Incidental Mutation 'PIT4514001:Aldh1a7'
ID |
556289 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Aldh1a7
|
Ensembl Gene |
ENSMUSG00000024747 |
Gene Name |
aldehyde dehydrogenase family 1, subfamily A7 |
Synonyms |
Aldh-pb, Ahd2-like |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.231)
|
Stock # |
PIT4514001 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
20670318-20704920 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 20679604 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 391
(T391A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025656
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025656]
|
AlphaFold |
O35945 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000025656
AA Change: T391A
PolyPhen 2
Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000025656 Gene: ENSMUSG00000024747 AA Change: T391A
Domain | Start | End | E-Value | Type |
Pfam:Aldedh
|
29 |
492 |
2.5e-185 |
PFAM |
|
Coding Region Coverage |
- 1x: 93.1%
- 3x: 90.6%
- 10x: 84.2%
- 20x: 70.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930486L24Rik |
A |
G |
13: 61,001,328 (GRCm39) |
|
probably null |
Het |
Aadacl4fm2 |
T |
C |
4: 144,282,081 (GRCm39) |
Y237C |
probably damaging |
Het |
Abcc10 |
T |
A |
17: 46,616,574 (GRCm39) |
I1247F |
probably benign |
Het |
Acap3 |
G |
A |
4: 155,987,835 (GRCm39) |
A524T |
probably benign |
Het |
Adcy10 |
T |
A |
1: 165,384,360 (GRCm39) |
N1040K |
probably benign |
Het |
Adrb2 |
T |
C |
18: 62,312,798 (GRCm39) |
D9G |
probably benign |
Het |
Bcam |
A |
G |
7: 19,497,991 (GRCm39) |
V344A |
probably benign |
Het |
Birc7 |
T |
A |
2: 180,573,099 (GRCm39) |
I172N |
possibly damaging |
Het |
Cfap126 |
G |
A |
1: 170,952,881 (GRCm39) |
D45N |
probably damaging |
Het |
Cfap299 |
T |
A |
5: 98,949,730 (GRCm39) |
H221Q |
probably benign |
Het |
Cit |
G |
A |
5: 116,135,913 (GRCm39) |
|
probably null |
Het |
Col26a1 |
A |
G |
5: 136,780,579 (GRCm39) |
V295A |
probably benign |
Het |
Efcab15 |
T |
C |
11: 103,091,960 (GRCm39) |
D27G |
probably benign |
Het |
Epha7 |
C |
T |
4: 28,961,355 (GRCm39) |
Q867* |
probably null |
Het |
Fn1 |
A |
G |
1: 71,667,615 (GRCm39) |
S793P |
probably benign |
Het |
Foxb1 |
T |
A |
9: 69,667,503 (GRCm39) |
Y9F |
probably damaging |
Het |
Gpc1 |
T |
A |
1: 92,785,279 (GRCm39) |
M406K |
probably benign |
Het |
Gsg1 |
T |
C |
6: 135,214,574 (GRCm39) |
T312A |
probably benign |
Het |
Hmcn1 |
T |
A |
1: 150,545,238 (GRCm39) |
I2790F |
possibly damaging |
Het |
Kcnma1 |
C |
T |
14: 23,359,103 (GRCm39) |
|
probably null |
Het |
Lmntd1 |
AGACTGTAAGTTTCTCAAATGTGTACCTGGA |
AGA |
6: 145,372,979 (GRCm39) |
|
probably null |
Het |
Mcph1 |
A |
G |
8: 18,681,906 (GRCm39) |
K348E |
probably damaging |
Het |
Or10al6 |
T |
A |
17: 38,082,758 (GRCm39) |
N71K |
probably damaging |
Het |
Or8d4 |
T |
C |
9: 40,038,595 (GRCm39) |
I221V |
probably damaging |
Het |
Pik3cg |
T |
A |
12: 32,254,902 (GRCm39) |
R362W |
probably damaging |
Het |
Pkp3 |
T |
C |
7: 140,669,623 (GRCm39) |
L765P |
probably damaging |
Het |
Plxna2 |
A |
T |
1: 194,477,245 (GRCm39) |
I1252F |
probably benign |
Het |
Prpf8 |
T |
C |
11: 75,387,181 (GRCm39) |
F1154S |
possibly damaging |
Het |
Scn7a |
A |
G |
2: 66,514,523 (GRCm39) |
F1084L |
probably damaging |
Het |
Shmt1 |
G |
A |
11: 60,695,173 (GRCm39) |
S47L |
probably damaging |
Het |
Snap91 |
T |
C |
9: 86,761,486 (GRCm39) |
K40R |
possibly damaging |
Het |
Spag17 |
A |
T |
3: 99,920,527 (GRCm39) |
T421S |
possibly damaging |
Het |
Speer4f1 |
T |
A |
5: 17,683,754 (GRCm39) |
N139K |
possibly damaging |
Het |
Syne2 |
T |
G |
12: 76,151,789 (GRCm39) |
N1883K |
probably damaging |
Het |
Tgfb1i1 |
C |
T |
7: 127,848,353 (GRCm39) |
R191C |
probably damaging |
Het |
Tmem39b |
A |
C |
4: 129,578,290 (GRCm39) |
N310K |
possibly damaging |
Het |
Trim3 |
T |
C |
7: 105,267,417 (GRCm39) |
T321A |
probably benign |
Het |
Vmn2r124 |
T |
C |
17: 18,293,974 (GRCm39) |
I687T |
probably benign |
Het |
Zbtb8a |
T |
C |
4: 129,251,523 (GRCm39) |
D316G |
probably benign |
Het |
Zfp639 |
A |
G |
3: 32,574,409 (GRCm39) |
I345V |
possibly damaging |
Het |
Zfp764 |
T |
C |
7: 127,003,913 (GRCm39) |
H406R |
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 |
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 |
|
R5606:Aldh1a7
|
UTSW |
19 |
20,699,731 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- TTCCTCAGTGCTCAGTCGTG -3'
(R):5'- TCACCTGCTTTGAATGACCAG -3'
Sequencing Primer
(F):5'- AGTGCTCAGTCGTGCTCAC -3'
(R):5'- GAATATCCTGGCATTTTTGACGC -3'
|
Posted On |
2019-06-07 |