Incidental Mutation 'IGL00233:Gm3238'
ID306857
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm3238
Ensembl Gene ENSMUSG00000095817
Gene Namepredicted gene 3238
Synonyms
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL00233
Quality Score
Status
Chromosome10
Chromosomal Location77770633-77771325 bp(-) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) C to T at 77771292 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000130212 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092366] [ENSMUST00000167669] [ENSMUST00000168298]
Predicted Effect probably benign
Transcript: ENSMUST00000092366
SMART Domains Protein: ENSMUSP00000090020
Gene: ENSMUSG00000069581

DomainStartEndE-ValueType
Blast:TSPN 1 71 8e-40 BLAST
SCOP:d1c4ra_ 2 67 2e-7 SMART
low complexity region 190 200 N/A INTRINSIC
Pfam:EPTP 208 255 2.6e-22 PFAM
Pfam:EPTP 260 307 1.4e-21 PFAM
Pfam:EPTP 312 359 8.9e-14 PFAM
Pfam:EPTP 362 417 6.2e-13 PFAM
Pfam:EPTP 422 469 1.3e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000167669
SMART Domains Protein: ENSMUSP00000130212
Gene: ENSMUSG00000095593

DomainStartEndE-ValueType
Pfam:Keratin_B2_2 7 66 1.1e-8 PFAM
Pfam:Keratin_B2_2 111 161 1.7e-5 PFAM
low complexity region 166 190 N/A INTRINSIC
low complexity region 192 204 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000168298
AA Change: A12T
SMART Domains Protein: ENSMUSP00000130008
Gene: ENSMUSG00000095817
AA Change: A12T

DomainStartEndE-ValueType
Pfam:Keratin_B2_2 5 56 4.5e-9 PFAM
Pfam:Keratin_B2_2 22 66 6.6e-10 PFAM
Pfam:Keratin_B2_2 108 155 9e-9 PFAM
Pfam:Keratin_B2_2 153 198 2e-6 PFAM
Pfam:Keratin_B2_2 183 230 2.6e-4 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aimp1 A T 3: 132,677,143 probably benign Het
Arpc5 A G 1: 152,768,907 I64V probably benign Het
C030048H21Rik G A 2: 26,256,620 R1227W probably damaging Het
Cacnb1 T C 11: 98,022,364 E21G possibly damaging Het
Catsper3 A G 13: 55,798,822 K111E possibly damaging Het
Cda T C 4: 138,367,846 Y33C probably damaging Het
Celsr3 A T 9: 108,848,925 R3118W probably damaging Het
Clvs1 G A 4: 9,281,939 G128R probably damaging Het
Col9a1 A G 1: 24,185,225 S163G unknown Het
Cyp4v3 T C 8: 45,307,003 D64G probably benign Het
Dst C A 1: 34,251,839 L837M probably damaging Het
Eif2ak4 T A 2: 118,464,055 I1349N probably damaging Het
Elob C A 17: 23,824,980 probably null Het
Glipr1 T A 10: 111,985,650 I216L probably benign Het
Gm43638 C T 5: 87,460,399 R527H probably damaging Het
H2-M11 A G 17: 36,547,553 K80E probably benign Het
Htt A G 5: 34,896,026 probably null Het
Kif26a A G 12: 112,157,632 S224G probably damaging Het
Mgat5b T A 11: 116,931,662 M74K probably damaging Het
Ms4a7 A T 19: 11,322,360 V89D probably damaging Het
Nlrx1 G A 9: 44,264,068 T137I probably benign Het
Pcdhb12 A G 18: 37,436,982 T394A probably benign Het
Pkhd1l1 T C 15: 44,477,586 I151T probably damaging Het
Plcl1 T C 1: 55,406,536 V50A probably benign Het
Prkd2 T C 7: 16,865,862 F750S probably damaging Het
Psmd13 T C 7: 140,897,621 V311A probably damaging Het
Rec8 C T 14: 55,623,515 Q334* probably null Het
Rfx7 G A 9: 72,607,690 V157I probably damaging Het
Sele G A 1: 164,051,834 C312Y probably damaging Het
Sorcs3 A G 19: 48,748,319 T694A probably benign Het
Tma16 G T 8: 66,480,445 Q95K probably benign Het
Vmn1r191 T C 13: 22,178,720 D288G probably damaging Het
Vmn1r231 A T 17: 20,890,566 I29N possibly damaging Het
Vmn2r1 T A 3: 64,104,968 L750* probably null Het
Other mutations in Gm3238
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01160:Gm3238 APN 10 77770883 intron probably benign
IGL02252:Gm3238 APN 10 77770857 intron probably benign
R6849:Gm3238 UTSW 10 77770910 intron probably benign
R7699:Gm3238 UTSW 10 77770635 makesense probably null
R7700:Gm3238 UTSW 10 77770635 makesense probably null
R8098:Gm3238 UTSW 10 77770640 missense unknown
Z1176:Gm3238 UTSW 10 77771024 missense unknown
Posted On2015-04-16