Incidental Mutation 'IGL00590:Fchsd1'
| ID |
332729 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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: 0.102)
|
| Stock # |
IGL00590
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
38090484-38102827 bp(-) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
C to T
at 38098946 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129825
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043437]
[ENSMUST00000163131]
[ENSMUST00000164222]
[ENSMUST00000166148]
|
| 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: ENSMUST00000163131
|
| SMART Domains |
Protein: ENSMUSP00000133058
Gene: ENSMUSG00000038524
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FCH
|
12 |
107 |
1.6e-18 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164222
|
| SMART Domains |
Protein: ENSMUSP00000128481
Gene: ENSMUSG00000038524
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FCH
|
12 |
56 |
2.5e-11 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166148
|
| SMART Domains |
Protein: ENSMUSP00000129825
Gene: ENSMUSG00000038524
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FCH
|
12 |
93 |
1.6e-17 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166727
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166973
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168136
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168816
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171253
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
T |
G |
7: 120,023,038 (GRCm39) |
F58C |
probably damaging |
Het |
| Adgrf5 |
G |
T |
17: 43,764,038 (GRCm39) |
G1320V |
probably damaging |
Het |
| Akap13 |
A |
G |
7: 75,260,417 (GRCm39) |
K211E |
probably benign |
Het |
| Akap8l |
T |
C |
17: 32,552,071 (GRCm39) |
D402G |
possibly damaging |
Het |
| Akna |
T |
C |
4: 63,290,115 (GRCm39) |
I1198V |
probably benign |
Het |
| Apaf1 |
T |
A |
10: 90,859,650 (GRCm39) |
I832F |
probably damaging |
Het |
| Cbl |
A |
C |
9: 44,112,495 (GRCm39) |
L67V |
probably damaging |
Het |
| Chl1 |
T |
C |
6: 103,670,022 (GRCm39) |
Y471H |
probably benign |
Het |
| Cystm1 |
T |
A |
18: 36,499,728 (GRCm39) |
Y48N |
unknown |
Het |
| Dennd5b |
T |
C |
6: 148,969,806 (GRCm39) |
T216A |
probably benign |
Het |
| Dpep2 |
A |
T |
8: 106,715,453 (GRCm39) |
M356K |
probably damaging |
Het |
| Dtymk |
A |
G |
1: 93,722,446 (GRCm39) |
|
probably null |
Het |
| Fam91a1 |
A |
G |
15: 58,287,565 (GRCm39) |
D4G |
possibly damaging |
Het |
| Fbxl20 |
A |
G |
11: 97,983,955 (GRCm39) |
L306P |
probably damaging |
Het |
| Fndc1 |
G |
A |
17: 7,983,933 (GRCm39) |
T1331I |
unknown |
Het |
| Gpatch8 |
T |
C |
11: 102,371,375 (GRCm39) |
D721G |
unknown |
Het |
| Gsg1 |
A |
T |
6: 135,221,348 (GRCm39) |
I17N |
possibly damaging |
Het |
| Heyl |
A |
G |
4: 123,140,423 (GRCm39) |
*327W |
probably null |
Het |
| Kif13b |
G |
T |
14: 65,016,911 (GRCm39) |
R1359L |
probably damaging |
Het |
| Map3k14 |
C |
T |
11: 103,128,380 (GRCm39) |
G414S |
probably damaging |
Het |
| Meis2 |
C |
T |
2: 115,699,274 (GRCm39) |
A330T |
probably damaging |
Het |
| Mrpl9 |
T |
C |
3: 94,351,003 (GRCm39) |
L61P |
probably damaging |
Het |
| Mrps6 |
A |
G |
16: 91,896,548 (GRCm39) |
N38D |
probably benign |
Het |
| Muc4 |
C |
T |
16: 32,575,465 (GRCm39) |
T1407I |
probably benign |
Het |
| Nup107 |
A |
G |
10: 117,599,708 (GRCm39) |
Y604H |
probably damaging |
Het |
| Pgm2l1 |
T |
C |
7: 99,904,826 (GRCm39) |
|
probably null |
Het |
| Pisd |
T |
C |
5: 32,895,756 (GRCm39) |
I441V |
probably benign |
Het |
| Rb1cc1 |
T |
C |
1: 6,308,520 (GRCm39) |
F52S |
probably damaging |
Het |
| Rnft1 |
T |
A |
11: 86,386,740 (GRCm39) |
W383R |
probably damaging |
Het |
| Tas2r104 |
A |
T |
6: 131,662,530 (GRCm39) |
W60R |
probably damaging |
Het |
| Tlr11 |
A |
G |
14: 50,598,373 (GRCm39) |
T120A |
probably benign |
Het |
| Tmem150b |
T |
G |
7: 4,726,896 (GRCm39) |
I71L |
probably benign |
Het |
| Zfp296 |
A |
G |
7: 19,311,760 (GRCm39) |
D89G |
possibly damaging |
Het |
|
| Other mutations in Fchsd1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
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 |
|
| Posted On |
2015-08-05 |
Incidental Mutation