Incidental Mutation 'R2290:Aldh1l2'
| ID |
244284 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aldh1l2
|
| Ensembl Gene |
ENSMUSG00000020256 |
| Gene Name |
aldehyde dehydrogenase 1 family, member L2 |
| Synonyms |
D330038I09Rik |
| MMRRC Submission |
040289-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2290 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
83323314-83370004 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 83363177 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 62
(D62G)
|
| 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: D62G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000020497
Gene: ENSMUSG00000020256
AA Change: D62G
| 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 |
|
| Meta Mutation Damage Score |
0.4547 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
100% (73/73) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ambp |
T |
C |
4: 63,061,924 (GRCm39) |
Y335C |
probably damaging |
Het |
| Arid4a |
G |
T |
12: 71,108,315 (GRCm39) |
G40V |
probably damaging |
Het |
| Asb13 |
G |
A |
13: 3,699,418 (GRCm39) |
G206D |
probably damaging |
Het |
| Ccdc7b |
A |
G |
8: 129,857,587 (GRCm39) |
|
probably benign |
Het |
| Cdh15 |
A |
T |
8: 123,586,056 (GRCm39) |
N145I |
probably damaging |
Het |
| Celsr3 |
T |
C |
9: 108,720,423 (GRCm39) |
I2565T |
probably damaging |
Het |
| Cfap43 |
A |
T |
19: 47,761,574 (GRCm39) |
M840K |
probably damaging |
Het |
| Clip4 |
T |
C |
17: 72,117,948 (GRCm39) |
V331A |
possibly damaging |
Het |
| Cnnm1 |
A |
G |
19: 43,479,941 (GRCm39) |
T829A |
probably benign |
Het |
| Col24a1 |
G |
A |
3: 145,218,950 (GRCm39) |
G1457E |
probably damaging |
Het |
| D6Ertd527e |
A |
G |
6: 87,088,527 (GRCm39) |
N230S |
unknown |
Het |
| Dll1 |
T |
C |
17: 15,595,010 (GRCm39) |
D89G |
probably benign |
Het |
| Dst |
T |
A |
1: 34,268,281 (GRCm39) |
V2901E |
probably damaging |
Het |
| Dvl1 |
G |
A |
4: 155,932,273 (GRCm39) |
V28I |
possibly damaging |
Het |
| Efl1 |
A |
T |
7: 82,426,878 (GRCm39) |
K1125N |
probably damaging |
Het |
| Efr3a |
T |
A |
15: 65,721,688 (GRCm39) |
F437L |
probably benign |
Het |
| Eqtn |
GTTCTTCTTC |
GTTCTTC |
4: 94,815,179 (GRCm39) |
|
probably benign |
Het |
| Ermp1 |
T |
C |
19: 29,601,178 (GRCm39) |
D523G |
probably damaging |
Het |
| Gm38999 |
A |
G |
7: 43,077,123 (GRCm39) |
E5G |
probably benign |
Het |
| Gm5828 |
C |
T |
1: 16,838,568 (GRCm39) |
|
noncoding transcript |
Het |
| Gnas |
T |
C |
2: 174,141,803 (GRCm39) |
F717L |
probably benign |
Het |
| H6pd |
T |
A |
4: 150,066,338 (GRCm39) |
S683C |
probably damaging |
Het |
| Il23r |
G |
A |
6: 67,400,845 (GRCm39) |
T495I |
probably benign |
Het |
| Itpr2 |
T |
C |
6: 146,324,326 (GRCm39) |
N135D |
probably damaging |
Het |
| Kcns2 |
T |
A |
15: 34,838,655 (GRCm39) |
L6Q |
possibly damaging |
Het |
| Khdrbs3 |
C |
T |
15: 68,901,610 (GRCm39) |
R132C |
probably damaging |
Het |
| Kif2b |
A |
G |
11: 91,466,522 (GRCm39) |
V587A |
probably benign |
Het |
| Kng1 |
A |
T |
16: 22,897,875 (GRCm39) |
H425L |
possibly damaging |
Het |
| Letm1 |
A |
AG |
5: 33,926,859 (GRCm39) |
|
probably null |
Het |
| Lrrc8e |
T |
C |
8: 4,281,770 (GRCm39) |
M35T |
probably damaging |
Het |
| Med12l |
A |
G |
3: 59,152,359 (GRCm39) |
N1048S |
probably damaging |
Het |
| Mex3c |
A |
C |
18: 73,723,764 (GRCm39) |
N619T |
probably damaging |
Het |
| Mfsd4b1 |
G |
A |
10: 39,879,327 (GRCm39) |
T190I |
probably damaging |
Het |
| Ncam1 |
A |
G |
9: 49,434,951 (GRCm39) |
|
probably benign |
Het |
| Nlrp6 |
G |
A |
7: 140,502,076 (GRCm39) |
G133S |
probably damaging |
Het |
| Oplah |
A |
G |
15: 76,186,925 (GRCm39) |
V630A |
probably benign |
Het |
| Or1e26 |
G |
T |
11: 73,479,745 (GRCm39) |
A273D |
probably benign |
Het |
| Or2y1 |
A |
G |
11: 49,385,857 (GRCm39) |
M166V |
probably benign |
Het |
| Or5ak24 |
C |
T |
2: 85,260,544 (GRCm39) |
V210M |
possibly damaging |
Het |
| Or8g36 |
A |
G |
9: 39,422,974 (GRCm39) |
L14P |
possibly damaging |
Het |
| Pcnx2 |
A |
T |
8: 126,604,334 (GRCm39) |
|
probably benign |
Het |
| Pkhd1l1 |
A |
T |
15: 44,391,646 (GRCm39) |
T1571S |
probably benign |
Het |
| Pramel13 |
T |
A |
4: 144,121,269 (GRCm39) |
T252S |
probably benign |
Het |
| Pramel13 |
G |
T |
4: 144,121,692 (GRCm39) |
H111N |
probably benign |
Het |
| Prr22 |
T |
G |
17: 57,078,884 (GRCm39) |
F346V |
probably benign |
Het |
| Prr30 |
T |
C |
14: 101,436,211 (GRCm39) |
N117S |
possibly damaging |
Het |
| Ptgfrn |
A |
G |
3: 100,984,677 (GRCm39) |
S172P |
possibly damaging |
Het |
| Ptprc |
C |
T |
1: 138,038,926 (GRCm39) |
V364I |
probably benign |
Het |
| Ptprz1 |
T |
C |
6: 23,000,990 (GRCm39) |
S1027P |
probably damaging |
Het |
| Rinl |
T |
C |
7: 28,491,696 (GRCm39) |
V83A |
probably benign |
Het |
| Ros1 |
A |
T |
10: 51,994,477 (GRCm39) |
S1268T |
probably damaging |
Het |
| Scly |
T |
C |
1: 91,226,172 (GRCm39) |
|
probably null |
Het |
| Slc25a1 |
C |
T |
16: 17,743,712 (GRCm39) |
V186M |
possibly damaging |
Het |
| Stk36 |
T |
G |
1: 74,665,303 (GRCm39) |
|
probably benign |
Het |
| Syn2 |
A |
G |
6: 115,251,190 (GRCm39) |
T449A |
possibly damaging |
Het |
| Tecpr1 |
T |
C |
5: 144,150,881 (GRCm39) |
D309G |
probably damaging |
Het |
| Tent4b |
T |
C |
8: 88,978,603 (GRCm39) |
S435P |
probably damaging |
Het |
| Tns2 |
T |
A |
15: 102,020,458 (GRCm39) |
Y775N |
probably damaging |
Het |
| Tril |
G |
T |
6: 53,795,012 (GRCm39) |
R737S |
probably damaging |
Het |
| Ttl |
G |
A |
2: 128,923,190 (GRCm39) |
G177D |
possibly damaging |
Het |
| Twf1 |
A |
G |
15: 94,484,400 (GRCm39) |
S41P |
probably damaging |
Het |
| Unc79 |
C |
T |
12: 103,112,625 (GRCm39) |
T2174M |
probably damaging |
Het |
| Vangl2 |
T |
A |
1: 171,836,113 (GRCm39) |
K340* |
probably null |
Het |
| Vmn2r72 |
T |
A |
7: 85,387,549 (GRCm39) |
T672S |
probably damaging |
Het |
| Vwa7 |
A |
G |
17: 35,236,187 (GRCm39) |
D47G |
probably damaging |
Het |
| Zc3h12d |
A |
G |
10: 7,743,223 (GRCm39) |
H331R |
probably benign |
Het |
| Zfa-ps |
T |
C |
10: 52,421,112 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp141 |
A |
T |
7: 42,124,649 (GRCm39) |
C608S |
probably damaging |
Het |
| Zfp422 |
A |
G |
6: 116,603,603 (GRCm39) |
I132T |
possibly damaging |
Het |
| Zfp652 |
A |
G |
11: 95,640,849 (GRCm39) |
Y258C |
possibly 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 |
|
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 |
|
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'- TGAGTATATGCACATGCCCATG -3'
(R):5'- CTGTCCACAGCAATTGTTGTC -3'
Sequencing Primer
(F):5'- TATGAACTAGGTCCTCAAGCTCAGG -3'
(R):5'- GTCCACAGCAATTGTTGTCACTATAC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation