Incidental Mutation 'R9266:Fhod1'
| ID |
702547 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fhod1
|
| Ensembl Gene |
ENSMUSG00000014778 |
| Gene Name |
formin homology 2 domain containing 1 |
| Synonyms |
|
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.213)
|
| Stock # |
R9266 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
106055795-106074585 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 106065531 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 88
(L88P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000014922
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014922]
[ENSMUST00000098453]
[ENSMUST00000109372]
|
| AlphaFold |
Q6P9Q4 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000014922
AA Change: L88P
|
| SMART Domains |
Protein: ENSMUSP00000014922
Gene: ENSMUSG00000014778
AA Change: L88P
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcf1 |
C |
A |
17: 36,270,178 (GRCm39) |
E627* |
probably null |
Het |
| Aoc1l2 |
A |
G |
6: 48,907,171 (GRCm39) |
N57S |
probably benign |
Het |
| Arhgap42 |
A |
G |
9: 9,006,386 (GRCm39) |
V670A |
probably benign |
Het |
| Arhgef16 |
C |
A |
4: 154,375,922 (GRCm39) |
R24L |
probably benign |
Het |
| Atad2 |
A |
T |
15: 57,985,967 (GRCm39) |
D251E |
probably benign |
Het |
| Atf2 |
T |
C |
2: 73,649,271 (GRCm39) |
S447G |
probably benign |
Het |
| Atp8b1 |
T |
C |
18: 64,704,108 (GRCm39) |
M337V |
probably benign |
Het |
| Atp8b1 |
C |
T |
18: 64,710,528 (GRCm39) |
D170N |
possibly damaging |
Het |
| Azin2 |
C |
A |
4: 128,856,230 (GRCm39) |
|
probably benign |
Het |
| Btbd16 |
C |
T |
7: 130,417,516 (GRCm39) |
R344C |
probably damaging |
Het |
| Cdh19 |
A |
G |
1: 110,817,771 (GRCm39) |
L657P |
probably damaging |
Het |
| Crybg3 |
A |
T |
16: 59,372,544 (GRCm39) |
V598E |
probably damaging |
Het |
| Cwc22 |
A |
G |
2: 77,754,952 (GRCm39) |
I208T |
probably benign |
Het |
| Cyp4a32 |
T |
A |
4: 115,468,307 (GRCm39) |
D292E |
probably damaging |
Het |
| Dnah10 |
G |
A |
5: 124,845,990 (GRCm39) |
V1510I |
probably benign |
Het |
| Dpp3 |
G |
T |
19: 4,964,686 (GRCm39) |
Y540* |
probably null |
Het |
| Efcab8 |
G |
C |
2: 153,646,861 (GRCm39) |
V397L |
unknown |
Het |
| Elf1 |
A |
G |
14: 79,798,290 (GRCm39) |
D59G |
probably benign |
Het |
| Epc1 |
A |
T |
18: 6,449,219 (GRCm39) |
M476K |
probably benign |
Het |
| Espnl |
C |
A |
1: 91,272,771 (GRCm39) |
S710R |
probably benign |
Het |
| Fam171b |
T |
C |
2: 83,683,926 (GRCm39) |
W148R |
probably damaging |
Het |
| Frmd4a |
A |
G |
2: 4,610,846 (GRCm39) |
S999G |
probably damaging |
Het |
| Glmp |
T |
C |
3: 88,233,036 (GRCm39) |
I58T |
probably damaging |
Het |
| Gm45861 |
T |
A |
8: 28,074,674 (GRCm39) |
D1341E |
unknown |
Het |
| Gpr179 |
A |
G |
11: 97,227,766 (GRCm39) |
I1463T |
probably benign |
Het |
| Gsdmc2 |
T |
C |
15: 63,698,088 (GRCm39) |
E339G |
probably damaging |
Het |
| Insm1 |
A |
T |
2: 146,064,933 (GRCm39) |
I250F |
probably damaging |
Het |
| Insm1 |
G |
A |
2: 146,064,943 (GRCm39) |
G253D |
possibly damaging |
Het |
| Itih1 |
A |
T |
14: 30,652,222 (GRCm39) |
S824T |
probably damaging |
Het |
| Lactb |
A |
G |
9: 66,878,499 (GRCm39) |
Y190H |
possibly damaging |
Het |
| Lrba |
T |
C |
3: 86,198,774 (GRCm39) |
M197T |
probably benign |
Het |
| Lrrc4c |
A |
G |
2: 97,459,853 (GRCm39) |
I160V |
probably benign |
Het |
| Lrrc59 |
A |
T |
11: 94,532,044 (GRCm39) |
|
probably null |
Het |
| Ltk |
A |
T |
2: 119,585,121 (GRCm39) |
M425K |
possibly damaging |
Het |
| Map9 |
T |
C |
3: 82,278,594 (GRCm39) |
V198A |
possibly damaging |
Het |
| Mms22l |
T |
C |
4: 24,578,878 (GRCm39) |
Y746H |
probably damaging |
Het |
| Ms4a4b |
A |
G |
19: 11,432,060 (GRCm39) |
I60M |
probably benign |
Het |
| Mtif2 |
T |
C |
11: 29,480,065 (GRCm39) |
W44R |
probably benign |
Het |
| Nadsyn1 |
A |
T |
7: 143,369,348 (GRCm39) |
W128R |
probably damaging |
Het |
| Nrcam |
G |
A |
12: 44,636,917 (GRCm39) |
A1117T |
probably damaging |
Het |
| Ntng1 |
G |
A |
3: 110,050,923 (GRCm39) |
|
probably benign |
Het |
| Ntng1 |
A |
G |
3: 110,051,162 (GRCm39) |
F56L |
unknown |
Het |
| Oas2 |
A |
T |
5: 120,887,637 (GRCm39) |
Y68N |
probably damaging |
Het |
| Or4c119 |
A |
T |
2: 88,986,854 (GRCm39) |
F222I |
possibly damaging |
Het |
| Or5b101 |
A |
C |
19: 13,005,648 (GRCm39) |
L15R |
probably damaging |
Het |
| Or6c6c |
T |
C |
10: 129,541,547 (GRCm39) |
S267P |
probably benign |
Het |
| Pals2 |
T |
C |
6: 50,140,463 (GRCm39) |
M161T |
probably benign |
Het |
| Paqr8 |
C |
T |
1: 21,005,863 (GRCm39) |
T339I |
probably benign |
Het |
| Pcdhga10 |
A |
G |
18: 37,881,814 (GRCm39) |
E525G |
probably benign |
Het |
| Psg28 |
T |
G |
7: 18,161,752 (GRCm39) |
L250F |
probably benign |
Het |
| S100a13 |
G |
T |
3: 90,423,170 (GRCm39) |
D54Y |
unknown |
Het |
| Slc16a4 |
A |
T |
3: 107,199,788 (GRCm39) |
T12S |
probably benign |
Het |
| Slc9b1 |
A |
G |
3: 135,054,468 (GRCm39) |
|
probably benign |
Het |
| Slit3 |
T |
C |
11: 35,598,808 (GRCm39) |
S1471P |
probably damaging |
Het |
| Smpdl3a |
T |
C |
10: 57,678,596 (GRCm39) |
V133A |
possibly damaging |
Het |
| Snap23 |
C |
T |
2: 120,414,781 (GRCm39) |
|
probably benign |
Het |
| Spp2 |
A |
G |
1: 88,344,975 (GRCm39) |
M146V |
probably benign |
Het |
| Syf2 |
C |
A |
4: 134,663,321 (GRCm39) |
N164K |
possibly damaging |
Het |
| Sync |
T |
G |
4: 129,187,179 (GRCm39) |
Y70* |
probably null |
Het |
| Tex56 |
A |
G |
13: 35,116,569 (GRCm39) |
K106R |
possibly damaging |
Het |
| Tmigd3 |
T |
C |
3: 105,824,216 (GRCm39) |
F62L |
probably benign |
Het |
| Trpa1 |
C |
T |
1: 14,980,953 (GRCm39) |
|
probably null |
Het |
| U2surp |
A |
T |
9: 95,366,468 (GRCm39) |
I480N |
probably damaging |
Het |
| Usf3 |
C |
T |
16: 44,040,095 (GRCm39) |
T1525I |
probably damaging |
Het |
| Vmn2r2 |
T |
C |
3: 64,024,057 (GRCm39) |
I841M |
probably damaging |
Het |
| Zfp335 |
T |
A |
2: 164,738,007 (GRCm39) |
Q868L |
probably benign |
Het |
| Zscan10 |
A |
G |
17: 23,828,385 (GRCm39) |
E309G |
possibly 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 |
|
|
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 |
|
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'- ACTGAGGTATGAGAGTACCCC -3'
(R):5'- TCCAGGGCTGTAGCTTGATG -3'
Sequencing Primer
(F):5'- GAGGTATGAGAGTACCCCCATTTC -3'
(R):5'- CAGGGCTGTAGCTTGATGGTTTAAC -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation