Incidental Mutation 'R7331:Fchsd1'
| ID |
569264 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fchsd1
|
| Ensembl Gene |
ENSMUSG00000038524 |
| Gene Name |
FCH and double SH3 domains 1 |
| Synonyms |
A030002D08Rik |
| MMRRC Submission |
045424-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.124)
|
| Stock # |
R7331 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
38090484-38102827 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 38101823 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 49
(I49V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047878
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042944]
[ENSMUST00000043437]
[ENSMUST00000163131]
[ENSMUST00000164222]
[ENSMUST00000166148]
|
| AlphaFold |
Q6PFY1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042944
|
| SMART Domains |
Protein: ENSMUSP00000035662
Gene: ENSMUSG00000024451
| Domain | Start | End | E-Value | Type |
|---|
|
SAM
|
1 |
68 |
1.5e-7 |
SMART |
|
low complexity region
|
81 |
98 |
N/A |
INTRINSIC |
|
low complexity region
|
134 |
142 |
N/A |
INTRINSIC |
|
PH
|
283 |
376 |
3.4e-16 |
SMART |
|
PH
|
390 |
480 |
1.61e-8 |
SMART |
|
ArfGap
|
484 |
606 |
1.44e-25 |
SMART |
|
low complexity region
|
642 |
661 |
N/A |
INTRINSIC |
|
PH
|
671 |
785 |
2.86e1 |
SMART |
|
PH
|
795 |
901 |
6.87e-3 |
SMART |
|
RhoGAP
|
913 |
1089 |
2.11e-47 |
SMART |
|
Pfam:RA
|
1113 |
1206 |
6.2e-16 |
PFAM |
|
PH
|
1220 |
1323 |
3.46e-8 |
SMART |
|
low complexity region
|
1388 |
1407 |
N/A |
INTRINSIC |
|
low complexity region
|
1457 |
1469 |
N/A |
INTRINSIC |
|
low complexity region
|
1475 |
1486 |
N/A |
INTRINSIC |
|
low complexity region
|
1494 |
1529 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000043437
AA Change: I49V
PolyPhen 2
Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000047878
Gene: ENSMUSG00000038524
AA Change: I49V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FCH
|
21 |
100 |
1.6e-19 |
PFAM |
|
coiled coil region
|
188 |
209 |
N/A |
INTRINSIC |
|
low complexity region
|
346 |
357 |
N/A |
INTRINSIC |
|
SH3
|
469 |
526 |
1.34e-8 |
SMART |
|
SH3
|
547 |
606 |
1.94e-14 |
SMART |
|
low complexity region
|
622 |
634 |
N/A |
INTRINSIC |
|
low complexity region
|
657 |
686 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000163131
AA Change: I49V
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000133058
Gene: ENSMUSG00000038524
AA Change: I49V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FCH
|
12 |
107 |
1.6e-18 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164222
AA Change: I49V
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000128481
Gene: ENSMUSG00000038524
AA Change: I49V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FCH
|
12 |
56 |
2.5e-11 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166148
AA Change: I49V
PolyPhen 2
Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000129825
Gene: ENSMUSG00000038524
AA Change: I49V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FCH
|
12 |
93 |
1.6e-17 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (48/48) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
A |
T |
13: 77,331,728 (GRCm39) |
H47L |
possibly damaging |
Het |
| Adgrf5 |
T |
C |
17: 43,748,484 (GRCm39) |
S438P |
probably damaging |
Het |
| Atg16l2 |
C |
A |
7: 100,948,255 (GRCm39) |
K96N |
probably damaging |
Het |
| Bglap2 |
A |
T |
3: 88,285,567 (GRCm39) |
M35K |
possibly damaging |
Het |
| Btbd1 |
T |
A |
7: 81,465,720 (GRCm39) |
I209L |
probably damaging |
Het |
| Cdc34 |
T |
C |
10: 79,521,146 (GRCm39) |
Y148H |
probably damaging |
Het |
| Clcc1 |
A |
G |
3: 108,575,394 (GRCm39) |
D157G |
probably damaging |
Het |
| Csmd2 |
A |
T |
4: 128,458,021 (GRCm39) |
|
probably null |
Het |
| Ctsj |
G |
A |
13: 61,151,645 (GRCm39) |
S90L |
probably benign |
Het |
| Cycs |
A |
G |
6: 50,542,532 (GRCm39) |
F37L |
probably benign |
Het |
| Dync2li1 |
T |
A |
17: 84,955,086 (GRCm39) |
C248* |
probably null |
Het |
| Dzank1 |
A |
T |
2: 144,332,190 (GRCm39) |
I382N |
probably benign |
Het |
| Eif4a3l2 |
G |
A |
6: 116,529,130 (GRCm39) |
V336I |
probably benign |
Het |
| Enpp2 |
T |
C |
15: 54,739,066 (GRCm39) |
I406V |
probably damaging |
Het |
| Ero1b |
A |
G |
13: 12,615,015 (GRCm39) |
E282G |
probably damaging |
Het |
| Fastkd5 |
A |
T |
2: 130,457,647 (GRCm39) |
N314K |
possibly damaging |
Het |
| Fbh1 |
A |
T |
2: 11,768,797 (GRCm39) |
C300S |
probably benign |
Het |
| Foxn1 |
A |
G |
11: 78,249,615 (GRCm39) |
Y637H |
probably damaging |
Het |
| Gabarap |
A |
G |
11: 69,885,298 (GRCm39) |
E101G |
possibly damaging |
Het |
| Gm7247 |
A |
G |
14: 51,601,792 (GRCm39) |
R22G |
probably damaging |
Het |
| Gm7694 |
A |
T |
1: 170,129,180 (GRCm39) |
D116E |
possibly damaging |
Het |
| Gm9508 |
A |
G |
10: 77,532,629 (GRCm39) |
C147R |
unknown |
Het |
| Gpr152 |
A |
G |
19: 4,192,608 (GRCm39) |
M50V |
probably damaging |
Het |
| Hunk |
T |
A |
16: 90,269,450 (GRCm39) |
N331K |
possibly damaging |
Het |
| Il1r2 |
A |
G |
1: 40,162,409 (GRCm39) |
T351A |
probably benign |
Het |
| Iqub |
A |
G |
6: 24,500,393 (GRCm39) |
V287A |
possibly damaging |
Het |
| Lix1 |
A |
T |
17: 17,647,474 (GRCm39) |
T47S |
probably benign |
Het |
| Lrp1b |
A |
T |
2: 40,553,622 (GRCm39) |
|
probably null |
Het |
| Nup107 |
G |
A |
10: 117,606,103 (GRCm39) |
T500I |
probably damaging |
Het |
| Phf21b |
G |
C |
15: 84,675,295 (GRCm39) |
R405G |
probably benign |
Het |
| Piezo2 |
A |
G |
18: 63,241,101 (GRCm39) |
V709A |
probably damaging |
Het |
| Psme3ip1 |
T |
A |
8: 95,309,564 (GRCm39) |
K143* |
probably null |
Het |
| Rfc1 |
T |
C |
5: 65,468,387 (GRCm39) |
T109A |
probably damaging |
Het |
| Rpa1 |
A |
G |
11: 75,203,941 (GRCm39) |
V302A |
probably damaging |
Het |
| Ryr2 |
A |
G |
13: 11,760,517 (GRCm39) |
I1522T |
probably benign |
Het |
| Ryr3 |
C |
A |
2: 112,594,010 (GRCm39) |
R2578L |
possibly damaging |
Het |
| Scgb2b18 |
C |
T |
7: 32,872,681 (GRCm39) |
W41* |
probably null |
Het |
| Sdccag8 |
C |
G |
1: 176,695,856 (GRCm39) |
Q387E |
possibly damaging |
Het |
| Slc25a17 |
G |
A |
15: 81,213,346 (GRCm39) |
T119M |
probably damaging |
Het |
| Slc45a4 |
G |
T |
15: 73,477,489 (GRCm39) |
Q16K |
probably benign |
Het |
| Slc4a1 |
G |
A |
11: 102,252,245 (GRCm39) |
|
probably benign |
Het |
| Slc7a14 |
T |
C |
3: 31,311,880 (GRCm39) |
T47A |
probably benign |
Het |
| Stard6 |
A |
G |
18: 70,616,553 (GRCm39) |
R71G |
probably damaging |
Het |
| Tecr |
A |
G |
8: 84,298,564 (GRCm39) |
V321A |
probably damaging |
Het |
| Ttc3 |
T |
A |
16: 94,195,218 (GRCm39) |
F290L |
probably benign |
Het |
| Uqcc1 |
A |
G |
2: 155,753,731 (GRCm39) |
V48A |
probably benign |
Het |
| V1rd19 |
T |
A |
7: 23,703,308 (GRCm39) |
I258N |
probably damaging |
Het |
| Zar1 |
T |
A |
5: 72,737,655 (GRCm39) |
E249V |
possibly damaging |
Het |
| Zfp101 |
T |
C |
17: 33,601,559 (GRCm39) |
T66A |
possibly damaging |
Het |
| Zyx |
A |
G |
6: 42,328,593 (GRCm39) |
H230R |
probably benign |
Het |
|
| Other mutations in Fchsd1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00590:Fchsd1
|
APN |
18 |
38,098,946 (GRCm39) |
intron |
probably benign |
|
|
IGL01097:Fchsd1
|
APN |
18 |
38,100,810 (GRCm39) |
splice site |
probably null |
|
|
IGL02069:Fchsd1
|
APN |
18 |
38,100,667 (GRCm39) |
nonsense |
probably null |
|
|
R0015:Fchsd1
|
UTSW |
18 |
38,096,012 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0015:Fchsd1
|
UTSW |
18 |
38,096,012 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0755:Fchsd1
|
UTSW |
18 |
38,101,803 (GRCm39) |
splice site |
probably null |
|
|
R1524:Fchsd1
|
UTSW |
18 |
38,098,950 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2041:Fchsd1
|
UTSW |
18 |
38,100,729 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R3820:Fchsd1
|
UTSW |
18 |
38,102,510 (GRCm39) |
splice site |
probably benign |
|
|
R3821:Fchsd1
|
UTSW |
18 |
38,102,510 (GRCm39) |
splice site |
probably benign |
|
|
R4998:Fchsd1
|
UTSW |
18 |
38,092,926 (GRCm39) |
unclassified |
probably benign |
|
|
R5017:Fchsd1
|
UTSW |
18 |
38,092,926 (GRCm39) |
unclassified |
probably benign |
|
|
R5018:Fchsd1
|
UTSW |
18 |
38,092,926 (GRCm39) |
unclassified |
probably benign |
|
|
R5022:Fchsd1
|
UTSW |
18 |
38,097,863 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R5023:Fchsd1
|
UTSW |
18 |
38,097,863 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R5047:Fchsd1
|
UTSW |
18 |
38,092,926 (GRCm39) |
unclassified |
probably benign |
|
|
R5240:Fchsd1
|
UTSW |
18 |
38,092,926 (GRCm39) |
unclassified |
probably benign |
|
|
R5309:Fchsd1
|
UTSW |
18 |
38,092,926 (GRCm39) |
unclassified |
probably benign |
|
|
R5312:Fchsd1
|
UTSW |
18 |
38,092,926 (GRCm39) |
unclassified |
probably benign |
|
|
R5353:Fchsd1
|
UTSW |
18 |
38,092,926 (GRCm39) |
unclassified |
probably benign |
|
|
R5354:Fchsd1
|
UTSW |
18 |
38,092,926 (GRCm39) |
unclassified |
probably benign |
|
|
R5355:Fchsd1
|
UTSW |
18 |
38,092,926 (GRCm39) |
unclassified |
probably benign |
|
|
R5424:Fchsd1
|
UTSW |
18 |
38,092,926 (GRCm39) |
unclassified |
probably benign |
|
|
R5517:Fchsd1
|
UTSW |
18 |
38,092,926 (GRCm39) |
unclassified |
probably benign |
|
|
R5518:Fchsd1
|
UTSW |
18 |
38,092,926 (GRCm39) |
unclassified |
probably benign |
|
|
R5521:Fchsd1
|
UTSW |
18 |
38,099,537 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5590:Fchsd1
|
UTSW |
18 |
38,094,380 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5607:Fchsd1
|
UTSW |
18 |
38,092,926 (GRCm39) |
unclassified |
probably benign |
|
|
R5608:Fchsd1
|
UTSW |
18 |
38,092,926 (GRCm39) |
unclassified |
probably benign |
|
|
R5810:Fchsd1
|
UTSW |
18 |
38,092,926 (GRCm39) |
unclassified |
probably benign |
|
|
R5828:Fchsd1
|
UTSW |
18 |
38,092,926 (GRCm39) |
unclassified |
probably benign |
|
|
R5906:Fchsd1
|
UTSW |
18 |
38,092,926 (GRCm39) |
unclassified |
probably benign |
|
|
R5949:Fchsd1
|
UTSW |
18 |
38,092,926 (GRCm39) |
unclassified |
probably benign |
|
|
R5958:Fchsd1
|
UTSW |
18 |
38,092,926 (GRCm39) |
unclassified |
probably benign |
|
|
R5969:Fchsd1
|
UTSW |
18 |
38,092,926 (GRCm39) |
unclassified |
probably benign |
|
|
R6245:Fchsd1
|
UTSW |
18 |
38,095,828 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6322:Fchsd1
|
UTSW |
18 |
38,098,753 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6433:Fchsd1
|
UTSW |
18 |
38,097,137 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6439:Fchsd1
|
UTSW |
18 |
38,102,487 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6460:Fchsd1
|
UTSW |
18 |
38,092,897 (GRCm39) |
splice site |
probably null |
|
|
R6488:Fchsd1
|
UTSW |
18 |
38,100,321 (GRCm39) |
splice site |
probably null |
|
|
R6650:Fchsd1
|
UTSW |
18 |
38,099,555 (GRCm39) |
nonsense |
probably null |
|
|
R7715:Fchsd1
|
UTSW |
18 |
38,099,695 (GRCm39) |
splice site |
probably null |
|
|
R7962:Fchsd1
|
UTSW |
18 |
38,097,212 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8140:Fchsd1
|
UTSW |
18 |
38,097,395 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8398:Fchsd1
|
UTSW |
18 |
38,099,577 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8536:Fchsd1
|
UTSW |
18 |
38,100,823 (GRCm39) |
missense |
probably benign |
0.24 |
|
R8747:Fchsd1
|
UTSW |
18 |
38,096,035 (GRCm39) |
missense |
probably benign |
|
|
R9209:Fchsd1
|
UTSW |
18 |
38,092,706 (GRCm39) |
missense |
unknown |
|
|
R9745:Fchsd1
|
UTSW |
18 |
38,102,425 (GRCm39) |
missense |
probably benign |
0.01 |
|
X0024:Fchsd1
|
UTSW |
18 |
38,102,444 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGAGGGAGAATTTGGACCCAG -3'
(R):5'- AGGACTCTTGTCTTTCAGACCC -3'
Sequencing Primer
(F):5'- ACTTGTCCAAGGTTGCACAG -3'
(R):5'- AGACCCACTCCTTCTGGATGTAG -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation