Incidental Mutation 'R9200:Fhod1'
| ID |
698175 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fhod1
|
| Ensembl Gene |
ENSMUSG00000014778 |
| Gene Name |
formin homology 2 domain containing 1 |
| Synonyms |
|
| MMRRC Submission |
068957-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.213)
|
| Stock # |
R9200 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
106055795-106074585 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 106058072 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 844
(V844A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000014922
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014922]
[ENSMUST00000015000]
[ENSMUST00000098453]
[ENSMUST00000109372]
[ENSMUST00000126705]
[ENSMUST00000153146]
|
| AlphaFold |
Q6P9Q4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000014922
AA Change: V844A
PolyPhen 2
Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000014922
Gene: ENSMUSG00000014778
AA Change: V844A
| 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: 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: ENSMUST00000153146
|
| SMART Domains |
Protein: ENSMUSP00000138470
Gene: ENSMUSG00000014856
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF788
|
7 |
100 |
3e-29 |
PFAM |
|
| Meta Mutation Damage Score |
0.0611 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
99% (71/72) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm2 |
C |
A |
7: 119,179,839 (GRCm39) |
Y352* |
probably null |
Het |
| Adh7 |
C |
T |
3: 137,927,567 (GRCm39) |
R38C |
probably benign |
Het |
| Ankrd2 |
A |
T |
19: 42,028,871 (GRCm39) |
T145S |
|
Het |
| Anpep |
T |
C |
7: 79,490,870 (GRCm39) |
N241D |
probably benign |
Het |
| Apaf1 |
G |
A |
10: 90,845,102 (GRCm39) |
L990F |
probably benign |
Het |
| Arsi |
A |
G |
18: 61,049,836 (GRCm39) |
T240A |
possibly damaging |
Het |
| Ascc3 |
A |
G |
10: 50,521,787 (GRCm39) |
E434G |
possibly damaging |
Het |
| Atp2c2 |
A |
T |
8: 120,474,999 (GRCm39) |
K535* |
probably null |
Het |
| B3galt4 |
A |
G |
17: 34,170,384 (GRCm39) |
|
probably benign |
Het |
| Brwd1 |
C |
G |
16: 95,839,154 (GRCm39) |
C839S |
probably benign |
Het |
| Cars1 |
C |
T |
7: 143,129,654 (GRCm39) |
|
probably null |
Het |
| Catsperd |
T |
A |
17: 56,935,229 (GRCm39) |
V14D |
unknown |
Het |
| Ccdc150 |
A |
C |
1: 54,299,197 (GRCm39) |
T58P |
probably damaging |
Het |
| Cdhr17 |
T |
C |
5: 17,006,659 (GRCm39) |
|
probably null |
Het |
| Cdon |
A |
G |
9: 35,414,617 (GRCm39) |
D1164G |
probably benign |
Het |
| Celsr1 |
G |
T |
15: 85,917,286 (GRCm39) |
S229* |
probably null |
Het |
| Cic |
A |
C |
7: 24,971,940 (GRCm39) |
D557A |
probably damaging |
Het |
| Clip4 |
G |
A |
17: 72,117,884 (GRCm39) |
G310R |
probably damaging |
Het |
| Dach1 |
G |
T |
14: 98,065,743 (GRCm39) |
R695S |
probably damaging |
Het |
| Ddc |
T |
C |
11: 11,765,388 (GRCm39) |
N428S |
possibly damaging |
Het |
| Dnah6 |
G |
A |
6: 73,004,497 (GRCm39) |
T3822I |
probably benign |
Het |
| Dnmt1 |
T |
A |
9: 20,819,896 (GRCm39) |
M1535L |
probably benign |
Het |
| Edc4 |
T |
C |
8: 106,617,051 (GRCm39) |
|
probably null |
Het |
| Emilin2 |
A |
G |
17: 71,581,229 (GRCm39) |
I499T |
possibly damaging |
Het |
| Etl4 |
A |
G |
2: 20,786,702 (GRCm39) |
D766G |
probably damaging |
Het |
| Fes |
T |
C |
7: 80,032,140 (GRCm39) |
Q414R |
probably benign |
Het |
| Fshr |
A |
T |
17: 89,354,103 (GRCm39) |
V85E |
probably benign |
Het |
| Gc |
T |
C |
5: 89,593,236 (GRCm39) |
N61S |
probably benign |
Het |
| Hapstr1 |
T |
C |
16: 8,673,898 (GRCm39) |
L275P |
possibly damaging |
Het |
| Il18rap |
C |
T |
1: 40,582,177 (GRCm39) |
T366M |
probably benign |
Het |
| Itga1 |
A |
T |
13: 115,104,997 (GRCm39) |
I1059N |
possibly damaging |
Het |
| Itpr3 |
T |
A |
17: 27,326,636 (GRCm39) |
V1426E |
probably damaging |
Het |
| Jag1 |
T |
A |
2: 136,929,044 (GRCm39) |
Y804F |
probably benign |
Het |
| Lama3 |
A |
G |
18: 12,605,297 (GRCm39) |
T1084A |
probably benign |
Het |
| Mdn1 |
A |
G |
4: 32,760,791 (GRCm39) |
D4952G |
probably benign |
Het |
| Mmrn1 |
A |
G |
6: 60,953,860 (GRCm39) |
T714A |
probably damaging |
Het |
| Nab1 |
T |
A |
1: 52,529,525 (GRCm39) |
H124L |
possibly damaging |
Het |
| Nacc2 |
A |
G |
2: 25,980,118 (GRCm39) |
F106S |
probably damaging |
Het |
| Nbeal1 |
T |
C |
1: 60,320,425 (GRCm39) |
I2006T |
probably damaging |
Het |
| Nkpd1 |
C |
A |
7: 19,257,683 (GRCm39) |
H487Q |
probably benign |
Het |
| Nop2 |
G |
A |
6: 125,117,843 (GRCm39) |
|
probably null |
Het |
| Or10ag54 |
T |
A |
2: 87,100,055 (GRCm39) |
M310K |
probably benign |
Het |
| Or5b124 |
A |
G |
19: 13,610,595 (GRCm39) |
N40S |
probably damaging |
Het |
| Otud6b |
A |
T |
4: 14,811,712 (GRCm39) |
Y310* |
probably null |
Het |
| Phyh |
A |
T |
2: 4,932,247 (GRCm39) |
Y111F |
probably benign |
Het |
| Pon3 |
A |
G |
6: 5,240,863 (GRCm39) |
L106P |
probably benign |
Het |
| Ppp6r3 |
T |
C |
19: 3,519,748 (GRCm39) |
D615G |
probably damaging |
Het |
| Pramel23 |
G |
A |
4: 143,423,856 (GRCm39) |
P311L |
possibly damaging |
Het |
| Prdm10 |
G |
A |
9: 31,268,438 (GRCm39) |
V796I |
probably damaging |
Het |
| Prkdc |
G |
T |
16: 15,523,153 (GRCm39) |
V1192F |
probably damaging |
Het |
| R3hdm2 |
T |
G |
10: 127,293,521 (GRCm39) |
S142A |
probably damaging |
Het |
| Rab39 |
T |
C |
9: 53,597,665 (GRCm39) |
N200S |
probably benign |
Het |
| Rcc2 |
A |
G |
4: 140,445,664 (GRCm39) |
I441V |
probably benign |
Het |
| Rxra |
G |
A |
2: 27,627,496 (GRCm39) |
V72I |
possibly damaging |
Het |
| Ryr1 |
T |
G |
7: 28,794,524 (GRCm39) |
Q1252P |
probably benign |
Het |
| Sectm1a |
T |
C |
11: 120,960,473 (GRCm39) |
Y114C |
probably damaging |
Het |
| Smim1 |
T |
C |
4: 154,108,276 (GRCm39) |
|
probably null |
Het |
| Smpd2 |
C |
T |
10: 41,363,561 (GRCm39) |
D301N |
probably benign |
Het |
| Smyd3 |
T |
C |
1: 179,232,963 (GRCm39) |
D139G |
probably benign |
Het |
| Sox13 |
C |
T |
1: 133,313,743 (GRCm39) |
C399Y |
probably damaging |
Het |
| Tars3 |
A |
G |
7: 65,302,013 (GRCm39) |
E179G |
probably benign |
Het |
| Tas2r138 |
A |
G |
6: 40,589,494 (GRCm39) |
F251L |
probably damaging |
Het |
| Tesk1 |
A |
G |
4: 43,447,307 (GRCm39) |
E565G |
probably damaging |
Het |
| Tm2d1 |
A |
T |
4: 98,246,200 (GRCm39) |
F201I |
possibly damaging |
Het |
| Tom1l2 |
C |
A |
11: 60,120,942 (GRCm39) |
D501Y |
probably benign |
Het |
| Trim39 |
G |
T |
17: 36,579,667 (GRCm39) |
T96K |
probably benign |
Het |
| Ubash3a |
A |
G |
17: 31,436,971 (GRCm39) |
H196R |
probably damaging |
Het |
| Unc13b |
A |
G |
4: 43,257,352 (GRCm39) |
E1206G |
possibly damaging |
Het |
| Usp17lc |
A |
T |
7: 103,068,105 (GRCm39) |
T467S |
probably benign |
Het |
| Vmn1r128 |
T |
C |
7: 21,083,316 (GRCm39) |
S7P |
possibly damaging |
Het |
| Vmn1r185 |
T |
A |
7: 26,311,073 (GRCm39) |
H144L |
possibly damaging |
Het |
| Wfdc6b |
A |
T |
2: 164,455,708 (GRCm39) |
R12S |
possibly damaging |
Het |
| Zmynd8 |
A |
T |
2: 165,682,005 (GRCm39) |
D175E |
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 |
|
|
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 |
|
|
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'- GTAGCTCAGCTCAAAGCCACTG -3'
(R):5'- TCAAGCTGGACTATGAAAGCATG -3'
Sequencing Primer
(F):5'- ACTGCTCTGAAAGGACCCTGTC -3'
(R):5'- TTGGGTACGCGGGAAAGC -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation