Incidental Mutation 'R1576:Fh1'
| ID |
171146 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fh1
|
| Ensembl Gene |
ENSMUSG00000026526 |
| Gene Name |
fumarate hydratase 1 |
| Synonyms |
fumarase |
| MMRRC Submission |
039614-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1576 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
175428944-175453201 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 175435385 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 366
(P366L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027810
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027810]
|
| AlphaFold |
P97807 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000027810
AA Change: P366L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000027810
Gene: ENSMUSG00000026526
AA Change: P366L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
16 |
N/A |
INTRINSIC |
|
Pfam:Lyase_1
|
55 |
386 |
1.8e-124 |
PFAM |
|
Pfam:FumaraseC_C
|
452 |
505 |
2.5e-29 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130996
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133218
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176740
|
| Meta Mutation Damage Score |
0.9752 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 92.1%
|
| Validation Efficiency |
100% (49/49) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an enzymatic component of the tricarboxylic acid (TCA) cycle, or Krebs cycle, and catalyzes the formation of L-malate from fumarate. It exists in both a cytosolic form and an N-terminal extended form, differing only in the translation start site used. The N-terminal extended form is targeted to the mitochondrion, where the removal of the extension generates the same form as in the cytoplasm. It is similar to some thermostable class II fumarases and functions as a homotetramer. Mutations in this gene can cause fumarase deficiency and lead to progressive encephalopathy. [provided by RefSeq, Jul 2008]
PHENOTYPE: Embryos homozygous for a knock-out allele fail to develop past the egg-cylinder stage and die at E6.0. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap3m2 |
G |
A |
8: 23,298,483 (GRCm39) |
|
probably benign |
Het |
| Apol11a |
T |
A |
15: 77,401,131 (GRCm39) |
I206N |
probably damaging |
Het |
| Arfgap3 |
A |
G |
15: 83,197,764 (GRCm39) |
S331P |
possibly damaging |
Het |
| Arhgef16 |
A |
C |
4: 154,375,769 (GRCm39) |
L75R |
probably damaging |
Het |
| Cfi |
T |
C |
3: 129,666,699 (GRCm39) |
V474A |
probably damaging |
Het |
| Dhx8 |
T |
C |
11: 101,643,145 (GRCm39) |
V739A |
probably damaging |
Het |
| Dpy19l2 |
T |
A |
9: 24,495,798 (GRCm39) |
H640L |
probably benign |
Het |
| Eif4g3 |
T |
A |
4: 137,824,181 (GRCm39) |
M57K |
probably damaging |
Het |
| Emilin2 |
A |
G |
17: 71,562,112 (GRCm39) |
|
probably null |
Het |
| Epc1 |
T |
C |
18: 6,452,366 (GRCm39) |
E281G |
possibly damaging |
Het |
| Fancd2 |
G |
T |
6: 113,555,366 (GRCm39) |
S1125I |
probably damaging |
Het |
| Gata3 |
A |
T |
2: 9,868,007 (GRCm39) |
S316T |
probably damaging |
Het |
| Hmcn1 |
A |
T |
1: 150,532,992 (GRCm39) |
S3064T |
possibly damaging |
Het |
| Inpp5d |
A |
T |
1: 87,597,407 (GRCm39) |
T193S |
probably benign |
Het |
| Inpp5d |
A |
T |
1: 87,609,280 (GRCm39) |
I277F |
probably damaging |
Het |
| Itga5 |
T |
C |
15: 103,260,044 (GRCm39) |
D616G |
probably damaging |
Het |
| Jade1 |
T |
A |
3: 41,546,242 (GRCm39) |
V89E |
probably damaging |
Het |
| Lamb2 |
T |
C |
9: 108,357,506 (GRCm39) |
S81P |
probably damaging |
Het |
| Lrrc19 |
G |
A |
4: 94,527,590 (GRCm39) |
P207L |
probably damaging |
Het |
| Maea |
A |
G |
5: 33,520,040 (GRCm39) |
D147G |
probably damaging |
Het |
| Muc6 |
T |
A |
7: 141,214,437 (GRCm39) |
E2767V |
possibly damaging |
Het |
| Myom2 |
A |
G |
8: 15,134,556 (GRCm39) |
Y453C |
probably damaging |
Het |
| Naip2 |
G |
A |
13: 100,291,537 (GRCm39) |
|
probably benign |
Het |
| Naip2 |
A |
T |
13: 100,291,529 (GRCm39) |
D1136E |
probably benign |
Het |
| Nap1l1 |
A |
G |
10: 111,330,681 (GRCm39) |
D362G |
probably damaging |
Het |
| Nap1l4 |
C |
T |
7: 143,091,953 (GRCm39) |
|
probably null |
Het |
| Nudt21 |
A |
C |
8: 94,755,461 (GRCm39) |
|
probably null |
Het |
| Nufip1 |
A |
G |
14: 76,372,310 (GRCm39) |
N475D |
probably benign |
Het |
| Pcdhb8 |
A |
G |
18: 37,489,756 (GRCm39) |
D478G |
probably damaging |
Het |
| Pla2g4d |
A |
G |
2: 120,114,648 (GRCm39) |
S28P |
probably damaging |
Het |
| Polr2j |
C |
A |
5: 136,148,882 (GRCm39) |
N29K |
probably damaging |
Het |
| Ppp2r2a |
A |
G |
14: 67,276,318 (GRCm39) |
|
probably benign |
Het |
| Ptprk |
A |
G |
10: 28,427,647 (GRCm39) |
D742G |
probably damaging |
Het |
| Pum2 |
A |
G |
12: 8,763,524 (GRCm39) |
D227G |
probably benign |
Het |
| Rfxank |
C |
A |
8: 70,586,953 (GRCm39) |
R221L |
possibly damaging |
Het |
| Shank3 |
C |
A |
15: 89,387,866 (GRCm39) |
Q317K |
probably benign |
Het |
| Slc22a17 |
A |
G |
14: 55,145,447 (GRCm39) |
V460A |
probably damaging |
Het |
| Slc39a11 |
G |
T |
11: 113,450,361 (GRCm39) |
D41E |
probably damaging |
Het |
| Spag17 |
T |
C |
3: 99,846,679 (GRCm39) |
S68P |
possibly damaging |
Het |
| Sstr5 |
C |
T |
17: 25,710,272 (GRCm39) |
C319Y |
possibly damaging |
Het |
| Stk17b |
G |
T |
1: 53,796,749 (GRCm39) |
D339E |
probably damaging |
Het |
| Tagln2 |
A |
G |
1: 172,332,788 (GRCm39) |
D25G |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,625,194 (GRCm39) |
V13417I |
probably benign |
Het |
| Vps50 |
A |
G |
6: 3,545,568 (GRCm39) |
E334G |
possibly damaging |
Het |
| Zfp316 |
T |
C |
5: 143,249,849 (GRCm39) |
E138G |
unknown |
Het |
| Zfp879 |
T |
A |
11: 50,724,376 (GRCm39) |
T227S |
probably benign |
Het |
|
| Other mutations in Fh1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01723:Fh1
|
APN |
1 |
175,429,108 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02637:Fh1
|
APN |
1 |
175,437,332 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02954:Fh1
|
APN |
1 |
175,437,301 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03056:Fh1
|
APN |
1 |
175,433,728 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03309:Fh1
|
APN |
1 |
175,431,609 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0729:Fh1
|
UTSW |
1 |
175,442,383 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1240:Fh1
|
UTSW |
1 |
175,431,581 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1327:Fh1
|
UTSW |
1 |
175,437,310 (GRCm39) |
missense |
probably benign |
0.32 |
|
R1779:Fh1
|
UTSW |
1 |
175,428,990 (GRCm39) |
makesense |
probably null |
|
|
R1823:Fh1
|
UTSW |
1 |
175,444,114 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1851:Fh1
|
UTSW |
1 |
175,435,452 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1943:Fh1
|
UTSW |
1 |
175,437,344 (GRCm39) |
missense |
probably benign |
|
|
R2163:Fh1
|
UTSW |
1 |
175,442,406 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R3766:Fh1
|
UTSW |
1 |
175,442,316 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4193:Fh1
|
UTSW |
1 |
175,442,407 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R4672:Fh1
|
UTSW |
1 |
175,431,617 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4812:Fh1
|
UTSW |
1 |
175,429,025 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4849:Fh1
|
UTSW |
1 |
175,448,072 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4905:Fh1
|
UTSW |
1 |
175,446,639 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4978:Fh1
|
UTSW |
1 |
175,431,533 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6645:Fh1
|
UTSW |
1 |
175,442,442 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6681:Fh1
|
UTSW |
1 |
175,446,690 (GRCm39) |
missense |
probably null |
0.71 |
|
R7075:Fh1
|
UTSW |
1 |
175,435,421 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7646:Fh1
|
UTSW |
1 |
175,442,479 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7783:Fh1
|
UTSW |
1 |
175,439,744 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7862:Fh1
|
UTSW |
1 |
175,442,400 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7991:Fh1
|
UTSW |
1 |
175,437,337 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8694:Fh1
|
UTSW |
1 |
175,448,126 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8765:Fh1
|
UTSW |
1 |
175,435,378 (GRCm39) |
intron |
probably benign |
|
|
R8882:Fh1
|
UTSW |
1 |
175,437,353 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCTCTAGTGTTTGCCACTCTGAC -3'
(R):5'- TGCCCCGAATAAGTTTGAAGCTCTG -3'
Sequencing Primer
(F):5'- TATGGAACTCCACCAGGCTG -3'
(R):5'- AATAAGTTTGAAGCTCTGGCTGC -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation