Incidental Mutation 'IGL02293:Hspa14'
ID290103
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hspa14
Ensembl Gene ENSMUSG00000109865
Gene Nameheat shock protein 14
SynonymsHsp70-4, 70kDa, NST-1, HSP70L1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.197) question?
Stock #IGL02293
Quality Score
Status
Chromosome2
Chromosomal Location3488850-3512814 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 3511034 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Glutamic Acid at position 68 (K68E)
Ref Sequence ENSEMBL: ENSMUSP00000027961 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027961] [ENSMUST00000036350] [ENSMUST00000124331] [ENSMUST00000140494]
Predicted Effect probably damaging
Transcript: ENSMUST00000027961
AA Change: K68E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027961
Gene: ENSMUSG00000109865
AA Change: K68E

DomainStartEndE-ValueType
Pfam:HSP70 3 509 6.3e-115 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000036350
SMART Domains Protein: ENSMUSP00000046297
Gene: ENSMUSG00000039496

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Pfam:Armet 36 181 2.6e-70 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000124331
SMART Domains Protein: ENSMUSP00000119850
Gene: ENSMUSG00000051396

DomainStartEndE-ValueType
Pfam:HSP70 3 74 1e-22 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132566
Predicted Effect probably benign
Transcript: ENSMUST00000140494
SMART Domains Protein: ENSMUSP00000120385
Gene: ENSMUSG00000051396

DomainStartEndE-ValueType
Pfam:HSP70 3 88 1.1e-22 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140610
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148167
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610507B11Rik T A 11: 78,271,910 L866H probably damaging Het
Agtr1a A G 13: 30,381,357 K135R probably benign Het
Ahdc1 C T 4: 133,065,618 A1390V possibly damaging Het
Aldh1a2 A G 9: 71,285,277 probably null Het
C6 T A 15: 4,755,303 I217K probably benign Het
Ccr1l1 G A 9: 123,977,936 T158I possibly damaging Het
Dnah6 A T 6: 73,133,650 probably benign Het
Ect2l A G 10: 18,140,511 probably null Het
Endov T C 11: 119,505,173 probably benign Het
Fpr-rs7 A G 17: 20,113,970 V86A probably benign Het
Gle1 A G 2: 29,957,760 I660V probably benign Het
Gm2056 A G 12: 88,027,263 N87S probably benign Het
Hk2 A T 6: 82,743,975 D159E probably benign Het
Hmcn1 A G 1: 150,664,915 V2881A probably damaging Het
Ifi207 A T 1: 173,723,748 I974N probably damaging Het
Igkv4-71 A C 6: 69,243,322 S42A possibly damaging Het
Itgb4 G A 11: 115,988,926 V635I probably damaging Het
Klhl32 A G 4: 24,626,935 Y555H probably damaging Het
Lmbrd2 T C 15: 9,172,189 S357P probably benign Het
Mfsd1 T A 3: 67,598,092 V380D probably damaging Het
Ndc80 A G 17: 71,514,278 F225S probably damaging Het
Olfr134 G T 17: 38,175,686 V201L probably benign Het
Olfr320 T C 11: 58,684,170 V99A probably benign Het
Plxnd1 A G 6: 115,963,913 V1355A probably damaging Het
Prkd1 A G 12: 50,489,978 S108P probably damaging Het
Ptges3 C T 10: 128,075,335 probably benign Het
Rabggta G T 14: 55,721,696 L5M probably benign Het
Rag1 C T 2: 101,643,046 D584N probably benign Het
Rasl12 A G 9: 65,408,311 D79G probably benign Het
Rhoj A G 12: 75,375,412 probably benign Het
Slc4a9 T C 18: 36,533,215 L483P probably benign Het
Other mutations in Hspa14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00857:Hspa14 APN 2 3502759 missense probably damaging 1.00
IGL02477:Hspa14 APN 2 3496624 missense probably damaging 0.98
IGL02711:Hspa14 APN 2 3502520 missense probably benign 0.15
R0522:Hspa14 UTSW 2 3511049 missense probably damaging 1.00
R1169:Hspa14 UTSW 2 3498124 missense possibly damaging 0.90
R1426:Hspa14 UTSW 2 3508821 missense probably damaging 1.00
R1471:Hspa14 UTSW 2 3491608 missense probably benign 0.01
R1846:Hspa14 UTSW 2 3491660 missense possibly damaging 0.50
R1971:Hspa14 UTSW 2 3489767 missense possibly damaging 0.51
R2353:Hspa14 UTSW 2 3511176 splice site probably null
R3508:Hspa14 UTSW 2 3491008 missense probably damaging 1.00
R3859:Hspa14 UTSW 2 3494579 nonsense probably null
R4012:Hspa14 UTSW 2 3512638 missense probably damaging 0.99
R4360:Hspa14 UTSW 2 3502523 missense possibly damaging 0.89
R4938:Hspa14 UTSW 2 3491609 missense probably benign 0.01
R5028:Hspa14 UTSW 2 3498169 missense possibly damaging 0.72
R5326:Hspa14 UTSW 2 3502523 missense possibly damaging 0.89
R5542:Hspa14 UTSW 2 3502523 missense possibly damaging 0.89
R5881:Hspa14 UTSW 2 3498170 missense probably benign 0.34
R6046:Hspa14 UTSW 2 3489764 missense possibly damaging 0.91
R6076:Hspa14 UTSW 2 3511072 missense probably benign 0.00
R6112:Hspa14 UTSW 2 3498068 missense probably benign
R6334:Hspa14 UTSW 2 3489072 unclassified probably null
R7297:Hspa14 UTSW 2 3498142 missense possibly damaging 0.76
R7424:Hspa14 UTSW 2 3489041 missense possibly damaging 0.95
R7510:Hspa14 UTSW 2 3498122 missense probably benign 0.01
Posted On2015-04-16