Incidental Mutation 'IGL00813:Hhla1'
ID12663
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hhla1
Ensembl Gene ENSMUSG00000072511
Gene NameHERV-H LTR-associating 1
SynonymsF930104E18Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.061) question?
Stock #IGL00813
Quality Score
Status
Chromosome15
Chromosomal Location65922443-65976804 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 65941961 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glutamic Acid at position 209 (V209E)
Ref Sequence ENSEMBL: ENSMUSP00000098149 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100584]
Predicted Effect probably damaging
Transcript: ENSMUST00000100584
AA Change: V209E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000098149
Gene: ENSMUSG00000072511
AA Change: V209E

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
low complexity region 403 416 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 C A 1: 71,353,762 probably null Het
Aco1 T C 4: 40,180,290 probably null Het
Bloc1s5 T C 13: 38,619,182 N76S probably damaging Het
Cyp3a44 A T 5: 145,774,347 *505R probably null Het
Epor T C 9: 21,960,591 T253A possibly damaging Het
Faim G A 9: 98,992,165 G15R probably damaging Het
Gm884 A C 11: 103,614,498 F2215V probably benign Het
Hecw1 T A 13: 14,278,376 probably null Het
Ino80d G A 1: 63,093,303 P67L probably damaging Het
Lysmd3 C A 13: 81,665,242 N76K probably damaging Het
Map10 G A 8: 125,671,932 R688Q probably benign Het
Mars A T 10: 127,300,047 M554K probably damaging Het
Mgat5 G A 1: 127,384,806 M227I probably benign Het
Nup210l A G 3: 90,132,418 I389V probably benign Het
Ppp1r16b A G 2: 158,756,965 K315R probably damaging Het
Rae1 A G 2: 173,006,933 D114G probably damaging Het
Rbms1 T C 2: 60,797,705 K64E probably damaging Het
Shox2 C A 3: 66,975,444 Q105H probably damaging Het
Simc1 C A 13: 54,546,986 F293L probably damaging Het
Slc11a1 A G 1: 74,383,480 I289V probably benign Het
Slit2 G A 5: 47,989,151 E95K possibly damaging Het
Stk32a T A 18: 43,310,520 V254E probably benign Het
Them5 A G 3: 94,343,288 K53E probably damaging Het
Tmem67 T C 4: 12,058,587 probably benign Het
Wdr7 T A 18: 63,735,604 L248Q possibly damaging Het
Other mutations in Hhla1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02531:Hhla1 APN 15 65967407 splice site probably benign
IGL02609:Hhla1 APN 15 65930614 splice site probably benign
IGL02948:Hhla1 APN 15 65942693 missense probably damaging 1.00
IGL03063:Hhla1 APN 15 65941790 missense probably damaging 1.00
IGL03411:Hhla1 APN 15 65930229 critical splice donor site probably null
encroachment UTSW 15 65948485 missense probably damaging 1.00
trespass UTSW 15 65936382 nonsense probably null
P4717OSA:Hhla1 UTSW 15 65924001 missense probably damaging 0.99
R0277:Hhla1 UTSW 15 65948503 missense probably benign 0.01
R0323:Hhla1 UTSW 15 65948503 missense probably benign 0.01
R0492:Hhla1 UTSW 15 65936291 missense probably benign
R1546:Hhla1 UTSW 15 65933327 missense probably benign 0.10
R2039:Hhla1 UTSW 15 65936377 missense possibly damaging 0.75
R2112:Hhla1 UTSW 15 65936383 missense probably benign 0.00
R2405:Hhla1 UTSW 15 65936311 nonsense probably null
R4804:Hhla1 UTSW 15 65923099 missense probably benign 0.01
R5512:Hhla1 UTSW 15 65924016 missense probably benign 0.00
R5651:Hhla1 UTSW 15 65941814 missense probably damaging 1.00
R6012:Hhla1 UTSW 15 65948490 missense probably damaging 1.00
R6237:Hhla1 UTSW 15 65941797 missense probably damaging 1.00
R6837:Hhla1 UTSW 15 65948485 missense probably damaging 1.00
R7506:Hhla1 UTSW 15 65936382 nonsense probably null
R7657:Hhla1 UTSW 15 65965459 missense probably damaging 0.99
Z1177:Hhla1 UTSW 15 65941775 missense probably damaging 0.99
Posted On2012-12-06