Incidental Mutation 'P4717OSA:Hhla1'
ID |
44008 |
Institutional Source |
Beutler Lab
|
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 # |
P4717OSA (G1)
of strain
634
|
Quality Score |
225 |
Status
|
Validated
(trace)
|
Chromosome |
15 |
Chromosomal Location |
65794292-65848653 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 65795850 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 452
(L452P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000098149
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100584]
|
AlphaFold |
Q3TYV2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000100584
AA Change: L452P
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000098149 Gene: ENSMUSG00000072511 AA Change: L452P
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
low complexity region
|
403 |
416 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173338
|
Meta Mutation Damage Score |
0.7464 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.6%
|
Validation Efficiency |
100% (27/27) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 22 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930556J24Rik |
A |
T |
11: 3,888,178 (GRCm39) |
|
probably null |
Het |
Acsm5 |
A |
T |
7: 119,131,195 (GRCm39) |
E204D |
probably benign |
Het |
Ahi1 |
G |
C |
10: 20,848,009 (GRCm39) |
R472S |
probably damaging |
Het |
Bbof1 |
G |
A |
12: 84,473,734 (GRCm39) |
A355T |
probably damaging |
Het |
Capn10 |
G |
T |
1: 92,867,116 (GRCm39) |
Q115H |
probably damaging |
Het |
Clec4n |
A |
C |
6: 123,221,499 (GRCm39) |
Q114H |
probably damaging |
Het |
Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
Depdc1a |
T |
C |
3: 159,228,184 (GRCm39) |
V312A |
probably damaging |
Het |
Gbp2 |
T |
C |
3: 142,336,357 (GRCm39) |
F236L |
possibly damaging |
Het |
Glb1l2 |
A |
G |
9: 26,677,317 (GRCm39) |
I527T |
probably damaging |
Het |
Mcoln3 |
T |
G |
3: 145,830,504 (GRCm39) |
V78G |
probably damaging |
Het |
Mylk |
T |
A |
16: 34,797,483 (GRCm39) |
|
probably benign |
Het |
Nxpe2 |
T |
A |
9: 48,237,677 (GRCm39) |
M193L |
probably benign |
Het |
Olig1 |
A |
T |
16: 91,066,877 (GRCm39) |
Y38F |
probably damaging |
Het |
Pkhd1l1 |
T |
C |
15: 44,386,895 (GRCm39) |
V1256A |
probably benign |
Het |
Pkhd1l1 |
A |
T |
15: 44,391,643 (GRCm39) |
I1570F |
probably damaging |
Het |
Prss12 |
T |
C |
3: 123,241,267 (GRCm39) |
Y154H |
probably damaging |
Het |
Rbp3 |
A |
G |
14: 33,677,456 (GRCm39) |
D468G |
probably damaging |
Het |
Relt |
G |
A |
7: 100,496,788 (GRCm39) |
R360C |
probably damaging |
Het |
Tmed4 |
T |
C |
11: 6,223,727 (GRCm39) |
|
probably benign |
Het |
Trhr |
C |
A |
15: 44,060,831 (GRCm39) |
T117K |
probably damaging |
Het |
Ube2e2 |
A |
G |
14: 18,630,297 (GRCm38) |
|
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 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AAGGGAGTCACTGTCCCAGGTTAC -3'
(R):5'- GTATGCTCCTCAGAGAACTCATGCC -3'
Sequencing Primer
(F):5'- AGGTTACCTTATGGCTTCTGAAC -3'
(R):5'- TCAGAGAACTCATGCCTGGTC -3'
|
Posted On |
2013-05-31 |