Incidental Mutation 'IGL01325:Fhod1'
| ID |
74208 |
| 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 # |
IGL01325
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
106055795-106074585 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 106058281 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 825
(M825K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000014922
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014922]
[ENSMUST00000015000]
[ENSMUST00000098453]
[ENSMUST00000109372]
[ENSMUST00000126705]
[ENSMUST00000153146]
|
| AlphaFold |
Q6P9Q4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000014922
AA Change: M825K
PolyPhen 2
Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000014922
Gene: ENSMUSG00000014778
AA Change: M825K
| 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: 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: ENSMUST00000132777
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134837
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136439
|
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930486L24Rik |
T |
C |
13: 61,001,347 (GRCm39) |
T127A |
probably damaging |
Het |
| Acrv1 |
T |
A |
9: 36,609,810 (GRCm39) |
M227K |
probably benign |
Het |
| Adam22 |
T |
C |
5: 8,177,333 (GRCm39) |
N592S |
probably benign |
Het |
| Adamts15 |
T |
A |
9: 30,832,984 (GRCm39) |
I184F |
possibly damaging |
Het |
| Adcy1 |
T |
C |
11: 7,014,102 (GRCm39) |
V168A |
possibly damaging |
Het |
| Arl6ip5 |
T |
C |
6: 97,209,501 (GRCm39) |
F179L |
probably benign |
Het |
| Asxl2 |
G |
T |
12: 3,477,172 (GRCm39) |
R6L |
probably damaging |
Het |
| Btaf1 |
T |
A |
19: 36,982,049 (GRCm39) |
|
probably benign |
Het |
| Ccdc136 |
T |
C |
6: 29,412,949 (GRCm39) |
F445L |
probably benign |
Het |
| Cpne3 |
T |
C |
4: 19,535,229 (GRCm39) |
S268G |
probably benign |
Het |
| Crtc3 |
C |
T |
7: 80,327,116 (GRCm39) |
R70Q |
probably damaging |
Het |
| Fam169a |
C |
A |
13: 97,259,207 (GRCm39) |
A421E |
probably benign |
Het |
| Gjb2 |
T |
C |
14: 57,337,678 (GRCm39) |
T177A |
probably benign |
Het |
| Gm6576 |
A |
G |
15: 27,025,970 (GRCm39) |
|
noncoding transcript |
Het |
| Herpud2 |
A |
G |
9: 25,025,207 (GRCm39) |
V175A |
probably benign |
Het |
| Hmgxb3 |
T |
C |
18: 61,267,078 (GRCm39) |
D1052G |
probably damaging |
Het |
| Itpr1 |
T |
A |
6: 108,358,169 (GRCm39) |
F578L |
probably benign |
Het |
| Kdm7a |
T |
G |
6: 39,135,243 (GRCm39) |
|
probably benign |
Het |
| Krt76 |
A |
T |
15: 101,793,323 (GRCm39) |
S572T |
unknown |
Het |
| Lrrcc1 |
T |
C |
3: 14,601,601 (GRCm39) |
|
probably null |
Het |
| Marchf9 |
A |
C |
10: 126,893,459 (GRCm39) |
V183G |
probably damaging |
Het |
| Mrtfb |
T |
C |
16: 13,219,088 (GRCm39) |
V578A |
probably damaging |
Het |
| Ndufaf6 |
A |
T |
4: 11,070,251 (GRCm39) |
D123E |
probably benign |
Het |
| Nhlh2 |
T |
G |
3: 101,920,342 (GRCm39) |
Y125D |
probably damaging |
Het |
| Nol4l |
A |
G |
2: 153,278,271 (GRCm39) |
|
probably benign |
Het |
| Npas1 |
C |
T |
7: 16,197,247 (GRCm39) |
G206D |
probably benign |
Het |
| Or52h9 |
T |
C |
7: 104,202,896 (GRCm39) |
F257L |
probably damaging |
Het |
| Or5ak24 |
C |
A |
2: 85,260,639 (GRCm39) |
C178F |
possibly damaging |
Het |
| Pcdhb4 |
T |
A |
18: 37,442,676 (GRCm39) |
V662E |
probably damaging |
Het |
| Plxna3 |
G |
A |
X: 73,379,400 (GRCm39) |
G758S |
probably damaging |
Het |
| Prdm15 |
T |
A |
16: 97,607,717 (GRCm39) |
N709Y |
probably damaging |
Het |
| Pygo2 |
C |
T |
3: 89,339,753 (GRCm39) |
|
probably benign |
Het |
| Ranbp2 |
T |
A |
10: 58,312,120 (GRCm39) |
S947T |
probably damaging |
Het |
| Rasgrp1 |
T |
A |
2: 117,129,010 (GRCm39) |
H203L |
probably damaging |
Het |
| Rbbp6 |
G |
A |
7: 122,587,841 (GRCm39) |
G270R |
probably damaging |
Het |
| Rcl1 |
A |
G |
19: 29,098,662 (GRCm39) |
|
probably null |
Het |
| Rpl23a-ps1 |
T |
C |
1: 46,020,793 (GRCm39) |
|
noncoding transcript |
Het |
| Serpinb7 |
T |
G |
1: 107,363,110 (GRCm39) |
H91Q |
probably damaging |
Het |
| Shd |
C |
T |
17: 56,279,839 (GRCm39) |
P111S |
possibly damaging |
Het |
| Slc35e1 |
G |
T |
8: 73,237,602 (GRCm39) |
|
probably benign |
Het |
| Srgap3 |
C |
T |
6: 112,752,647 (GRCm39) |
R279H |
probably damaging |
Het |
| Sstr4 |
G |
A |
2: 148,237,472 (GRCm39) |
E28K |
probably benign |
Het |
| Stip1 |
T |
C |
19: 6,998,464 (GRCm39) |
|
probably benign |
Het |
| Syne2 |
A |
G |
12: 75,973,288 (GRCm39) |
E1097G |
probably benign |
Het |
| Tbcd |
T |
A |
11: 121,431,819 (GRCm39) |
V489E |
probably damaging |
Het |
| Tnks2 |
T |
A |
19: 36,849,033 (GRCm39) |
S516R |
probably benign |
Het |
| Trmt44 |
T |
A |
5: 35,726,147 (GRCm39) |
R343S |
possibly damaging |
Het |
| Trps1 |
A |
G |
15: 50,710,210 (GRCm39) |
S47P |
probably benign |
Het |
| Ubr3 |
A |
C |
2: 69,747,441 (GRCm39) |
K235Q |
possibly damaging |
Het |
| Uckl1 |
G |
A |
2: 181,216,754 (GRCm39) |
Q48* |
probably null |
Het |
| Vat1 |
T |
C |
11: 101,356,541 (GRCm39) |
D140G |
probably benign |
Het |
| Vmn2r80 |
A |
G |
10: 79,030,081 (GRCm39) |
T636A |
possibly damaging |
Het |
| Zfp423 |
A |
T |
8: 88,508,239 (GRCm39) |
|
probably null |
Het |
| Zfp667 |
C |
A |
7: 6,293,545 (GRCm39) |
T15N |
probably damaging |
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 |
|
|
IGL01470:Fhod1
|
APN |
8 |
106,056,281 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01521:Fhod1
|
APN |
8 |
106,057,055 (GRCm39) |
missense |
probably benign |
0.17 |
|
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 |
2013-10-07 |
Incidental Mutation