Incidental Mutation 'R9209:Fchsd1'
| ID |
698748 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fchsd1
|
| Ensembl Gene |
ENSMUSG00000038524 |
| Gene Name |
FCH and double SH3 domains 1 |
| Synonyms |
A030002D08Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.124)
|
| Stock # |
R9209 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
38090484-38102827 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 38092706 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 668
(M668K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047878
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043437]
[ENSMUST00000043498]
[ENSMUST00000070709]
[ENSMUST00000091932]
[ENSMUST00000163128]
[ENSMUST00000163591]
[ENSMUST00000168056]
[ENSMUST00000169360]
[ENSMUST00000169498]
[ENSMUST00000176104]
[ENSMUST00000176902]
[ENSMUST00000177058]
|
| AlphaFold |
Q6PFY1 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000043437
AA Change: M668K
|
| SMART Domains |
Protein: ENSMUSP00000047878
Gene: ENSMUSG00000038524
AA Change: M668K
| 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 |
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 |
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: 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: ENSMUST00000169498
|
| SMART Domains |
Protein: ENSMUSP00000128949
Gene: ENSMUSG00000044024
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
103 |
121 |
N/A |
INTRINSIC |
|
| 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: 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
96% (73/76) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610021A01Rik |
T |
A |
7: 41,275,837 (GRCm39) |
N513K |
possibly damaging |
Het |
| Actl6a |
T |
A |
3: 32,779,469 (GRCm39) |
I399N |
probably damaging |
Het |
| Adamts5 |
A |
G |
16: 85,666,971 (GRCm39) |
V507A |
probably damaging |
Het |
| Ap3d1 |
A |
G |
10: 80,554,918 (GRCm39) |
V469A |
probably benign |
Het |
| Arhgef4 |
G |
T |
1: 34,764,241 (GRCm39) |
|
probably null |
Het |
| Arhgef4 |
A |
T |
1: 34,849,576 (GRCm39) |
Q389L |
probably benign |
Het |
| Atad2 |
A |
G |
15: 57,980,194 (GRCm39) |
V106A |
possibly damaging |
Het |
| Azin2 |
T |
C |
4: 128,841,341 (GRCm39) |
E275G |
probably damaging |
Het |
| Bhlhe23 |
A |
G |
2: 180,418,143 (GRCm39) |
S132P |
probably damaging |
Het |
| Capn12 |
A |
G |
7: 28,581,243 (GRCm39) |
Y32C |
probably damaging |
Het |
| Celsr2 |
A |
T |
3: 108,321,349 (GRCm39) |
S488T |
probably benign |
Het |
| Cenpx |
A |
G |
11: 120,602,582 (GRCm39) |
V27A |
possibly damaging |
Het |
| Clca3a2 |
G |
A |
3: 144,778,005 (GRCm39) |
P760L |
probably benign |
Het |
| Clstn3 |
T |
C |
6: 124,408,571 (GRCm39) |
S951G |
probably benign |
Het |
| Clybl |
C |
A |
14: 122,621,670 (GRCm39) |
P286Q |
probably benign |
Het |
| Cmya5 |
T |
A |
13: 93,226,866 (GRCm39) |
M2741L |
probably benign |
Het |
| Cntnap2 |
G |
A |
6: 47,026,183 (GRCm39) |
G944E |
probably damaging |
Het |
| Col8a1 |
A |
C |
16: 57,447,283 (GRCm39) |
Y742* |
probably null |
Het |
| Crb1 |
T |
C |
1: 139,171,051 (GRCm39) |
K780E |
probably damaging |
Het |
| Crygc |
T |
A |
1: 65,112,376 (GRCm39) |
Y66F |
probably benign |
Het |
| Cyp2b9 |
G |
A |
7: 25,873,004 (GRCm39) |
G49E |
possibly damaging |
Het |
| D130043K22Rik |
T |
C |
13: 25,041,090 (GRCm39) |
S171P |
possibly damaging |
Het |
| Dhx36 |
T |
C |
3: 62,378,895 (GRCm39) |
I890V |
probably benign |
Het |
| Dpp9 |
C |
T |
17: 56,512,765 (GRCm39) |
G148S |
probably damaging |
Het |
| Eml6 |
G |
T |
11: 29,781,175 (GRCm39) |
S619Y |
probably damaging |
Het |
| Enpp4 |
A |
T |
17: 44,412,252 (GRCm39) |
L319* |
probably null |
Het |
| Esyt1 |
T |
C |
10: 128,361,356 (GRCm39) |
S113G |
probably benign |
Het |
| Fat1 |
A |
G |
8: 45,404,791 (GRCm39) |
D514G |
possibly damaging |
Het |
| Fbxo16 |
G |
A |
14: 65,524,594 (GRCm39) |
R38Q |
probably damaging |
Het |
| Gpr149 |
C |
T |
3: 62,511,093 (GRCm39) |
S302N |
probably benign |
Het |
| Gsap |
A |
G |
5: 21,433,064 (GRCm39) |
K258E |
probably benign |
Het |
| Helq |
C |
A |
5: 100,939,218 (GRCm39) |
V443F |
probably benign |
Het |
| Helq |
T |
A |
5: 100,939,219 (GRCm39) |
K442N |
probably damaging |
Het |
| Ighv1-37 |
T |
C |
12: 114,860,123 (GRCm39) |
E29G |
possibly damaging |
Het |
| Ighv1-9 |
C |
A |
12: 114,547,620 (GRCm39) |
M1I |
probably null |
Het |
| Itga6 |
T |
G |
2: 71,671,477 (GRCm39) |
F743V |
probably benign |
Het |
| Lpin1 |
C |
A |
12: 16,588,548 (GRCm39) |
D881Y |
|
Het |
| Lypd8 |
T |
A |
11: 58,273,640 (GRCm39) |
C40S |
possibly damaging |
Het |
| Macf1 |
C |
T |
4: 123,326,227 (GRCm39) |
R5092Q |
probably damaging |
Het |
| Mcm7 |
A |
G |
5: 138,166,593 (GRCm39) |
|
probably null |
Het |
| Micall2 |
G |
A |
5: 139,696,170 (GRCm39) |
T831I |
unknown |
Het |
| Myo18b |
A |
T |
5: 113,022,927 (GRCm39) |
M155K |
unknown |
Het |
| Nckap5 |
T |
A |
1: 125,867,928 (GRCm39) |
H201L |
unknown |
Het |
| Ndst2 |
A |
T |
14: 20,779,240 (GRCm39) |
D333E |
possibly damaging |
Het |
| Nlgn1 |
A |
G |
3: 25,966,804 (GRCm39) |
|
probably null |
Het |
| Nup188 |
T |
G |
2: 30,232,397 (GRCm39) |
Y1483D |
probably benign |
Het |
| Or4c109 |
A |
C |
2: 88,818,057 (GRCm39) |
L163* |
probably null |
Het |
| Or52ae9 |
T |
A |
7: 103,390,319 (GRCm39) |
S43C |
probably benign |
Het |
| Or52n4b |
A |
C |
7: 108,144,664 (GRCm39) |
I311L |
probably benign |
Het |
| Or5p66 |
T |
A |
7: 107,885,526 (GRCm39) |
Y269F |
probably benign |
Het |
| Or8g33 |
T |
A |
9: 39,337,635 (GRCm39) |
H244L |
probably damaging |
Het |
| Peg3 |
A |
C |
7: 6,711,226 (GRCm39) |
I1332S |
possibly damaging |
Het |
| Piezo2 |
T |
C |
18: 63,154,372 (GRCm39) |
K2469R |
probably damaging |
Het |
| Pik3cg |
T |
C |
12: 32,247,312 (GRCm39) |
M804V |
probably damaging |
Het |
| Polq |
A |
T |
16: 36,869,011 (GRCm39) |
I794F |
possibly damaging |
Het |
| Rasgef1b |
A |
G |
5: 99,370,191 (GRCm39) |
V437A |
probably benign |
Het |
| Rdm1 |
T |
A |
11: 101,518,857 (GRCm39) |
D21E |
probably benign |
Het |
| Ripk4 |
G |
T |
16: 97,551,311 (GRCm39) |
Q219K |
possibly damaging |
Het |
| Ropn1l |
T |
C |
15: 31,441,471 (GRCm39) |
I217V |
|
Het |
| Sdf2 |
T |
C |
11: 78,136,858 (GRCm39) |
S13P |
unknown |
Het |
| Selenbp1 |
A |
G |
3: 94,847,079 (GRCm39) |
T202A |
probably benign |
Het |
| Slfn5 |
T |
C |
11: 82,850,933 (GRCm39) |
F410S |
possibly damaging |
Het |
| Srrm2 |
A |
G |
17: 24,039,880 (GRCm39) |
T2175A |
probably benign |
Het |
| St6galnac3 |
T |
C |
3: 153,117,360 (GRCm39) |
Y121C |
possibly damaging |
Het |
| Stat1 |
A |
G |
1: 52,184,337 (GRCm39) |
N417S |
probably benign |
Het |
| Tead1 |
T |
C |
7: 112,475,378 (GRCm39) |
F276L |
probably damaging |
Het |
| Teddm3 |
A |
T |
16: 20,971,737 (GRCm39) |
S277R |
probably benign |
Het |
| Tmc2 |
A |
G |
2: 130,103,317 (GRCm39) |
|
probably null |
Het |
| Tmem156 |
G |
A |
5: 65,231,127 (GRCm39) |
L248F |
probably damaging |
Het |
| Tnn |
T |
C |
1: 159,953,986 (GRCm39) |
S590G |
probably benign |
Het |
| Trmt44 |
A |
G |
5: 35,731,422 (GRCm39) |
|
probably null |
Het |
| Upp2 |
T |
A |
2: 58,668,022 (GRCm39) |
Y238* |
probably null |
Het |
| Usp32 |
T |
C |
11: 84,930,838 (GRCm39) |
T531A |
probably damaging |
Het |
| Vmn2r78 |
A |
T |
7: 86,569,431 (GRCm39) |
D108V |
probably benign |
Het |
| Wdfy3 |
G |
T |
5: 102,078,830 (GRCm39) |
A824E |
probably benign |
Het |
| Xylt1 |
T |
C |
7: 117,255,870 (GRCm39) |
V814A |
probably benign |
Het |
| Zfy1 |
C |
T |
Y: 732,990 (GRCm39) |
R281H |
unknown |
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 |
|
|
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 |
|
|
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'- GAACAGGGTAAGTCTCCACC -3'
(R):5'- TAGACAAAGTCCTTGACTGCCC -3'
Sequencing Primer
(F):5'- CACCCATGGAGGTGAGAAC -3'
(R):5'- AAAGTCCTTGACTGCCCTGGAC -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation