Incidental Mutation 'R6320:Fhod1'
| ID |
510099 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fhod1
|
| Ensembl Gene |
ENSMUSG00000014778 |
| Gene Name |
formin homology 2 domain containing 1 |
| Synonyms |
|
| MMRRC Submission |
044475-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.213)
|
| Stock # |
R6320 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
106055795-106074585 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to C
at 106063982 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: I241S
|
| SMART Domains |
Protein: ENSMUSP00000014922
Gene: ENSMUSG00000014778
AA Change: I241S
| 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 |
0.5376 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
| Validation Efficiency |
100% (63/63) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agtr1b |
G |
T |
3: 20,369,943 (GRCm39) |
A221D |
probably benign |
Het |
| Aldh18a1 |
A |
T |
19: 40,559,005 (GRCm39) |
D280E |
probably benign |
Het |
| Apob |
G |
A |
12: 8,039,194 (GRCm39) |
D475N |
probably benign |
Het |
| Bmi1 |
C |
T |
2: 18,689,186 (GRCm39) |
T290I |
probably benign |
Het |
| Brd8 |
A |
T |
18: 34,746,292 (GRCm39) |
D139E |
possibly damaging |
Het |
| Cacna1e |
C |
A |
1: 154,317,270 (GRCm39) |
V1467F |
possibly damaging |
Het |
| Cdh15 |
A |
G |
8: 123,591,086 (GRCm39) |
D445G |
probably benign |
Het |
| Ceacam5 |
T |
A |
7: 17,481,123 (GRCm39) |
L290H |
probably damaging |
Het |
| Celsr1 |
G |
T |
15: 85,785,160 (GRCm39) |
Q3025K |
probably benign |
Het |
| Chi3l1 |
T |
A |
1: 134,109,996 (GRCm39) |
M1K |
probably null |
Het |
| Crybg2 |
T |
C |
4: 133,808,737 (GRCm39) |
S1404P |
probably damaging |
Het |
| Cubn |
C |
A |
2: 13,285,006 (GRCm39) |
C3470F |
probably damaging |
Het |
| Cyp20a1 |
T |
C |
1: 60,391,331 (GRCm39) |
|
probably null |
Het |
| Cyp24a1 |
G |
T |
2: 170,328,704 (GRCm39) |
T408K |
probably benign |
Het |
| Cyp2a12 |
A |
T |
7: 26,730,577 (GRCm39) |
I181F |
possibly damaging |
Het |
| Dnm1l |
A |
T |
16: 16,149,952 (GRCm39) |
I268N |
probably damaging |
Het |
| Eif2a |
A |
G |
3: 58,464,517 (GRCm39) |
|
probably null |
Het |
| Epg5 |
T |
C |
18: 78,005,613 (GRCm39) |
F701S |
probably damaging |
Het |
| Fbxo46 |
T |
C |
7: 18,870,466 (GRCm39) |
S362P |
possibly damaging |
Het |
| Fgf22 |
A |
G |
10: 79,592,830 (GRCm39) |
|
probably benign |
Het |
| Flnc |
T |
A |
6: 29,459,062 (GRCm39) |
V2448D |
probably damaging |
Het |
| Gm2696 |
G |
T |
10: 77,671,972 (GRCm39) |
|
probably benign |
Het |
| Gmpr |
T |
C |
13: 45,685,874 (GRCm39) |
S214P |
possibly damaging |
Het |
| Krt6a |
A |
G |
15: 101,600,744 (GRCm39) |
V308A |
probably damaging |
Het |
| Lig3 |
T |
A |
11: 82,684,833 (GRCm39) |
|
probably null |
Het |
| Lrrc37a |
T |
A |
11: 103,394,877 (GRCm39) |
N183Y |
probably benign |
Het |
| Mapk8ip3 |
C |
A |
17: 25,125,879 (GRCm39) |
G422V |
probably damaging |
Het |
| Mks1 |
T |
C |
11: 87,746,325 (GRCm39) |
S97P |
probably benign |
Het |
| Mphosph9 |
A |
T |
5: 124,463,024 (GRCm39) |
V7E |
probably damaging |
Het |
| Msh5 |
A |
G |
17: 35,248,900 (GRCm39) |
L711P |
probably damaging |
Het |
| Naga |
T |
A |
15: 82,216,404 (GRCm39) |
|
probably null |
Het |
| Nherf4 |
A |
G |
9: 44,159,980 (GRCm39) |
V380A |
probably benign |
Het |
| Nlrp10 |
T |
A |
7: 108,524,953 (GRCm39) |
T176S |
possibly damaging |
Het |
| Nqo1 |
T |
C |
8: 108,115,582 (GRCm39) |
N232D |
probably benign |
Het |
| Or1j21 |
C |
G |
2: 36,683,585 (GRCm39) |
N112K |
possibly damaging |
Het |
| Or2b6 |
T |
A |
13: 21,823,418 (GRCm39) |
I92L |
probably damaging |
Het |
| P2ry6 |
A |
G |
7: 100,587,603 (GRCm39) |
F252S |
probably damaging |
Het |
| P3h3 |
G |
A |
6: 124,831,835 (GRCm39) |
R317W |
probably benign |
Het |
| Pakap |
T |
A |
4: 57,710,173 (GRCm39) |
C373S |
probably damaging |
Het |
| Phkb |
T |
A |
8: 86,602,327 (GRCm39) |
D39E |
probably benign |
Het |
| Psg16 |
G |
A |
7: 16,822,112 (GRCm39) |
G23D |
probably damaging |
Het |
| Ptgr2 |
T |
A |
12: 84,349,111 (GRCm39) |
I150K |
probably benign |
Het |
| Ptprf |
A |
G |
4: 118,070,011 (GRCm39) |
V1457A |
probably benign |
Het |
| Sart3 |
A |
T |
5: 113,889,301 (GRCm39) |
Y508N |
probably benign |
Het |
| Sh3bp1 |
C |
T |
15: 78,795,715 (GRCm39) |
P615S |
probably damaging |
Het |
| Ska3 |
A |
T |
14: 58,054,148 (GRCm39) |
N267K |
probably benign |
Het |
| Slc26a7 |
A |
G |
4: 14,524,498 (GRCm39) |
I462T |
probably benign |
Het |
| Slu7 |
C |
T |
11: 43,332,316 (GRCm39) |
A244V |
probably benign |
Het |
| Smarca4 |
C |
T |
9: 21,548,671 (GRCm39) |
P319L |
probably damaging |
Het |
| Smg9 |
A |
G |
7: 24,120,286 (GRCm39) |
D420G |
probably benign |
Het |
| Strc |
T |
A |
2: 121,205,439 (GRCm39) |
D25V |
probably benign |
Het |
| Syne2 |
T |
G |
12: 76,108,424 (GRCm39) |
V936G |
probably damaging |
Het |
| Tbc1d7 |
C |
T |
13: 43,306,409 (GRCm39) |
|
probably benign |
Het |
| Terb1 |
C |
A |
8: 105,173,831 (GRCm39) |
D751Y |
probably damaging |
Het |
| Trpc1 |
A |
G |
9: 95,603,303 (GRCm39) |
Y410H |
probably damaging |
Het |
| Ush2a |
A |
G |
1: 188,089,043 (GRCm39) |
N333D |
probably benign |
Het |
| Usp34 |
T |
C |
11: 23,402,520 (GRCm39) |
S2438P |
probably damaging |
Het |
| Vps35l |
T |
C |
7: 118,353,072 (GRCm39) |
V189A |
probably benign |
Het |
| Zbtb17 |
G |
A |
4: 141,190,694 (GRCm39) |
G171S |
probably benign |
Het |
| Zfp7 |
G |
A |
15: 76,774,810 (GRCm39) |
G284D |
possibly damaging |
Het |
| Zfyve26 |
A |
G |
12: 79,286,776 (GRCm39) |
S2271P |
probably damaging |
Het |
| Zscan18 |
G |
A |
7: 12,509,147 (GRCm39) |
|
probably benign |
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 |
|
|
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'- TGAGAGTGACAGTGTACACCAAC -3'
(R):5'- GGGTCTTCCTACATCTTCGG -3'
Sequencing Primer
(F):5'- GTGACAGTGTACACCAACAACTCTG -3'
(R):5'- ATCTTCGGATCCAGCCCCAG -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation