Incidental Mutation 'R3820:Fchsd1'
| ID |
274886 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fchsd1
|
| Ensembl Gene |
ENSMUSG00000038524 |
| Gene Name |
FCH and double SH3 domains 1 |
| Synonyms |
A030002D08Rik |
| MMRRC Submission |
040882-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.124)
|
| Stock # |
R3820 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
38090484-38102827 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 38102510 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129825
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042944]
[ENSMUST00000043437]
[ENSMUST00000163131]
[ENSMUST00000164222]
[ENSMUST00000166148]
|
| AlphaFold |
Q6PFY1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042944
|
| SMART Domains |
Protein: ENSMUSP00000035662
Gene: ENSMUSG00000024451
| Domain | Start | End | E-Value | Type |
|---|
|
SAM
|
1 |
68 |
1.5e-7 |
SMART |
|
low complexity region
|
81 |
98 |
N/A |
INTRINSIC |
|
low complexity region
|
134 |
142 |
N/A |
INTRINSIC |
|
PH
|
283 |
376 |
3.4e-16 |
SMART |
|
PH
|
390 |
480 |
1.61e-8 |
SMART |
|
ArfGap
|
484 |
606 |
1.44e-25 |
SMART |
|
low complexity region
|
642 |
661 |
N/A |
INTRINSIC |
|
PH
|
671 |
785 |
2.86e1 |
SMART |
|
PH
|
795 |
901 |
6.87e-3 |
SMART |
|
RhoGAP
|
913 |
1089 |
2.11e-47 |
SMART |
|
Pfam:RA
|
1113 |
1206 |
6.2e-16 |
PFAM |
|
PH
|
1220 |
1323 |
3.46e-8 |
SMART |
|
low complexity region
|
1388 |
1407 |
N/A |
INTRINSIC |
|
low complexity region
|
1457 |
1469 |
N/A |
INTRINSIC |
|
low complexity region
|
1475 |
1486 |
N/A |
INTRINSIC |
|
low complexity region
|
1494 |
1529 |
N/A |
INTRINSIC |
|
| 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: ENSMUST00000166973
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168136
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171253
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168816
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.8%
- 20x: 96.4%
|
| Validation Efficiency |
96% (47/49) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921524L21Rik |
G |
T |
18: 6,630,166 (GRCm39) |
|
probably null |
Het |
| Aarsd1 |
T |
A |
11: 101,301,971 (GRCm39) |
I332F |
probably damaging |
Het |
| Abcd2 |
C |
T |
15: 91,058,908 (GRCm39) |
G512D |
probably damaging |
Het |
| Adam6a |
T |
C |
12: 113,507,798 (GRCm39) |
I57T |
probably benign |
Het |
| Adam6b |
C |
T |
12: 113,453,984 (GRCm39) |
T267I |
probably benign |
Het |
| Ap1g2 |
G |
A |
14: 55,338,030 (GRCm39) |
|
probably benign |
Het |
| Arhgap22 |
G |
A |
14: 33,089,378 (GRCm39) |
E455K |
probably benign |
Het |
| Bltp1 |
G |
A |
3: 37,094,583 (GRCm39) |
V917I |
probably damaging |
Het |
| Ccdc93 |
T |
C |
1: 121,389,969 (GRCm39) |
I253T |
probably damaging |
Het |
| Cd44 |
T |
C |
2: 102,731,738 (GRCm39) |
|
probably null |
Het |
| Cnot6 |
A |
T |
11: 49,579,999 (GRCm39) |
S98T |
probably benign |
Het |
| Dnah9 |
C |
A |
11: 65,741,829 (GRCm39) |
|
probably null |
Het |
| Edar |
T |
C |
10: 58,457,185 (GRCm39) |
Y131C |
probably damaging |
Het |
| Eif5 |
A |
T |
12: 111,506,618 (GRCm39) |
R43* |
probably null |
Het |
| Eml4 |
C |
A |
17: 83,780,494 (GRCm39) |
T667K |
probably damaging |
Het |
| Flt1 |
A |
G |
5: 147,636,827 (GRCm39) |
|
probably benign |
Het |
| Frem2 |
T |
A |
3: 53,424,270 (GRCm39) |
I3056F |
probably damaging |
Het |
| Hivep1 |
A |
T |
13: 42,337,787 (GRCm39) |
H2622L |
possibly damaging |
Het |
| Ido2 |
T |
C |
8: 25,023,771 (GRCm39) |
I356V |
probably benign |
Het |
| Insyn2b |
T |
C |
11: 34,353,007 (GRCm39) |
S350P |
probably benign |
Het |
| Itgb3 |
C |
A |
11: 104,524,438 (GRCm39) |
Y191* |
probably null |
Het |
| Kcnma1 |
T |
C |
14: 23,350,006 (GRCm39) |
T1178A |
possibly damaging |
Het |
| Kcnt1 |
A |
G |
2: 25,790,904 (GRCm39) |
H486R |
probably damaging |
Het |
| Kif21a |
T |
C |
15: 90,852,277 (GRCm39) |
N950S |
probably benign |
Het |
| Lama1 |
C |
A |
17: 68,086,041 (GRCm39) |
|
probably null |
Het |
| Lrrc4b |
T |
A |
7: 44,111,982 (GRCm39) |
V618E |
probably damaging |
Het |
| Micall2 |
C |
T |
5: 139,701,611 (GRCm39) |
G461D |
possibly damaging |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Ncoa6 |
T |
A |
2: 155,248,858 (GRCm39) |
N1482I |
probably damaging |
Het |
| Pcdhga10 |
A |
G |
18: 37,880,995 (GRCm39) |
N252S |
probably damaging |
Het |
| Pcdhgb7 |
C |
A |
18: 37,885,286 (GRCm39) |
T152K |
possibly damaging |
Het |
| Pds5a |
A |
G |
5: 65,811,419 (GRCm39) |
V338A |
possibly damaging |
Het |
| Pds5b |
T |
C |
5: 150,659,802 (GRCm39) |
V255A |
possibly damaging |
Het |
| Prkar2a |
T |
G |
9: 108,624,155 (GRCm39) |
F391V |
probably damaging |
Het |
| Prr14l |
A |
G |
5: 32,986,328 (GRCm39) |
C1056R |
probably damaging |
Het |
| Ptpn23 |
A |
G |
9: 110,218,862 (GRCm39) |
|
probably benign |
Het |
| Serpinb5 |
T |
A |
1: 106,802,802 (GRCm39) |
Y112* |
probably null |
Het |
| Slc17a4 |
C |
T |
13: 24,085,752 (GRCm39) |
R387H |
probably benign |
Het |
| Tdrd5 |
A |
G |
1: 156,113,053 (GRCm39) |
V409A |
probably benign |
Het |
| Tenm2 |
A |
T |
11: 35,915,147 (GRCm39) |
I2129N |
probably damaging |
Het |
| Tmem8b |
C |
A |
4: 43,689,745 (GRCm39) |
H800N |
probably damaging |
Het |
| Trpm3 |
A |
T |
19: 22,964,813 (GRCm39) |
N1436I |
probably benign |
Het |
| Unc13c |
A |
T |
9: 73,838,240 (GRCm39) |
S870R |
probably benign |
Het |
| Vmn2r16 |
C |
T |
5: 109,510,143 (GRCm39) |
P509S |
probably benign |
Het |
| Vmn2r60 |
A |
T |
7: 41,785,125 (GRCm39) |
E112D |
probably damaging |
Het |
| Xpnpep1 |
G |
A |
19: 52,992,250 (GRCm39) |
|
probably benign |
Het |
| Zfp729a |
A |
T |
13: 67,769,438 (GRCm39) |
C264S |
probably damaging |
Het |
| Zmynd8 |
T |
A |
2: 165,657,381 (GRCm39) |
K521* |
probably null |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGAGGAAAGAGTGGCGCTC -3'
(R):5'- CGAAAAGTGAGATTTGCCCAG -3'
Sequencing Primer
(F):5'- CTCGCTCCTGTGAAGATGGAGTAC -3'
(R):5'- CCAGAAAAAGGGATTTCTTGGAGGTC -3'
|
| Posted On |
2015-04-02 |
Incidental Mutation