Incidental Mutation 'R5421:Aldh1l2'
| ID |
426580 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aldh1l2
|
| Ensembl Gene |
ENSMUSG00000020256 |
| Gene Name |
aldehyde dehydrogenase 1 family, member L2 |
| Synonyms |
D330038I09Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5421 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
83323314-83370004 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 83363271 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 31
(S31G)
|
| 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: S31G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000020497
Gene: ENSMUSG00000020256
AA Change: S31G
| 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
|
| SMART Domains |
Protein: ENSMUSP00000117076
Gene: ENSMUSG00000020256
| 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: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.8%
|
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb1 |
A |
T |
15: 74,421,876 (GRCm39) |
Q882L |
probably damaging |
Het |
| Afdn |
T |
C |
17: 14,052,668 (GRCm39) |
V525A |
probably benign |
Het |
| AI987944 |
T |
C |
7: 41,024,200 (GRCm39) |
T263A |
probably benign |
Het |
| Asxl1 |
T |
C |
2: 153,241,504 (GRCm39) |
S685P |
probably benign |
Het |
| Blnk |
C |
A |
19: 40,956,967 (GRCm39) |
V47F |
probably damaging |
Het |
| Bmp4 |
T |
A |
14: 46,623,355 (GRCm39) |
M64L |
probably damaging |
Het |
| Bmpr2 |
T |
A |
1: 59,909,577 (GRCm39) |
V1017E |
possibly damaging |
Het |
| C1ra |
C |
T |
6: 124,499,749 (GRCm39) |
P645L |
probably benign |
Het |
| Cadm2 |
A |
T |
16: 66,568,513 (GRCm39) |
C248* |
probably null |
Het |
| Cdk6 |
T |
C |
5: 3,523,120 (GRCm39) |
V180A |
probably damaging |
Het |
| Colec12 |
A |
T |
18: 9,858,580 (GRCm39) |
R454S |
probably damaging |
Het |
| Dennd3 |
T |
C |
15: 73,438,964 (GRCm39) |
S1111P |
probably benign |
Het |
| Dmxl1 |
T |
C |
18: 49,996,186 (GRCm39) |
|
probably null |
Het |
| Dnah2 |
G |
A |
11: 69,326,462 (GRCm39) |
T3613I |
probably damaging |
Het |
| Elp6 |
A |
G |
9: 110,143,132 (GRCm39) |
Q115R |
probably benign |
Het |
| Enpp1 |
A |
G |
10: 24,545,655 (GRCm39) |
Y262H |
probably damaging |
Het |
| Far2 |
A |
G |
6: 148,047,690 (GRCm39) |
|
probably null |
Het |
| Flnb |
C |
T |
14: 7,926,494 (GRCm38) |
T1846I |
probably damaging |
Het |
| Folr2 |
C |
T |
7: 101,489,851 (GRCm39) |
R139H |
probably benign |
Het |
| Fxn |
A |
T |
19: 24,254,649 (GRCm39) |
|
probably null |
Het |
| Galnt13 |
A |
C |
2: 54,747,908 (GRCm39) |
N263T |
probably damaging |
Het |
| Gje1 |
G |
A |
10: 14,592,428 (GRCm39) |
S118L |
probably damaging |
Het |
| Htr5a |
G |
T |
5: 28,055,985 (GRCm39) |
W325C |
possibly damaging |
Het |
| Itga4 |
T |
A |
2: 79,146,385 (GRCm39) |
Y772* |
probably null |
Het |
| Kif12 |
T |
C |
4: 63,089,665 (GRCm39) |
S59G |
probably benign |
Het |
| Kifc3 |
C |
T |
8: 95,836,473 (GRCm39) |
R96Q |
probably damaging |
Het |
| Klrd1 |
T |
C |
6: 129,575,406 (GRCm39) |
Y191H |
probably damaging |
Het |
| Ndst3 |
A |
T |
3: 123,428,008 (GRCm39) |
|
probably null |
Het |
| Nek1 |
A |
C |
8: 61,459,711 (GRCm39) |
R6S |
possibly damaging |
Het |
| Or4b13 |
G |
A |
2: 90,083,089 (GRCm39) |
T81I |
probably benign |
Het |
| Or5p68 |
G |
C |
7: 107,946,182 (GRCm39) |
A2G |
probably benign |
Het |
| Or6k8-ps1 |
C |
T |
1: 173,979,861 (GRCm39) |
R260* |
probably null |
Het |
| Palld |
C |
T |
8: 61,969,584 (GRCm39) |
E1005K |
probably damaging |
Het |
| Ppp2r1a |
T |
A |
17: 21,176,968 (GRCm39) |
Y169N |
probably benign |
Het |
| Rad50 |
T |
C |
11: 53,565,773 (GRCm39) |
D960G |
probably benign |
Het |
| Rad51ap2 |
A |
T |
12: 11,509,368 (GRCm39) |
K915* |
probably null |
Het |
| Rasal2 |
T |
C |
1: 157,126,711 (GRCm39) |
K109R |
probably benign |
Het |
| Rc3h1 |
G |
A |
1: 160,779,400 (GRCm39) |
|
probably null |
Het |
| Rnf6 |
C |
T |
5: 146,147,339 (GRCm39) |
V560I |
probably benign |
Het |
| Samd8 |
A |
G |
14: 21,842,563 (GRCm39) |
D295G |
probably damaging |
Het |
| Scart1 |
T |
C |
7: 139,803,813 (GRCm39) |
L337P |
probably damaging |
Het |
| Serpinb2 |
T |
C |
1: 107,451,581 (GRCm39) |
Y245H |
probably damaging |
Het |
| Sh3bp5 |
C |
A |
14: 31,099,452 (GRCm39) |
R265L |
probably benign |
Het |
| Slc28a3 |
A |
T |
13: 58,722,079 (GRCm39) |
F268L |
possibly damaging |
Het |
| Slc7a14 |
T |
C |
3: 31,278,346 (GRCm39) |
T420A |
probably damaging |
Het |
| Speer4f2 |
A |
T |
5: 17,579,356 (GRCm39) |
T52S |
possibly damaging |
Het |
| Spta1 |
A |
G |
1: 174,043,095 (GRCm39) |
N1414D |
probably damaging |
Het |
| Sptbn5 |
A |
G |
2: 119,911,261 (GRCm39) |
|
noncoding transcript |
Het |
| Syt9 |
T |
C |
7: 107,024,563 (GRCm39) |
V152A |
probably benign |
Het |
| Thoc2l |
A |
T |
5: 104,666,261 (GRCm39) |
N261I |
probably benign |
Het |
| Tln1 |
G |
A |
4: 43,533,609 (GRCm39) |
A2315V |
possibly damaging |
Het |
| Tox |
C |
A |
4: 6,842,409 (GRCm39) |
M40I |
possibly damaging |
Het |
| Ucp1 |
G |
A |
8: 84,017,320 (GRCm39) |
A37T |
probably benign |
Het |
| Vapa |
A |
G |
17: 65,902,031 (GRCm39) |
V33A |
possibly damaging |
Het |
| Vmn2r110 |
A |
G |
17: 20,803,882 (GRCm39) |
L231S |
probably damaging |
Het |
| Vmn2r15 |
C |
T |
5: 109,434,401 (GRCm39) |
A768T |
probably damaging |
Het |
| Vmn2r86 |
T |
C |
10: 130,282,805 (GRCm39) |
T604A |
probably benign |
Het |
| Vps51 |
T |
G |
19: 6,121,063 (GRCm39) |
E283D |
probably benign |
Het |
| Wnk1 |
A |
G |
6: 119,929,779 (GRCm39) |
V1246A |
probably damaging |
Het |
| Wwc1 |
C |
T |
11: 35,801,123 (GRCm39) |
E105K |
possibly damaging |
Het |
| Wwc1 |
T |
G |
11: 35,766,890 (GRCm39) |
D455A |
possibly damaging |
Het |
| Zfp426 |
G |
A |
9: 20,382,015 (GRCm39) |
A309V |
probably damaging |
Het |
| Zfp626 |
T |
A |
7: 27,517,335 (GRCm39) |
N105K |
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 |
|
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'- GGACCATGAAAGCCTTGTCTTG -3'
(R):5'- TTGGGGAGAACATTATCACCC -3'
Sequencing Primer
(F):5'- CCATGAAAGCCTTGTCTTGATATGGC -3'
(R):5'- CCCACGTAGTACAGCTGGAC -3'
|
| Posted On |
2016-09-01 |
Incidental Mutation