Incidental Mutation 'IGL02531:Hhla1'
| ID |
297328 |
| 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: 0.049)
|
| Stock # |
IGL02531
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
65794292-65848653 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to T
at 65839256 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000098149
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100584]
|
| AlphaFold |
Q3TYV2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000100584
|
| SMART Domains |
Protein: ENSMUSP00000098149
Gene: ENSMUSG00000072511
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aak1 |
C |
A |
6: 86,933,429 (GRCm39) |
H467N |
unknown |
Het |
| Alb |
A |
G |
5: 90,615,307 (GRCm39) |
D273G |
probably damaging |
Het |
| Arap3 |
A |
G |
18: 38,122,804 (GRCm39) |
S531P |
probably damaging |
Het |
| Bmpr2 |
T |
A |
1: 59,884,873 (GRCm39) |
|
probably null |
Het |
| Cfhr4 |
T |
C |
1: 139,702,307 (GRCm39) |
K59R |
probably benign |
Het |
| Chd7 |
G |
A |
4: 8,854,134 (GRCm39) |
R1902H |
probably damaging |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Cyp2b13 |
A |
T |
7: 25,761,030 (GRCm39) |
H29L |
possibly damaging |
Het |
| Enpp5 |
G |
T |
17: 44,391,843 (GRCm39) |
V91F |
probably damaging |
Het |
| Fam210b |
T |
C |
2: 172,194,675 (GRCm39) |
Y176H |
probably damaging |
Het |
| Fam83b |
T |
C |
9: 76,399,282 (GRCm39) |
E607G |
possibly damaging |
Het |
| Kdm3b |
A |
G |
18: 34,928,782 (GRCm39) |
T178A |
probably benign |
Het |
| Klf1 |
T |
A |
8: 85,631,437 (GRCm39) |
F334I |
probably damaging |
Het |
| Klra8 |
A |
G |
6: 130,095,933 (GRCm39) |
S220P |
possibly damaging |
Het |
| Medag |
A |
G |
5: 149,345,616 (GRCm39) |
N99S |
probably benign |
Het |
| Muc6 |
T |
C |
7: 141,216,853 (GRCm39) |
T2607A |
possibly damaging |
Het |
| Mug2 |
T |
G |
6: 122,049,730 (GRCm39) |
L921R |
probably damaging |
Het |
| Nacad |
T |
C |
11: 6,548,580 (GRCm39) |
N1385D |
possibly damaging |
Het |
| Nin |
A |
G |
12: 70,067,706 (GRCm39) |
F1983L |
probably benign |
Het |
| Nipal4 |
T |
C |
11: 46,042,152 (GRCm39) |
I176M |
probably damaging |
Het |
| Orc6 |
T |
C |
8: 86,029,998 (GRCm39) |
S47P |
probably damaging |
Het |
| Ovch2 |
C |
T |
7: 107,389,405 (GRCm39) |
C341Y |
probably damaging |
Het |
| Polq |
T |
A |
16: 36,882,736 (GRCm39) |
H1633Q |
possibly damaging |
Het |
| Rab23 |
T |
C |
1: 33,777,361 (GRCm39) |
|
probably benign |
Het |
| Rai14 |
A |
G |
15: 10,574,868 (GRCm39) |
S697P |
probably damaging |
Het |
| Rnf213 |
T |
C |
11: 119,327,628 (GRCm39) |
F1872L |
probably benign |
Het |
| Sdhc |
T |
C |
1: 170,963,587 (GRCm39) |
H127R |
probably damaging |
Het |
| Snx9 |
T |
C |
17: 5,942,095 (GRCm39) |
V74A |
probably benign |
Het |
| Spata31d1d |
A |
G |
13: 59,875,748 (GRCm39) |
S596P |
possibly damaging |
Het |
| Syt14 |
T |
C |
1: 192,584,242 (GRCm39) |
*78W |
probably null |
Het |
| Thoc1 |
A |
G |
18: 9,970,258 (GRCm39) |
T203A |
probably benign |
Het |
| Trmt13 |
A |
G |
3: 116,385,840 (GRCm39) |
|
probably null |
Het |
| Ttc28 |
A |
G |
5: 111,373,716 (GRCm39) |
I1020V |
probably damaging |
Het |
| Vmn2r16 |
A |
G |
5: 109,488,134 (GRCm39) |
T336A |
probably damaging |
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 |
|
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 |
2015-04-16 |
Incidental Mutation