Incidental Mutation 'IGL01521:Fhod1'
ID |
90525 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Fhod1
|
Ensembl Gene |
ENSMUSG00000014778 |
Gene Name |
formin homology 2 domain containing 1 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.213)
|
Stock # |
IGL01521
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
106055795-106074585 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 106057055 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Valine
at position 973
(A973V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000014922
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014922]
[ENSMUST00000015000]
[ENSMUST00000070508]
[ENSMUST00000098453]
[ENSMUST00000109372]
[ENSMUST00000126705]
[ENSMUST00000211199]
[ENSMUST00000209964]
[ENSMUST00000210412]
[ENSMUST00000210801]
[ENSMUST00000153146]
|
AlphaFold |
Q6P9Q4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000014922
AA Change: A973V
PolyPhen 2
Score 0.171 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000014922 Gene: ENSMUSG00000014778 AA Change: A973V
Domain | Start | End | E-Value | Type |
PDB:3DAD|B
|
1 |
339 |
N/A |
PDB |
Blast:Drf_GBD
|
85 |
216 |
1e-48 |
BLAST |
SCOP:d1ee4a_
|
120 |
240 |
4e-4 |
SMART |
Blast:FH2
|
231 |
318 |
6e-38 |
BLAST |
low complexity region
|
342 |
357 |
N/A |
INTRINSIC |
Blast:FH2
|
386 |
483 |
2e-10 |
BLAST |
low complexity region
|
514 |
532 |
N/A |
INTRINSIC |
low complexity region
|
573 |
643 |
N/A |
INTRINSIC |
FH2
|
648 |
1100 |
3.16e-121 |
SMART |
low complexity region
|
1119 |
1130 |
N/A |
INTRINSIC |
Blast:FH2
|
1135 |
1179 |
1e-6 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000015000
|
SMART Domains |
Protein: ENSMUSP00000015000 Gene: ENSMUSG00000014856
Domain | Start | End | E-Value | Type |
Pfam:DUF788
|
7 |
171 |
1.1e-53 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000070508
|
SMART Domains |
Protein: ENSMUSP00000063248 Gene: ENSMUSG00000041679
Domain | Start | End | E-Value | Type |
LRR
|
42 |
67 |
7.15e-2 |
SMART |
LRR
|
68 |
93 |
1.92e-2 |
SMART |
LRR
|
94 |
119 |
1.23e0 |
SMART |
LRR
|
120 |
145 |
1.56e2 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000098453
|
SMART Domains |
Protein: ENSMUSP00000096052 Gene: ENSMUSG00000014856
Domain | Start | End | E-Value | Type |
Pfam:DUF788
|
7 |
103 |
3.7e-29 |
PFAM |
low complexity region
|
118 |
133 |
N/A |
INTRINSIC |
low complexity region
|
135 |
149 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000109372
|
SMART Domains |
Protein: ENSMUSP00000104997 Gene: ENSMUSG00000014856
Domain | Start | End | E-Value | Type |
Pfam:DUF788
|
7 |
103 |
4.2e-30 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000126705
|
SMART Domains |
Protein: ENSMUSP00000138226 Gene: ENSMUSG00000014856
Domain | Start | End | E-Value | Type |
Pfam:DUF788
|
7 |
100 |
3e-29 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134837
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000211199
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132777
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000209964
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000210412
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000210801
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000153146
|
SMART Domains |
Protein: ENSMUSP00000138470 Gene: ENSMUSG00000014856
Domain | Start | End | E-Value | Type |
Pfam:DUF788
|
7 |
100 |
3e-29 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aars1 |
A |
T |
8: 111,770,419 (GRCm39) |
I406F |
possibly damaging |
Het |
Adgrb2 |
A |
G |
4: 129,886,085 (GRCm39) |
E75G |
probably damaging |
Het |
Angptl2 |
T |
C |
2: 33,136,215 (GRCm39) |
Y467H |
probably damaging |
Het |
Arap1 |
G |
T |
7: 101,049,812 (GRCm39) |
|
probably null |
Het |
Arfgap1 |
G |
A |
2: 180,613,371 (GRCm39) |
C22Y |
probably damaging |
Het |
Artn |
G |
A |
4: 117,784,484 (GRCm39) |
P25S |
probably damaging |
Het |
Bicra |
G |
T |
7: 15,723,113 (GRCm39) |
Q135K |
probably benign |
Het |
Clpx |
T |
C |
9: 65,226,026 (GRCm39) |
V367A |
probably damaging |
Het |
Clstn3 |
C |
T |
6: 124,434,990 (GRCm39) |
W308* |
probably null |
Het |
Cpb2 |
T |
A |
14: 75,495,071 (GRCm39) |
V67D |
probably damaging |
Het |
Cyp2c38 |
A |
G |
19: 39,449,114 (GRCm39) |
Y80H |
probably damaging |
Het |
Dbt |
A |
G |
3: 116,327,032 (GRCm39) |
D127G |
probably benign |
Het |
Elp1 |
T |
A |
4: 56,771,059 (GRCm39) |
E961D |
probably benign |
Het |
Flacc1 |
T |
G |
1: 58,709,553 (GRCm39) |
K201Q |
probably damaging |
Het |
Focad |
A |
T |
4: 88,328,927 (GRCm39) |
*1713C |
probably null |
Het |
Gemin5 |
A |
T |
11: 58,025,744 (GRCm39) |
|
probably benign |
Het |
Gpr22 |
C |
T |
12: 31,758,709 (GRCm39) |
|
probably benign |
Het |
Kif23 |
T |
A |
9: 61,827,182 (GRCm39) |
T890S |
probably damaging |
Het |
Kmt5b |
T |
A |
19: 3,836,618 (GRCm39) |
S52T |
possibly damaging |
Het |
Lipo3 |
A |
T |
19: 33,763,083 (GRCm39) |
D53E |
probably damaging |
Het |
Lrrc14b |
G |
A |
13: 74,511,691 (GRCm39) |
R130C |
probably damaging |
Het |
Myt1 |
T |
A |
2: 181,467,704 (GRCm39) |
I1046K |
probably damaging |
Het |
Napsa |
A |
T |
7: 44,236,061 (GRCm39) |
I367F |
probably damaging |
Het |
Or5aq1b |
C |
T |
2: 86,902,077 (GRCm39) |
V134I |
probably benign |
Het |
Or8b56 |
A |
T |
9: 38,739,185 (GRCm39) |
Y66F |
probably damaging |
Het |
Rgcc |
T |
G |
14: 79,538,185 (GRCm39) |
S69R |
probably damaging |
Het |
Rin3 |
T |
A |
12: 102,335,307 (GRCm39) |
I326N |
probably benign |
Het |
Sipa1 |
C |
A |
19: 5,711,006 (GRCm39) |
M1I |
probably null |
Het |
Sirpb1a |
T |
A |
3: 15,475,561 (GRCm39) |
M325L |
probably benign |
Het |
Sult1a1 |
C |
A |
7: 126,274,451 (GRCm39) |
V71F |
possibly damaging |
Het |
Tgds |
G |
T |
14: 118,350,506 (GRCm39) |
P349Q |
probably damaging |
Het |
Tmem63c |
T |
A |
12: 87,115,918 (GRCm39) |
H186Q |
probably damaging |
Het |
Trappc9 |
A |
G |
15: 72,924,016 (GRCm39) |
L242S |
probably damaging |
Het |
Trip12 |
T |
A |
1: 84,743,919 (GRCm39) |
|
probably benign |
Het |
Zfp451 |
T |
C |
1: 33,816,412 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Fhod1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00970:Fhod1
|
APN |
8 |
106,058,734 (GRCm39) |
missense |
possibly damaging |
0.66 |
IGL01149:Fhod1
|
APN |
8 |
106,074,439 (GRCm39) |
unclassified |
probably benign |
|
IGL01325:Fhod1
|
APN |
8 |
106,058,281 (GRCm39) |
missense |
probably benign |
0.33 |
IGL01470:Fhod1
|
APN |
8 |
106,056,281 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01861:Fhod1
|
APN |
8 |
106,057,808 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02864:Fhod1
|
APN |
8 |
106,063,796 (GRCm39) |
unclassified |
probably benign |
|
IGL02951:Fhod1
|
APN |
8 |
106,057,862 (GRCm39) |
missense |
probably damaging |
1.00 |
reactive
|
UTSW |
8 |
106,063,066 (GRCm39) |
unclassified |
probably benign |
|
treason
|
UTSW |
8 |
106,063,982 (GRCm39) |
unclassified |
probably benign |
|
R0016:Fhod1
|
UTSW |
8 |
106,058,287 (GRCm39) |
missense |
possibly damaging |
0.91 |
R0016:Fhod1
|
UTSW |
8 |
106,058,287 (GRCm39) |
missense |
possibly damaging |
0.91 |
R0071:Fhod1
|
UTSW |
8 |
106,063,857 (GRCm39) |
splice site |
probably null |
|
R0071:Fhod1
|
UTSW |
8 |
106,063,857 (GRCm39) |
splice site |
probably null |
|
R0498:Fhod1
|
UTSW |
8 |
106,056,488 (GRCm39) |
missense |
probably damaging |
1.00 |
R1234:Fhod1
|
UTSW |
8 |
106,063,795 (GRCm39) |
unclassified |
probably benign |
|
R1465:Fhod1
|
UTSW |
8 |
106,065,546 (GRCm39) |
unclassified |
probably benign |
|
R1465:Fhod1
|
UTSW |
8 |
106,065,546 (GRCm39) |
unclassified |
probably benign |
|
R1485:Fhod1
|
UTSW |
8 |
106,063,430 (GRCm39) |
critical splice acceptor site |
probably null |
|
R1585:Fhod1
|
UTSW |
8 |
106,063,957 (GRCm39) |
unclassified |
probably benign |
|
R1615:Fhod1
|
UTSW |
8 |
106,074,463 (GRCm39) |
unclassified |
probably benign |
|
R1778:Fhod1
|
UTSW |
8 |
106,056,309 (GRCm39) |
missense |
probably damaging |
1.00 |
R1781:Fhod1
|
UTSW |
8 |
106,074,421 (GRCm39) |
unclassified |
probably benign |
|
R2291:Fhod1
|
UTSW |
8 |
106,063,596 (GRCm39) |
unclassified |
probably benign |
|
R2864:Fhod1
|
UTSW |
8 |
106,059,543 (GRCm39) |
missense |
probably null |
0.97 |
R2865:Fhod1
|
UTSW |
8 |
106,059,543 (GRCm39) |
missense |
probably null |
0.97 |
R3775:Fhod1
|
UTSW |
8 |
106,058,270 (GRCm39) |
unclassified |
probably benign |
|
R4107:Fhod1
|
UTSW |
8 |
106,064,670 (GRCm39) |
unclassified |
probably benign |
|
R4422:Fhod1
|
UTSW |
8 |
106,063,983 (GRCm39) |
unclassified |
probably benign |
|
R4423:Fhod1
|
UTSW |
8 |
106,063,983 (GRCm39) |
unclassified |
probably benign |
|
R4424:Fhod1
|
UTSW |
8 |
106,063,983 (GRCm39) |
unclassified |
probably benign |
|
R4425:Fhod1
|
UTSW |
8 |
106,063,983 (GRCm39) |
unclassified |
probably benign |
|
R4641:Fhod1
|
UTSW |
8 |
106,056,224 (GRCm39) |
missense |
probably damaging |
1.00 |
R4724:Fhod1
|
UTSW |
8 |
106,064,493 (GRCm39) |
unclassified |
probably benign |
|
R4757:Fhod1
|
UTSW |
8 |
106,074,443 (GRCm39) |
unclassified |
probably benign |
|
R5004:Fhod1
|
UTSW |
8 |
106,063,577 (GRCm39) |
unclassified |
probably benign |
|
R5082:Fhod1
|
UTSW |
8 |
106,057,145 (GRCm39) |
missense |
probably damaging |
1.00 |
R6033:Fhod1
|
UTSW |
8 |
106,063,066 (GRCm39) |
unclassified |
probably benign |
|
R6033:Fhod1
|
UTSW |
8 |
106,063,066 (GRCm39) |
unclassified |
probably benign |
|
R6298:Fhod1
|
UTSW |
8 |
106,063,780 (GRCm39) |
unclassified |
probably benign |
|
R6320:Fhod1
|
UTSW |
8 |
106,063,982 (GRCm39) |
unclassified |
probably benign |
|
R6362:Fhod1
|
UTSW |
8 |
106,058,273 (GRCm39) |
critical splice donor site |
probably null |
|
R6449:Fhod1
|
UTSW |
8 |
106,056,869 (GRCm39) |
missense |
probably damaging |
1.00 |
R6736:Fhod1
|
UTSW |
8 |
106,064,522 (GRCm39) |
unclassified |
probably benign |
|
R6816:Fhod1
|
UTSW |
8 |
106,057,176 (GRCm39) |
missense |
probably benign |
0.10 |
R6955:Fhod1
|
UTSW |
8 |
106,059,639 (GRCm39) |
missense |
probably benign |
0.00 |
R7073:Fhod1
|
UTSW |
8 |
106,063,771 (GRCm39) |
missense |
unknown |
|
R7567:Fhod1
|
UTSW |
8 |
106,074,469 (GRCm39) |
missense |
unknown |
|
R7697:Fhod1
|
UTSW |
8 |
106,074,563 (GRCm39) |
unclassified |
probably benign |
|
R7789:Fhod1
|
UTSW |
8 |
106,056,740 (GRCm39) |
missense |
probably damaging |
1.00 |
R7894:Fhod1
|
UTSW |
8 |
106,057,789 (GRCm39) |
missense |
probably damaging |
1.00 |
R8105:Fhod1
|
UTSW |
8 |
106,063,847 (GRCm39) |
missense |
unknown |
|
R8835:Fhod1
|
UTSW |
8 |
106,065,484 (GRCm39) |
critical splice donor site |
probably null |
|
R9200:Fhod1
|
UTSW |
8 |
106,058,072 (GRCm39) |
missense |
probably benign |
0.03 |
R9266:Fhod1
|
UTSW |
8 |
106,065,531 (GRCm39) |
missense |
unknown |
|
R9426:Fhod1
|
UTSW |
8 |
106,056,490 (GRCm39) |
missense |
probably benign |
0.31 |
R9429:Fhod1
|
UTSW |
8 |
106,057,139 (GRCm39) |
missense |
probably damaging |
1.00 |
R9507:Fhod1
|
UTSW |
8 |
106,064,694 (GRCm39) |
nonsense |
probably null |
|
R9562:Fhod1
|
UTSW |
8 |
106,074,422 (GRCm39) |
missense |
unknown |
|
R9566:Fhod1
|
UTSW |
8 |
106,064,516 (GRCm39) |
missense |
unknown |
|
R9736:Fhod1
|
UTSW |
8 |
106,059,597 (GRCm39) |
missense |
probably damaging |
1.00 |
R9739:Fhod1
|
UTSW |
8 |
106,064,378 (GRCm39) |
missense |
unknown |
|
R9746:Fhod1
|
UTSW |
8 |
106,064,048 (GRCm39) |
missense |
unknown |
|
R9748:Fhod1
|
UTSW |
8 |
106,058,323 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2013-12-09 |