Incidental Mutation 'R1490:Aldh1l2'
| ID |
163660 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aldh1l2
|
| Ensembl Gene |
ENSMUSG00000020256 |
| Gene Name |
aldehyde dehydrogenase 1 family, member L2 |
| Synonyms |
D330038I09Rik |
| MMRRC Submission |
039542-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1490 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
83323314-83370004 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 83356234 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 52
(T52I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117076
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020497]
[ENSMUST00000146640]
|
| AlphaFold |
Q8K009 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020497
AA Change: T165I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000020497
Gene: ENSMUSG00000020256
AA Change: T165I
| 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 |
noncoding transcript
Transcript: ENSMUST00000138858
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000146640
AA Change: T52I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000117076
Gene: ENSMUSG00000020256
AA Change: T52I
| 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: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.6%
|
| Validation Efficiency |
|
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef28 |
G |
A |
13: 98,114,952 (GRCm39) |
R633W |
probably damaging |
Het |
| Atg9a |
T |
C |
1: 75,162,389 (GRCm39) |
N507S |
possibly damaging |
Het |
| Bsn |
A |
G |
9: 107,991,193 (GRCm39) |
S1520P |
probably benign |
Het |
| Cacul1 |
G |
T |
19: 60,568,837 (GRCm39) |
A107E |
probably damaging |
Het |
| Cd74 |
A |
G |
18: 60,944,438 (GRCm39) |
D216G |
probably damaging |
Het |
| Cdh16 |
A |
T |
8: 105,348,702 (GRCm39) |
W109R |
probably damaging |
Het |
| Cdip1 |
C |
T |
16: 4,586,775 (GRCm39) |
V100I |
probably damaging |
Het |
| Ceacam3 |
A |
G |
7: 16,897,071 (GRCm39) |
D679G |
probably damaging |
Het |
| Comp |
A |
G |
8: 70,826,563 (GRCm39) |
D46G |
possibly damaging |
Het |
| Dlx3 |
T |
C |
11: 95,011,430 (GRCm39) |
Y95H |
probably benign |
Het |
| Dmrta2 |
T |
C |
4: 109,837,072 (GRCm39) |
S5P |
unknown |
Het |
| E130308A19Rik |
A |
G |
4: 59,719,746 (GRCm39) |
Y426C |
probably damaging |
Het |
| Entpd3 |
A |
G |
9: 120,383,225 (GRCm39) |
S87G |
probably benign |
Het |
| Eps8l1 |
A |
G |
7: 4,473,888 (GRCm39) |
R232G |
probably damaging |
Het |
| Gart |
A |
T |
16: 91,421,232 (GRCm39) |
V812D |
probably damaging |
Het |
| Gm10153 |
C |
T |
7: 141,743,879 (GRCm39) |
C83Y |
unknown |
Het |
| Gpd2 |
T |
C |
2: 57,245,487 (GRCm39) |
V394A |
probably damaging |
Het |
| Hpcal1 |
A |
T |
12: 17,836,225 (GRCm39) |
E18D |
probably benign |
Het |
| Mdga2 |
T |
C |
12: 66,844,530 (GRCm39) |
D156G |
probably benign |
Het |
| Mks1 |
A |
G |
11: 87,753,595 (GRCm39) |
K510E |
probably benign |
Het |
| Ms4a19 |
A |
G |
19: 11,118,902 (GRCm39) |
I69T |
probably benign |
Het |
| Mtmr4 |
G |
A |
11: 87,503,051 (GRCm39) |
R1035Q |
probably damaging |
Het |
| Myh6 |
T |
A |
14: 55,200,175 (GRCm39) |
K235* |
probably null |
Het |
| Nedd1 |
A |
G |
10: 92,536,660 (GRCm39) |
F214S |
probably damaging |
Het |
| Or1e32 |
A |
G |
11: 73,705,197 (GRCm39) |
V237A |
possibly damaging |
Het |
| Or1o3 |
A |
G |
17: 37,573,733 (GRCm39) |
M274T |
probably benign |
Het |
| Or2l13 |
T |
C |
16: 19,305,672 (GRCm39) |
M28T |
probably benign |
Het |
| Or52e15 |
A |
G |
7: 104,645,700 (GRCm39) |
I137T |
possibly damaging |
Het |
| Pfkfb2 |
A |
C |
1: 130,625,626 (GRCm39) |
|
probably null |
Het |
| Pfkfb4 |
T |
C |
9: 108,856,688 (GRCm39) |
L398P |
probably damaging |
Het |
| Pfn3 |
T |
G |
13: 55,562,732 (GRCm39) |
D83A |
probably damaging |
Het |
| Pi4ka |
C |
A |
16: 17,204,132 (GRCm39) |
W54L |
probably damaging |
Het |
| Ppp3r1 |
A |
G |
11: 17,148,275 (GRCm39) |
D161G |
probably benign |
Het |
| Prrc2a |
A |
G |
17: 35,372,230 (GRCm39) |
S1757P |
probably benign |
Het |
| Samd7 |
A |
G |
3: 30,812,502 (GRCm39) |
E314G |
probably benign |
Het |
| Slc17a4 |
A |
G |
13: 24,088,736 (GRCm39) |
I217T |
probably benign |
Het |
| Slc22a1 |
A |
T |
17: 12,881,780 (GRCm39) |
|
probably null |
Het |
| Slc7a7 |
C |
T |
14: 54,646,103 (GRCm39) |
R120H |
probably damaging |
Het |
| Sos1 |
A |
T |
17: 80,721,104 (GRCm39) |
H905Q |
probably benign |
Het |
| Thada |
G |
A |
17: 84,754,029 (GRCm39) |
T314I |
possibly damaging |
Het |
| Tirap |
ACTGCTGCTGCTGCTGCTG |
ACTGCTGCTGCTGCTG |
9: 35,100,362 (GRCm39) |
|
probably benign |
Het |
| Tlr11 |
A |
C |
14: 50,600,633 (GRCm39) |
H873P |
probably benign |
Het |
| Tlr4 |
A |
T |
4: 66,757,611 (GRCm39) |
T135S |
possibly damaging |
Het |
| Tmem116 |
T |
C |
5: 121,633,174 (GRCm39) |
S183P |
probably damaging |
Het |
| Tubgcp3 |
A |
T |
8: 12,689,550 (GRCm39) |
I572K |
probably damaging |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Ush2a |
C |
T |
1: 188,092,038 (GRCm39) |
T523I |
probably benign |
Het |
| Usp40 |
G |
A |
1: 87,916,687 (GRCm39) |
Q364* |
probably null |
Het |
| Vmn1r61 |
T |
C |
7: 5,614,242 (GRCm39) |
Q24R |
probably benign |
Het |
| Wdfy4 |
C |
A |
14: 32,874,495 (GRCm39) |
|
probably null |
Het |
| Zfp458 |
G |
A |
13: 67,405,573 (GRCm39) |
P286S |
probably damaging |
Het |
| Zfp68 |
A |
T |
5: 138,605,091 (GRCm39) |
C373S |
probably benign |
Het |
| Zfp768 |
T |
A |
7: 126,942,803 (GRCm39) |
I442F |
probably damaging |
Het |
| Zfp990 |
A |
G |
4: 145,263,853 (GRCm39) |
R284G |
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 |
|
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 |
|
|
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'- ATTACAGCCATGTGCCACCATGCC -3'
(R):5'- ACGCTGATAACCCTGAGTTCTGCC -3'
Sequencing Primer
(F):5'- CCACCATGCCTGGCTTG -3'
(R):5'- TGAGTTCTGCCAGGAACATC -3'
|
| Posted On |
2014-03-28 |
Incidental Mutation