Incidental Mutation 'R5606:Aldh1a7'
ID |
439313 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Aldh1a7
|
Ensembl Gene |
ENSMUSG00000024747 |
Gene Name |
aldehyde dehydrogenase family 1, subfamily A7 |
Synonyms |
Aldh-pb, Ahd2-like |
MMRRC Submission |
043157-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.231)
|
Stock # |
R5606 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
20670318-20704920 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 20699731 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 75
(S75P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025656
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025656]
|
AlphaFold |
O35945 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000025656
AA Change: S75P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000025656 Gene: ENSMUSG00000024747 AA Change: S75P
Domain | Start | End | E-Value | Type |
Pfam:Aldedh
|
29 |
492 |
2.5e-185 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 96.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankib1 |
A |
T |
5: 3,751,907 (GRCm39) |
I711N |
probably damaging |
Het |
Ankmy2 |
A |
G |
12: 36,215,920 (GRCm39) |
N40S |
probably benign |
Het |
Armc8 |
T |
C |
9: 99,418,315 (GRCm39) |
K80E |
probably benign |
Het |
Blm |
C |
A |
7: 80,110,580 (GRCm39) |
|
probably null |
Het |
Cand1 |
C |
A |
10: 119,047,359 (GRCm39) |
Q710H |
possibly damaging |
Het |
Ckap2l |
A |
T |
2: 129,127,959 (GRCm39) |
I73N |
probably damaging |
Het |
Ddx27 |
T |
A |
2: 166,861,886 (GRCm39) |
D129E |
probably benign |
Het |
Dnm3 |
T |
C |
1: 162,113,587 (GRCm39) |
E491G |
probably damaging |
Het |
Fgd6 |
C |
A |
10: 93,974,190 (GRCm39) |
Y1310* |
probably null |
Het |
Hnrnph3 |
C |
T |
10: 62,855,222 (GRCm39) |
R21H |
possibly damaging |
Het |
Hs3st4 |
C |
A |
7: 123,996,365 (GRCm39) |
Q344K |
probably damaging |
Het |
Hyal3 |
T |
C |
9: 107,462,265 (GRCm39) |
S100P |
probably benign |
Het |
Map3k19 |
G |
A |
1: 127,750,694 (GRCm39) |
R886C |
probably benign |
Het |
Mmrn2 |
G |
A |
14: 34,119,581 (GRCm39) |
D187N |
probably damaging |
Het |
Myo5c |
G |
A |
9: 75,182,790 (GRCm39) |
A810T |
probably damaging |
Het |
Noxa1 |
T |
A |
2: 24,976,292 (GRCm39) |
E332V |
possibly damaging |
Het |
Or10al7 |
T |
C |
17: 38,365,693 (GRCm39) |
T264A |
probably damaging |
Het |
Or12j5 |
T |
A |
7: 140,083,713 (GRCm39) |
I220F |
probably damaging |
Het |
Or51r1 |
T |
C |
7: 102,228,481 (GRCm39) |
S260P |
probably damaging |
Het |
Or7c70 |
A |
G |
10: 78,683,395 (GRCm39) |
M118T |
probably benign |
Het |
Parg |
T |
A |
14: 31,984,693 (GRCm39) |
V241E |
probably damaging |
Het |
Pitrm1 |
T |
A |
13: 6,610,101 (GRCm39) |
V391D |
probably damaging |
Het |
Plch1 |
A |
T |
3: 63,648,108 (GRCm39) |
V421E |
probably benign |
Het |
Slc27a2 |
C |
T |
2: 126,406,610 (GRCm39) |
A98V |
probably damaging |
Het |
Spta1 |
A |
T |
1: 174,047,468 (GRCm39) |
H1704L |
probably damaging |
Het |
Tbpl2 |
G |
A |
2: 23,977,245 (GRCm39) |
P258S |
possibly damaging |
Het |
Thoc2l |
T |
C |
5: 104,669,744 (GRCm39) |
I1422T |
probably benign |
Het |
Tlr11 |
T |
C |
14: 50,599,717 (GRCm39) |
C568R |
probably benign |
Het |
Tmem260 |
T |
A |
14: 48,722,437 (GRCm39) |
M324K |
probably damaging |
Het |
Tmprss11g |
T |
A |
5: 86,635,269 (GRCm39) |
T402S |
probably damaging |
Het |
Trim21 |
C |
G |
7: 102,208,813 (GRCm39) |
R302P |
probably damaging |
Het |
Uox |
T |
A |
3: 146,316,057 (GRCm39) |
Y21* |
probably null |
Het |
Vmn1r74 |
A |
G |
7: 11,580,822 (GRCm39) |
M41V |
probably benign |
Het |
Vmn2r59 |
A |
C |
7: 41,695,318 (GRCm39) |
S365A |
probably benign |
Het |
Zfp345 |
A |
T |
2: 150,316,788 (GRCm39) |
Y6* |
probably null |
Het |
Zpld2 |
A |
C |
4: 133,927,523 (GRCm39) |
V410G |
probably benign |
Het |
|
Other mutations in Aldh1a7 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00693:Aldh1a7
|
APN |
19 |
20,677,410 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01132:Aldh1a7
|
APN |
19 |
20,704,404 (GRCm39) |
missense |
possibly damaging |
0.76 |
IGL01630:Aldh1a7
|
APN |
19 |
20,673,693 (GRCm39) |
splice site |
probably benign |
|
IGL01901:Aldh1a7
|
APN |
19 |
20,695,103 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02324:Aldh1a7
|
APN |
19 |
20,704,368 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02822:Aldh1a7
|
APN |
19 |
20,679,630 (GRCm39) |
missense |
possibly damaging |
0.85 |
IGL03162:Aldh1a7
|
APN |
19 |
20,685,645 (GRCm39) |
missense |
probably benign |
0.21 |
PIT4514001:Aldh1a7
|
UTSW |
19 |
20,679,604 (GRCm39) |
missense |
probably benign |
0.07 |
R0125:Aldh1a7
|
UTSW |
19 |
20,704,430 (GRCm39) |
splice site |
probably benign |
|
R0268:Aldh1a7
|
UTSW |
19 |
20,686,866 (GRCm39) |
critical splice acceptor site |
probably null |
|
R0833:Aldh1a7
|
UTSW |
19 |
20,679,607 (GRCm39) |
missense |
probably damaging |
1.00 |
R1665:Aldh1a7
|
UTSW |
19 |
20,704,825 (GRCm39) |
missense |
probably benign |
|
R1709:Aldh1a7
|
UTSW |
19 |
20,693,316 (GRCm39) |
missense |
probably damaging |
1.00 |
R1772:Aldh1a7
|
UTSW |
19 |
20,693,383 (GRCm39) |
missense |
probably damaging |
1.00 |
R1917:Aldh1a7
|
UTSW |
19 |
20,704,819 (GRCm39) |
missense |
probably benign |
|
R2570:Aldh1a7
|
UTSW |
19 |
20,677,320 (GRCm39) |
missense |
probably benign |
0.35 |
R3778:Aldh1a7
|
UTSW |
19 |
20,696,675 (GRCm39) |
missense |
possibly damaging |
0.70 |
R3832:Aldh1a7
|
UTSW |
19 |
20,685,602 (GRCm39) |
missense |
probably damaging |
1.00 |
R3894:Aldh1a7
|
UTSW |
19 |
20,673,762 (GRCm39) |
nonsense |
probably null |
|
R4601:Aldh1a7
|
UTSW |
19 |
20,693,343 (GRCm39) |
missense |
probably damaging |
0.98 |
R4948:Aldh1a7
|
UTSW |
19 |
20,704,374 (GRCm39) |
missense |
possibly damaging |
0.77 |
R5562:Aldh1a7
|
UTSW |
19 |
20,679,628 (GRCm39) |
nonsense |
probably null |
|
R5641:Aldh1a7
|
UTSW |
19 |
20,693,293 (GRCm39) |
missense |
probably benign |
0.00 |
R5808:Aldh1a7
|
UTSW |
19 |
20,685,561 (GRCm39) |
missense |
possibly damaging |
0.79 |
R6646:Aldh1a7
|
UTSW |
19 |
20,677,275 (GRCm39) |
missense |
possibly damaging |
0.94 |
R6759:Aldh1a7
|
UTSW |
19 |
20,677,320 (GRCm39) |
missense |
possibly damaging |
0.89 |
R7034:Aldh1a7
|
UTSW |
19 |
20,685,542 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7036:Aldh1a7
|
UTSW |
19 |
20,685,542 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7150:Aldh1a7
|
UTSW |
19 |
20,693,382 (GRCm39) |
missense |
probably damaging |
1.00 |
R7255:Aldh1a7
|
UTSW |
19 |
20,692,092 (GRCm39) |
missense |
probably damaging |
1.00 |
R7875:Aldh1a7
|
UTSW |
19 |
20,693,343 (GRCm39) |
missense |
possibly damaging |
0.90 |
R7964:Aldh1a7
|
UTSW |
19 |
20,693,406 (GRCm39) |
missense |
probably benign |
0.05 |
R7964:Aldh1a7
|
UTSW |
19 |
20,677,371 (GRCm39) |
missense |
probably damaging |
0.99 |
R7984:Aldh1a7
|
UTSW |
19 |
20,686,764 (GRCm39) |
missense |
probably damaging |
0.98 |
R8547:Aldh1a7
|
UTSW |
19 |
20,692,067 (GRCm39) |
missense |
possibly damaging |
0.93 |
X0022:Aldh1a7
|
UTSW |
19 |
20,696,679 (GRCm39) |
missense |
probably benign |
0.01 |
|
Predicted Primers |
PCR Primer
(F):5'- CTGGACTCTGAGAAGTTCTAGAG -3'
(R):5'- ACATACTACAGTGAGGTATGGCG -3'
Sequencing Primer
(F):5'- CAGGAGGAAGTTTGTCATTGTACTC -3'
(R):5'- ATGGCGGCTTGGCTTCTC -3'
|
Posted On |
2016-10-26 |