Incidental Mutation 'R6588:Fhl4'
| ID |
527424 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fhl4
|
| Ensembl Gene |
ENSMUSG00000050035 |
| Gene Name |
four and a half LIM domains 4 |
| Synonyms |
|
| MMRRC Submission |
044712-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.084)
|
| Stock # |
R6588 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
84932883-84938359 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 84933971 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 270
(V270A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150570
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059383]
[ENSMUST00000095383]
[ENSMUST00000216771]
[ENSMUST00000216889]
|
| AlphaFold |
Q8CDC8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000059383
AA Change: V270A
PolyPhen 2
Score 0.503 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000050054
Gene: ENSMUSG00000050035
AA Change: V270A
| Domain | Start | End | E-Value | Type |
|---|
|
LIM
|
38 |
91 |
1.69e-12 |
SMART |
|
LIM
|
99 |
152 |
1.1e-11 |
SMART |
|
LIM
|
160 |
211 |
2e-14 |
SMART |
|
LIM
|
219 |
275 |
9.31e-15 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000095383
|
| SMART Domains |
Protein: ENSMUSP00000093030
Gene: ENSMUSG00000060935
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UPF0444
|
24 |
114 |
1.7e-48 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216771
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000216889
AA Change: V270A
PolyPhen 2
Score 0.503 (Sensitivity: 0.88; Specificity: 0.90)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
T |
C |
13: 77,340,766 (GRCm39) |
S132P |
probably benign |
Het |
| Bean1 |
CT |
C |
8: 104,908,664 (GRCm39) |
|
probably null |
Homo |
| Clcn3 |
T |
C |
8: 61,367,861 (GRCm39) |
I763V |
probably benign |
Het |
| Cpsf1 |
A |
G |
15: 76,481,022 (GRCm39) |
Y1254H |
probably damaging |
Het |
| Erc1 |
C |
T |
6: 119,552,687 (GRCm39) |
A1088T |
possibly damaging |
Het |
| Ghr |
T |
C |
15: 3,349,750 (GRCm39) |
E476G |
probably benign |
Het |
| Ighv1-84 |
T |
A |
12: 115,944,371 (GRCm39) |
Q101L |
probably benign |
Het |
| Itfg1 |
T |
C |
8: 86,462,759 (GRCm39) |
I455V |
probably benign |
Het |
| Kitl |
T |
A |
10: 99,899,954 (GRCm39) |
N86K |
probably damaging |
Het |
| Kmt2c |
C |
T |
5: 25,528,787 (GRCm39) |
G1614E |
probably damaging |
Het |
| Lrrd1 |
A |
G |
5: 3,901,386 (GRCm39) |
S564G |
probably benign |
Het |
| Lsm3 |
GATATATA |
GATATATATA |
6: 91,496,617 (GRCm39) |
|
probably null |
Het |
| Macroh2a1 |
C |
T |
13: 56,252,302 (GRCm39) |
G97D |
possibly damaging |
Het |
| Mms19 |
C |
T |
19: 41,954,715 (GRCm39) |
R68Q |
probably damaging |
Het |
| Or10aa1 |
G |
T |
1: 173,869,844 (GRCm39) |
M109I |
probably benign |
Het |
| Or1o1 |
G |
A |
17: 37,716,796 (GRCm39) |
R119H |
probably benign |
Het |
| Or7e173 |
G |
T |
9: 19,939,162 (GRCm39) |
P24Q |
probably damaging |
Het |
| Urb2 |
G |
T |
8: 124,757,864 (GRCm39) |
E1190D |
probably damaging |
Het |
| Zfp64 |
A |
T |
2: 168,768,827 (GRCm39) |
C262S |
probably damaging |
Het |
|
| Other mutations in Fhl4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01819:Fhl4
|
APN |
10 |
84,934,734 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02623:Fhl4
|
APN |
10 |
84,934,035 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4382001:Fhl4
|
UTSW |
10 |
84,934,293 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0412:Fhl4
|
UTSW |
10 |
84,934,680 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R0514:Fhl4
|
UTSW |
10 |
84,934,250 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1953:Fhl4
|
UTSW |
10 |
84,934,171 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2567:Fhl4
|
UTSW |
10 |
84,934,644 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R3434:Fhl4
|
UTSW |
10 |
84,934,308 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4489:Fhl4
|
UTSW |
10 |
84,934,319 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R4512:Fhl4
|
UTSW |
10 |
84,934,578 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7699:Fhl4
|
UTSW |
10 |
84,934,379 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7699:Fhl4
|
UTSW |
10 |
84,934,113 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8197:Fhl4
|
UTSW |
10 |
84,934,101 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8371:Fhl4
|
UTSW |
10 |
84,934,637 (GRCm39) |
missense |
probably benign |
0.37 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTGAGTAATACTGTAAAGTGTCAG -3'
(R):5'- GGACAGCGTTTCACTGCTATG -3'
Sequencing Primer
(F):5'- TCAGAAAAGACAGAGGAGCAGCTTC -3'
(R):5'- CAGCGTTTCACTGCTATGGATGAC -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation