Incidental Mutation 'R7469:Aldh1l2'
| ID |
579041 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aldh1l2
|
| Ensembl Gene |
ENSMUSG00000020256 |
| Gene Name |
aldehyde dehydrogenase 1 family, member L2 |
| Synonyms |
D330038I09Rik |
| MMRRC Submission |
045543-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7469 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
83323314-83370004 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 83343969 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glycine
at position 482
(V482G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020497
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020497]
[ENSMUST00000146640]
|
| AlphaFold |
Q8K009 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020497
AA Change: V482G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000020497
Gene: ENSMUSG00000020256
AA Change: V482G
| 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 damaging
Transcript: ENSMUST00000146640
AA Change: V369G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000117076
Gene: ENSMUSG00000020256
AA Change: V369G
| 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 |
|
| Meta Mutation Damage Score |
0.8199 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
97% (77/79) |
| 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: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc3 |
A |
G |
11: 94,259,014 (GRCm39) |
L443P |
probably damaging |
Het |
| Abtb2 |
T |
C |
2: 103,397,292 (GRCm39) |
V74A |
probably benign |
Het |
| Adam5 |
A |
T |
8: 25,305,541 (GRCm39) |
F66I |
probably benign |
Het |
| Aff1 |
T |
A |
5: 103,981,413 (GRCm39) |
D517E |
probably benign |
Het |
| Agbl3 |
A |
G |
6: 34,791,349 (GRCm39) |
K559R |
probably damaging |
Het |
| Ankra2 |
C |
T |
13: 98,402,882 (GRCm39) |
A43V |
probably benign |
Het |
| Ankrd50 |
C |
A |
3: 38,508,342 (GRCm39) |
V419F |
probably damaging |
Het |
| Arhgef16 |
G |
A |
4: 154,375,763 (GRCm39) |
T77M |
probably damaging |
Het |
| Best3 |
T |
C |
10: 116,840,290 (GRCm39) |
V240A |
probably damaging |
Het |
| Btbd7 |
T |
C |
12: 102,779,027 (GRCm39) |
Y413C |
probably damaging |
Het |
| Bzw2 |
A |
T |
12: 36,157,550 (GRCm39) |
V305E |
probably damaging |
Het |
| Cacng8 |
G |
A |
7: 3,463,621 (GRCm39) |
A258T |
possibly damaging |
Het |
| Cfap157 |
T |
C |
2: 32,670,696 (GRCm39) |
Y184C |
probably damaging |
Het |
| Chmp3 |
T |
A |
6: 71,556,652 (GRCm39) |
V184E |
possibly damaging |
Het |
| Cst5 |
C |
T |
2: 149,247,496 (GRCm39) |
L71F |
probably benign |
Het |
| Ctdspl2 |
A |
T |
2: 121,837,362 (GRCm39) |
E376D |
possibly damaging |
Het |
| Cyfip1 |
A |
G |
7: 55,527,468 (GRCm39) |
D200G |
possibly damaging |
Het |
| Cylc2 |
T |
A |
4: 51,227,970 (GRCm39) |
|
probably null |
Het |
| Cyp2c66 |
T |
A |
19: 39,172,307 (GRCm39) |
F407L |
probably damaging |
Het |
| Dcp2 |
T |
C |
18: 44,529,019 (GRCm39) |
F45L |
probably damaging |
Het |
| Dhx34 |
C |
T |
7: 15,950,364 (GRCm39) |
R268H |
probably benign |
Het |
| Dnajc7 |
A |
T |
11: 100,482,377 (GRCm39) |
M205K |
probably benign |
Het |
| Dzip3 |
C |
T |
16: 48,765,242 (GRCm39) |
V491M |
probably benign |
Het |
| Farp1 |
T |
C |
14: 121,512,833 (GRCm39) |
L777P |
probably damaging |
Het |
| Fchsd2 |
T |
G |
7: 100,927,863 (GRCm39) |
|
probably null |
Het |
| Fer1l6 |
A |
T |
15: 58,462,419 (GRCm39) |
|
probably null |
Het |
| Fhip1a |
T |
C |
3: 85,580,069 (GRCm39) |
D712G |
probably benign |
Het |
| Fitm2 |
A |
G |
2: 163,311,742 (GRCm39) |
F157S |
probably damaging |
Het |
| Flt1 |
G |
T |
5: 147,540,379 (GRCm39) |
A770E |
probably damaging |
Het |
| Flt3 |
T |
A |
5: 147,268,084 (GRCm39) |
E967V |
probably benign |
Het |
| Foxc1 |
G |
C |
13: 31,992,361 (GRCm39) |
A391P |
unknown |
Het |
| Foxc1 |
C |
T |
13: 31,992,362 (GRCm39) |
A391V |
unknown |
Het |
| Gimap6 |
T |
A |
6: 48,679,392 (GRCm39) |
T215S |
probably benign |
Het |
| Gm2431 |
A |
T |
7: 141,811,518 (GRCm39) |
C129S |
unknown |
Het |
| Itpr3 |
T |
C |
17: 27,340,028 (GRCm39) |
S2636P |
possibly damaging |
Het |
| Lsg1 |
A |
G |
16: 30,380,635 (GRCm39) |
Y601H |
probably benign |
Het |
| Map4 |
G |
T |
9: 109,856,865 (GRCm39) |
|
probably null |
Het |
| Mga |
T |
C |
2: 119,733,527 (GRCm39) |
M125T |
probably damaging |
Het |
| Mxi1 |
A |
G |
19: 53,360,091 (GRCm39) |
D271G |
probably damaging |
Het |
| Ndst3 |
T |
A |
3: 123,465,310 (GRCm39) |
T221S |
possibly damaging |
Het |
| Neto1 |
T |
A |
18: 86,516,813 (GRCm39) |
S377T |
probably benign |
Het |
| Nkx6-2 |
T |
C |
7: 139,161,555 (GRCm39) |
E210G |
probably damaging |
Het |
| Nos2 |
G |
T |
11: 78,843,797 (GRCm39) |
V915F |
possibly damaging |
Het |
| Nrros |
G |
A |
16: 31,963,030 (GRCm39) |
A329V |
probably benign |
Het |
| Numb |
T |
C |
12: 83,850,578 (GRCm39) |
K211E |
probably benign |
Het |
| Nup210 |
T |
A |
6: 90,995,874 (GRCm39) |
I1671F |
probably benign |
Het |
| Or12j3 |
G |
A |
7: 139,953,050 (GRCm39) |
L158F |
possibly damaging |
Het |
| Or4c106 |
T |
A |
2: 88,682,847 (GRCm39) |
D184E |
probably benign |
Het |
| Or4c31 |
T |
A |
2: 88,291,691 (GRCm39) |
H2Q |
probably benign |
Het |
| Pcdh15 |
A |
T |
10: 74,481,812 (GRCm39) |
M386L |
probably benign |
Het |
| Pcdhb3 |
C |
A |
18: 37,434,388 (GRCm39) |
T118K |
probably benign |
Het |
| Pcdhb8 |
A |
T |
18: 37,489,011 (GRCm39) |
I230F |
probably damaging |
Het |
| Peli2 |
G |
A |
14: 48,488,015 (GRCm39) |
V120I |
probably benign |
Het |
| Pramel15 |
T |
A |
4: 144,099,673 (GRCm39) |
Q364L |
probably damaging |
Het |
| Pramel7 |
T |
A |
2: 87,321,748 (GRCm39) |
M96L |
probably benign |
Het |
| Prex2 |
T |
A |
1: 11,355,293 (GRCm39) |
S1531R |
probably damaging |
Het |
| Prpf31 |
A |
G |
7: 3,636,392 (GRCm39) |
T138A |
possibly damaging |
Het |
| Psme4 |
C |
T |
11: 30,752,837 (GRCm39) |
T175I |
probably benign |
Het |
| Rasgrf2 |
A |
G |
13: 92,165,530 (GRCm39) |
|
probably null |
Het |
| Rps19 |
T |
A |
7: 24,589,190 (GRCm39) |
*146K |
probably null |
Het |
| Rsu1 |
T |
C |
2: 13,082,371 (GRCm39) |
N260S |
probably benign |
Het |
| Serpina3k |
T |
C |
12: 104,311,594 (GRCm39) |
C391R |
not run |
Het |
| Sipa1l1 |
T |
G |
12: 82,467,438 (GRCm39) |
|
probably null |
Het |
| Snd1 |
T |
A |
6: 28,626,126 (GRCm39) |
Y394N |
probably damaging |
Het |
| Spaca4 |
A |
T |
7: 45,374,831 (GRCm39) |
V57E |
probably damaging |
Het |
| Spata31d1b |
A |
G |
13: 59,863,278 (GRCm39) |
Y142C |
probably benign |
Het |
| Sptbn2 |
A |
G |
19: 4,795,146 (GRCm39) |
K1535E |
probably benign |
Het |
| Srcin1 |
A |
G |
11: 97,425,435 (GRCm39) |
S541P |
probably damaging |
Het |
| Tc2n |
A |
T |
12: 101,631,934 (GRCm39) |
F308I |
probably damaging |
Het |
| Tdrd5 |
T |
C |
1: 156,090,475 (GRCm39) |
D857G |
probably benign |
Het |
| Timm22 |
A |
G |
11: 76,298,134 (GRCm39) |
D35G |
probably benign |
Het |
| Tram1l1 |
C |
A |
3: 124,114,889 (GRCm39) |
H16Q |
probably benign |
Het |
| Uggt1 |
T |
C |
1: 36,190,814 (GRCm39) |
Y1382C |
probably damaging |
Het |
| Usp32 |
G |
T |
11: 84,879,379 (GRCm39) |
D1443E |
possibly damaging |
Het |
| Uty |
A |
T |
Y: 1,131,072 (GRCm39) |
C1046S |
possibly damaging |
Het |
| Wdr31 |
T |
A |
4: 62,375,768 (GRCm39) |
Q230L |
probably damaging |
Het |
| Wnt8b |
C |
A |
19: 44,500,001 (GRCm39) |
T196K |
possibly damaging |
Het |
| Xpo4 |
A |
T |
14: 57,835,436 (GRCm39) |
H628Q |
probably benign |
Het |
| Zfp780b |
C |
T |
7: 27,663,382 (GRCm39) |
S391N |
probably benign |
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 |
|
R7676:Aldh1l2
|
UTSW |
10 |
83,343,975 (GRCm39) |
missense |
probably benign |
|
|
R7848:Aldh1l2
|
UTSW |
10 |
83,335,707 (GRCm39) |
missense |
probably benign |
0.12 |
|
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'- ATGCACAGCTATGGACCTTG -3'
(R):5'- CCAAGATCAGGTTGTTTCCATG -3'
Sequencing Primer
(F):5'- ACAGCTATGGACCTTGCCTCC -3'
(R):5'- GTTCCCCATTTAATCTCAAGATGG -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation