Incidental Mutation 'IGL03063:Hhla1'
| ID |
409533 |
| 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 # |
IGL03063
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
65794292-65848653 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 65813639 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 231
(I231T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000098149
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100584]
|
| AlphaFold |
Q3TYV2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000100584
AA Change: I231T
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000098149
Gene: ENSMUSG00000072511
AA Change: I231T
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc6 |
C |
T |
7: 45,665,856 (GRCm39) |
V255I |
probably benign |
Het |
| Arfgef2 |
T |
C |
2: 166,701,702 (GRCm39) |
|
probably benign |
Het |
| Bpifb2 |
A |
T |
2: 153,731,044 (GRCm39) |
Q205L |
probably damaging |
Het |
| Ccdc30 |
C |
T |
4: 119,206,964 (GRCm39) |
R386Q |
possibly damaging |
Het |
| Cdk5rap2 |
T |
A |
4: 70,273,114 (GRCm39) |
|
probably null |
Het |
| Comtd1 |
A |
G |
14: 21,897,735 (GRCm39) |
|
probably null |
Het |
| Dao |
T |
C |
5: 114,159,076 (GRCm39) |
C261R |
probably damaging |
Het |
| Dner |
A |
G |
1: 84,563,059 (GRCm39) |
V187A |
possibly damaging |
Het |
| Dsg3 |
T |
C |
18: 20,666,425 (GRCm39) |
|
probably benign |
Het |
| Eif3j2 |
A |
G |
18: 43,610,444 (GRCm39) |
L123P |
possibly damaging |
Het |
| Esf1 |
G |
A |
2: 139,996,706 (GRCm39) |
|
probably benign |
Het |
| Exo5 |
G |
A |
4: 120,778,830 (GRCm39) |
T345I |
possibly damaging |
Het |
| Fancl |
A |
T |
11: 26,337,299 (GRCm39) |
I29F |
probably damaging |
Het |
| Gadl1 |
C |
T |
9: 115,795,335 (GRCm39) |
H313Y |
probably damaging |
Het |
| Gm17190 |
G |
A |
13: 96,219,270 (GRCm39) |
|
probably benign |
Het |
| Gtf3c1 |
G |
T |
7: 125,245,675 (GRCm39) |
T1580N |
possibly damaging |
Het |
| Gtf3c6 |
T |
A |
10: 40,127,155 (GRCm39) |
I66L |
probably benign |
Het |
| Hk2 |
A |
G |
6: 82,716,630 (GRCm39) |
Y273H |
probably damaging |
Het |
| Hk2 |
A |
G |
6: 82,726,213 (GRCm39) |
I83T |
probably benign |
Het |
| Ifit1 |
T |
C |
19: 34,625,404 (GRCm39) |
V180A |
possibly damaging |
Het |
| Igkv9-129 |
A |
T |
6: 67,817,172 (GRCm39) |
D92V |
probably damaging |
Het |
| Lrrc1 |
A |
G |
9: 77,406,551 (GRCm39) |
F36S |
probably damaging |
Het |
| Man1b1 |
A |
G |
2: 25,224,416 (GRCm39) |
E102G |
possibly damaging |
Het |
| Myh8 |
A |
G |
11: 67,179,031 (GRCm39) |
S475G |
probably benign |
Het |
| Or52s1 |
T |
A |
7: 102,861,841 (GRCm39) |
V247D |
probably damaging |
Het |
| Otud4 |
T |
A |
8: 80,390,419 (GRCm39) |
M343K |
probably benign |
Het |
| Peg10 |
A |
T |
6: 4,756,647 (GRCm39) |
|
probably benign |
Het |
| Plet1 |
T |
A |
9: 50,415,722 (GRCm39) |
N197K |
probably benign |
Het |
| Ppp1r12a |
C |
T |
10: 108,097,115 (GRCm39) |
R243C |
probably damaging |
Het |
| Serpinb10 |
A |
T |
1: 107,469,957 (GRCm39) |
K146N |
possibly damaging |
Het |
| Sis |
A |
G |
3: 72,835,630 (GRCm39) |
F911L |
probably benign |
Het |
| Spon1 |
G |
A |
7: 113,632,260 (GRCm39) |
V528M |
possibly damaging |
Het |
| Tdrd9 |
T |
C |
12: 112,010,733 (GRCm39) |
V1100A |
probably benign |
Het |
| Tmtc3 |
T |
C |
10: 100,283,468 (GRCm39) |
M696V |
probably benign |
Het |
| Triobp |
A |
G |
15: 78,875,084 (GRCm39) |
E122G |
probably damaging |
Het |
| Wt1 |
G |
A |
2: 105,000,368 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Hhla1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00813:Hhla1
|
APN |
15 |
65,813,810 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation