Incidental Mutation 'R4424:Fhod1'
| ID |
327266 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fhod1
|
| Ensembl Gene |
ENSMUSG00000014778 |
| Gene Name |
formin homology 2 domain containing 1 |
| Synonyms |
|
| MMRRC Submission |
041696-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.213)
|
| Stock # |
R4424 (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 |
95% (69/73) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933409G03Rik |
A |
T |
2: 68,445,491 (GRCm39) |
|
probably benign |
Het |
| Aimp1 |
A |
T |
3: 132,373,253 (GRCm39) |
L229Q |
probably benign |
Het |
| Ankrd16 |
T |
A |
2: 11,789,215 (GRCm39) |
D267E |
possibly damaging |
Het |
| Apol11b |
A |
G |
15: 77,522,133 (GRCm39) |
|
probably null |
Het |
| Arfgap1 |
C |
A |
2: 180,622,869 (GRCm39) |
D327E |
probably benign |
Het |
| Arid3b |
A |
T |
9: 57,741,151 (GRCm39) |
D98E |
probably benign |
Het |
| Art2b |
T |
A |
7: 101,229,129 (GRCm39) |
I257F |
probably benign |
Het |
| Atp5f1a |
T |
A |
18: 77,867,766 (GRCm39) |
|
probably benign |
Het |
| Carmil3 |
A |
G |
14: 55,738,928 (GRCm39) |
T861A |
probably benign |
Het |
| Cep164 |
A |
T |
9: 45,691,002 (GRCm39) |
F1259L |
possibly damaging |
Het |
| Cfap91 |
G |
T |
16: 38,140,727 (GRCm39) |
P409T |
probably damaging |
Het |
| Chrnd |
T |
C |
1: 87,123,512 (GRCm39) |
V350A |
probably benign |
Het |
| Clcn7 |
T |
C |
17: 25,379,150 (GRCm39) |
L744P |
probably damaging |
Het |
| Csl |
T |
A |
10: 99,594,453 (GRCm39) |
D204V |
possibly damaging |
Het |
| Cstdc3 |
A |
G |
16: 36,132,951 (GRCm39) |
D76G |
probably null |
Het |
| Cyp2c29 |
G |
T |
19: 39,275,620 (GRCm39) |
W20L |
probably damaging |
Het |
| Dhrs13 |
G |
T |
11: 77,927,951 (GRCm39) |
G266* |
probably null |
Het |
| Dll3 |
T |
C |
7: 27,995,716 (GRCm39) |
N362D |
probably damaging |
Het |
| Efcab3 |
T |
G |
11: 104,626,940 (GRCm39) |
|
probably null |
Het |
| Fanca |
A |
G |
8: 124,015,532 (GRCm39) |
V715A |
probably benign |
Het |
| Fpr2 |
C |
T |
17: 18,113,394 (GRCm39) |
P130L |
probably damaging |
Het |
| Glce |
A |
G |
9: 61,967,535 (GRCm39) |
Y539H |
probably damaging |
Het |
| Hfe |
A |
T |
13: 23,890,866 (GRCm39) |
V91E |
probably benign |
Het |
| Hoxd13 |
A |
T |
2: 74,500,301 (GRCm39) |
K281* |
probably null |
Het |
| Ighv1-66 |
A |
T |
12: 115,557,157 (GRCm39) |
W3R |
probably damaging |
Het |
| Impg2 |
G |
A |
16: 56,080,388 (GRCm39) |
V622I |
possibly damaging |
Het |
| Jun |
A |
G |
4: 94,939,084 (GRCm39) |
M142T |
probably benign |
Het |
| Krt78 |
T |
C |
15: 101,856,375 (GRCm39) |
T479A |
probably benign |
Het |
| Lama3 |
T |
A |
18: 12,652,929 (GRCm39) |
C216* |
probably null |
Het |
| Lin54 |
G |
T |
5: 100,594,419 (GRCm39) |
T582K |
probably damaging |
Het |
| Mapk11 |
A |
G |
15: 89,029,576 (GRCm39) |
|
probably null |
Het |
| Mindy3 |
A |
G |
2: 12,353,010 (GRCm39) |
M397T |
probably benign |
Het |
| Mrpl41 |
T |
C |
2: 24,864,418 (GRCm39) |
T85A |
possibly damaging |
Het |
| Msh6 |
T |
A |
17: 88,298,217 (GRCm39) |
L1354* |
probably null |
Het |
| Mtmr12 |
T |
C |
15: 12,230,400 (GRCm39) |
V41A |
probably damaging |
Het |
| Myh2 |
A |
T |
11: 67,083,551 (GRCm39) |
Q1478L |
probably benign |
Het |
| Myo6 |
A |
G |
9: 80,195,320 (GRCm39) |
K897E |
probably benign |
Het |
| Naprt |
G |
T |
15: 75,764,605 (GRCm39) |
|
probably null |
Het |
| Nrl |
G |
A |
14: 55,759,675 (GRCm39) |
S84L |
probably benign |
Het |
| Nxf1 |
A |
G |
19: 8,744,128 (GRCm39) |
|
probably benign |
Het |
| Or8g2b |
A |
T |
9: 39,751,652 (GRCm39) |
R307S |
possibly damaging |
Het |
| Panx2 |
G |
T |
15: 88,952,423 (GRCm39) |
V305F |
probably benign |
Het |
| Pcdhga1 |
T |
C |
18: 37,795,632 (GRCm39) |
L212P |
probably damaging |
Het |
| Pik3ap1 |
G |
A |
19: 41,364,320 (GRCm39) |
T133I |
probably benign |
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 |
| Prkdc |
G |
A |
16: 15,653,946 (GRCm39) |
R3901H |
probably damaging |
Het |
| Prkdc |
A |
G |
16: 15,591,603 (GRCm39) |
K2694E |
probably damaging |
Het |
| Psma8 |
A |
G |
18: 14,854,247 (GRCm39) |
I42M |
probably damaging |
Het |
| Ptprd |
A |
T |
4: 76,021,200 (GRCm39) |
M599K |
probably benign |
Het |
| Rnmt |
A |
G |
18: 68,444,742 (GRCm39) |
D237G |
probably null |
Het |
| Rpl31-ps17 |
C |
T |
12: 54,748,397 (GRCm39) |
|
noncoding transcript |
Het |
| Scaf11 |
G |
A |
15: 96,316,309 (GRCm39) |
T1085I |
possibly damaging |
Het |
| Sec14l3 |
G |
A |
11: 4,016,210 (GRCm39) |
R43Q |
probably damaging |
Het |
| Shc4 |
G |
T |
2: 125,494,442 (GRCm39) |
T131K |
probably benign |
Het |
| Snx27 |
A |
G |
3: 94,469,330 (GRCm39) |
F4L |
probably benign |
Het |
| Sorcs1 |
T |
C |
19: 50,367,379 (GRCm39) |
T228A |
probably damaging |
Het |
| Spmap2l |
T |
C |
5: 77,202,383 (GRCm39) |
I268T |
possibly damaging |
Het |
| Sptan1 |
C |
T |
2: 29,919,721 (GRCm39) |
|
probably benign |
Het |
| Syvn1 |
C |
T |
19: 6,099,951 (GRCm39) |
|
probably benign |
Het |
| Tex47 |
G |
T |
5: 7,355,364 (GRCm39) |
A182S |
probably benign |
Het |
| Tpcn1 |
T |
C |
5: 120,680,583 (GRCm39) |
K549R |
probably damaging |
Het |
| Upf3a |
C |
A |
8: 13,846,573 (GRCm39) |
P318T |
probably benign |
Het |
| Zbtb40 |
A |
T |
4: 136,726,005 (GRCm39) |
M518K |
probably damaging |
Het |
| Zcchc14 |
G |
A |
8: 122,378,680 (GRCm39) |
|
probably benign |
Het |
| Zfp687 |
G |
A |
3: 94,916,439 (GRCm39) |
P861L |
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 |
|
|
R4423: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'- TGAGAGTGACAGTGTACACCAAC -3'
(R):5'- GGGTCTTCCTACATCTTCGG -3'
Sequencing Primer
(F):5'- GTGACAGTGTACACCAACAACTCTG -3'
(R):5'- ATCTTCGGATCCAGCCCCAG -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation