Incidental Mutation 'IGL00813:Hhla1'
| ID |
12663 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Hhla1
|
| Ensembl Gene |
ENSMUSG00000072511 |
| Gene Name |
HERV-H LTR-associating 1 |
| Synonyms |
F930104E18Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.050)
|
| Stock # |
IGL00813
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
65794292-65848653 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 65813810 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| 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]
|
| AlphaFold |
Q3TYV2 |
| 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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
C |
A |
1: 71,392,921 (GRCm39) |
|
probably null |
Het |
| Aco1 |
T |
C |
4: 40,180,290 (GRCm39) |
|
probably null |
Het |
| Bloc1s5 |
T |
C |
13: 38,803,158 (GRCm39) |
N76S |
probably damaging |
Het |
| Cyp3a44 |
A |
T |
5: 145,711,157 (GRCm39) |
*505R |
probably null |
Het |
| Epor |
T |
C |
9: 21,871,887 (GRCm39) |
T253A |
possibly damaging |
Het |
| Faim |
G |
A |
9: 98,874,218 (GRCm39) |
G15R |
probably damaging |
Het |
| Hecw1 |
T |
A |
13: 14,452,961 (GRCm39) |
|
probably null |
Het |
| Ino80d |
G |
A |
1: 63,132,462 (GRCm39) |
P67L |
probably damaging |
Het |
| Lrrc37 |
A |
C |
11: 103,505,324 (GRCm39) |
F2215V |
probably benign |
Het |
| Lysmd3 |
C |
A |
13: 81,813,361 (GRCm39) |
N76K |
probably damaging |
Het |
| Map10 |
G |
A |
8: 126,398,671 (GRCm39) |
R688Q |
probably benign |
Het |
| Mars1 |
A |
T |
10: 127,135,916 (GRCm39) |
M554K |
probably damaging |
Het |
| Mgat5 |
G |
A |
1: 127,312,543 (GRCm39) |
M227I |
probably benign |
Het |
| Nup210l |
A |
G |
3: 90,039,725 (GRCm39) |
I389V |
probably benign |
Het |
| Ppp1r16b |
A |
G |
2: 158,598,885 (GRCm39) |
K315R |
probably damaging |
Het |
| Rae1 |
A |
G |
2: 172,848,726 (GRCm39) |
D114G |
probably damaging |
Het |
| Rbms1 |
T |
C |
2: 60,628,049 (GRCm39) |
K64E |
probably damaging |
Het |
| Shox2 |
C |
A |
3: 66,882,777 (GRCm39) |
Q105H |
probably damaging |
Het |
| Simc1 |
C |
A |
13: 54,694,799 (GRCm39) |
F293L |
probably damaging |
Het |
| Slc11a1 |
A |
G |
1: 74,422,639 (GRCm39) |
I289V |
probably benign |
Het |
| Slit2 |
G |
A |
5: 48,146,493 (GRCm39) |
E95K |
possibly damaging |
Het |
| Stk32a |
T |
A |
18: 43,443,585 (GRCm39) |
V254E |
probably benign |
Het |
| Them5 |
A |
G |
3: 94,250,595 (GRCm39) |
K53E |
probably damaging |
Het |
| Tmem67 |
T |
C |
4: 12,058,587 (GRCm39) |
|
probably benign |
Het |
| Wdr7 |
T |
A |
18: 63,868,675 (GRCm39) |
L248Q |
possibly damaging |
Het |
|
| Other mutations in Hhla1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02531:Hhla1
|
APN |
15 |
65,839,256 (GRCm39) |
splice site |
probably benign |
|
|
IGL02609:Hhla1
|
APN |
15 |
65,802,463 (GRCm39) |
splice site |
probably benign |
|
|
IGL02948:Hhla1
|
APN |
15 |
65,814,542 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03063:Hhla1
|
APN |
15 |
65,813,639 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03411:Hhla1
|
APN |
15 |
65,802,078 (GRCm39) |
critical splice donor site |
probably null |
|
|
Encroachment
|
UTSW |
15 |
65,820,334 (GRCm39) |
missense |
probably damaging |
1.00 |
|
trespass
|
UTSW |
15 |
65,808,231 (GRCm39) |
nonsense |
probably null |
|
|
P4717OSA:Hhla1
|
UTSW |
15 |
65,795,850 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0277:Hhla1
|
UTSW |
15 |
65,820,352 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0323:Hhla1
|
UTSW |
15 |
65,820,352 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0492:Hhla1
|
UTSW |
15 |
65,808,140 (GRCm39) |
missense |
probably benign |
|
|
R1546:Hhla1
|
UTSW |
15 |
65,805,176 (GRCm39) |
missense |
probably benign |
0.10 |
|
R2039:Hhla1
|
UTSW |
15 |
65,808,226 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R2112:Hhla1
|
UTSW |
15 |
65,808,232 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2405:Hhla1
|
UTSW |
15 |
65,808,160 (GRCm39) |
nonsense |
probably null |
|
|
R4804:Hhla1
|
UTSW |
15 |
65,794,948 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5512:Hhla1
|
UTSW |
15 |
65,795,865 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5651:Hhla1
|
UTSW |
15 |
65,813,663 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6012:Hhla1
|
UTSW |
15 |
65,820,339 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6237:Hhla1
|
UTSW |
15 |
65,813,646 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6837:Hhla1
|
UTSW |
15 |
65,820,334 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7506:Hhla1
|
UTSW |
15 |
65,808,231 (GRCm39) |
nonsense |
probably null |
|
|
R7657:Hhla1
|
UTSW |
15 |
65,837,308 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8461:Hhla1
|
UTSW |
15 |
65,795,723 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9137:Hhla1
|
UTSW |
15 |
65,795,761 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9434:Hhla1
|
UTSW |
15 |
65,839,226 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R9663:Hhla1
|
UTSW |
15 |
65,813,630 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Hhla1
|
UTSW |
15 |
65,813,624 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2012-12-06 |
Incidental Mutation