Incidental Mutation 'IGL03094:BC025920'
ID 418498
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol BC025920
Ensembl Gene ENSMUSG00000074862
Gene Name cDNA sequence BC025920
Synonyms
Accession Numbers
Essential gene? Not available question?
Stock # IGL03094
Quality Score
Status
Chromosome 10
Chromosomal Location 81442142-81445670 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 81444906 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 10 (R10S)
Ref Sequence ENSEMBL: ENSMUSP00000113598 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099442] [ENSMUST00000119492] [ENSMUST00000119753] [ENSMUST00000121138]
AlphaFold Q3US60
Predicted Effect probably benign
Transcript: ENSMUST00000099442
AA Change: R10S

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000097041
Gene: ENSMUSG00000074862
AA Change: R10S

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 benign
Transcript: ENSMUST00000119492
AA Change: R10S

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000113938
Gene: ENSMUSG00000074862
AA Change: R10S

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 benign
Transcript: ENSMUST00000119753
AA Change: R10S

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000113471
Gene: ENSMUSG00000074862
AA Change: R10S

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 benign
Transcript: ENSMUST00000121138
AA Change: R10S

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000113598
Gene: ENSMUSG00000074862
AA Change: R10S

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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 T C 11: 110,074,938 (GRCm39) N1375S probably benign Het
Adamts15 A T 9: 30,815,768 (GRCm39) probably benign Het
Ahnak G A 19: 8,980,911 (GRCm39) V732M possibly damaging Het
Akr1c19 G A 13: 4,286,184 (GRCm39) V61I probably benign Het
Cdh11 T C 8: 103,385,035 (GRCm39) I347V probably benign Het
Cyp11b2 A G 15: 74,724,886 (GRCm39) probably null Het
Cyp4a31 T A 4: 115,435,305 (GRCm39) probably benign Het
Emilin3 G A 2: 160,750,649 (GRCm39) Q320* probably null Het
Glra3 C A 8: 56,578,207 (GRCm39) H421Q probably benign Het
Gtf2f1 T C 17: 57,314,049 (GRCm39) N145S probably damaging Het
Hsd17b12 A T 2: 93,864,339 (GRCm39) V256E probably damaging Het
Ighv1-34 C T 12: 114,814,958 (GRCm39) G68E probably damaging Het
Ipo5 T C 14: 121,181,089 (GRCm39) probably benign Het
Knop1 T A 7: 118,452,374 (GRCm39) D63V possibly damaging Het
Krt39 T C 11: 99,411,628 (GRCm39) probably benign Het
Ldhb T C 6: 142,451,253 (GRCm39) K5R probably benign Het
Loxhd1 A T 18: 77,518,809 (GRCm39) I1872F possibly damaging Het
Lrfn5 A G 12: 61,886,532 (GRCm39) N107D probably benign Het
Mks1 A G 11: 87,746,291 (GRCm39) probably benign Het
Nup93 C T 8: 95,023,130 (GRCm39) T236I probably benign Het
Olig3 T C 10: 19,232,878 (GRCm39) S168P probably benign Het
Or1i2 A G 10: 78,447,953 (GRCm39) I174T possibly damaging Het
Pcna C T 2: 132,093,673 (GRCm39) E109K probably benign Het
Per3 A C 4: 151,093,755 (GRCm39) I1020R probably damaging Het
Plbd2 T C 5: 120,624,845 (GRCm39) N441S probably damaging Het
Plec A G 15: 76,075,519 (GRCm39) S398P probably damaging Het
Ppm1m T G 9: 106,073,610 (GRCm39) K314T probably damaging Het
Prmt2 T A 10: 76,046,224 (GRCm39) probably benign Het
Rbm19 T C 5: 120,261,023 (GRCm39) S216P probably damaging Het
Sart1 A G 19: 5,434,109 (GRCm39) probably benign Het
Tmem225 A T 9: 40,059,682 (GRCm39) I21L possibly damaging Het
Tnnt2 T C 1: 135,777,200 (GRCm39) probably null Het
Trappc10 A T 10: 78,064,754 (GRCm39) probably benign Het
Trip13 A G 13: 74,081,075 (GRCm39) L97P probably benign Het
Zmat2 T G 18: 36,929,119 (GRCm39) V89G probably damaging Het
Other mutations in BC025920
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01764:BC025920 APN 10 81,444,984 (GRCm39) missense probably damaging 1.00
R6412:BC025920 UTSW 10 81,445,195 (GRCm39) missense probably benign 0.01
R6683:BC025920 UTSW 10 81,445,135 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02