Incidental Mutation 'R2043:Aldh1l1'
| ID |
225181 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aldh1l1
|
| Ensembl Gene |
ENSMUSG00000030088 |
| Gene Name |
aldehyde dehydrogenase 1 family, member L1 |
| Synonyms |
Fthfd, 1810048F20Rik |
| MMRRC Submission |
040050-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2043 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
90527751-90576153 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 90534314 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 36
(D36E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114304
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032175]
[ENSMUST00000130418]
[ENSMUST00000203111]
[ENSMUST00000204796]
|
| AlphaFold |
Q8R0Y6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032175
AA Change: D36E
PolyPhen 2
Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000032175
Gene: ENSMUSG00000030088
AA Change: D36E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Formyl_trans_N
|
1 |
180 |
6.9e-53 |
PFAM |
|
Pfam:Formyl_trans_C
|
204 |
310 |
4e-18 |
PFAM |
|
Pfam:PP-binding
|
325 |
391 |
3.7e-6 |
PFAM |
|
Pfam:Aldedh
|
430 |
898 |
1.3e-175 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127199
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130418
AA Change: D36E
PolyPhen 2
Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000114304
Gene: ENSMUSG00000030088
AA Change: D36E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Formyl_trans_N
|
1 |
180 |
7.4e-54 |
PFAM |
|
Pfam:Formyl_trans_C
|
204 |
310 |
2.6e-18 |
PFAM |
|
Pfam:Aldedh
|
430 |
898 |
1.7e-175 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203111
|
| SMART Domains |
Protein: ENSMUSP00000145233
Gene: ENSMUSG00000030088
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Formyl_trans_N
|
4 |
135 |
4.2e-42 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204796
AA Change: D36E
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000145380
Gene: ENSMUSG00000030088
AA Change: D36E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Formyl_trans_N
|
1 |
180 |
3e-53 |
PFAM |
|
Pfam:Formyl_trans_C
|
204 |
310 |
1.5e-17 |
PFAM |
|
| Meta Mutation Damage Score |
0.0958 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
96% (47/49) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene catalyzes the conversion of 10-formyltetrahydrofolate, nicotinamide adenine dinucleotide phosphate (NADP+), and water to tetrahydrofolate, NADPH, and carbon dioxide. The encoded protein belongs to the aldehyde dehydrogenase family. Loss of function or expression of this gene is associated with decreased apoptosis, increased cell motility, and cancer progression. There is an antisense transcript that overlaps on the opposite strand with this gene locus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam9 |
A |
G |
8: 25,486,669 (GRCm39) |
|
probably null |
Het |
| Adnp2 |
A |
C |
18: 80,171,541 (GRCm39) |
M956R |
probably damaging |
Het |
| Ankmy1 |
T |
C |
1: 92,804,249 (GRCm39) |
|
probably benign |
Het |
| Apaf1 |
T |
C |
10: 90,872,890 (GRCm39) |
D718G |
probably damaging |
Het |
| Ascc3 |
C |
T |
10: 50,576,616 (GRCm39) |
P857L |
probably damaging |
Het |
| Atp8b1 |
T |
C |
18: 64,738,271 (GRCm39) |
K60R |
possibly damaging |
Het |
| Bub1 |
A |
T |
2: 127,646,140 (GRCm39) |
C947S |
probably damaging |
Het |
| Cacna1c |
C |
T |
6: 118,573,049 (GRCm39) |
G2017D |
probably benign |
Het |
| Capn3 |
A |
G |
2: 120,322,382 (GRCm39) |
N414S |
possibly damaging |
Het |
| Ccdc110 |
T |
C |
8: 46,395,864 (GRCm39) |
M585T |
probably benign |
Het |
| Cep85l |
A |
T |
10: 53,234,224 (GRCm39) |
N51K |
possibly damaging |
Het |
| Cftr |
T |
C |
6: 18,320,934 (GRCm39) |
F1415L |
probably benign |
Het |
| Cln5 |
T |
C |
14: 103,313,380 (GRCm39) |
S211P |
probably damaging |
Het |
| Dcaf5 |
A |
T |
12: 80,386,991 (GRCm39) |
D378E |
probably benign |
Het |
| Dhx57 |
A |
G |
17: 80,560,509 (GRCm39) |
|
probably benign |
Het |
| Dsn1 |
G |
A |
2: 156,847,273 (GRCm39) |
S55L |
possibly damaging |
Het |
| Eif5b |
T |
C |
1: 38,080,900 (GRCm39) |
F747S |
probably damaging |
Het |
| Entrep3 |
A |
G |
3: 89,092,874 (GRCm39) |
Y251C |
probably damaging |
Het |
| Fbxo25 |
A |
G |
8: 13,971,905 (GRCm39) |
I86V |
probably damaging |
Het |
| Fpr-rs4 |
CAGGAA |
CA |
17: 18,242,596 (GRCm39) |
|
probably null |
Het |
| Glcci1 |
T |
A |
6: 8,582,590 (GRCm39) |
I130K |
probably damaging |
Het |
| Gm5424 |
A |
G |
10: 61,906,990 (GRCm39) |
|
noncoding transcript |
Het |
| Gsdma |
G |
A |
11: 98,557,046 (GRCm39) |
V54M |
possibly damaging |
Het |
| H3c3 |
A |
G |
13: 23,929,278 (GRCm39) |
F68S |
probably damaging |
Het |
| Heatr3 |
T |
A |
8: 88,874,322 (GRCm39) |
|
probably benign |
Het |
| Hspa13 |
A |
G |
16: 75,555,156 (GRCm39) |
L310S |
probably benign |
Het |
| Il6st |
A |
C |
13: 112,616,753 (GRCm39) |
Q100P |
probably benign |
Het |
| Ly6g6e |
G |
A |
17: 35,296,840 (GRCm39) |
R27Q |
possibly damaging |
Het |
| Mis18bp1 |
A |
T |
12: 65,196,192 (GRCm39) |
I524K |
probably damaging |
Het |
| Myo18a |
T |
C |
11: 77,714,189 (GRCm39) |
I761T |
probably damaging |
Het |
| Mypop |
T |
C |
7: 18,734,944 (GRCm39) |
|
probably benign |
Het |
| Or51ag1 |
A |
G |
7: 103,156,150 (GRCm39) |
M1T |
probably null |
Het |
| Pcdh20 |
G |
A |
14: 88,704,591 (GRCm39) |
T903I |
probably benign |
Het |
| Pdk4 |
A |
T |
6: 5,485,502 (GRCm39) |
C396S |
probably benign |
Het |
| Piwil2 |
A |
G |
14: 70,628,919 (GRCm39) |
V699A |
probably benign |
Het |
| Plekha5 |
T |
C |
6: 140,498,530 (GRCm39) |
|
probably benign |
Het |
| Ralgapa1 |
T |
A |
12: 55,723,811 (GRCm39) |
I1572L |
probably damaging |
Het |
| Rasgrf2 |
T |
A |
13: 92,167,351 (GRCm39) |
M241L |
possibly damaging |
Het |
| Ryr1 |
C |
T |
7: 28,759,056 (GRCm39) |
R3374H |
probably damaging |
Het |
| Slc24a2 |
A |
T |
4: 86,914,882 (GRCm39) |
M519K |
probably damaging |
Het |
| Smg9 |
T |
A |
7: 24,105,001 (GRCm39) |
I67N |
possibly damaging |
Het |
| Spart |
G |
A |
3: 55,034,969 (GRCm39) |
A452T |
probably damaging |
Het |
| Ush2a |
T |
A |
1: 188,648,453 (GRCm39) |
F4686Y |
probably benign |
Het |
| Zfp146 |
T |
C |
7: 29,861,664 (GRCm39) |
K126R |
possibly damaging |
Het |
| Zfp386 |
T |
A |
12: 116,022,781 (GRCm39) |
D131E |
probably benign |
Het |
| Zfp423 |
T |
C |
8: 88,509,246 (GRCm39) |
D366G |
probably damaging |
Het |
| Zfp729a |
T |
C |
13: 67,769,291 (GRCm39) |
K313E |
probably damaging |
Het |
| Zfp955a |
G |
A |
17: 33,461,527 (GRCm39) |
H202Y |
possibly damaging |
Het |
|
| Other mutations in Aldh1l1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01316:Aldh1l1
|
APN |
6 |
90,575,362 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01350:Aldh1l1
|
APN |
6 |
90,536,338 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01601:Aldh1l1
|
APN |
6 |
90,568,823 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01686:Aldh1l1
|
APN |
6 |
90,536,215 (GRCm39) |
splice site |
probably benign |
|
|
IGL01868:Aldh1l1
|
APN |
6 |
90,560,212 (GRCm39) |
nonsense |
probably null |
|
|
IGL01941:Aldh1l1
|
APN |
6 |
90,539,677 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01982:Aldh1l1
|
APN |
6 |
90,536,845 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02088:Aldh1l1
|
APN |
6 |
90,557,572 (GRCm39) |
splice site |
probably benign |
|
|
IGL02159:Aldh1l1
|
APN |
6 |
90,571,638 (GRCm39) |
splice site |
probably benign |
|
|
IGL02450:Aldh1l1
|
APN |
6 |
90,546,855 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02657:Aldh1l1
|
APN |
6 |
90,567,776 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02839:Aldh1l1
|
APN |
6 |
90,546,857 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0149:Aldh1l1
|
UTSW |
6 |
90,566,396 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R0206:Aldh1l1
|
UTSW |
6 |
90,546,848 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R0206:Aldh1l1
|
UTSW |
6 |
90,546,848 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R0418:Aldh1l1
|
UTSW |
6 |
90,546,875 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R1121:Aldh1l1
|
UTSW |
6 |
90,566,366 (GRCm39) |
missense |
probably benign |
|
|
R1467:Aldh1l1
|
UTSW |
6 |
90,548,910 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1467:Aldh1l1
|
UTSW |
6 |
90,548,910 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1649:Aldh1l1
|
UTSW |
6 |
90,541,371 (GRCm39) |
missense |
probably benign |
|
|
R1793:Aldh1l1
|
UTSW |
6 |
90,554,813 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R2044:Aldh1l1
|
UTSW |
6 |
90,539,647 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2229:Aldh1l1
|
UTSW |
6 |
90,560,168 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2426:Aldh1l1
|
UTSW |
6 |
90,575,266 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4109:Aldh1l1
|
UTSW |
6 |
90,539,626 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4818:Aldh1l1
|
UTSW |
6 |
90,573,897 (GRCm39) |
missense |
probably benign |
|
|
R5214:Aldh1l1
|
UTSW |
6 |
90,540,399 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5285:Aldh1l1
|
UTSW |
6 |
90,553,752 (GRCm39) |
nonsense |
probably null |
|
|
R5426:Aldh1l1
|
UTSW |
6 |
90,536,281 (GRCm39) |
missense |
probably benign |
|
|
R5516:Aldh1l1
|
UTSW |
6 |
90,573,927 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5970:Aldh1l1
|
UTSW |
6 |
90,574,028 (GRCm39) |
intron |
probably benign |
|
|
R6235:Aldh1l1
|
UTSW |
6 |
90,541,439 (GRCm39) |
missense |
probably benign |
0.44 |
|
R6322:Aldh1l1
|
UTSW |
6 |
90,539,680 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7053:Aldh1l1
|
UTSW |
6 |
90,540,420 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R7125:Aldh1l1
|
UTSW |
6 |
90,553,761 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7128:Aldh1l1
|
UTSW |
6 |
90,540,361 (GRCm39) |
missense |
probably benign |
0.23 |
|
R7142:Aldh1l1
|
UTSW |
6 |
90,540,398 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7203:Aldh1l1
|
UTSW |
6 |
90,547,782 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7205:Aldh1l1
|
UTSW |
6 |
90,575,257 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7477:Aldh1l1
|
UTSW |
6 |
90,575,369 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7669:Aldh1l1
|
UTSW |
6 |
90,547,844 (GRCm39) |
missense |
probably benign |
|
|
R7718:Aldh1l1
|
UTSW |
6 |
90,575,305 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7788:Aldh1l1
|
UTSW |
6 |
90,546,894 (GRCm39) |
missense |
probably benign |
0.20 |
|
R8438:Aldh1l1
|
UTSW |
6 |
90,536,428 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8922:Aldh1l1
|
UTSW |
6 |
90,536,256 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8969:Aldh1l1
|
UTSW |
6 |
90,547,790 (GRCm39) |
missense |
probably benign |
|
|
R9292:Aldh1l1
|
UTSW |
6 |
90,568,867 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9427:Aldh1l1
|
UTSW |
6 |
90,536,903 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9560:Aldh1l1
|
UTSW |
6 |
90,536,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9771:Aldh1l1
|
UTSW |
6 |
90,575,310 (GRCm39) |
missense |
probably benign |
0.25 |
|
R9784:Aldh1l1
|
UTSW |
6 |
90,541,424 (GRCm39) |
missense |
probably benign |
0.07 |
|
RF007:Aldh1l1
|
UTSW |
6 |
90,575,241 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1176:Aldh1l1
|
UTSW |
6 |
90,560,155 (GRCm39) |
missense |
probably benign |
0.11 |
|
Z1176:Aldh1l1
|
UTSW |
6 |
90,534,266 (GRCm39) |
frame shift |
probably null |
|
|
Z1177:Aldh1l1
|
UTSW |
6 |
90,541,431 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGTTTCCTACGACTCCAGAG -3'
(R):5'- TCTCTATGCCCACTGGTCAG -3'
Sequencing Primer
(F):5'- TACGACTCCAGAGAGCCCTTTC -3'
(R):5'- TATGCCCACTGGTCAGGATACAG -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation