Incidental Mutation 'R5353:Fchsd1'
| ID |
423938 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fchsd1
|
| Ensembl Gene |
ENSMUSG00000038524 |
| Gene Name |
FCH and double SH3 domains 1 |
| Synonyms |
A030002D08Rik |
| MMRRC Submission |
042932-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.124)
|
| Stock # |
R5353 (G1)
|
| Quality Score |
183 |
|
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: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.2%
|
| Validation Efficiency |
100% (59/59) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim3 |
A |
G |
18: 61,934,470 (GRCm39) |
S649P |
probably damaging |
Het |
| Adam22 |
C |
A |
5: 8,140,182 (GRCm39) |
G202W |
probably damaging |
Het |
| Adamts1 |
T |
A |
16: 85,599,496 (GRCm39) |
M35L |
probably benign |
Het |
| Adgrg3 |
A |
T |
8: 95,762,556 (GRCm39) |
H202L |
probably damaging |
Het |
| Anln |
G |
T |
9: 22,271,813 (GRCm39) |
R681S |
probably damaging |
Het |
| Aprt |
A |
T |
8: 123,302,147 (GRCm39) |
M1K |
probably null |
Het |
| Arid3b |
G |
T |
9: 57,702,320 (GRCm39) |
|
probably null |
Het |
| Cbl |
A |
G |
9: 44,084,620 (GRCm39) |
F172L |
probably damaging |
Het |
| Cd109 |
G |
T |
9: 78,617,521 (GRCm39) |
V1340L |
probably damaging |
Het |
| Cdc45 |
C |
T |
16: 18,614,647 (GRCm39) |
R205H |
probably damaging |
Het |
| Chrm3 |
A |
G |
13: 9,928,593 (GRCm39) |
Y148H |
probably damaging |
Het |
| Cog7 |
A |
C |
7: 121,540,470 (GRCm39) |
|
probably null |
Het |
| Cpsf1 |
A |
T |
15: 76,486,771 (GRCm39) |
I255N |
probably damaging |
Het |
| Crebzf |
G |
A |
7: 90,092,622 (GRCm39) |
G134R |
probably damaging |
Het |
| Crybg1 |
T |
C |
10: 43,849,661 (GRCm39) |
S1705G |
probably damaging |
Het |
| Dock6 |
A |
T |
9: 21,726,082 (GRCm39) |
H1409Q |
probably benign |
Het |
| Fank1 |
A |
G |
7: 133,478,632 (GRCm39) |
D232G |
probably damaging |
Het |
| Fat1 |
G |
T |
8: 45,489,168 (GRCm39) |
V3480L |
probably benign |
Het |
| Fmn2 |
G |
T |
1: 174,330,572 (GRCm39) |
G321W |
unknown |
Het |
| Greb1 |
A |
T |
12: 16,738,567 (GRCm39) |
Y1465* |
probably null |
Het |
| Hdac9 |
G |
A |
12: 34,443,392 (GRCm39) |
Q330* |
probably null |
Het |
| Kcnt2 |
C |
T |
1: 140,354,639 (GRCm39) |
T298I |
probably damaging |
Het |
| Knl1 |
A |
G |
2: 118,901,464 (GRCm39) |
D1055G |
probably benign |
Het |
| Mroh2b |
T |
C |
15: 4,946,660 (GRCm39) |
S487P |
probably damaging |
Het |
| Naa38 |
G |
A |
11: 69,287,408 (GRCm39) |
V110I |
probably benign |
Het |
| Nkd2 |
T |
C |
13: 73,969,557 (GRCm39) |
H303R |
probably damaging |
Het |
| Nr1d2 |
A |
G |
14: 18,222,125 (GRCm38) |
C49R |
probably benign |
Het |
| Or4c111 |
A |
G |
2: 88,844,099 (GRCm39) |
V103A |
probably benign |
Het |
| Or52b2 |
A |
G |
7: 104,986,324 (GRCm39) |
Y200H |
probably damaging |
Het |
| Ovch2 |
T |
A |
7: 107,393,631 (GRCm39) |
E165V |
probably damaging |
Het |
| Phyh |
A |
T |
2: 4,947,012 (GRCm39) |
|
probably benign |
Het |
| Pik3r4 |
G |
A |
9: 105,545,137 (GRCm39) |
|
probably null |
Het |
| Ppip5k1 |
A |
C |
2: 121,142,201 (GRCm39) |
V1416G |
probably benign |
Het |
| Ppm1b |
T |
C |
17: 85,301,537 (GRCm39) |
V139A |
probably benign |
Het |
| Ppp1r12a |
T |
G |
10: 108,097,077 (GRCm39) |
|
probably null |
Het |
| Pramel20 |
A |
G |
4: 143,297,807 (GRCm39) |
T76A |
probably benign |
Het |
| Psmc5 |
G |
T |
11: 106,152,327 (GRCm39) |
A115S |
probably damaging |
Het |
| Ptpn5 |
T |
A |
7: 46,731,642 (GRCm39) |
E409V |
probably benign |
Het |
| Ptprg |
T |
A |
14: 11,554,235 (GRCm38) |
|
probably benign |
Het |
| Qrich1 |
G |
T |
9: 108,422,164 (GRCm39) |
V593F |
probably damaging |
Het |
| Rbbp9 |
T |
C |
2: 144,385,741 (GRCm39) |
I175V |
probably benign |
Het |
| Selenot |
T |
C |
3: 58,493,387 (GRCm39) |
F88S |
possibly damaging |
Het |
| Sp110 |
C |
T |
1: 85,516,841 (GRCm39) |
E219K |
possibly damaging |
Het |
| Spred2 |
A |
G |
11: 19,968,155 (GRCm39) |
D208G |
possibly damaging |
Het |
| Surf1 |
T |
C |
2: 26,804,204 (GRCm39) |
T197A |
probably benign |
Het |
| Taco1 |
G |
A |
11: 105,963,539 (GRCm39) |
|
probably null |
Het |
| Tas2r109 |
A |
G |
6: 132,957,594 (GRCm39) |
V112A |
possibly damaging |
Het |
| Tpr |
C |
T |
1: 150,321,675 (GRCm39) |
R3C |
probably damaging |
Het |
| Uggt2 |
A |
G |
14: 119,319,182 (GRCm39) |
I280T |
probably benign |
Het |
| Yipf2 |
A |
G |
9: 21,503,228 (GRCm39) |
Y80H |
possibly damaging |
Het |
| Zscan12 |
T |
C |
13: 21,548,178 (GRCm39) |
V120A |
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 |
|
|
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 |
|
|
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'- TCCAGAGTCTGTCTTAGGAATATCC -3'
(R):5'- ATAGGCATTTTGAGGGGCAG -3'
Sequencing Primer
(F):5'- GAGTCTGTCTTAGGAATATCCCTGAC -3'
(R):5'- TTTATAGCTTAGGCTGCTG -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation