Incidental Mutation 'R5355:Fchsd1'
| ID |
424068 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fchsd1
|
| Ensembl Gene |
ENSMUSG00000038524 |
| Gene Name |
FCH and double SH3 domains 1 |
| Synonyms |
A030002D08Rik |
| MMRRC Submission |
042934-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.102)
|
| Stock # |
R5355 (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: 99.4%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.2%
|
| Validation Efficiency |
94% (50/53) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1a |
T |
C |
5: 8,776,873 (GRCm39) |
L857P |
probably damaging |
Het |
| Adam12 |
T |
C |
7: 133,489,671 (GRCm39) |
*582W |
probably null |
Het |
| Adra1d |
A |
G |
2: 131,403,007 (GRCm39) |
V361A |
probably damaging |
Het |
| Ank2 |
A |
G |
3: 126,737,698 (GRCm39) |
|
probably benign |
Het |
| Atxn10 |
T |
A |
15: 85,346,515 (GRCm39) |
N424K |
probably damaging |
Het |
| C8b |
A |
G |
4: 104,637,860 (GRCm39) |
T111A |
probably benign |
Het |
| Ccdc168 |
A |
C |
1: 44,097,139 (GRCm39) |
C1320G |
possibly damaging |
Het |
| Cdc45 |
C |
T |
16: 18,614,647 (GRCm39) |
R205H |
probably damaging |
Het |
| Cdr2l |
T |
C |
11: 115,284,396 (GRCm39) |
V244A |
possibly damaging |
Het |
| Col11a2 |
A |
G |
17: 34,270,775 (GRCm39) |
M468V |
probably benign |
Het |
| Col4a2 |
G |
A |
8: 11,495,984 (GRCm39) |
R1535H |
probably damaging |
Het |
| Cryab |
A |
T |
9: 50,664,751 (GRCm39) |
S59C |
probably damaging |
Het |
| Cuzd1 |
G |
A |
7: 130,917,853 (GRCm39) |
T249I |
probably damaging |
Het |
| Disp2 |
G |
A |
2: 118,617,392 (GRCm39) |
V129M |
probably benign |
Het |
| Dlg2 |
G |
T |
7: 91,099,011 (GRCm39) |
R31L |
probably benign |
Het |
| Dthd1 |
A |
C |
5: 62,996,730 (GRCm39) |
L488F |
probably damaging |
Het |
| Dusp29 |
G |
A |
14: 21,727,091 (GRCm39) |
R186W |
probably benign |
Het |
| Fat2 |
T |
G |
11: 55,172,992 (GRCm39) |
I2574L |
probably damaging |
Het |
| Fryl |
T |
C |
5: 73,231,247 (GRCm39) |
D1610G |
probably damaging |
Het |
| Gm10330 |
T |
A |
12: 23,830,131 (GRCm39) |
N17Y |
probably damaging |
Het |
| Gm4787 |
T |
A |
12: 81,424,239 (GRCm39) |
R640* |
probably null |
Het |
| H2bc13 |
A |
T |
13: 21,900,030 (GRCm39) |
I95N |
probably damaging |
Het |
| Ift88 |
T |
A |
14: 57,675,699 (GRCm39) |
S71T |
probably benign |
Het |
| Isoc2b |
A |
G |
7: 4,852,357 (GRCm39) |
|
probably benign |
Het |
| Itgb2 |
G |
T |
10: 77,393,886 (GRCm39) |
R442L |
probably benign |
Het |
| Lama5 |
A |
T |
2: 179,823,444 (GRCm39) |
N2658K |
possibly damaging |
Het |
| Lemd3 |
A |
T |
10: 120,769,538 (GRCm39) |
I598K |
probably damaging |
Het |
| Lrp2 |
A |
T |
2: 69,285,182 (GRCm39) |
C3825* |
probably null |
Het |
| Mep1a |
T |
C |
17: 43,788,037 (GRCm39) |
D673G |
probably damaging |
Het |
| Met |
A |
G |
6: 17,491,361 (GRCm39) |
Y41C |
probably damaging |
Het |
| Mfn2 |
A |
G |
4: 147,979,035 (GRCm39) |
V99A |
probably damaging |
Het |
| Mmadhc |
A |
G |
2: 50,181,436 (GRCm39) |
I78T |
probably benign |
Het |
| Mmp9 |
C |
A |
2: 164,792,912 (GRCm39) |
P389T |
possibly damaging |
Het |
| Mvk |
T |
G |
5: 114,590,499 (GRCm39) |
S7A |
probably damaging |
Het |
| Nlrp1a |
T |
A |
11: 71,015,077 (GRCm39) |
T58S |
probably benign |
Het |
| Nlrp1c-ps |
C |
A |
11: 71,148,839 (GRCm39) |
|
noncoding transcript |
Het |
| Nr1h3 |
A |
G |
2: 91,022,253 (GRCm39) |
I125T |
possibly damaging |
Het |
| Or2a55-ps1 |
C |
T |
6: 43,071,598 (GRCm39) |
|
noncoding transcript |
Het |
| Or8k39 |
A |
T |
2: 86,563,680 (GRCm39) |
I92K |
probably damaging |
Het |
| Parn |
A |
G |
16: 13,485,886 (GRCm39) |
I3T |
possibly damaging |
Het |
| Parp8 |
A |
G |
13: 116,998,740 (GRCm39) |
|
probably null |
Het |
| Parva |
T |
C |
7: 112,143,475 (GRCm39) |
|
probably null |
Het |
| Pwp2 |
A |
C |
10: 78,011,378 (GRCm39) |
I672M |
possibly damaging |
Het |
| Sfswap |
C |
T |
5: 129,616,810 (GRCm39) |
T418I |
probably benign |
Het |
| Slc6a3 |
A |
G |
13: 73,709,078 (GRCm39) |
Y334C |
probably damaging |
Het |
| Slc7a13 |
C |
A |
4: 19,839,267 (GRCm39) |
T290K |
probably benign |
Het |
| Spry2 |
A |
G |
14: 106,130,712 (GRCm39) |
L158P |
probably damaging |
Het |
| Usp25 |
A |
G |
16: 76,847,342 (GRCm39) |
E150G |
probably damaging |
Het |
| Zfp747 |
A |
G |
7: 126,973,769 (GRCm39) |
F134L |
possibly damaging |
Het |
| Zp3r |
A |
G |
1: 130,524,518 (GRCm39) |
F175S |
probably benign |
Het |
| Zscan22 |
C |
A |
7: 12,640,435 (GRCm39) |
N67K |
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 |
|
|
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'- AGTCTGTCTTAGGAATATCCCTGAC -3'
(R):5'- CAATAGGCATTTTGAGGGGC -3'
Sequencing Primer
(F):5'- GTCTTAGGAATATCCCTGACAATTC -3'
(R):5'- TTTATAGCTTAGGCTGCTG -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation