Incidental Mutation 'R7848:Aldh1l2'
ID |
606742 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Aldh1l2
|
Ensembl Gene |
ENSMUSG00000020256 |
Gene Name |
aldehyde dehydrogenase 1 family, member L2 |
Synonyms |
D330038I09Rik |
MMRRC Submission |
045902-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7848 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
83323314-83370004 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 83335707 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glutamine
at position 714
(R714Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000020497
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020497]
[ENSMUST00000146640]
|
AlphaFold |
Q8K009 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000020497
AA Change: R714Q
PolyPhen 2
Score 0.116 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000020497 Gene: ENSMUSG00000020256 AA Change: R714Q
Domain | Start | End | E-Value | Type |
Pfam:Formyl_trans_N
|
23 |
202 |
5e-46 |
PFAM |
Pfam:Formyl_trans_C
|
226 |
330 |
1.3e-16 |
PFAM |
Pfam:PP-binding
|
346 |
412 |
9.6e-7 |
PFAM |
Pfam:Aldedh
|
451 |
919 |
3.4e-174 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000146640
AA Change: R601Q
PolyPhen 2
Score 0.116 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000117076 Gene: ENSMUSG00000020256 AA Change: R601Q
Domain | Start | End | E-Value | Type |
Pfam:Formyl_trans_N
|
1 |
89 |
2.8e-30 |
PFAM |
Pfam:Formyl_trans_C
|
113 |
217 |
1.1e-16 |
PFAM |
Pfam:PP-binding
|
233 |
299 |
1.5e-8 |
PFAM |
Pfam:Aldedh
|
338 |
806 |
8.5e-175 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
100% (62/62) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of both the aldehyde dehydrogenase superfamily and the formyl transferase superfamily. This member is the mitochondrial form of 10-formyltetrahydrofolate dehydrogenase (FDH), which converts 10-formyltetrahydrofolate to tetrahydrofolate and CO2 in an NADP(+)-dependent reaction, and plays an essential role in the distribution of one-carbon groups between the cytosolic and mitochondrial compartments of the cell. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Oct 2010]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2900026A02Rik |
C |
T |
5: 113,340,007 (GRCm39) |
A2T |
probably damaging |
Het |
Abca3 |
G |
T |
17: 24,603,506 (GRCm39) |
G566V |
probably damaging |
Het |
Aff4 |
C |
A |
11: 53,295,339 (GRCm39) |
N846K |
probably benign |
Het |
Cbln1 |
T |
C |
8: 88,198,328 (GRCm39) |
T126A |
probably damaging |
Het |
Ccdc85a |
A |
G |
11: 28,346,123 (GRCm39) |
S446P |
possibly damaging |
Het |
Ccdc87 |
A |
G |
19: 4,891,536 (GRCm39) |
Q676R |
probably damaging |
Het |
Cenatac |
A |
G |
9: 44,324,939 (GRCm39) |
S139P |
probably damaging |
Het |
Col26a1 |
T |
C |
5: 136,775,907 (GRCm39) |
K349E |
possibly damaging |
Het |
Col6a5 |
T |
C |
9: 105,805,385 (GRCm39) |
I1174V |
unknown |
Het |
Cyth1 |
TGGGCAA |
T |
11: 118,074,749 (GRCm39) |
|
probably null |
Het |
Dmxl1 |
A |
G |
18: 49,973,557 (GRCm39) |
D64G |
possibly damaging |
Het |
Dnajc15 |
T |
C |
14: 78,077,643 (GRCm39) |
H114R |
probably damaging |
Het |
Espl1 |
T |
C |
15: 102,224,961 (GRCm39) |
F1390S |
probably damaging |
Het |
F5 |
T |
C |
1: 163,989,446 (GRCm39) |
I116T |
possibly damaging |
Het |
Fam120b |
T |
C |
17: 15,626,036 (GRCm39) |
V463A |
possibly damaging |
Het |
Fat4 |
A |
G |
3: 38,942,000 (GRCm39) |
M298V |
probably benign |
Het |
Fhad1 |
A |
T |
4: 141,632,913 (GRCm39) |
M1197K |
probably benign |
Het |
Fn1 |
T |
A |
1: 71,689,760 (GRCm39) |
I127F |
probably damaging |
Het |
Frmd4a |
A |
G |
2: 4,596,728 (GRCm39) |
|
probably benign |
Het |
Gabpb2 |
A |
T |
3: 95,097,959 (GRCm39) |
V238E |
probably damaging |
Het |
Gnpat |
C |
A |
8: 125,613,630 (GRCm39) |
Q626K |
possibly damaging |
Het |
Gstm7 |
A |
T |
3: 107,835,902 (GRCm39) |
|
probably null |
Het |
Gys2 |
G |
T |
6: 142,391,741 (GRCm39) |
S507* |
probably null |
Het |
Ippk |
T |
A |
13: 49,596,972 (GRCm39) |
|
probably null |
Het |
Itga8 |
T |
A |
2: 12,196,548 (GRCm39) |
N623I |
probably damaging |
Het |
Kcnb1 |
A |
G |
2: 166,948,188 (GRCm39) |
F220S |
probably damaging |
Het |
Kiz |
T |
A |
2: 146,731,100 (GRCm39) |
S197T |
probably benign |
Het |
Klhl42 |
A |
G |
6: 147,009,598 (GRCm39) |
N479S |
probably damaging |
Het |
Lims2 |
A |
G |
18: 32,091,301 (GRCm39) |
*60W |
probably null |
Het |
Lrch4 |
A |
G |
5: 137,632,116 (GRCm39) |
N124S |
probably damaging |
Het |
Man2a2 |
G |
C |
7: 80,018,613 (GRCm39) |
A82G |
probably benign |
Het |
Map3k13 |
T |
C |
16: 21,724,621 (GRCm39) |
V373A |
probably damaging |
Het |
Mapkapk5 |
A |
G |
5: 121,683,232 (GRCm39) |
I11T |
probably benign |
Het |
Mroh2b |
C |
T |
15: 4,967,861 (GRCm39) |
Q967* |
probably null |
Het |
Mthfd1l |
A |
G |
10: 4,033,739 (GRCm39) |
T709A |
possibly damaging |
Het |
Muc6 |
T |
C |
7: 141,232,188 (GRCm39) |
T939A |
possibly damaging |
Het |
Ncam2 |
C |
T |
16: 81,287,267 (GRCm39) |
H394Y |
probably benign |
Het |
Ncoa7 |
A |
T |
10: 30,524,414 (GRCm39) |
N161K |
possibly damaging |
Het |
Nr2c1 |
C |
T |
10: 94,026,508 (GRCm39) |
S461L |
probably benign |
Het |
Nrg3 |
T |
C |
14: 38,390,240 (GRCm39) |
E323G |
probably damaging |
Het |
Nufip1 |
G |
A |
14: 76,351,661 (GRCm39) |
R172H |
probably damaging |
Het |
Nup210l |
A |
G |
3: 90,111,212 (GRCm39) |
T1705A |
probably benign |
Het |
Oaf |
G |
A |
9: 43,134,077 (GRCm39) |
R215C |
probably damaging |
Het |
Ogfr |
T |
C |
2: 180,234,226 (GRCm39) |
L99P |
probably damaging |
Het |
Or10am5 |
T |
C |
7: 6,517,861 (GRCm39) |
D189G |
probably damaging |
Het |
Or51a43 |
T |
A |
7: 103,717,302 (GRCm39) |
N312I |
probably benign |
Het |
Pcare |
T |
C |
17: 72,056,188 (GRCm39) |
D1163G |
probably benign |
Het |
Pcdh18 |
A |
T |
3: 49,710,446 (GRCm39) |
S290T |
possibly damaging |
Het |
Pklr |
T |
G |
3: 89,050,285 (GRCm39) |
I378S |
possibly damaging |
Het |
Rbm12 |
A |
T |
2: 155,938,136 (GRCm39) |
M712K |
probably benign |
Het |
Rnase10 |
T |
C |
14: 51,246,970 (GRCm39) |
V116A |
possibly damaging |
Het |
Scube3 |
T |
C |
17: 28,384,569 (GRCm39) |
L621P |
probably benign |
Het |
Slc35e1 |
T |
C |
8: 73,246,280 (GRCm39) |
I51V |
probably benign |
Het |
Smcr8 |
A |
G |
11: 60,670,750 (GRCm39) |
T633A |
probably benign |
Het |
St18 |
T |
C |
1: 6,927,669 (GRCm39) |
|
probably null |
Het |
Tm9sf4 |
T |
A |
2: 153,044,275 (GRCm39) |
I509N |
probably damaging |
Het |
Tmcc2 |
T |
C |
1: 132,288,359 (GRCm39) |
K443E |
probably damaging |
Het |
Tmem98 |
T |
G |
11: 80,710,758 (GRCm39) |
V139G |
probably damaging |
Het |
Trgv5 |
G |
A |
13: 19,376,849 (GRCm39) |
V99I |
probably damaging |
Het |
Ttll1 |
T |
C |
15: 83,381,573 (GRCm39) |
E232G |
probably damaging |
Het |
Zfp442 |
T |
C |
2: 150,253,146 (GRCm39) |
N39D |
possibly damaging |
Het |
|
Other mutations in Aldh1l2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01152:Aldh1l2
|
APN |
10 |
83,358,750 (GRCm39) |
nonsense |
probably null |
|
IGL01154:Aldh1l2
|
APN |
10 |
83,356,237 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01301:Aldh1l2
|
APN |
10 |
83,358,710 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01354:Aldh1l2
|
APN |
10 |
83,363,240 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01364:Aldh1l2
|
APN |
10 |
83,328,531 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01445:Aldh1l2
|
APN |
10 |
83,356,126 (GRCm39) |
splice site |
probably benign |
|
IGL02179:Aldh1l2
|
APN |
10 |
83,358,701 (GRCm39) |
missense |
probably benign |
0.10 |
IGL02283:Aldh1l2
|
APN |
10 |
83,331,759 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02507:Aldh1l2
|
APN |
10 |
83,328,448 (GRCm39) |
nonsense |
probably null |
|
IGL02727:Aldh1l2
|
APN |
10 |
83,342,469 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03353:Aldh1l2
|
APN |
10 |
83,358,777 (GRCm39) |
missense |
probably benign |
0.17 |
Hunger_winter
|
UTSW |
10 |
83,343,877 (GRCm39) |
critical splice donor site |
probably null |
|
Spartan
|
UTSW |
10 |
83,348,170 (GRCm39) |
missense |
possibly damaging |
0.93 |
ANU18:Aldh1l2
|
UTSW |
10 |
83,358,710 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02984:Aldh1l2
|
UTSW |
10 |
83,363,199 (GRCm39) |
missense |
probably damaging |
1.00 |
R0267:Aldh1l2
|
UTSW |
10 |
83,358,551 (GRCm39) |
splice site |
probably benign |
|
R0302:Aldh1l2
|
UTSW |
10 |
83,356,229 (GRCm39) |
missense |
probably damaging |
1.00 |
R0349:Aldh1l2
|
UTSW |
10 |
83,326,478 (GRCm39) |
missense |
probably damaging |
1.00 |
R0468:Aldh1l2
|
UTSW |
10 |
83,354,542 (GRCm39) |
missense |
probably benign |
0.01 |
R0745:Aldh1l2
|
UTSW |
10 |
83,354,494 (GRCm39) |
splice site |
probably null |
|
R0788:Aldh1l2
|
UTSW |
10 |
83,352,028 (GRCm39) |
missense |
probably damaging |
1.00 |
R1117:Aldh1l2
|
UTSW |
10 |
83,344,487 (GRCm39) |
missense |
probably benign |
0.01 |
R1241:Aldh1l2
|
UTSW |
10 |
83,331,889 (GRCm39) |
missense |
probably benign |
0.00 |
R1420:Aldh1l2
|
UTSW |
10 |
83,331,799 (GRCm39) |
missense |
probably damaging |
1.00 |
R1490:Aldh1l2
|
UTSW |
10 |
83,356,234 (GRCm39) |
missense |
probably damaging |
1.00 |
R1704:Aldh1l2
|
UTSW |
10 |
83,344,524 (GRCm39) |
missense |
probably benign |
0.10 |
R1729:Aldh1l2
|
UTSW |
10 |
83,343,946 (GRCm39) |
nonsense |
probably null |
|
R1893:Aldh1l2
|
UTSW |
10 |
83,328,400 (GRCm39) |
missense |
probably damaging |
1.00 |
R1897:Aldh1l2
|
UTSW |
10 |
83,338,389 (GRCm39) |
missense |
probably damaging |
1.00 |
R2047:Aldh1l2
|
UTSW |
10 |
83,342,607 (GRCm39) |
missense |
probably damaging |
1.00 |
R2290:Aldh1l2
|
UTSW |
10 |
83,363,177 (GRCm39) |
missense |
probably damaging |
1.00 |
R3054:Aldh1l2
|
UTSW |
10 |
83,338,336 (GRCm39) |
missense |
probably benign |
0.14 |
R3055:Aldh1l2
|
UTSW |
10 |
83,338,336 (GRCm39) |
missense |
probably benign |
0.14 |
R4097:Aldh1l2
|
UTSW |
10 |
83,348,228 (GRCm39) |
missense |
probably damaging |
0.98 |
R4162:Aldh1l2
|
UTSW |
10 |
83,342,518 (GRCm39) |
missense |
possibly damaging |
0.50 |
R4295:Aldh1l2
|
UTSW |
10 |
83,331,784 (GRCm39) |
missense |
possibly damaging |
0.62 |
R4296:Aldh1l2
|
UTSW |
10 |
83,358,641 (GRCm39) |
missense |
probably benign |
0.34 |
R4388:Aldh1l2
|
UTSW |
10 |
83,349,486 (GRCm39) |
missense |
probably damaging |
1.00 |
R4809:Aldh1l2
|
UTSW |
10 |
83,342,496 (GRCm39) |
missense |
probably damaging |
1.00 |
R5052:Aldh1l2
|
UTSW |
10 |
83,344,556 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5421:Aldh1l2
|
UTSW |
10 |
83,363,271 (GRCm39) |
missense |
probably damaging |
1.00 |
R5491:Aldh1l2
|
UTSW |
10 |
83,358,649 (GRCm39) |
missense |
probably benign |
0.00 |
R5688:Aldh1l2
|
UTSW |
10 |
83,337,789 (GRCm39) |
missense |
possibly damaging |
0.93 |
R5726:Aldh1l2
|
UTSW |
10 |
83,348,170 (GRCm39) |
missense |
possibly damaging |
0.93 |
R5737:Aldh1l2
|
UTSW |
10 |
83,356,189 (GRCm39) |
missense |
probably damaging |
1.00 |
R5752:Aldh1l2
|
UTSW |
10 |
83,356,244 (GRCm39) |
missense |
probably damaging |
1.00 |
R6113:Aldh1l2
|
UTSW |
10 |
83,343,998 (GRCm39) |
nonsense |
probably null |
|
R6161:Aldh1l2
|
UTSW |
10 |
83,356,202 (GRCm39) |
missense |
probably benign |
0.00 |
R6166:Aldh1l2
|
UTSW |
10 |
83,329,288 (GRCm39) |
splice site |
probably null |
|
R6189:Aldh1l2
|
UTSW |
10 |
83,343,877 (GRCm39) |
critical splice donor site |
probably null |
|
R7357:Aldh1l2
|
UTSW |
10 |
83,350,408 (GRCm39) |
missense |
possibly damaging |
0.89 |
R7394:Aldh1l2
|
UTSW |
10 |
83,338,321 (GRCm39) |
missense |
probably damaging |
1.00 |
R7469:Aldh1l2
|
UTSW |
10 |
83,343,969 (GRCm39) |
missense |
probably damaging |
1.00 |
R7676:Aldh1l2
|
UTSW |
10 |
83,343,975 (GRCm39) |
missense |
probably benign |
|
R7958:Aldh1l2
|
UTSW |
10 |
83,356,202 (GRCm39) |
missense |
probably benign |
0.00 |
R8311:Aldh1l2
|
UTSW |
10 |
83,326,479 (GRCm39) |
missense |
probably damaging |
1.00 |
R8477:Aldh1l2
|
UTSW |
10 |
83,337,785 (GRCm39) |
missense |
probably damaging |
1.00 |
R8730:Aldh1l2
|
UTSW |
10 |
83,342,506 (GRCm39) |
missense |
possibly damaging |
0.94 |
R8884:Aldh1l2
|
UTSW |
10 |
83,344,541 (GRCm39) |
missense |
probably benign |
0.02 |
R9117:Aldh1l2
|
UTSW |
10 |
83,342,545 (GRCm39) |
missense |
probably benign |
0.41 |
R9239:Aldh1l2
|
UTSW |
10 |
83,342,496 (GRCm39) |
missense |
probably damaging |
1.00 |
R9335:Aldh1l2
|
UTSW |
10 |
83,342,510 (GRCm39) |
missense |
probably damaging |
0.96 |
R9368:Aldh1l2
|
UTSW |
10 |
83,331,816 (GRCm39) |
nonsense |
probably null |
|
R9784:Aldh1l2
|
UTSW |
10 |
83,342,614 (GRCm39) |
critical splice acceptor site |
probably null |
|
Z1177:Aldh1l2
|
UTSW |
10 |
83,369,869 (GRCm39) |
missense |
probably benign |
|
Z1177:Aldh1l2
|
UTSW |
10 |
83,329,344 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TGGATTTCTGAGTTCAAGGCCA -3'
(R):5'- CAGTGAGGAGGGAGGGGAAG -3'
Sequencing Primer
(F):5'- CTACAGAGTGAGTTCCAGGAC -3'
(R):5'- TGGTAGTGGTGAGGGGAAAGTG -3'
|
Posted On |
2019-12-20 |