Incidental Mutation 'IGL02067:Gm14305'
ID185699
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm14305
Ensembl Gene ENSMUSG00000078878
Gene Namepredicted gene 14305
Synonyms
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL02067
Quality Score
Status
Chromosome2
Chromosomal Location176708328-176721813 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 176719317 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 53 (E53D)
Ref Sequence ENSEMBL: ENSMUSP00000104608 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000108980] [ENSMUST00000108981] [ENSMUST00000108983] [ENSMUST00000141122]
Predicted Effect probably damaging
Transcript: ENSMUST00000108980
AA Change: E53D

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000104608
Gene: ENSMUSG00000078878
AA Change: E53D

DomainStartEndE-ValueType
KRAB 4 64 1.47e-12 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000108981
AA Change: E53D

PolyPhen 2 Score 0.898 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000104609
Gene: ENSMUSG00000078878
AA Change: E53D

DomainStartEndE-ValueType
KRAB 4 66 1.84e-13 SMART
ZnF_C2H2 78 97 1.61e2 SMART
ZnF_C2H2 103 125 4.17e-3 SMART
ZnF_C2H2 131 153 1.67e-2 SMART
ZnF_C2H2 159 181 1.06e-4 SMART
ZnF_C2H2 187 209 6.08e-5 SMART
ZnF_C2H2 215 237 5.99e-4 SMART
ZnF_C2H2 243 265 8.02e-5 SMART
ZnF_C2H2 271 293 1.67e-2 SMART
ZnF_C2H2 299 321 3.89e-3 SMART
ZnF_C2H2 327 349 2.4e-3 SMART
ZnF_C2H2 355 377 4.17e-3 SMART
ZnF_C2H2 383 405 3.16e-3 SMART
ZnF_C2H2 411 433 3.39e-3 SMART
ZnF_C2H2 439 461 4.54e-4 SMART
ZnF_C2H2 467 489 3.44e-4 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000108983
AA Change: E53D

PolyPhen 2 Score 0.898 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000104611
Gene: ENSMUSG00000078878
AA Change: E53D

DomainStartEndE-ValueType
KRAB 4 66 1.84e-13 SMART
ZnF_C2H2 78 97 1.61e2 SMART
ZnF_C2H2 103 125 4.17e-3 SMART
ZnF_C2H2 131 153 1.67e-2 SMART
ZnF_C2H2 159 181 1.06e-4 SMART
ZnF_C2H2 187 209 6.08e-5 SMART
ZnF_C2H2 215 237 5.99e-4 SMART
ZnF_C2H2 243 265 8.02e-5 SMART
ZnF_C2H2 271 293 1.67e-2 SMART
ZnF_C2H2 299 321 3.89e-3 SMART
ZnF_C2H2 327 349 2.4e-3 SMART
ZnF_C2H2 355 377 4.17e-3 SMART
ZnF_C2H2 383 405 3.16e-3 SMART
ZnF_C2H2 411 433 3.39e-3 SMART
ZnF_C2H2 439 461 4.54e-4 SMART
ZnF_C2H2 467 489 3.44e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000141122
SMART Domains Protein: ENSMUSP00000115307
Gene: ENSMUSG00000078879

DomainStartEndE-ValueType
KRAB 23 83 2.08e-12 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700028K03Rik C T 5: 107,543,950 R36* probably null Het
Aplp2 T A 9: 31,150,895 K688N probably damaging Het
Arhgef28 G T 13: 98,077,317 Q13K probably damaging Het
Brd8 C T 18: 34,602,727 S899N probably damaging Het
Chrna6 A G 8: 27,404,396 S494P probably damaging Het
Clcc1 T A 3: 108,668,721 L195H probably damaging Het
Coq3 A G 4: 21,900,397 E208G probably benign Het
Dock4 T G 12: 40,834,385 S1684A probably damaging Het
Duoxa2 G A 2: 122,300,591 V78M possibly damaging Het
Fam189b C T 3: 89,188,596 R545* probably null Het
Fam8a1 G T 13: 46,669,848 R88L possibly damaging Het
Ganc A G 2: 120,406,304 D23G probably benign Het
Ing5 T A 1: 93,811,926 L58Q probably damaging Het
Klrb1-ps1 A G 6: 129,129,388 D164G probably damaging Het
Lama2 G A 10: 27,176,796 T1389M probably benign Het
Lrp6 A T 6: 134,480,396 I815K probably damaging Het
Nek10 A G 14: 14,861,639 D565G probably benign Het
Opa1 A G 16: 29,616,655 E641G probably damaging Het
Rbm44 T C 1: 91,152,845 S252P probably damaging Het
Sbf1 A G 15: 89,289,044 V1810A probably damaging Het
Sh3pxd2b T C 11: 32,423,095 V754A probably benign Het
Slc27a6 A G 18: 58,612,191 T566A probably benign Het
Stxbp6 C T 12: 44,861,298 R179Q probably damaging Het
Supt6 T A 11: 78,231,157 Y223F probably benign Het
Tdrd6 T C 17: 43,628,209 I649M probably damaging Het
Tecrl A T 5: 83,284,275 C258S probably benign Het
Zfp128 T C 7: 12,885,050 I74T possibly damaging Het
Other mutations in Gm14305
AlleleSourceChrCoordTypePredicted EffectPPH Score
R7166:Gm14305 UTSW 2 176720943 missense probably damaging 1.00
R7631:Gm14305 UTSW 2 176718997 missense probably benign 0.00
R7682:Gm14305 UTSW 2 176720910 missense probably benign 0.00
R7772:Gm14305 UTSW 2 176720971 nonsense probably null
R8161:Gm14305 UTSW 2 176721505 missense probably benign 0.04
Posted On2014-05-07