Incidental Mutation 'R1615:Fhod1'
| ID |
177053 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fhod1
|
| Ensembl Gene |
ENSMUSG00000014778 |
| Gene Name |
formin homology 2 domain containing 1 |
| Synonyms |
|
| MMRRC Submission |
039652-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.213)
|
| Stock # |
R1615 (G1)
|
| Quality Score |
183 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
106055795-106074585 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
C to T
at 106074463 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000072893
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014922]
[ENSMUST00000073149]
|
| AlphaFold |
Q6P9Q4 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000014922
AA Change: G8E
|
| SMART Domains |
Protein: ENSMUSP00000014922
Gene: ENSMUSG00000014778
AA Change: G8E
| 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: ENSMUST00000073149
|
| SMART Domains |
Protein: ENSMUSP00000072893
Gene: ENSMUSG00000014786
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
low complexity region
|
28 |
39 |
N/A |
INTRINSIC |
|
Pfam:Na_H_Exchanger
|
53 |
458 |
9.8e-89 |
PFAM |
|
low complexity region
|
705 |
723 |
N/A |
INTRINSIC |
|
low complexity region
|
807 |
823 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132777
|
| Meta Mutation Damage Score |
0.0810 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.3%
- 20x: 88.8%
|
| Validation Efficiency |
98% (64/65) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy8 |
A |
T |
15: 64,743,625 (GRCm39) |
C328S |
probably benign |
Het |
| Adgrv1 |
G |
T |
13: 81,572,407 (GRCm39) |
T4918K |
probably benign |
Het |
| Aen |
T |
C |
7: 78,555,660 (GRCm39) |
Y108H |
probably damaging |
Het |
| Amer3 |
T |
C |
1: 34,627,252 (GRCm39) |
M497T |
probably damaging |
Het |
| Arid2 |
C |
T |
15: 96,269,535 (GRCm39) |
T1216M |
possibly damaging |
Het |
| Birc6 |
A |
G |
17: 74,916,404 (GRCm39) |
|
probably null |
Het |
| Bzw2 |
A |
G |
12: 36,169,126 (GRCm39) |
|
probably benign |
Het |
| Ccr1 |
T |
C |
9: 123,763,573 (GRCm39) |
H319R |
probably benign |
Het |
| Dnah11 |
A |
G |
12: 118,014,457 (GRCm39) |
I2010T |
probably damaging |
Het |
| Dnhd1 |
A |
G |
7: 105,352,413 (GRCm39) |
Y2522C |
probably benign |
Het |
| Dnhd1 |
T |
A |
7: 105,362,913 (GRCm39) |
I3825K |
possibly damaging |
Het |
| Dst |
A |
T |
1: 34,238,452 (GRCm39) |
D3718V |
probably damaging |
Het |
| Esp36 |
A |
G |
17: 38,730,330 (GRCm39) |
|
probably benign |
Het |
| Fbxw21 |
T |
C |
9: 108,972,794 (GRCm39) |
Y380C |
probably damaging |
Het |
| Fhad1 |
G |
A |
4: 141,649,634 (GRCm39) |
T836M |
probably damaging |
Het |
| Flt1 |
A |
G |
5: 147,576,098 (GRCm39) |
C637R |
probably damaging |
Het |
| Fmnl2 |
A |
G |
2: 53,008,436 (GRCm39) |
K809E |
probably damaging |
Het |
| Grm1 |
G |
T |
10: 10,617,252 (GRCm39) |
Y510* |
probably null |
Het |
| Hey1 |
A |
T |
3: 8,729,898 (GRCm39) |
H186Q |
possibly damaging |
Het |
| Insyn1 |
C |
T |
9: 58,406,351 (GRCm39) |
A87V |
probably damaging |
Het |
| Itga2b |
C |
T |
11: 102,350,963 (GRCm39) |
|
probably null |
Het |
| Kcnv1 |
G |
A |
15: 44,977,840 (GRCm39) |
T66M |
probably damaging |
Het |
| Lmcd1 |
A |
G |
6: 112,250,911 (GRCm39) |
D7G |
probably benign |
Het |
| Lrrc1 |
T |
C |
9: 77,342,400 (GRCm39) |
D358G |
possibly damaging |
Het |
| Lyn |
A |
G |
4: 3,748,765 (GRCm39) |
K248E |
probably benign |
Het |
| Map4k4 |
A |
G |
1: 40,045,990 (GRCm39) |
|
probably benign |
Het |
| Map4k5 |
A |
T |
12: 69,891,187 (GRCm39) |
L160H |
probably damaging |
Het |
| Mtcl2 |
T |
G |
2: 156,862,663 (GRCm39) |
H1422P |
probably damaging |
Het |
| Myo6 |
C |
T |
9: 80,215,007 (GRCm39) |
R1247C |
probably damaging |
Het |
| Myo9a |
A |
G |
9: 59,695,739 (GRCm39) |
E347G |
possibly damaging |
Het |
| Ndfip1 |
C |
T |
18: 38,593,672 (GRCm39) |
P213S |
probably benign |
Het |
| Neurl3 |
T |
C |
1: 36,308,470 (GRCm39) |
E114G |
possibly damaging |
Het |
| Nlrp14 |
A |
T |
7: 106,795,370 (GRCm39) |
I877F |
probably benign |
Het |
| Obscn |
A |
G |
11: 58,990,651 (GRCm39) |
S1733P |
probably benign |
Het |
| Oxgr1 |
A |
T |
14: 120,260,185 (GRCm39) |
S7R |
probably benign |
Het |
| Plcb1 |
A |
T |
2: 135,204,364 (GRCm39) |
|
probably benign |
Het |
| Prkag2 |
G |
T |
5: 25,080,176 (GRCm39) |
N120K |
possibly damaging |
Het |
| Rnf43 |
C |
T |
11: 87,622,485 (GRCm39) |
R529* |
probably null |
Het |
| Saraf |
A |
G |
8: 34,632,442 (GRCm39) |
K174E |
possibly damaging |
Het |
| Scrib |
T |
C |
15: 75,938,054 (GRCm39) |
Q264R |
probably benign |
Het |
| Sh3rf3 |
T |
A |
10: 58,966,899 (GRCm39) |
M747K |
probably benign |
Het |
| Shf |
T |
C |
2: 122,179,913 (GRCm39) |
H421R |
probably damaging |
Het |
| Slc35g3 |
A |
G |
11: 69,651,368 (GRCm39) |
S228P |
probably damaging |
Het |
| Slit1 |
A |
G |
19: 41,639,110 (GRCm39) |
|
probably benign |
Het |
| Srrm4 |
A |
G |
5: 116,585,359 (GRCm39) |
|
probably benign |
Het |
| Stfa1 |
T |
G |
16: 36,100,829 (GRCm39) |
V23G |
probably damaging |
Het |
| Swap70 |
A |
G |
7: 109,872,498 (GRCm39) |
D371G |
probably benign |
Het |
| Tada2a |
T |
C |
11: 83,993,926 (GRCm39) |
D186G |
probably damaging |
Het |
| Tdpoz3 |
C |
A |
3: 93,733,618 (GRCm39) |
Q98K |
probably benign |
Het |
| Tgfbrap1 |
A |
G |
1: 43,091,145 (GRCm39) |
V660A |
probably benign |
Het |
| Tnn |
A |
G |
1: 159,945,978 (GRCm39) |
Y947H |
possibly damaging |
Het |
| Trim60 |
A |
T |
8: 65,453,162 (GRCm39) |
C362* |
probably null |
Het |
| Vmn1r81 |
T |
A |
7: 11,994,441 (GRCm39) |
N56Y |
probably damaging |
Het |
| Vsig8 |
A |
G |
1: 172,387,280 (GRCm39) |
D52G |
probably damaging |
Het |
| Wdfy4 |
G |
A |
14: 32,764,469 (GRCm39) |
R2140C |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCTAGAAGCACTGTCTGTCCACC -3'
(R):5'- CAATGGAACTAACGGGATCACCAGC -3'
Sequencing Primer
(F):5'- CCCTCACCTTAAGAGGCG -3'
(R):5'- GATCACCAGCTCTCTGAGTG -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation