Incidental Mutation 'R0592:Fhl3'
ID |
56017 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fhl3
|
Ensembl Gene |
ENSMUSG00000032643 |
Gene Name |
four and a half LIM domains 3 |
Synonyms |
|
MMRRC Submission |
038782-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.092)
|
Stock # |
R0592 (G1)
|
Quality Score |
126 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
124594494-124602404 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 124599470 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 15
(Y15C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000101805
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038684]
[ENSMUST00000106199]
[ENSMUST00000145942]
|
AlphaFold |
Q9R059 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000038684
AA Change: Y15C
PolyPhen 2
Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000040150 Gene: ENSMUSG00000032643 AA Change: Y15C
Domain | Start | End | E-Value | Type |
LIM
|
39 |
92 |
2.7e-11 |
SMART |
LIM
|
100 |
153 |
1.67e-16 |
SMART |
LIM
|
161 |
212 |
4.48e-17 |
SMART |
LIM
|
220 |
284 |
2.91e-16 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000106199
AA Change: Y15C
PolyPhen 2
Score 0.233 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000101805 Gene: ENSMUSG00000032643 AA Change: Y15C
Domain | Start | End | E-Value | Type |
LIM
|
39 |
92 |
2.7e-11 |
SMART |
LIM
|
100 |
153 |
1.67e-16 |
SMART |
LIM
|
161 |
212 |
4.48e-17 |
SMART |
LIM
|
220 |
275 |
8.49e-18 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000145942
AA Change: Y15C
PolyPhen 2
Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000121702 Gene: ENSMUSG00000032643 AA Change: Y15C
Domain | Start | End | E-Value | Type |
Blast:LIM
|
1 |
31 |
5e-6 |
BLAST |
LIM
|
39 |
92 |
2.7e-11 |
SMART |
|
Meta Mutation Damage Score |
0.1045 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.5%
- 20x: 95.0%
|
Validation Efficiency |
100% (35/35) |
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 a member of a family of proteins containing a four-and-a-half LIM domain, which is a highly conserved double zinc finger motif. The encoded protein has been shown to interact with the cancer developmental regulators SMAD2, SMAD3, and SMAD4, the skeletal muscle myogenesis protein MyoD, and the high-affinity IgE beta chain regulator MZF-1. This protein may be involved in tumor suppression, repression of MyoD expression, and repression of IgE receptor expression. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atg2a |
GCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC |
GCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC |
19: 6,295,037 (GRCm39) |
|
probably benign |
Het |
Bbs7 |
A |
T |
3: 36,664,446 (GRCm39) |
V53D |
probably benign |
Het |
Bglap |
T |
A |
3: 88,290,962 (GRCm39) |
I90F |
probably benign |
Het |
C2cd4b |
G |
A |
9: 67,667,973 (GRCm39) |
R323H |
probably damaging |
Het |
Cdh5 |
T |
A |
8: 104,857,534 (GRCm39) |
|
probably null |
Het |
Cdh8 |
T |
A |
8: 100,006,110 (GRCm39) |
D159V |
probably damaging |
Het |
Dnah7a |
A |
G |
1: 53,495,771 (GRCm39) |
Y3229H |
possibly damaging |
Het |
Dzip1 |
T |
C |
14: 119,139,551 (GRCm39) |
E381G |
probably damaging |
Het |
Elmod1 |
A |
G |
9: 53,833,390 (GRCm39) |
|
probably benign |
Het |
Exosc10 |
T |
C |
4: 148,665,570 (GRCm39) |
S811P |
probably benign |
Het |
Gstz1 |
G |
A |
12: 87,210,495 (GRCm39) |
S126N |
probably benign |
Het |
Hey2 |
C |
A |
10: 30,709,953 (GRCm39) |
A267S |
probably benign |
Het |
Iqce |
A |
T |
5: 140,671,862 (GRCm39) |
|
probably null |
Het |
Katnal2 |
A |
T |
18: 77,090,256 (GRCm39) |
|
probably null |
Het |
Kdm2b |
G |
A |
5: 123,099,197 (GRCm39) |
|
probably benign |
Het |
Mov10l1 |
A |
G |
15: 88,882,969 (GRCm39) |
|
probably null |
Het |
Numa1 |
A |
G |
7: 101,663,104 (GRCm39) |
T724A |
probably benign |
Het |
Oas3 |
A |
G |
5: 120,909,214 (GRCm39) |
F244S |
probably damaging |
Het |
Or2d2 |
G |
A |
7: 106,728,550 (GRCm39) |
L17F |
probably benign |
Het |
Or5b117 |
T |
C |
19: 13,431,069 (GRCm39) |
I271V |
probably benign |
Het |
Rab37 |
T |
G |
11: 115,051,349 (GRCm39) |
|
probably benign |
Het |
Riox2 |
T |
C |
16: 59,309,942 (GRCm39) |
|
probably benign |
Het |
Ryr3 |
A |
G |
2: 112,508,826 (GRCm39) |
S3358P |
probably damaging |
Het |
Sash1 |
T |
A |
10: 8,605,546 (GRCm39) |
H948L |
probably benign |
Het |
Serpinb6e |
T |
A |
13: 34,025,057 (GRCm39) |
N78I |
probably damaging |
Het |
Slc25a47 |
G |
A |
12: 108,820,184 (GRCm39) |
V63M |
probably damaging |
Het |
Slc9b1 |
A |
T |
3: 135,099,835 (GRCm39) |
|
probably benign |
Het |
Strip2 |
T |
A |
6: 29,931,209 (GRCm39) |
S387T |
probably benign |
Het |
Tcaf3 |
T |
C |
6: 42,573,777 (GRCm39) |
N145S |
probably benign |
Het |
Tex10 |
C |
T |
4: 48,456,800 (GRCm39) |
R637Q |
probably benign |
Het |
Trmu |
T |
C |
15: 85,781,027 (GRCm39) |
|
probably benign |
Het |
Vezf1 |
A |
T |
11: 88,068,435 (GRCm38) |
|
probably benign |
Het |
Vmn2r116 |
C |
T |
17: 23,605,889 (GRCm39) |
T267I |
probably damaging |
Het |
Whrn |
C |
A |
4: 63,333,804 (GRCm39) |
A450S |
probably damaging |
Het |
Ypel1 |
A |
G |
16: 16,925,083 (GRCm39) |
S30P |
probably benign |
Het |
|
Other mutations in Fhl3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R1118:Fhl3
|
UTSW |
4 |
124,599,584 (GRCm39) |
critical splice donor site |
probably null |
|
R2402:Fhl3
|
UTSW |
4 |
124,599,481 (GRCm39) |
missense |
probably damaging |
1.00 |
R2921:Fhl3
|
UTSW |
4 |
124,599,463 (GRCm39) |
missense |
probably damaging |
1.00 |
R2923:Fhl3
|
UTSW |
4 |
124,599,463 (GRCm39) |
missense |
probably damaging |
1.00 |
R4583:Fhl3
|
UTSW |
4 |
124,601,342 (GRCm39) |
missense |
probably benign |
0.41 |
R5147:Fhl3
|
UTSW |
4 |
124,601,724 (GRCm39) |
missense |
probably benign |
0.01 |
R5460:Fhl3
|
UTSW |
4 |
124,599,796 (GRCm39) |
missense |
probably damaging |
1.00 |
R5932:Fhl3
|
UTSW |
4 |
124,599,520 (GRCm39) |
missense |
probably damaging |
1.00 |
R6855:Fhl3
|
UTSW |
4 |
124,601,315 (GRCm39) |
missense |
probably benign |
0.00 |
R9267:Fhl3
|
UTSW |
4 |
124,601,498 (GRCm39) |
critical splice donor site |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- TGGAAGATTCGAGCATACATGGAGC -3'
(R):5'- TGGAAGTGGCGGTCCTCATAGAAC -3'
Sequencing Primer
(F):5'- CGAGCATACATGGAGCCTACTG -3'
(R):5'- GCGGTCCTCATAGAACAGTTCC -3'
|
Posted On |
2013-07-11 |