Incidental Mutation 'R1420:Aldh1l2'
| ID |
160060 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aldh1l2
|
| Ensembl Gene |
ENSMUSG00000020256 |
| Gene Name |
aldehyde dehydrogenase 1 family, member L2 |
| Synonyms |
D330038I09Rik |
| MMRRC Submission |
039476-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1420 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
83323314-83370004 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 83331799 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 669
(Y669H)
|
| 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: Y782H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000020497
Gene: ENSMUSG00000020256
AA Change: Y782H
| 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 |
noncoding transcript
Transcript: ENSMUST00000141184
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143793
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000146640
AA Change: Y669H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000117076
Gene: ENSMUSG00000020256
AA Change: Y669H
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147381
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.6%
- 20x: 90.6%
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Amotl2 |
A |
T |
9: 102,601,982 (GRCm39) |
M409L |
possibly damaging |
Het |
| Ankrd35 |
A |
G |
3: 96,592,054 (GRCm39) |
E780G |
probably benign |
Het |
| Brwd1 |
T |
C |
16: 95,837,234 (GRCm39) |
Y866C |
probably damaging |
Het |
| Cul4b |
G |
C |
X: 37,653,918 (GRCm39) |
|
probably null |
Het |
| Daw1 |
A |
T |
1: 83,137,548 (GRCm39) |
Y10F |
possibly damaging |
Het |
| Dgki |
A |
T |
6: 37,027,204 (GRCm39) |
|
probably null |
Het |
| Dnah3 |
A |
T |
7: 119,551,202 (GRCm39) |
V3039E |
probably damaging |
Het |
| Ercc4 |
C |
T |
16: 12,948,073 (GRCm39) |
T340I |
probably benign |
Het |
| Fam83b |
T |
C |
9: 76,399,894 (GRCm39) |
N403S |
possibly damaging |
Het |
| Fbh1 |
A |
G |
2: 11,772,493 (GRCm39) |
F63L |
probably benign |
Het |
| Foxm1 |
G |
A |
6: 128,349,884 (GRCm39) |
R395H |
possibly damaging |
Het |
| Gtpbp4 |
C |
T |
13: 9,023,298 (GRCm39) |
A589T |
probably benign |
Het |
| Ifna7 |
C |
A |
4: 88,734,906 (GRCm39) |
H148N |
probably damaging |
Het |
| Il23r |
T |
C |
6: 67,463,181 (GRCm39) |
Y104C |
probably damaging |
Het |
| Il31ra |
A |
T |
13: 112,668,286 (GRCm39) |
W347R |
probably damaging |
Het |
| Ints7 |
T |
G |
1: 191,345,169 (GRCm39) |
F620V |
possibly damaging |
Het |
| Iqcd |
T |
C |
5: 120,738,860 (GRCm39) |
L226P |
probably damaging |
Het |
| Jak3 |
G |
T |
8: 72,134,182 (GRCm39) |
R428L |
possibly damaging |
Het |
| Kif28 |
C |
A |
1: 179,529,962 (GRCm39) |
C733F |
probably damaging |
Het |
| Klkb1 |
C |
A |
8: 45,729,183 (GRCm39) |
C347F |
probably damaging |
Het |
| Ksr2 |
A |
G |
5: 117,552,904 (GRCm39) |
E4G |
probably benign |
Het |
| Lama1 |
T |
C |
17: 68,097,942 (GRCm39) |
L1774P |
probably damaging |
Het |
| Lrriq3 |
A |
G |
3: 154,893,349 (GRCm39) |
E350G |
probably benign |
Het |
| Nav3 |
G |
A |
10: 109,659,115 (GRCm39) |
A834V |
probably benign |
Het |
| Ncoa6 |
G |
A |
2: 155,263,073 (GRCm39) |
Q454* |
probably null |
Het |
| Nfatc2 |
C |
A |
2: 168,346,585 (GRCm39) |
M836I |
probably benign |
Het |
| Nphp3 |
G |
T |
9: 103,913,092 (GRCm39) |
|
probably null |
Het |
| Olfml2b |
C |
T |
1: 170,496,596 (GRCm39) |
T409M |
probably benign |
Het |
| Oprk1 |
A |
G |
1: 5,672,544 (GRCm39) |
K227R |
probably damaging |
Het |
| Or8g35 |
A |
T |
9: 39,381,289 (GRCm39) |
H244Q |
probably damaging |
Het |
| Pate1 |
A |
T |
9: 35,596,505 (GRCm39) |
W87R |
probably damaging |
Het |
| Pcnx4 |
T |
C |
12: 72,602,760 (GRCm39) |
Y341H |
probably benign |
Het |
| Pde4c |
T |
A |
8: 71,201,066 (GRCm39) |
H421Q |
probably damaging |
Het |
| Pglyrp4 |
T |
C |
3: 90,636,021 (GRCm39) |
V82A |
probably damaging |
Het |
| Pnmt |
G |
T |
11: 98,278,502 (GRCm39) |
R156L |
probably benign |
Het |
| Prdm9 |
C |
A |
17: 15,764,638 (GRCm39) |
C714F |
probably damaging |
Het |
| Pwp1 |
T |
C |
10: 85,712,402 (GRCm39) |
V80A |
probably damaging |
Het |
| Pxdn |
T |
C |
12: 30,052,067 (GRCm39) |
L568P |
probably damaging |
Het |
| Rasgrp4 |
C |
A |
7: 28,839,770 (GRCm39) |
Q161K |
probably damaging |
Het |
| Rnf138 |
A |
G |
18: 21,159,159 (GRCm39) |
E193G |
probably damaging |
Het |
| Slc16a6 |
A |
G |
11: 109,345,772 (GRCm39) |
V413A |
probably damaging |
Het |
| Slc7a15 |
T |
C |
12: 8,584,442 (GRCm39) |
T363A |
probably benign |
Het |
| Sufu |
T |
C |
19: 46,385,623 (GRCm39) |
S28P |
probably benign |
Het |
| Tex19.1 |
T |
C |
11: 121,037,872 (GRCm39) |
S77P |
probably damaging |
Het |
| Tmc7 |
A |
T |
7: 118,165,440 (GRCm39) |
Y91* |
probably null |
Het |
| Ttbk2 |
C |
G |
2: 120,576,393 (GRCm39) |
R792S |
probably benign |
Het |
| Tyw1 |
T |
C |
5: 130,303,586 (GRCm39) |
|
probably null |
Het |
| U2surp |
A |
G |
9: 95,344,856 (GRCm39) |
S907P |
probably benign |
Het |
| Vmn2r115 |
ATCTTCT |
ATCT |
17: 23,578,962 (GRCm39) |
|
probably benign |
Het |
| Vps50 |
T |
A |
6: 3,588,007 (GRCm39) |
L660* |
probably null |
Het |
| Wdr55 |
A |
G |
18: 36,893,392 (GRCm39) |
E18G |
probably benign |
Het |
| Wipi1 |
A |
G |
11: 109,469,198 (GRCm39) |
V331A |
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 |
|
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 |
|
|
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'- GAAACAGAAGGGGCTGCCATCCA -3'
(R):5'- GCTATCCCCTAAGACTCTCCGAAAGAA -3'
Sequencing Primer
(F):5'- GGCTGCCATCCATTCCAG -3'
(R):5'- tccaggacagccagagag -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation