Incidental Mutation 'R5424:Fchsd1'
| ID |
426786 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fchsd1
|
| Ensembl Gene |
ENSMUSG00000038524 |
| Gene Name |
FCH and double SH3 domains 1 |
| Synonyms |
A030002D08Rik |
| MMRRC Submission |
042990-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.124)
|
| Stock # |
R5424 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
38090484-38102827 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
C to T
at 38092926 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135615
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043437]
[ENSMUST00000043498]
[ENSMUST00000070709]
[ENSMUST00000091932]
[ENSMUST00000163128]
[ENSMUST00000163591]
[ENSMUST00000177058]
[ENSMUST00000169360]
[ENSMUST00000176104]
[ENSMUST00000176902]
[ENSMUST00000168056]
[ENSMUST00000169498]
|
| AlphaFold |
Q6PFY1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043437
|
| SMART Domains |
Protein: ENSMUSP00000047878
Gene: ENSMUSG00000038524
| 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 |
probably benign
Transcript: ENSMUST00000043498
|
| SMART Domains |
Protein: ENSMUSP00000037981
Gene: ENSMUSG00000024454
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Hist_deacetyl
|
11 |
315 |
1.2e-82 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000070709
|
| SMART Domains |
Protein: ENSMUSP00000070280
Gene: ENSMUSG00000044024
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RELT
|
16 |
64 |
1.2e-22 |
PFAM |
|
low complexity region
|
194 |
212 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000091932
|
| SMART Domains |
Protein: ENSMUSP00000089552
Gene: ENSMUSG00000044024
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RELT
|
16 |
64 |
8.3e-23 |
PFAM |
|
low complexity region
|
194 |
212 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153945
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163128
|
| SMART Domains |
Protein: ENSMUSP00000127234
Gene: ENSMUSG00000044024
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RELT
|
16 |
64 |
5.2e-24 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163591
|
| SMART Domains |
Protein: ENSMUSP00000129299
Gene: ENSMUSG00000044024
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
103 |
121 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000165643
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166727
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166531
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000164499
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177058
|
| SMART Domains |
Protein: ENSMUSP00000135615
Gene: ENSMUSG00000044024
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RELT
|
16 |
64 |
1.2e-22 |
PFAM |
|
low complexity region
|
194 |
212 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169360
|
| SMART Domains |
Protein: ENSMUSP00000129880
Gene: ENSMUSG00000044024
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RELT
|
16 |
64 |
4.6e-23 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176104
|
| SMART Domains |
Protein: ENSMUSP00000135556
Gene: ENSMUSG00000044024
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RELT
|
16 |
60 |
3.3e-22 |
PFAM |
|
low complexity region
|
194 |
212 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176902
|
| SMART Domains |
Protein: ENSMUSP00000135176
Gene: ENSMUSG00000044024
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
103 |
121 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168056
|
| SMART Domains |
Protein: ENSMUSP00000130051
Gene: ENSMUSG00000044024
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RELT
|
16 |
64 |
1.9e-23 |
PFAM |
|
low complexity region
|
104 |
116 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169498
|
| SMART Domains |
Protein: ENSMUSP00000128949
Gene: ENSMUSG00000044024
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
103 |
121 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
100% (59/59) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AA986860 |
C |
A |
1: 130,670,678 (GRCm39) |
A300D |
probably damaging |
Het |
| Abca14 |
T |
C |
7: 119,810,777 (GRCm39) |
Y119H |
probably benign |
Het |
| Actb |
A |
G |
5: 142,891,306 (GRCm39) |
|
probably benign |
Het |
| Ada |
T |
A |
2: 163,570,045 (GRCm39) |
K323* |
probably null |
Het |
| Adam22 |
C |
A |
5: 8,140,182 (GRCm39) |
G202W |
probably damaging |
Het |
| Aire |
A |
T |
10: 77,872,553 (GRCm39) |
V355E |
probably damaging |
Het |
| Atp8a1 |
T |
C |
5: 67,969,443 (GRCm39) |
I117M |
probably damaging |
Het |
| Cdc45 |
C |
T |
16: 18,614,647 (GRCm39) |
R205H |
probably damaging |
Het |
| Clca3a2 |
A |
G |
3: 144,789,942 (GRCm39) |
F465L |
probably damaging |
Het |
| Cpne8 |
T |
A |
15: 90,400,260 (GRCm39) |
M345L |
probably benign |
Het |
| Ddx54 |
T |
C |
5: 120,757,926 (GRCm39) |
|
probably null |
Het |
| Dnah14 |
T |
G |
1: 181,590,875 (GRCm39) |
M3256R |
possibly damaging |
Het |
| Epha2 |
T |
A |
4: 141,046,251 (GRCm39) |
Y483* |
probably null |
Het |
| Ermard |
T |
A |
17: 15,280,032 (GRCm39) |
S509T |
possibly damaging |
Het |
| Fam186a |
G |
T |
15: 99,843,644 (GRCm39) |
H867N |
unknown |
Het |
| Gas8 |
C |
A |
8: 124,253,251 (GRCm39) |
L200I |
possibly damaging |
Het |
| Gfra2 |
A |
T |
14: 71,133,287 (GRCm39) |
D39V |
probably damaging |
Het |
| Gm10770 |
T |
C |
2: 150,020,948 (GRCm39) |
T190A |
probably benign |
Het |
| Gm2617 |
T |
C |
19: 9,301,320 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5592 |
C |
T |
7: 40,805,017 (GRCm39) |
|
probably benign |
Het |
| Gmppb |
T |
A |
9: 107,929,204 (GRCm39) |
|
probably null |
Het |
| Ifit2 |
T |
A |
19: 34,551,458 (GRCm39) |
C333S |
probably benign |
Het |
| Ighg2b |
T |
C |
12: 113,271,550 (GRCm39) |
K1R |
unknown |
Het |
| Impdh2-ps |
G |
T |
8: 100,758,141 (GRCm39) |
|
noncoding transcript |
Het |
| Kdelr2 |
A |
C |
5: 143,403,899 (GRCm39) |
E96A |
probably benign |
Het |
| Lama2 |
G |
A |
10: 26,860,392 (GRCm39) |
R3032C |
probably damaging |
Het |
| Lipg |
T |
A |
18: 75,087,324 (GRCm39) |
I166F |
probably damaging |
Het |
| Lrrc8b |
T |
C |
5: 105,628,569 (GRCm39) |
V305A |
probably damaging |
Het |
| Marveld2 |
T |
C |
13: 100,748,695 (GRCm39) |
H128R |
probably benign |
Het |
| Mgat4a |
A |
G |
1: 37,505,636 (GRCm39) |
V189A |
probably benign |
Het |
| Mroh2b |
A |
T |
15: 4,971,094 (GRCm39) |
E1033V |
probably damaging |
Het |
| Mtmr7 |
A |
G |
8: 41,059,873 (GRCm39) |
V80A |
probably benign |
Het |
| Ndrg2 |
A |
G |
14: 52,146,342 (GRCm39) |
S153P |
probably damaging |
Het |
| Nelfa |
C |
T |
5: 34,079,189 (GRCm39) |
|
probably null |
Het |
| Nes |
G |
T |
3: 87,886,131 (GRCm39) |
E1419D |
possibly damaging |
Het |
| Nipa1 |
C |
A |
7: 55,629,223 (GRCm39) |
V297L |
possibly damaging |
Het |
| Obox5 |
T |
A |
7: 15,492,807 (GRCm39) |
I254K |
probably benign |
Het |
| Or56b35 |
T |
C |
7: 104,963,778 (GRCm39) |
V189A |
possibly damaging |
Het |
| Or8k24 |
G |
A |
2: 86,216,184 (GRCm39) |
Q193* |
probably null |
Het |
| Pcdhga7 |
G |
A |
18: 37,848,388 (GRCm39) |
A132T |
probably benign |
Het |
| Pla1a |
T |
A |
16: 38,235,137 (GRCm39) |
I186F |
probably damaging |
Het |
| Plscr4 |
T |
A |
9: 92,372,075 (GRCm39) |
M282K |
possibly damaging |
Het |
| Rpl22l1 |
T |
C |
3: 28,861,047 (GRCm39) |
|
probably benign |
Het |
| Scn5a |
T |
C |
9: 119,330,800 (GRCm39) |
D1246G |
probably damaging |
Het |
| Senp7 |
A |
G |
16: 56,006,471 (GRCm39) |
S932G |
possibly damaging |
Het |
| Slc51a |
C |
A |
16: 32,297,565 (GRCm39) |
A111S |
probably benign |
Het |
| Srcin1 |
T |
A |
11: 97,427,885 (GRCm39) |
K236* |
probably null |
Het |
| Tbxas1 |
A |
G |
6: 39,004,839 (GRCm39) |
D362G |
possibly damaging |
Het |
| Tcl1b5 |
T |
C |
12: 105,146,275 (GRCm39) |
I116T |
possibly damaging |
Het |
| Tgm7 |
T |
A |
2: 120,929,522 (GRCm39) |
M251L |
probably damaging |
Het |
| Tnn |
T |
A |
1: 159,950,272 (GRCm39) |
Q778L |
possibly damaging |
Het |
| Wdr17 |
C |
T |
8: 55,134,434 (GRCm39) |
G349R |
probably damaging |
Het |
| Zfp622 |
T |
C |
15: 25,984,855 (GRCm39) |
C74R |
probably damaging |
Het |
| Zfp646 |
C |
A |
7: 127,481,875 (GRCm39) |
H1351N |
possibly damaging |
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 |
|
|
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 |
|
|
R7331:Fchsd1
|
UTSW |
18 |
38,101,823 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
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'- GAGTCTGTCTTAGGAATATCCCTGAC -3'
(R):5'- TCAATAGGCATTTTGAGGGGC -3'
Sequencing Primer
(F):5'- GTCTTAGGAATATCCCTGACAATTC -3'
(R):5'- TTTATAGCTTAGGCTGCTG -3'
|
| Posted On |
2016-09-01 |
Incidental Mutation