Incidental Mutation 'R6189:Aldh1l2'
| ID |
502401 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aldh1l2
|
| Ensembl Gene |
ENSMUSG00000020256 |
| Gene Name |
aldehyde dehydrogenase 1 family, member L2 |
| Synonyms |
D330038I09Rik |
| MMRRC Submission |
044329-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6189 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
83323314-83370004 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 83343877 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117076
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020497]
[ENSMUST00000146640]
|
| AlphaFold |
Q8K009 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000020497
|
| SMART Domains |
Protein: ENSMUSP00000020497
Gene: ENSMUSG00000020256
| 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: ENSMUST00000125193
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138858
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143793
|
| Predicted Effect |
probably null
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 |
|
| Meta Mutation Damage Score |
0.9581 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
| Validation Efficiency |
97% (74/76) |
| 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: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A530064D06Rik |
A |
G |
17: 48,474,222 (GRCm39) |
|
probably benign |
Het |
| Abca8a |
T |
C |
11: 109,921,710 (GRCm39) |
D1448G |
probably damaging |
Het |
| Actn2 |
C |
T |
13: 12,291,326 (GRCm39) |
D693N |
probably damaging |
Het |
| Adam3 |
A |
C |
8: 25,201,352 (GRCm39) |
I267R |
probably benign |
Het |
| C4bp |
T |
C |
1: 130,564,556 (GRCm39) |
Y376C |
probably damaging |
Het |
| Cacna1h |
A |
G |
17: 25,616,818 (GRCm39) |
W101R |
probably damaging |
Het |
| Ccdc97 |
T |
A |
7: 25,415,523 (GRCm39) |
T47S |
probably benign |
Het |
| Cenatac |
G |
A |
9: 44,321,618 (GRCm39) |
R328C |
probably benign |
Het |
| Cnot6l |
G |
A |
5: 96,246,136 (GRCm39) |
T171I |
probably benign |
Het |
| Cntnap2 |
T |
A |
6: 47,248,232 (GRCm39) |
S1213T |
probably damaging |
Het |
| Cxcl10 |
A |
T |
5: 92,495,972 (GRCm39) |
L55Q |
probably benign |
Het |
| Cyp1a1 |
T |
C |
9: 57,607,966 (GRCm39) |
V198A |
probably damaging |
Het |
| Dclre1b |
A |
G |
3: 103,710,849 (GRCm39) |
V354A |
probably damaging |
Het |
| Dmxl1 |
C |
T |
18: 50,026,402 (GRCm39) |
H1837Y |
probably benign |
Het |
| Dnajc13 |
G |
C |
9: 104,091,085 (GRCm39) |
D665E |
probably benign |
Het |
| Dnmbp |
T |
C |
19: 43,878,748 (GRCm39) |
T108A |
probably benign |
Het |
| Dnmbp |
T |
A |
19: 43,889,950 (GRCm39) |
T606S |
probably benign |
Het |
| Dok5 |
T |
A |
2: 170,642,771 (GRCm39) |
I23N |
probably damaging |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Epha5 |
A |
T |
5: 84,385,399 (GRCm39) |
F311I |
probably damaging |
Het |
| Erbb4 |
T |
A |
1: 68,083,075 (GRCm39) |
M1059L |
probably benign |
Het |
| Fbxo40 |
A |
G |
16: 36,786,526 (GRCm39) |
I681T |
probably benign |
Het |
| Flg2 |
T |
A |
3: 93,127,381 (GRCm39) |
C2098S |
unknown |
Het |
| Gpr87 |
T |
A |
3: 59,086,650 (GRCm39) |
D285V |
probably damaging |
Het |
| Hrh1 |
T |
A |
6: 114,456,959 (GRCm39) |
V80D |
probably damaging |
Het |
| Hunk |
G |
A |
16: 90,284,769 (GRCm39) |
R351K |
probably benign |
Het |
| Ifna12 |
A |
G |
4: 88,521,248 (GRCm39) |
W100R |
probably damaging |
Het |
| Ift57 |
G |
A |
16: 49,584,176 (GRCm39) |
G310S |
probably damaging |
Het |
| Igf1r |
T |
A |
7: 67,857,084 (GRCm39) |
Y1015* |
probably null |
Het |
| Igkv14-130 |
T |
C |
6: 67,768,432 (GRCm39) |
I96T |
probably damaging |
Het |
| Il34 |
C |
T |
8: 111,469,350 (GRCm39) |
S155N |
probably benign |
Het |
| Itga7 |
T |
C |
10: 128,786,272 (GRCm39) |
S938P |
possibly damaging |
Het |
| Itgam |
A |
G |
7: 127,711,676 (GRCm39) |
M764V |
probably benign |
Het |
| Lao1 |
T |
A |
4: 118,825,077 (GRCm39) |
M299K |
probably benign |
Het |
| Lnpep |
A |
T |
17: 17,787,001 (GRCm39) |
S533T |
possibly damaging |
Het |
| Lrp4 |
T |
C |
2: 91,305,579 (GRCm39) |
V283A |
possibly damaging |
Het |
| Magi3 |
G |
T |
3: 103,958,181 (GRCm39) |
H635N |
probably damaging |
Het |
| Mecr |
A |
T |
4: 131,592,565 (GRCm39) |
|
probably null |
Het |
| Mgrn1 |
T |
C |
16: 4,728,674 (GRCm39) |
|
probably null |
Het |
| Mical2 |
A |
C |
7: 112,012,087 (GRCm39) |
N646H |
probably damaging |
Het |
| Mymk |
C |
T |
2: 26,957,377 (GRCm39) |
V39I |
possibly damaging |
Het |
| Nav3 |
T |
C |
10: 109,555,880 (GRCm39) |
S1684G |
probably damaging |
Het |
| Ntn5 |
A |
T |
7: 45,342,644 (GRCm39) |
D330V |
probably benign |
Het |
| Nup42 |
G |
T |
5: 24,380,452 (GRCm39) |
G149V |
probably damaging |
Het |
| Nutm2 |
T |
A |
13: 50,623,774 (GRCm39) |
V157D |
possibly damaging |
Het |
| Obscn |
T |
C |
11: 58,960,760 (GRCm39) |
I3460V |
probably benign |
Het |
| Or8u10 |
A |
T |
2: 85,915,257 (GRCm39) |
M288K |
possibly damaging |
Het |
| Pakap |
A |
G |
4: 57,855,928 (GRCm39) |
E419G |
probably benign |
Het |
| Pcdh15 |
C |
T |
10: 74,178,483 (GRCm39) |
A580V |
probably null |
Het |
| Pcdhb10 |
T |
A |
18: 37,545,456 (GRCm39) |
H177Q |
probably damaging |
Het |
| Pitx2 |
T |
C |
3: 129,012,118 (GRCm39) |
Y130H |
probably damaging |
Het |
| Pmch |
G |
T |
10: 87,927,248 (GRCm39) |
|
probably null |
Het |
| Pofut2 |
T |
A |
10: 77,104,420 (GRCm39) |
I399N |
probably damaging |
Het |
| Prr36 |
C |
A |
8: 4,264,177 (GRCm39) |
|
probably benign |
Het |
| Ptprq |
C |
A |
10: 107,353,748 (GRCm39) |
C2256F |
probably damaging |
Het |
| Rassf5 |
G |
A |
1: 131,172,716 (GRCm39) |
A51V |
probably damaging |
Het |
| Retnla |
A |
G |
16: 48,663,258 (GRCm39) |
I54V |
probably benign |
Het |
| Rimbp2 |
A |
G |
5: 128,880,961 (GRCm39) |
L142P |
probably benign |
Het |
| Ripk1 |
A |
G |
13: 34,216,484 (GRCm39) |
T564A |
probably benign |
Het |
| Robo4 |
G |
A |
9: 37,314,829 (GRCm39) |
E228K |
probably benign |
Het |
| Rsf1 |
GGCG |
GGCGACGGCTGCG |
7: 97,229,113 (GRCm39) |
|
probably benign |
Homo |
| Rusc1 |
A |
T |
3: 88,996,319 (GRCm39) |
L132Q |
probably damaging |
Het |
| Serpinb9h |
A |
T |
13: 33,588,427 (GRCm39) |
E337D |
probably benign |
Het |
| Setd1a |
T |
C |
7: 127,377,455 (GRCm39) |
|
probably null |
Het |
| Slc38a6 |
A |
T |
12: 73,356,970 (GRCm39) |
K122M |
probably damaging |
Het |
| Speer4a2 |
A |
G |
5: 26,290,691 (GRCm39) |
I160T |
probably benign |
Het |
| Susd5 |
A |
T |
9: 113,924,726 (GRCm39) |
D203V |
probably damaging |
Het |
| Trip4 |
G |
A |
9: 65,786,434 (GRCm39) |
R110* |
probably null |
Het |
| Tuba4a |
T |
A |
1: 75,193,518 (GRCm39) |
I95F |
probably benign |
Het |
| Ube2q2 |
T |
A |
9: 55,070,267 (GRCm39) |
S70T |
probably benign |
Het |
| Umodl1 |
A |
G |
17: 31,215,256 (GRCm39) |
I1027V |
possibly damaging |
Het |
| Unc80 |
G |
A |
1: 66,716,630 (GRCm39) |
V2917I |
probably benign |
Het |
| Vmn1r70 |
T |
A |
7: 10,367,598 (GRCm39) |
C29S |
probably benign |
Het |
| Vmn2r94 |
A |
T |
17: 18,477,996 (GRCm39) |
D138E |
probably benign |
Het |
| Wee2 |
C |
T |
6: 40,426,617 (GRCm39) |
H129Y |
probably damaging |
Het |
| Zfp318 |
TGAAGAAGAAGAAGAAGAAGAAGAAGAAG |
TGAAGAAGAAGAAGAAGAAGAAG |
17: 46,723,440 (GRCm39) |
|
probably benign |
Het |
| Zfp872 |
A |
T |
9: 22,108,427 (GRCm39) |
D42V |
probably benign |
Het |
| Zic5 |
T |
G |
14: 122,702,386 (GRCm39) |
D115A |
unknown |
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 |
|
|
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'- ATCACCTGGTGACTGACACTTG -3'
(R):5'- GCATCAATAGATCCCTCAGTGAC -3'
Sequencing Primer
(F):5'- GACATGGTCAATGGGTTAAATCCCC -3'
(R):5'- AATAGATCCCTCAGTGACCTATTTC -3'
|
| Posted On |
2018-02-27 |
Incidental Mutation