Incidental Mutation 'R5828:Fchsd1'
ID |
450299 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fchsd1
|
Ensembl Gene |
ENSMUSG00000038524 |
Gene Name |
FCH and double SH3 domains 1 |
Synonyms |
A030002D08Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.124)
|
Stock # |
R5828 (G1)
|
Quality Score |
222 |
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: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.8%
|
Validation Efficiency |
100% (63/63) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933409G03Rik |
A |
G |
2: 68,432,144 (GRCm39) |
D95G |
unknown |
Het |
Arl10 |
T |
A |
13: 54,726,768 (GRCm39) |
V182E |
probably damaging |
Het |
Cacna1g |
T |
G |
11: 94,347,980 (GRCm39) |
S703R |
probably damaging |
Het |
Ces2a |
C |
A |
8: 105,465,956 (GRCm39) |
T363N |
probably benign |
Het |
Col14a1 |
G |
A |
15: 55,300,372 (GRCm39) |
V967I |
unknown |
Het |
Col22a1 |
A |
T |
15: 71,881,340 (GRCm39) |
F4I |
probably benign |
Het |
D630045J12Rik |
A |
G |
6: 38,173,302 (GRCm39) |
W289R |
possibly damaging |
Het |
Disc1 |
A |
G |
8: 125,977,763 (GRCm39) |
Q793R |
probably damaging |
Het |
Dnhd1 |
C |
T |
7: 105,369,388 (GRCm39) |
T4337I |
probably benign |
Het |
Eif2b5 |
T |
A |
16: 20,321,536 (GRCm39) |
V363D |
possibly damaging |
Het |
Emsy |
T |
C |
7: 98,242,699 (GRCm39) |
T1147A |
probably benign |
Het |
Epg5 |
T |
A |
18: 78,064,066 (GRCm39) |
Y2048N |
probably damaging |
Het |
Foxred1 |
A |
G |
9: 35,121,492 (GRCm39) |
|
probably benign |
Het |
Gpaa1 |
T |
C |
15: 76,216,471 (GRCm39) |
|
probably benign |
Het |
Gria4 |
A |
C |
9: 4,432,832 (GRCm39) |
L784V |
probably damaging |
Het |
Homer3 |
A |
G |
8: 70,738,956 (GRCm39) |
Y105C |
probably benign |
Het |
Hpgd |
T |
C |
8: 56,772,106 (GRCm39) |
S193P |
probably benign |
Het |
Irf1 |
T |
A |
11: 53,666,762 (GRCm39) |
W247R |
probably benign |
Het |
Lpgat1 |
A |
G |
1: 191,508,494 (GRCm39) |
Q344R |
possibly damaging |
Het |
Luzp1 |
T |
C |
4: 136,267,993 (GRCm39) |
V72A |
probably damaging |
Het |
Malrd1 |
G |
A |
2: 15,531,464 (GRCm39) |
V8M |
probably benign |
Het |
Msmo1 |
T |
C |
8: 65,172,144 (GRCm39) |
H253R |
probably damaging |
Het |
Nom1 |
A |
G |
5: 29,640,124 (GRCm39) |
K150R |
possibly damaging |
Het |
Onecut1 |
A |
G |
9: 74,770,042 (GRCm39) |
E155G |
probably benign |
Het |
Or12k7 |
A |
G |
2: 36,959,001 (GRCm39) |
H228R |
probably benign |
Het |
Or14c46 |
T |
A |
7: 85,918,728 (GRCm39) |
M90L |
probably benign |
Het |
Or5p59 |
T |
C |
7: 107,703,005 (GRCm39) |
V163A |
possibly damaging |
Het |
Osbpl10 |
G |
A |
9: 114,890,944 (GRCm39) |
V111M |
probably damaging |
Het |
Pcdhgb6 |
T |
C |
18: 37,877,457 (GRCm39) |
S722P |
probably benign |
Het |
Plin4 |
T |
A |
17: 56,414,064 (GRCm39) |
D187V |
probably damaging |
Het |
Pmf1 |
T |
C |
3: 88,303,294 (GRCm39) |
E89G |
possibly damaging |
Het |
Polr1d |
A |
T |
5: 147,014,408 (GRCm39) |
|
probably benign |
Het |
Ppp1r9a |
T |
C |
6: 5,158,200 (GRCm39) |
Y1006H |
probably damaging |
Het |
Ppp2r5c |
A |
G |
12: 110,537,134 (GRCm39) |
K420E |
probably benign |
Het |
Prdx1 |
T |
C |
4: 116,551,006 (GRCm39) |
L159P |
probably damaging |
Het |
Psmd6 |
G |
T |
14: 14,119,990 (GRCm38) |
D39E |
probably benign |
Het |
Rffl |
T |
C |
11: 82,709,244 (GRCm39) |
K60E |
probably damaging |
Het |
Rspo2 |
A |
T |
15: 42,939,283 (GRCm39) |
L169Q |
probably damaging |
Het |
Sbf1 |
T |
A |
15: 89,172,837 (GRCm39) |
D1892V |
probably damaging |
Het |
Sbno2 |
G |
A |
10: 79,902,424 (GRCm39) |
S475F |
possibly damaging |
Het |
Serpina3i |
T |
A |
12: 104,231,474 (GRCm39) |
V37E |
probably benign |
Het |
Siglecf |
G |
A |
7: 43,001,137 (GRCm39) |
C35Y |
probably damaging |
Het |
Slc22a27 |
G |
T |
19: 7,903,767 (GRCm39) |
D123E |
probably damaging |
Het |
Smim23 |
T |
A |
11: 32,770,592 (GRCm39) |
K105* |
probably null |
Het |
Soat1 |
C |
T |
1: 156,265,318 (GRCm39) |
S348N |
probably benign |
Het |
Sp2 |
C |
T |
11: 96,851,811 (GRCm39) |
|
probably benign |
Het |
St14 |
T |
A |
9: 31,002,803 (GRCm39) |
H700L |
probably damaging |
Het |
St3gal1 |
T |
A |
15: 66,985,634 (GRCm39) |
K7* |
probably null |
Het |
Tgm1 |
T |
C |
14: 55,943,011 (GRCm39) |
K610E |
probably benign |
Het |
Tob1 |
T |
A |
11: 94,104,583 (GRCm39) |
Y40N |
probably damaging |
Het |
Tob1 |
T |
A |
11: 94,104,585 (GRCm39) |
Y40* |
probably null |
Het |
Trpc4ap |
A |
G |
2: 155,477,130 (GRCm39) |
|
probably benign |
Het |
Ttc9 |
C |
T |
12: 81,678,450 (GRCm39) |
P91L |
probably benign |
Het |
Zbtb18 |
T |
C |
1: 177,275,446 (GRCm39) |
S269P |
probably damaging |
Het |
Zfp703 |
C |
T |
8: 27,469,233 (GRCm39) |
P299L |
probably damaging |
Het |
Zfyve16 |
A |
T |
13: 92,650,410 (GRCm39) |
V858E |
probably 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 |
|
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 |
|
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'- GTCTGTCTTAGGAATATCCCTGAC -3'
(R):5'- TCAATAGGCATTTTGAGGGGC -3'
Sequencing Primer
(F):5'- GTCTTAGGAATATCCCTGACAATTC -3'
(R):5'- TTTATAGCTTAGGCTGCTG -3'
|
Posted On |
2016-12-20 |