnF_C2H2 8 30 1.41e2 SMART
ZnF_C2H2 36 58 5.38e-6 SMART
ZnF_C2H2 64 86 2.29e0 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000119753
AA Change: Y36N

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000113471
Gene: ENSMUSG00000074862
AA Change: Y36N

DomainStartEndE-ValueType
ZnF_C2H2 8 30 1.41e2 SMART
ZnF_C2H2 36 58 5.38e-6 SMART
ZnF_C2H2 64 86 2.29e0 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000121138
AA Change: Y36N

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000113598
Gene: ENSMUSG00000074862
AA Change: Y36N

DomainStartEndE-ValueType
ZnF_C2H2 8 30 1.41e2 SMART
ZnF_C2H2 36 58 5.38e-6 SMART
ZnF_C2H2 64 86 2.29e0 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126940
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180482
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700113H08Rik A T 10: 87,074,046 M1L probably benign Het
BC030867 T C 11: 102,255,596 C233R probably benign Het
Cdk11b G A 4: 155,628,803 R112H possibly damaging Het
Ctu2 G A 8: 122,479,422 probably benign Het
Ddx56 A C 11: 6,265,692 V219G probably null Het
Dnah14 T C 1: 181,744,777 V2891A probably benign Het
Fbn2 G T 18: 58,045,351 N1938K probably damaging Het
Fbxw20 A G 9: 109,223,359 M302T possibly damaging Het
Fhdc1 G A 3: 84,444,735 A1061V possibly damaging Het
Gm10639 A T 9: 78,304,507 probably null Het
Gpat2 T C 2: 127,427,536 I36T probably benign Het
Hmcn2 A G 2: 31,405,630 E2617G possibly damaging Het
Krba1 C T 6: 48,415,836 R895W probably benign Het
Large2 G T 2: 92,367,186 probably benign Het
Lrp1b C T 2: 40,697,442 V165M unknown Het
Mapk1 T A 16: 16,983,733 M36K possibly damaging Het
Nf1 A G 11: 79,384,187 T25A probably benign Het
Nrxn3 G A 12: 90,204,750 V1316I possibly damaging Het
Pik3r4 G A 9: 105,685,122 probably benign Het
Plekhh1 G T 12: 79,054,905 A250S probably benign Het
Polr3g G A 13: 81,682,119 T145M possibly damaging Het
Prss32 A G 17: 23,856,111 D145G probably damaging Het
Rab11fip3 T C 17: 26,068,693 K162R probably benign Het
Spag7 A G 11: 70,664,107 probably benign Het
Spata2l T A 8: 123,234,175 Q125L probably benign Het
Tlr9 G T 9: 106,225,805 C765F probably damaging Het
Trip11 A T 12: 101,884,631 I773N probably damaging Het
Vcan T G 13: 89,725,388 T116P probably damaging Het
Vmn2r22 C T 6: 123,650,420 probably null Het
Yme1l1 T C 2: 23,162,544 I70T probably benign Het
Zfp938 T A 10: 82,227,790 probably benign Het
Other mutations in BC025920
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03094:BC025920 APN 10 81609072 missense probably benign 0.00
R6412:BC025920 UTSW 10 81609361 missense probably benign 0.01
R6683:BC025920 UTSW 10 81609301 missense probably damaging 1.00
Posted On2014-02-04