Incidental Mutation 'R4423:Fhod1'
ID |
327208 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fhod1
|
Ensembl Gene |
ENSMUSG00000014778 |
Gene Name |
formin homology 2 domain containing 1 |
Synonyms |
|
MMRRC Submission |
041143-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.213)
|
Stock # |
R4423 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
106055795-106074585 bp(-) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
T to C
at 106063983 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000104997
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014922]
[ENSMUST00000098453]
[ENSMUST00000109372]
|
AlphaFold |
Q6P9Q4 |
Predicted Effect |
unknown
Transcript: ENSMUST00000014922
AA Change: I241V
|
SMART Domains |
Protein: ENSMUSP00000014922 Gene: ENSMUSG00000014778 AA Change: I241V
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: 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 |
noncoding transcript
Transcript: ENSMUST00000132777
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136439
|
Meta Mutation Damage Score |
0.0824 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
Validation Efficiency |
100% (57/57) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700017N19Rik |
C |
A |
10: 100,441,495 (GRCm39) |
P100Q |
probably damaging |
Het |
A630010A05Rik |
A |
G |
16: 14,436,577 (GRCm39) |
Y210C |
probably benign |
Het |
Arfgap1 |
C |
A |
2: 180,622,869 (GRCm39) |
D327E |
probably benign |
Het |
Arhgef9 |
T |
G |
X: 94,144,670 (GRCm39) |
I131L |
possibly damaging |
Het |
Asgr2 |
G |
A |
11: 69,996,211 (GRCm39) |
V218I |
probably benign |
Het |
Capns2 |
T |
A |
8: 93,628,252 (GRCm39) |
I47N |
possibly damaging |
Het |
Cep44 |
G |
A |
8: 56,991,652 (GRCm39) |
P317S |
probably benign |
Het |
Cfap144 |
A |
T |
11: 58,687,357 (GRCm39) |
|
probably null |
Het |
Cnot10 |
T |
A |
9: 114,446,988 (GRCm39) |
I363F |
probably damaging |
Het |
Coch |
T |
A |
12: 51,644,932 (GRCm39) |
|
probably null |
Het |
Dnah1 |
C |
T |
14: 31,006,718 (GRCm39) |
G2199D |
probably benign |
Het |
Dock9 |
A |
G |
14: 121,799,465 (GRCm39) |
|
probably null |
Het |
Dst |
T |
C |
1: 34,227,474 (GRCm39) |
I1689T |
possibly damaging |
Het |
Eif2ak4 |
T |
C |
2: 118,269,547 (GRCm39) |
F762S |
probably benign |
Het |
Eif2b5 |
A |
G |
16: 20,320,469 (GRCm39) |
D195G |
probably benign |
Het |
Elmo1 |
C |
G |
13: 20,784,382 (GRCm39) |
Y646* |
probably null |
Het |
Far1 |
T |
A |
7: 113,139,805 (GRCm39) |
S84R |
probably damaging |
Het |
Galnt15 |
A |
T |
14: 31,780,226 (GRCm39) |
I508F |
possibly damaging |
Het |
Grik1 |
T |
C |
16: 87,720,088 (GRCm39) |
T745A |
probably benign |
Het |
Hira |
A |
G |
16: 18,774,952 (GRCm39) |
D959G |
possibly damaging |
Het |
Hsf5 |
T |
C |
11: 87,522,460 (GRCm39) |
L351P |
probably damaging |
Het |
Icosl |
C |
T |
10: 77,907,707 (GRCm39) |
T89I |
possibly damaging |
Het |
Iws1 |
T |
A |
18: 32,216,503 (GRCm39) |
N414K |
probably damaging |
Het |
Kif1b |
A |
G |
4: 149,298,562 (GRCm39) |
S1035P |
probably damaging |
Het |
Lcp2 |
G |
T |
11: 34,028,226 (GRCm39) |
|
probably benign |
Het |
Map4 |
C |
T |
9: 109,896,662 (GRCm39) |
T631I |
probably damaging |
Het |
Nepn |
T |
A |
10: 52,267,911 (GRCm39) |
I59N |
probably damaging |
Het |
Nin |
T |
A |
12: 70,089,752 (GRCm39) |
K1221M |
probably damaging |
Het |
Nup155 |
A |
G |
15: 8,150,948 (GRCm39) |
T333A |
probably damaging |
Het |
Or10d4c |
A |
G |
9: 39,558,412 (GRCm39) |
Y130C |
probably damaging |
Het |
Or52h9 |
T |
C |
7: 104,202,552 (GRCm39) |
V142A |
probably benign |
Het |
Or8b43 |
A |
G |
9: 38,360,662 (GRCm39) |
T165A |
probably benign |
Het |
Plod2 |
T |
C |
9: 92,484,042 (GRCm39) |
L502S |
probably benign |
Het |
Pnpt1 |
A |
G |
11: 29,103,375 (GRCm39) |
|
probably null |
Het |
Ppat |
A |
G |
5: 77,063,061 (GRCm39) |
W517R |
probably damaging |
Het |
Ppp1r16b |
C |
T |
2: 158,599,174 (GRCm39) |
T382I |
probably benign |
Het |
Prkcq |
T |
C |
2: 11,260,980 (GRCm39) |
I344T |
possibly damaging |
Het |
Rbl1 |
A |
G |
2: 157,010,875 (GRCm39) |
|
probably benign |
Het |
Rpl31-ps17 |
C |
T |
12: 54,748,397 (GRCm39) |
|
noncoding transcript |
Het |
Sec62 |
T |
C |
3: 30,868,431 (GRCm39) |
M220T |
unknown |
Het |
Shprh |
T |
G |
10: 11,062,262 (GRCm39) |
V1219G |
possibly damaging |
Het |
Slc25a46 |
T |
C |
18: 31,742,651 (GRCm39) |
T72A |
probably benign |
Het |
Slc4a2 |
G |
A |
5: 24,644,846 (GRCm39) |
W1040* |
probably null |
Het |
Slc5a1 |
T |
C |
5: 33,312,018 (GRCm39) |
V470A |
possibly damaging |
Het |
Spmap2l |
T |
C |
5: 77,202,383 (GRCm39) |
I268T |
possibly damaging |
Het |
Syvn1 |
C |
T |
19: 6,099,951 (GRCm39) |
|
probably benign |
Het |
Tex47 |
G |
T |
5: 7,355,364 (GRCm39) |
A182S |
probably benign |
Het |
Top2a |
A |
G |
11: 98,892,231 (GRCm39) |
I1077T |
probably benign |
Het |
Tpcn1 |
T |
C |
5: 120,680,583 (GRCm39) |
K549R |
probably damaging |
Het |
Trpm2 |
T |
C |
10: 77,770,902 (GRCm39) |
D678G |
probably benign |
Het |
Tut7 |
T |
C |
13: 59,969,863 (GRCm39) |
K11E |
probably damaging |
Het |
Ube3a |
T |
C |
7: 58,925,861 (GRCm39) |
I234T |
probably benign |
Het |
Vmn2r57 |
T |
C |
7: 41,076,064 (GRCm39) |
K483E |
probably damaging |
Het |
Wnk1 |
T |
A |
6: 119,903,387 (GRCm39) |
S2111C |
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 |
|
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'- AGAGTGACAGTGTACACCAAC -3'
(R):5'- AGGGTCTTCCTACATCTTCGG -3'
Sequencing Primer
(F):5'- GTGACAGTGTACACCAACAACTCTG -3'
(R):5'- ATCTTCGGATCCAGCCCCAG -3'
|
Posted On |
2015-07-07 |