Incidental Mutation 'R7789:Fhod1'
| ID |
599744 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fhod1
|
| Ensembl Gene |
ENSMUSG00000014778 |
| Gene Name |
formin homology 2 domain containing 1 |
| Synonyms |
|
| MMRRC Submission |
045845-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.214)
|
| Stock # |
R7789 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
106055795-106074585 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 106056740 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 1045
(R1045H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000014922
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014922]
[ENSMUST00000015000]
[ENSMUST00000070508]
[ENSMUST00000098453]
[ENSMUST00000109372]
[ENSMUST00000126705]
[ENSMUST00000153146]
[ENSMUST00000209964]
[ENSMUST00000210412]
[ENSMUST00000210801]
[ENSMUST00000211199]
|
| AlphaFold |
Q6P9Q4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000014922
AA Change: R1045H
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000014922
Gene: ENSMUSG00000014778
AA Change: R1045H
| 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 |
probably benign
Transcript: ENSMUST00000153146
|
| SMART Domains |
Protein: ENSMUSP00000138470
Gene: ENSMUSG00000014856
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF788
|
7 |
100 |
3e-29 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209964
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210412
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210801
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211199
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.5%
|
| Validation Efficiency |
99% (77/78) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930562C15Rik |
G |
A |
16: 4,682,175 (GRCm39) |
E163K |
probably benign |
Het |
| Adam34 |
T |
A |
8: 44,105,488 (GRCm39) |
R52S |
probably benign |
Het |
| Adcy8 |
A |
T |
15: 64,743,623 (GRCm39) |
C328* |
probably null |
Het |
| Ankrd26 |
G |
T |
6: 118,504,759 (GRCm39) |
H717N |
probably damaging |
Het |
| Ankrd26 |
G |
T |
6: 118,504,760 (GRCm39) |
S716R |
possibly damaging |
Het |
| Ankrd40 |
C |
A |
11: 94,225,535 (GRCm39) |
P189T |
probably damaging |
Het |
| Anln |
A |
G |
9: 22,263,333 (GRCm39) |
S113P |
|
Het |
| Arid5b |
C |
T |
10: 67,934,417 (GRCm39) |
G495E |
probably benign |
Het |
| Asxl1 |
C |
T |
2: 153,241,943 (GRCm39) |
T832I |
probably benign |
Het |
| Bicd2 |
C |
T |
13: 49,533,135 (GRCm39) |
R574C |
probably damaging |
Het |
| Boll |
T |
C |
1: 55,399,826 (GRCm39) |
|
probably null |
Het |
| Casr |
A |
G |
16: 36,315,653 (GRCm39) |
F806L |
probably damaging |
Het |
| Casz1 |
C |
A |
4: 149,013,863 (GRCm39) |
N142K |
probably benign |
Het |
| Cbl |
C |
T |
9: 44,074,764 (GRCm39) |
D433N |
probably damaging |
Het |
| Ceacam14 |
T |
A |
7: 17,548,096 (GRCm39) |
V62D |
probably damaging |
Het |
| Chst10 |
T |
C |
1: 38,923,532 (GRCm39) |
N18S |
probably benign |
Het |
| Cyp2j6 |
C |
T |
4: 96,433,953 (GRCm39) |
R119H |
probably benign |
Het |
| Cyp4a14 |
C |
G |
4: 115,352,107 (GRCm39) |
V102L |
probably benign |
Het |
| Dnajb3 |
A |
T |
1: 88,133,399 (GRCm39) |
M1K |
probably null |
Het |
| Dnajc6 |
A |
T |
4: 101,475,729 (GRCm39) |
K534M |
possibly damaging |
Het |
| Dnase2a |
T |
C |
8: 85,635,505 (GRCm39) |
|
probably null |
Het |
| Dock10 |
A |
G |
1: 80,536,930 (GRCm39) |
I985T |
possibly damaging |
Het |
| Emsy |
G |
T |
7: 98,270,696 (GRCm39) |
P436Q |
probably damaging |
Het |
| Enpp1 |
A |
T |
10: 24,529,981 (GRCm39) |
|
probably null |
Het |
| Erc1 |
T |
A |
6: 119,750,670 (GRCm39) |
R353* |
probably null |
Het |
| Fbn2 |
T |
A |
18: 58,172,385 (GRCm39) |
D2140V |
probably benign |
Het |
| Fgfr1 |
T |
A |
8: 26,052,329 (GRCm39) |
Y218* |
probably null |
Het |
| Focad |
G |
T |
4: 88,147,643 (GRCm39) |
L427F |
unknown |
Het |
| Gbf1 |
T |
A |
19: 46,242,441 (GRCm39) |
L144M |
probably damaging |
Het |
| Glmn |
T |
G |
5: 107,696,941 (GRCm39) |
N592T |
probably benign |
Het |
| Golgb1 |
C |
G |
16: 36,695,761 (GRCm39) |
P87A |
unknown |
Het |
| H2bw2 |
G |
A |
X: 135,828,471 (GRCm39) |
R120K |
unknown |
Het |
| Insyn2b |
T |
A |
11: 34,352,537 (GRCm39) |
M193K |
probably benign |
Het |
| Itga9 |
T |
G |
9: 118,487,564 (GRCm39) |
F216V |
possibly damaging |
Het |
| Klhl18 |
T |
C |
9: 110,268,076 (GRCm39) |
D149G |
unknown |
Het |
| Lcat |
C |
T |
8: 106,668,857 (GRCm39) |
V114M |
probably benign |
Het |
| Lrrc8c |
C |
A |
5: 105,755,066 (GRCm39) |
N280K |
probably damaging |
Het |
| Mettl8 |
T |
C |
2: 70,796,806 (GRCm39) |
Y283C |
probably damaging |
Het |
| Mgat4a |
A |
T |
1: 37,529,360 (GRCm39) |
I173K |
probably damaging |
Het |
| Mmp1a |
T |
C |
9: 7,475,266 (GRCm39) |
V345A |
possibly damaging |
Het |
| Mok |
T |
A |
12: 110,778,261 (GRCm39) |
H215L |
probably damaging |
Het |
| Mphosph9 |
C |
G |
5: 124,453,650 (GRCm39) |
E221Q |
probably damaging |
Het |
| Muc4 |
C |
G |
16: 32,575,221 (GRCm39) |
Q1269E |
probably benign |
Het |
| Mug1 |
C |
A |
6: 121,838,179 (GRCm39) |
H470N |
possibly damaging |
Het |
| Myom1 |
A |
G |
17: 71,424,431 (GRCm39) |
T1525A |
probably benign |
Het |
| Nap1l1 |
C |
T |
10: 111,326,317 (GRCm39) |
S143L |
probably benign |
Het |
| Or1af1 |
C |
T |
2: 37,109,672 (GRCm39) |
T57I |
probably benign |
Het |
| Or2j6 |
A |
T |
7: 139,980,610 (GRCm39) |
Y116* |
probably null |
Het |
| Or52d1 |
T |
A |
7: 103,756,195 (GRCm39) |
S236R |
probably damaging |
Het |
| Or7g29 |
G |
T |
9: 19,286,361 (GRCm39) |
T272K |
probably benign |
Het |
| Plbd2 |
T |
C |
5: 120,623,819 (GRCm39) |
S568G |
probably damaging |
Het |
| Plxna4 |
T |
A |
6: 32,183,168 (GRCm39) |
|
probably null |
Het |
| Plxnc1 |
T |
A |
10: 94,630,339 (GRCm39) |
E1520V |
probably damaging |
Het |
| Ppil3 |
G |
A |
1: 58,473,538 (GRCm39) |
T104I |
possibly damaging |
Het |
| Ptprm |
A |
T |
17: 67,402,534 (GRCm39) |
V118E |
probably damaging |
Het |
| Rimbp2 |
T |
C |
5: 128,851,399 (GRCm39) |
D849G |
probably damaging |
Het |
| Rnf213 |
T |
C |
11: 119,361,045 (GRCm39) |
|
probably null |
Het |
| Sema3f |
T |
A |
9: 107,582,631 (GRCm39) |
K37N |
probably benign |
Het |
| Sh3glb1 |
G |
T |
3: 144,397,892 (GRCm39) |
|
probably null |
Het |
| Sh3rf3 |
A |
G |
10: 58,922,637 (GRCm39) |
D571G |
probably benign |
Het |
| Sipa1l3 |
T |
C |
7: 29,077,150 (GRCm39) |
Y874C |
probably damaging |
Het |
| Smchd1 |
G |
A |
17: 71,782,296 (GRCm39) |
|
probably benign |
Het |
| Snrnp70 |
A |
T |
7: 45,026,045 (GRCm39) |
Y441* |
probably null |
Het |
| Ssrp1 |
C |
T |
2: 84,871,525 (GRCm39) |
R316W |
probably damaging |
Het |
| Syt10 |
A |
T |
15: 89,711,101 (GRCm39) |
V144E |
probably damaging |
Het |
| Tdrd12 |
A |
G |
7: 35,188,117 (GRCm39) |
L562P |
|
Het |
| Trim68 |
T |
C |
7: 102,333,676 (GRCm39) |
D2G |
possibly damaging |
Het |
| Trub2 |
T |
A |
2: 29,667,920 (GRCm39) |
H240L |
probably damaging |
Het |
| Tssc4 |
A |
G |
7: 142,623,515 (GRCm39) |
|
probably null |
Het |
| Usp7 |
T |
A |
16: 8,516,675 (GRCm39) |
Q539L |
probably benign |
Het |
| Vmn2r17 |
T |
A |
5: 109,600,831 (GRCm39) |
C710S |
possibly damaging |
Het |
| Vmn2r99 |
G |
T |
17: 19,614,079 (GRCm39) |
V600F |
possibly damaging |
Het |
| Vps13d |
C |
T |
4: 144,826,635 (GRCm39) |
V2879M |
|
Het |
| Vrtn |
T |
A |
12: 84,697,080 (GRCm39) |
M610K |
probably benign |
Het |
| Xpo4 |
T |
C |
14: 57,850,806 (GRCm39) |
E366G |
probably benign |
Het |
| Zyg11a |
G |
A |
4: 108,040,845 (GRCm39) |
P703S |
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 |
|
|
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGCATGATTGTCAGTATCACC -3'
(R):5'- GACTCATGATCCAGTCTCCCAC -3'
Sequencing Primer
(F):5'- AGTATCACCCTGACCTGGC -3'
(R):5'- CCTGCCTAGGTTCCATGC -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation