Incidental Mutation 'R6161:Aldh1l2'
| ID |
489879 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aldh1l2
|
| Ensembl Gene |
ENSMUSG00000020256 |
| Gene Name |
aldehyde dehydrogenase 1 family, member L2 |
| Synonyms |
D330038I09Rik |
| MMRRC Submission |
044308-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6161 (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 83356202 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 63
(V63I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117076
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020497]
[ENSMUST00000146640]
|
| AlphaFold |
Q8K009 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020497
AA Change: V176I
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000020497
Gene: ENSMUSG00000020256
AA Change: V176I
| 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 benign
Transcript: ENSMUST00000146640
AA Change: V63I
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000117076
Gene: ENSMUSG00000020256
AA Change: V63I
| 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 |
0.1303 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.9%
|
| Validation Efficiency |
100% (54/54) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
A |
T |
7: 120,139,934 (GRCm39) |
K1533M |
probably damaging |
Het |
| Atr |
A |
G |
9: 95,747,372 (GRCm39) |
H218R |
probably benign |
Het |
| Atxn7l1 |
T |
A |
12: 33,408,662 (GRCm39) |
S275T |
possibly damaging |
Het |
| Cacna1c |
T |
C |
6: 119,034,263 (GRCm39) |
K88R |
probably damaging |
Het |
| Ccl7 |
T |
C |
11: 81,937,412 (GRCm39) |
Y49H |
probably damaging |
Het |
| Cers5 |
A |
G |
15: 99,636,544 (GRCm39) |
|
probably null |
Het |
| Chuk |
T |
C |
19: 44,071,076 (GRCm39) |
E543G |
probably damaging |
Het |
| Dip2c |
T |
C |
13: 9,697,043 (GRCm39) |
V1318A |
probably damaging |
Het |
| Ercc5 |
A |
G |
1: 44,206,512 (GRCm39) |
H475R |
probably benign |
Het |
| Fat3 |
A |
G |
9: 16,288,818 (GRCm39) |
L235P |
probably damaging |
Het |
| Fbn1 |
A |
T |
2: 125,211,721 (GRCm39) |
C892* |
probably null |
Het |
| Fbxw8 |
T |
C |
5: 118,230,740 (GRCm39) |
T354A |
possibly damaging |
Het |
| Fsip2 |
A |
C |
2: 82,817,601 (GRCm39) |
T4445P |
possibly damaging |
Het |
| Gpld1 |
A |
T |
13: 25,155,397 (GRCm39) |
Q344L |
probably benign |
Het |
| Hao1 |
A |
T |
2: 134,347,545 (GRCm39) |
D253E |
probably benign |
Het |
| Hmcn2 |
A |
G |
2: 31,246,266 (GRCm39) |
D745G |
probably benign |
Het |
| Kcnt1 |
A |
G |
2: 25,793,397 (GRCm39) |
T658A |
probably benign |
Het |
| Klhl35 |
A |
G |
7: 99,122,544 (GRCm39) |
|
probably benign |
Het |
| Lnx2 |
C |
T |
5: 146,978,836 (GRCm39) |
|
probably null |
Het |
| Map3k5 |
T |
C |
10: 19,876,321 (GRCm39) |
V160A |
probably damaging |
Het |
| Masp2 |
A |
T |
4: 148,698,469 (GRCm39) |
I517F |
possibly damaging |
Het |
| Mc4r |
A |
T |
18: 66,992,251 (GRCm39) |
Y287* |
probably null |
Het |
| Mthfr |
A |
G |
4: 148,126,211 (GRCm39) |
D94G |
probably benign |
Het |
| Muc16 |
A |
G |
9: 18,559,114 (GRCm39) |
I2393T |
unknown |
Het |
| Mybbp1a |
G |
T |
11: 72,336,838 (GRCm39) |
V557L |
probably damaging |
Het |
| Mycbp2 |
A |
T |
14: 103,536,183 (GRCm39) |
W256R |
probably damaging |
Het |
| Nacad |
G |
A |
11: 6,550,902 (GRCm39) |
S763L |
probably benign |
Het |
| Nebl |
A |
G |
2: 17,735,641 (GRCm39) |
V11A |
probably benign |
Het |
| Notch1 |
A |
T |
2: 26,358,743 (GRCm39) |
C1363S |
probably damaging |
Het |
| Nphp3 |
A |
G |
9: 103,909,105 (GRCm39) |
N772D |
probably benign |
Het |
| Nqo2 |
G |
A |
13: 34,163,634 (GRCm39) |
V98M |
probably damaging |
Het |
| Pak4 |
A |
G |
7: 28,264,692 (GRCm39) |
I70T |
possibly damaging |
Het |
| Pbx2 |
A |
G |
17: 34,812,574 (GRCm39) |
K2E |
probably damaging |
Het |
| Pikfyve |
A |
G |
1: 65,255,202 (GRCm39) |
T352A |
probably benign |
Het |
| Polr1g |
G |
A |
7: 19,091,558 (GRCm39) |
T183I |
possibly damaging |
Het |
| Pop1 |
T |
C |
15: 34,526,456 (GRCm39) |
Y684H |
probably damaging |
Het |
| Rpa1 |
A |
G |
11: 75,205,721 (GRCm39) |
V212A |
probably damaging |
Het |
| Rpap2 |
A |
G |
5: 107,768,536 (GRCm39) |
E458G |
probably damaging |
Het |
| Sin3a |
T |
C |
9: 57,002,708 (GRCm39) |
V200A |
possibly damaging |
Het |
| Sla |
T |
C |
15: 66,654,447 (GRCm39) |
T280A |
probably null |
Het |
| Slc22a26 |
A |
T |
19: 7,763,812 (GRCm39) |
I406K |
possibly damaging |
Het |
| Slc24a1 |
T |
C |
9: 64,844,545 (GRCm39) |
N606S |
unknown |
Het |
| Slc39a10 |
G |
A |
1: 46,866,567 (GRCm39) |
T443M |
probably damaging |
Het |
| Smg1 |
A |
T |
7: 117,762,553 (GRCm39) |
|
probably benign |
Het |
| Sra1 |
G |
A |
18: 36,803,336 (GRCm39) |
A9V |
probably damaging |
Het |
| Stard4 |
A |
G |
18: 33,342,109 (GRCm39) |
V47A |
probably damaging |
Het |
| Stat4 |
A |
T |
1: 52,113,836 (GRCm39) |
D182V |
possibly damaging |
Het |
| Syt1 |
A |
G |
10: 108,467,668 (GRCm39) |
F210L |
probably damaging |
Het |
| Ube2q1 |
T |
A |
3: 89,688,667 (GRCm39) |
|
probably null |
Het |
| Vmn1r159 |
C |
T |
7: 22,542,612 (GRCm39) |
C140Y |
possibly damaging |
Het |
| Wnt8a |
T |
C |
18: 34,678,599 (GRCm39) |
F138L |
possibly damaging |
Het |
| Zfp623 |
T |
A |
15: 75,820,470 (GRCm39) |
D475E |
probably benign |
Het |
| Zfp646 |
C |
T |
7: 127,477,897 (GRCm39) |
R25W |
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 |
|
|
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'- CCGTCACAGACTTTCAAGCTC -3'
(R):5'- AGGCCACTATCTGCGTTTGC -3'
Sequencing Primer
(F):5'- GCTCCAATTTACATTACAGCCATGTG -3'
(R):5'- GCGTTTGCAATGTAACCTCC -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation