Incidental Mutation 'R0498:Fhod1'
ID |
40608 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fhod1
|
Ensembl Gene |
ENSMUSG00000014778 |
Gene Name |
formin homology 2 domain containing 1 |
Synonyms |
|
MMRRC Submission |
038694-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.213)
|
Stock # |
R0498 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
106055795-106074585 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 106056488 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Cysteine
at position 1101
(R1101C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000014922
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014922]
[ENSMUST00000015000]
[ENSMUST00000070508]
[ENSMUST00000098453]
[ENSMUST00000109372]
[ENSMUST00000126705]
[ENSMUST00000210801]
[ENSMUST00000209964]
[ENSMUST00000210412]
[ENSMUST00000211199]
[ENSMUST00000153146]
|
AlphaFold |
Q6P9Q4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000014922
AA Change: R1101C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000014922 Gene: ENSMUSG00000014778 AA Change: R1101C
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: ENSMUST00000210801
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134837
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132777
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000209964
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000210412
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000211199
|
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 |
|
Meta Mutation Damage Score |
0.1614 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 96.9%
- 20x: 94.4%
|
Validation Efficiency |
100% (68/68) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930433I11Rik |
A |
T |
7: 40,642,718 (GRCm39) |
D220V |
probably benign |
Het |
Adgrf2 |
A |
G |
17: 43,025,206 (GRCm39) |
|
probably benign |
Het |
Aldh18a1 |
A |
G |
19: 40,562,716 (GRCm39) |
V219A |
probably benign |
Het |
Anapc10 |
A |
G |
8: 80,501,610 (GRCm39) |
D126G |
probably benign |
Het |
Ap1m2 |
T |
C |
9: 21,207,129 (GRCm39) |
*426W |
probably null |
Het |
Arhgap21 |
A |
G |
2: 20,867,928 (GRCm39) |
I865T |
probably damaging |
Het |
Armc8 |
A |
G |
9: 99,379,345 (GRCm39) |
V527A |
probably damaging |
Het |
Asic5 |
A |
T |
3: 81,913,778 (GRCm39) |
|
probably benign |
Het |
Baz2b |
A |
C |
2: 59,732,340 (GRCm39) |
|
probably benign |
Het |
Bpifa5 |
T |
C |
2: 154,009,169 (GRCm39) |
V237A |
probably damaging |
Het |
Brip1 |
T |
A |
11: 86,088,745 (GRCm39) |
K52I |
possibly damaging |
Het |
Cacna1g |
T |
C |
11: 94,350,685 (GRCm39) |
I387V |
probably damaging |
Het |
Cbr4 |
A |
G |
8: 61,948,107 (GRCm39) |
I135V |
probably benign |
Het |
Ccdc66 |
C |
T |
14: 27,222,197 (GRCm39) |
|
probably null |
Het |
Cubn |
G |
A |
2: 13,449,078 (GRCm39) |
T999M |
probably damaging |
Het |
Dnai3 |
G |
T |
3: 145,787,119 (GRCm39) |
D305E |
possibly damaging |
Het |
Dpp8 |
C |
T |
9: 64,953,077 (GRCm39) |
|
probably benign |
Het |
Dsg1b |
T |
C |
18: 20,542,390 (GRCm39) |
S966P |
possibly damaging |
Het |
Erp27 |
T |
C |
6: 136,896,862 (GRCm39) |
|
probably benign |
Het |
Fat4 |
A |
T |
3: 39,034,786 (GRCm39) |
I2813L |
probably benign |
Het |
Hoxc9 |
T |
C |
15: 102,892,359 (GRCm39) |
S191P |
probably damaging |
Het |
Izumo4 |
T |
C |
10: 80,540,030 (GRCm39) |
|
probably null |
Het |
Kalrn |
C |
T |
16: 33,875,261 (GRCm39) |
D104N |
possibly damaging |
Het |
Kank4 |
A |
T |
4: 98,667,873 (GRCm39) |
D191E |
probably benign |
Het |
Kbtbd11 |
A |
G |
8: 15,077,605 (GRCm39) |
E68G |
probably benign |
Het |
Kdr |
C |
T |
5: 76,119,798 (GRCm39) |
V654I |
probably benign |
Het |
Klra1 |
A |
T |
6: 130,349,782 (GRCm39) |
|
probably null |
Het |
Kmt2e |
T |
A |
5: 23,683,970 (GRCm39) |
Y373* |
probably null |
Het |
Lepr |
A |
T |
4: 101,602,889 (GRCm39) |
M226L |
probably benign |
Het |
Lrp1b |
T |
A |
2: 41,348,417 (GRCm39) |
I800F |
probably benign |
Het |
Lta4h |
T |
C |
10: 93,307,833 (GRCm39) |
|
probably benign |
Het |
Map3k7 |
T |
C |
4: 31,974,814 (GRCm39) |
|
probably benign |
Het |
Map4k4 |
G |
A |
1: 40,029,338 (GRCm39) |
R371Q |
probably benign |
Het |
Mgat4f |
A |
G |
1: 134,318,610 (GRCm39) |
I461V |
possibly damaging |
Het |
Mme |
A |
G |
3: 63,253,487 (GRCm39) |
I444V |
probably damaging |
Het |
Mms19 |
C |
T |
19: 41,938,212 (GRCm39) |
R582Q |
possibly damaging |
Het |
Mtss1 |
A |
G |
15: 58,817,286 (GRCm39) |
S502P |
probably damaging |
Het |
Myo3a |
G |
T |
2: 22,467,441 (GRCm39) |
A232S |
possibly damaging |
Het |
Nwd2 |
G |
T |
5: 63,963,686 (GRCm39) |
W1090L |
probably damaging |
Het |
Or4k15 |
A |
C |
14: 50,364,750 (GRCm39) |
T239P |
probably damaging |
Het |
Or8b12 |
G |
A |
9: 37,657,550 (GRCm39) |
G40E |
probably damaging |
Het |
Pcm1 |
G |
A |
8: 41,746,806 (GRCm39) |
S1335N |
probably benign |
Het |
Pdzph1 |
A |
G |
17: 59,280,825 (GRCm39) |
F486L |
probably benign |
Het |
Piezo2 |
T |
C |
18: 63,235,245 (GRCm39) |
K552R |
possibly damaging |
Het |
Plekhs1 |
T |
A |
19: 56,469,536 (GRCm39) |
|
probably null |
Het |
Pprc1 |
C |
T |
19: 46,060,007 (GRCm39) |
Q1514* |
probably null |
Het |
Ralgapa1 |
T |
C |
12: 55,736,576 (GRCm39) |
T1831A |
possibly damaging |
Het |
Rnpep |
G |
T |
1: 135,193,090 (GRCm39) |
D455E |
probably damaging |
Het |
Rpgrip1 |
T |
A |
14: 52,368,771 (GRCm39) |
|
probably benign |
Het |
Saxo1 |
A |
T |
4: 86,397,133 (GRCm39) |
M135K |
possibly damaging |
Het |
Serpina12 |
T |
C |
12: 104,002,048 (GRCm39) |
T223A |
probably damaging |
Het |
Serpinb3a |
A |
G |
1: 106,974,880 (GRCm39) |
F218L |
probably damaging |
Het |
Serpinb9f |
T |
G |
13: 33,509,990 (GRCm39) |
|
probably benign |
Het |
Spata33 |
A |
G |
8: 123,948,662 (GRCm39) |
D98G |
probably benign |
Het |
Stard13 |
T |
A |
5: 150,975,942 (GRCm39) |
Y742F |
probably damaging |
Het |
Tecta |
A |
G |
9: 42,288,910 (GRCm39) |
Y552H |
probably damaging |
Het |
Tie1 |
A |
T |
4: 118,336,358 (GRCm39) |
|
probably benign |
Het |
Tmem161a |
A |
G |
8: 70,633,623 (GRCm39) |
T254A |
probably benign |
Het |
Tmem30a |
G |
T |
9: 79,681,376 (GRCm39) |
Y264* |
probably null |
Het |
Tmem87a |
A |
T |
2: 120,224,946 (GRCm39) |
I105K |
probably benign |
Het |
Tnrc6b |
A |
T |
15: 80,742,920 (GRCm39) |
D51V |
probably damaging |
Het |
Trgc3 |
T |
A |
13: 19,445,262 (GRCm39) |
M70K |
probably damaging |
Het |
Trpc4 |
T |
C |
3: 54,198,632 (GRCm39) |
F519L |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,539,925 (GRCm39) |
T26027A |
probably damaging |
Het |
Vmn1r198 |
A |
C |
13: 22,539,144 (GRCm39) |
H121P |
probably damaging |
Het |
Vps33a |
A |
G |
5: 123,709,024 (GRCm39) |
F64L |
probably benign |
Het |
Zfp1008 |
T |
C |
13: 62,755,201 (GRCm39) |
N39S |
probably damaging |
Het |
Zfp994 |
A |
T |
17: 22,419,882 (GRCm39) |
C356S |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GCACCAGCAGGTCCATTATCTCATC -3'
(R):5'- TGCCACACACTGAGAGAGTTTGCC -3'
Sequencing Primer
(F):5'- AGGTCCATTATCTCATCTGACGTG -3'
(R):5'- ATCGGACTTGTCGGGAAC -3'
|
Posted On |
2013-05-23 |