Incidental Mutation 'R7394:Aldh1l2'
| ID |
573676 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aldh1l2
|
| Ensembl Gene |
ENSMUSG00000020256 |
| Gene Name |
aldehyde dehydrogenase 1 family, member L2 |
| Synonyms |
D330038I09Rik |
| MMRRC Submission |
045476-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7394 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
83323314-83370004 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 83338321 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 646
(I646F)
|
| 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: I646F
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000020497
Gene: ENSMUSG00000020256
AA Change: I646F
| 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: I533F
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000117076
Gene: ENSMUSG00000020256
AA Change: I533F
| 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 |
0.6868 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
99% (66/67) |
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017N19Rik |
A |
G |
10: 100,445,038 (GRCm39) |
I208V |
probably benign |
Het |
| Abcb11 |
C |
T |
2: 69,130,211 (GRCm39) |
D282N |
probably damaging |
Het |
| Alms1 |
C |
T |
6: 85,599,205 (GRCm39) |
P1344S |
possibly damaging |
Het |
| Ank2 |
T |
A |
3: 126,730,302 (GRCm39) |
I711L |
possibly damaging |
Het |
| Ankrd6 |
T |
C |
4: 32,821,298 (GRCm39) |
N251D |
probably damaging |
Het |
| Ap3m1 |
T |
C |
14: 21,088,147 (GRCm39) |
T304A |
probably benign |
Het |
| Arhgef39 |
T |
C |
4: 43,499,532 (GRCm39) |
T26A |
possibly damaging |
Het |
| Carnmt1 |
G |
T |
19: 18,648,201 (GRCm39) |
|
probably benign |
Het |
| Ccr4 |
C |
T |
9: 114,320,994 (GRCm39) |
R357H |
probably benign |
Het |
| Cd4 |
T |
A |
6: 124,850,004 (GRCm39) |
M104L |
probably benign |
Het |
| Cd74 |
A |
T |
18: 60,936,965 (GRCm39) |
|
probably benign |
Het |
| Cdcp1 |
T |
C |
9: 123,002,878 (GRCm39) |
Y731C |
probably damaging |
Het |
| Cdyl2 |
A |
G |
8: 117,350,790 (GRCm39) |
S114P |
not run |
Het |
| Cenpv |
T |
C |
11: 62,427,114 (GRCm39) |
D148G |
probably damaging |
Het |
| Cep89 |
G |
A |
7: 35,129,353 (GRCm39) |
R630H |
probably damaging |
Het |
| Cfap57 |
T |
A |
4: 118,450,334 (GRCm39) |
Y596F |
probably benign |
Het |
| Clec4a2 |
C |
A |
6: 123,116,079 (GRCm39) |
A122E |
unknown |
Het |
| Col4a2 |
A |
G |
8: 11,496,184 (GRCm39) |
T1602A |
probably benign |
Het |
| Cracd |
GCGCGAGGCCGAGAGGCAGGAGGAGGAAGCAAGACAACGCGAGGCCGAGAGGCAGG |
GCGCGAGGCCGAGAGGCAGG |
5: 77,004,801 (GRCm39) |
|
probably benign |
Het |
| Cyp2j11 |
A |
T |
4: 96,204,677 (GRCm39) |
Y290N |
probably benign |
Het |
| Dhx38 |
A |
T |
8: 110,283,155 (GRCm39) |
V554E |
probably damaging |
Het |
| Ebf2 |
T |
C |
14: 67,474,975 (GRCm39) |
V70A |
probably damaging |
Het |
| Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
| Fam217a |
A |
T |
13: 35,094,262 (GRCm39) |
I499K |
possibly damaging |
Het |
| Fras1 |
C |
A |
5: 96,860,309 (GRCm39) |
Y2118* |
probably null |
Het |
| Gm3248 |
A |
T |
14: 5,945,781 (GRCm38) |
|
probably null |
Het |
| Gm5460 |
T |
G |
14: 33,765,879 (GRCm39) |
D165E |
possibly damaging |
Het |
| Grk4 |
A |
T |
5: 34,908,962 (GRCm39) |
N490Y |
probably benign |
Het |
| Iglc2 |
T |
A |
16: 19,013,886 (GRCm39) |
K59* |
probably null |
Het |
| Iqsec3 |
T |
A |
6: 121,363,569 (GRCm39) |
H895L |
possibly damaging |
Het |
| Itgb7 |
A |
G |
15: 102,127,689 (GRCm39) |
S410P |
probably damaging |
Het |
| Kmt2d |
C |
A |
15: 98,754,265 (GRCm39) |
V1613F |
unknown |
Het |
| Lama1 |
T |
C |
17: 68,024,256 (GRCm39) |
L118P |
|
Het |
| Lrrc25 |
A |
T |
8: 71,070,830 (GRCm39) |
S204C |
possibly damaging |
Het |
| Malrd1 |
A |
G |
2: 15,700,010 (GRCm39) |
D619G |
unknown |
Het |
| Ms4a6d |
G |
A |
19: 11,567,437 (GRCm39) |
Q155* |
probably null |
Het |
| Mup17 |
G |
A |
4: 61,512,635 (GRCm39) |
S86F |
probably benign |
Het |
| Nbeal2 |
C |
T |
9: 110,459,257 (GRCm39) |
|
probably null |
Het |
| Nfkb1 |
A |
C |
3: 135,319,458 (GRCm39) |
V291G |
possibly damaging |
Het |
| Nomo1 |
G |
T |
7: 45,715,903 (GRCm39) |
V757F |
probably benign |
Het |
| Nutm2 |
T |
A |
13: 50,624,043 (GRCm39) |
S247T |
probably damaging |
Het |
| Or2at1 |
C |
A |
7: 99,416,553 (GRCm39) |
H61Q |
probably damaging |
Het |
| Or4c120 |
C |
T |
2: 89,000,705 (GRCm39) |
V284I |
probably benign |
Het |
| Or4f4-ps1 |
G |
T |
2: 111,330,241 (GRCm39) |
A215S |
probably damaging |
Het |
| Or7g12 |
T |
A |
9: 18,900,006 (GRCm39) |
C241S |
probably damaging |
Het |
| Or9k2b |
T |
A |
10: 130,016,123 (GRCm39) |
I209F |
probably damaging |
Het |
| Pcdhb14 |
A |
G |
18: 37,581,961 (GRCm39) |
I356V |
probably benign |
Het |
| Pnkp |
T |
A |
7: 44,508,102 (GRCm39) |
S142T |
probably damaging |
Het |
| Ppia |
T |
C |
11: 6,369,218 (GRCm39) |
S99P |
possibly damaging |
Het |
| Prss47 |
C |
T |
13: 65,192,807 (GRCm39) |
V325I |
probably benign |
Het |
| Ptgr3 |
C |
T |
18: 84,106,315 (GRCm39) |
A9V |
probably benign |
Het |
| Ptk7 |
T |
C |
17: 46,902,683 (GRCm39) |
D34G |
probably damaging |
Het |
| Pwp2 |
C |
T |
10: 78,018,314 (GRCm39) |
G126R |
probably damaging |
Het |
| Rasa3 |
G |
T |
8: 13,645,353 (GRCm39) |
D195E |
probably benign |
Het |
| Rnf150 |
T |
A |
8: 83,717,100 (GRCm39) |
Y202* |
probably null |
Het |
| Sh2d1b2 |
T |
C |
1: 170,075,716 (GRCm39) |
V50A |
probably damaging |
Het |
| Slc30a4 |
C |
T |
2: 122,527,224 (GRCm39) |
V390I |
possibly damaging |
Het |
| Slc30a9 |
G |
T |
5: 67,510,109 (GRCm39) |
|
probably null |
Het |
| Slc8a3 |
T |
A |
12: 81,260,832 (GRCm39) |
|
probably null |
Het |
| Smpd3 |
G |
A |
8: 106,991,642 (GRCm39) |
R304W |
probably damaging |
Het |
| Snta1 |
A |
G |
2: 154,218,780 (GRCm39) |
S490P |
probably damaging |
Het |
| Srcap |
T |
G |
7: 127,134,000 (GRCm39) |
M887R |
probably damaging |
Het |
| St3gal1 |
A |
G |
15: 66,983,195 (GRCm39) |
V187A |
possibly damaging |
Het |
| Sult2a3 |
T |
C |
7: 13,845,449 (GRCm39) |
T137A |
probably benign |
Het |
| Tspoap1 |
C |
T |
11: 87,656,945 (GRCm39) |
Q367* |
probably null |
Het |
| Uroc1 |
C |
T |
6: 90,322,315 (GRCm39) |
R280C |
probably damaging |
Het |
| Ush2a |
T |
C |
1: 188,643,613 (GRCm39) |
I4325T |
possibly damaging |
Het |
| Vmn1r32 |
A |
G |
6: 66,530,173 (GRCm39) |
I201T |
probably benign |
Het |
| Zbtb47 |
T |
A |
9: 121,596,411 (GRCm39) |
M626K |
probably 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 |
|
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'- GTTTTACAATGCTATACAACCCCTC -3'
(R):5'- ATGCACCTCCCTCGAACATG -3'
Sequencing Primer
(F):5'- ATGCTATACAACCCCTCCCTTATAC -3'
(R):5'- TGCACCATACCCACAAATGAGTG -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation