Incidental Mutation 'IGL02537:B230217C12Rik'
ID297548
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol B230217C12Rik
Ensembl Gene ENSMUSG00000050538
Gene NameRIKEN cDNA B230217C12 gene
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.093) question?
Stock #IGL02537
Quality Score
Status
Chromosome11
Chromosomal Location97840780-97844099 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 97842185 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 111 (S111P)
Ref Sequence ENSEMBL: ENSMUSP00000127204 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043843] [ENSMUST00000054783] [ENSMUST00000155954] [ENSMUST00000164364] [ENSMUST00000170806]
Predicted Effect probably benign
Transcript: ENSMUST00000043843
SMART Domains Protein: ENSMUSP00000042123
Gene: ENSMUSG00000038366

DomainStartEndE-ValueType
LIM 4 56 4.34e-15 SMART
NEBU 62 92 1.1e-8 SMART
NEBU 98 128 1.05e-9 SMART
low complexity region 174 180 N/A INTRINSIC
SH3 207 263 8.11e-17 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000054783
AA Change: S111P

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect probably benign
Transcript: ENSMUST00000155954
Predicted Effect probably benign
Transcript: ENSMUST00000164364
Predicted Effect probably benign
Transcript: ENSMUST00000170806
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930011G23Rik A G 5: 99,229,377 S404P probably damaging Het
A930011G23Rik G A 5: 99,229,382 P402L probably damaging Het
Alx3 T A 3: 107,604,859 M271K possibly damaging Het
Ank2 T C 3: 126,955,916 E488G probably damaging Het
Arsk T A 13: 76,074,906 R191* probably null Het
Bckdhb A G 9: 83,989,141 I158V probably benign Het
Bub1 G A 2: 127,801,347 Q1026* probably null Het
C8a A G 4: 104,845,951 M303T probably damaging Het
Cftr A G 6: 18,274,597 T905A probably benign Het
Col14a1 A T 15: 55,344,914 K132* probably null Het
Depdc5 T A 5: 32,967,787 L531Q probably damaging Het
Dzip1 G A 14: 118,909,576 probably benign Het
F5 C A 1: 164,193,117 L1054I probably benign Het
Gm4353 A T 7: 116,083,752 I198N probably damaging Het
Il1a T A 2: 129,309,076 E9V probably damaging Het
Kif15 A G 9: 122,993,849 T432A probably benign Het
Kndc1 T C 7: 139,910,410 V276A probably benign Het
Mrvi1 A T 7: 110,871,473 Y678* probably null Het
Narfl C T 17: 25,778,942 probably benign Het
Olfr1247 A C 2: 89,609,395 S236A possibly damaging Het
Olfr170 A T 16: 19,605,799 Y290N probably damaging Het
Olfr430 A T 1: 174,069,454 D52V possibly damaging Het
Palld T C 8: 61,684,934 S596G probably benign Het
Pdc A T 1: 150,333,009 D81V possibly damaging Het
Plcd4 A G 1: 74,556,050 K361R possibly damaging Het
Plekhm1 T A 11: 103,397,192 D43V probably damaging Het
Prpf31 G T 7: 3,638,751 G356C probably damaging Het
Rbpj T A 5: 53,642,143 I100K probably damaging Het
Rufy3 A G 5: 88,640,662 probably benign Het
Slc40a1 C T 1: 45,911,393 V300I probably benign Het
Slc6a12 A T 6: 121,360,514 I386F probably benign Het
Strip1 C T 3: 107,616,894 R569H possibly damaging Het
Tep1 A T 14: 50,836,113 D1996E probably damaging Het
Tmem68 A G 4: 3,569,649 S14P possibly damaging Het
Trav12-1 C A 14: 53,538,523 C44* probably null Het
Uba1 G A X: 20,678,663 R693H possibly damaging Het
Ugt2b38 T C 5: 87,421,731 T246A possibly damaging Het
Usp24 A G 4: 106,392,367 Y1427C probably damaging Het
Vmn2r78 A T 7: 86,954,288 Y558F probably damaging Het
Wdr54 A G 6: 83,153,391 W221R possibly damaging Het
Xpo4 T C 14: 57,593,833 T773A probably benign Het
Zfp518a T A 19: 40,915,430 S1268T probably benign Het
Zfp518a G A 19: 40,914,617 G997R probably damaging Het
Znfx1 T C 2: 167,056,167 D279G probably benign Het
Other mutations in B230217C12Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02487:B230217C12Rik APN 11 97842228 missense probably benign 0.00
R0800:B230217C12Rik UTSW 11 97841260 unclassified probably benign
R3151:B230217C12Rik UTSW 11 97842188 frame shift probably null
R7731:B230217C12Rik UTSW 11 97841400 missense unknown
Posted On2015-04-16