Incidental Mutation 'IGL00095:Gm3139'
ID306537
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm3139
Ensembl Gene ENSMUSG00000095074
Gene Namepredicted gene 3139
Synonyms
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL00095
Quality Score
Status
Chromosome5
Chromosomal Location94526287-94546423 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 94537804 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 441 (L441P)
Ref Sequence ENSEMBL: ENSMUSP00000144005 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000178330] [ENSMUST00000201138] [ENSMUST00000202642]
Predicted Effect probably damaging
Transcript: ENSMUST00000178330
AA Change: L441P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000137485
Gene: ENSMUSG00000095074
AA Change: L441P

DomainStartEndE-ValueType
SCOP:d1a4ya_ 273 402 3e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000201138
Predicted Effect probably damaging
Transcript: ENSMUST00000202642
AA Change: L441P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000144005
Gene: ENSMUSG00000095074
AA Change: L441P

DomainStartEndE-ValueType
SCOP:d1a4ya_ 273 402 3e-5 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cadm2 A T 16: 66,882,751 Y65N probably damaging Het
Catsperg2 C A 7: 29,698,058 C1042F possibly damaging Het
Cluh T C 11: 74,664,064 V776A probably benign Het
Crxos T A 7: 15,898,618 C116* probably null Het
Csmd1 A G 8: 16,009,297 probably benign Het
Cubn C A 2: 13,491,820 probably benign Het
Exoc2 A G 13: 30,820,626 I858T probably benign Het
Fam105a A G 15: 27,658,116 S273P possibly damaging Het
Frmpd1 C A 4: 45,279,456 T727K possibly damaging Het
Hapln3 T C 7: 79,121,983 T53A probably damaging Het
Hnrnpul1 T A 7: 25,726,154 Q584L possibly damaging Het
Ikbkb A T 8: 22,706,111 F26I probably damaging Het
Il31ra A T 13: 112,547,478 I120N possibly damaging Het
Itih1 C T 14: 30,929,821 V855M probably benign Het
Krtap4-16 A G 11: 99,851,206 S123P possibly damaging Het
Large1 C T 8: 72,837,497 R547Q probably damaging Het
Madd A G 2: 91,175,766 probably benign Het
Mark1 A G 1: 184,898,603 V770A probably damaging Het
Mpeg1 T C 19: 12,462,710 F511L probably benign Het
Mrgpra9 A G 7: 47,235,091 V276A possibly damaging Het
Nav3 T C 10: 109,841,733 T666A probably damaging Het
Ndufa8 T C 2: 36,044,455 D37G probably damaging Het
Nlrx1 A G 9: 44,253,279 L956P probably damaging Het
Nr5a1 T C 2: 38,708,341 E148G probably benign Het
Olfr310 T C 7: 86,269,669 N40S probably damaging Het
Olfr509 A T 7: 108,645,836 F247I possibly damaging Het
Patj A C 4: 98,535,562 Q1184P possibly damaging Het
Phf20l1 A G 15: 66,629,035 T619A probably benign Het
Pla2g6 T C 15: 79,289,241 T643A probably damaging Het
Radil A G 5: 142,497,922 S510P probably damaging Het
Spock1 A G 13: 57,587,739 probably benign Het
Stag3 C T 5: 138,299,138 T577M probably damaging Het
Tap2 C T 17: 34,215,378 R613C probably benign Het
Tnn A G 1: 160,125,451 V673A possibly damaging Het
Trrap T C 5: 144,779,974 probably benign Het
Vmn2r28 T C 7: 5,488,069 D393G probably benign Het
Zbtb48 T C 4: 152,021,394 H418R probably damaging Het
Zc3h12d T C 10: 7,862,467 V179A probably damaging Het
Other mutations in Gm3139
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4446:Gm3139 UTSW 5 94537843 missense probably damaging 0.99
R7189:Gm3139 UTSW 5 94537751 nonsense probably null
R7233:Gm3139 UTSW 5 94537665 missense probably benign 0.01
R7935:Gm3139 UTSW 5 94537581 missense probably damaging 1.00
Posted On2015-04-16