Incidental Mutation 'R5354:Fchsd1'
| ID |
424012 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fchsd1
|
| Ensembl Gene |
ENSMUSG00000038524 |
| Gene Name |
FCH and double SH3 domains 1 |
| Synonyms |
A030002D08Rik |
| MMRRC Submission |
042933-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.102)
|
| Stock # |
R5354 (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: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
100% (80/80) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A630010A05Rik |
A |
G |
16: 14,436,535 (GRCm39) |
K196R |
probably benign |
Het |
| Ablim1 |
T |
C |
19: 57,119,355 (GRCm39) |
E243G |
probably benign |
Het |
| Acat1 |
T |
A |
9: 53,500,483 (GRCm39) |
E271V |
possibly damaging |
Het |
| Aco1 |
T |
C |
4: 40,180,290 (GRCm39) |
|
probably null |
Het |
| Adam22 |
C |
A |
5: 8,140,182 (GRCm39) |
G202W |
probably damaging |
Het |
| Agbl3 |
T |
A |
6: 34,791,687 (GRCm39) |
H596Q |
probably benign |
Het |
| Anxa7 |
A |
G |
14: 20,514,977 (GRCm39) |
L177P |
possibly damaging |
Het |
| Atp11a |
A |
T |
8: 12,856,753 (GRCm39) |
N48I |
probably damaging |
Het |
| Bcas1 |
T |
A |
2: 170,191,316 (GRCm39) |
N492I |
possibly damaging |
Het |
| Bclaf1 |
A |
G |
10: 20,209,278 (GRCm39) |
Y498C |
probably damaging |
Het |
| Bltp3a |
G |
A |
17: 28,106,489 (GRCm39) |
S1005N |
probably benign |
Het |
| Bod1l |
A |
C |
5: 41,988,880 (GRCm39) |
V409G |
probably damaging |
Het |
| Ccdc170 |
G |
A |
10: 4,484,188 (GRCm39) |
C338Y |
probably benign |
Het |
| Cdc45 |
C |
T |
16: 18,614,647 (GRCm39) |
R205H |
probably damaging |
Het |
| Ckap2 |
A |
C |
8: 22,667,581 (GRCm39) |
N93K |
probably damaging |
Het |
| Clca3a1 |
A |
T |
3: 144,442,766 (GRCm39) |
S759R |
possibly damaging |
Het |
| Coro1c |
A |
T |
5: 113,984,226 (GRCm39) |
I347N |
possibly damaging |
Het |
| Cpox |
A |
G |
16: 58,491,205 (GRCm39) |
T139A |
probably damaging |
Het |
| Cyp4a12b |
C |
A |
4: 115,290,661 (GRCm39) |
|
probably null |
Het |
| Dctn1 |
T |
G |
6: 83,160,108 (GRCm39) |
V116G |
possibly damaging |
Het |
| Dhx38 |
A |
G |
8: 110,282,378 (GRCm39) |
V683A |
probably damaging |
Het |
| Dnah12 |
G |
A |
14: 26,496,299 (GRCm39) |
|
probably null |
Het |
| Dnajb7 |
T |
C |
15: 81,292,208 (GRCm39) |
E43G |
probably damaging |
Het |
| Dsc1 |
A |
T |
18: 20,220,632 (GRCm39) |
V714E |
probably damaging |
Het |
| Dusp29 |
G |
A |
14: 21,727,091 (GRCm39) |
R186W |
probably benign |
Het |
| Egfem1 |
T |
C |
3: 29,136,361 (GRCm39) |
|
probably null |
Het |
| Fmo1 |
T |
C |
1: 162,657,714 (GRCm39) |
T476A |
probably benign |
Het |
| Gm10237 |
T |
C |
16: 35,741,099 (GRCm39) |
|
noncoding transcript |
Het |
| Gm14496 |
A |
G |
2: 181,642,602 (GRCm39) |
S758G |
probably damaging |
Het |
| Gpat2 |
T |
A |
2: 127,270,643 (GRCm39) |
L97Q |
probably damaging |
Het |
| Gpr162 |
T |
C |
6: 124,836,600 (GRCm39) |
D357G |
probably benign |
Het |
| Hax1 |
A |
T |
3: 89,905,262 (GRCm39) |
D34E |
probably damaging |
Het |
| Hmgcr |
C |
T |
13: 96,791,404 (GRCm39) |
V97M |
probably benign |
Het |
| Hsd3b2 |
T |
C |
3: 98,619,631 (GRCm39) |
T105A |
probably benign |
Het |
| Ints1 |
A |
G |
5: 139,752,183 (GRCm39) |
|
probably null |
Het |
| Islr |
T |
C |
9: 58,064,895 (GRCm39) |
E204G |
probably damaging |
Het |
| Lrrc36 |
A |
G |
8: 106,151,996 (GRCm39) |
N60D |
probably damaging |
Het |
| Maf1 |
T |
C |
15: 76,237,330 (GRCm39) |
|
probably benign |
Het |
| Mrgprb4 |
T |
A |
7: 47,848,077 (GRCm39) |
R284W |
probably benign |
Het |
| Myh4 |
A |
T |
11: 67,146,551 (GRCm39) |
N1508I |
possibly damaging |
Het |
| Nufip2 |
A |
G |
11: 77,577,103 (GRCm39) |
H17R |
unknown |
Het |
| Oasl1 |
A |
T |
5: 115,075,055 (GRCm39) |
I372L |
probably damaging |
Het |
| Or5ae1 |
T |
A |
7: 84,565,357 (GRCm39) |
Y123* |
probably null |
Het |
| Or6p1 |
T |
C |
1: 174,258,252 (GRCm39) |
L86P |
probably damaging |
Het |
| Pald1 |
A |
T |
10: 61,184,440 (GRCm39) |
Y226N |
probably damaging |
Het |
| Pcdhb13 |
G |
T |
18: 37,577,844 (GRCm39) |
G741C |
probably damaging |
Het |
| Pcdhga10 |
A |
G |
18: 37,881,259 (GRCm39) |
D340G |
probably damaging |
Het |
| Pclo |
C |
A |
5: 14,728,822 (GRCm39) |
|
probably benign |
Het |
| Pcsk4 |
G |
T |
10: 80,159,523 (GRCm39) |
N416K |
probably damaging |
Het |
| Pde10a |
C |
A |
17: 9,180,812 (GRCm39) |
R398S |
probably damaging |
Het |
| Plin1 |
T |
A |
7: 79,375,469 (GRCm39) |
T227S |
possibly damaging |
Het |
| Pnpt1 |
A |
G |
11: 29,104,166 (GRCm39) |
D542G |
probably damaging |
Het |
| Ppp4r3b |
T |
A |
11: 29,161,646 (GRCm39) |
D673E |
probably benign |
Het |
| Prr18 |
C |
A |
17: 8,559,892 (GRCm39) |
P16Q |
probably damaging |
Het |
| Psmc3 |
T |
A |
2: 90,889,698 (GRCm39) |
Y440N |
probably damaging |
Het |
| Rassf5 |
T |
C |
1: 131,108,385 (GRCm39) |
I232V |
probably benign |
Het |
| Rims1 |
T |
A |
1: 22,577,592 (GRCm39) |
D218V |
probably damaging |
Het |
| Skint10 |
T |
C |
4: 112,568,790 (GRCm39) |
N309S |
possibly damaging |
Het |
| Slc6a1 |
T |
C |
6: 114,279,584 (GRCm39) |
M121T |
possibly damaging |
Het |
| Slit3 |
A |
G |
11: 35,566,740 (GRCm39) |
D1004G |
probably damaging |
Het |
| Snap91 |
C |
T |
9: 86,717,177 (GRCm39) |
V215I |
possibly damaging |
Het |
| Son |
T |
C |
16: 91,452,627 (GRCm39) |
L458S |
probably damaging |
Het |
| St18 |
C |
T |
1: 6,914,395 (GRCm39) |
A782V |
probably damaging |
Het |
| Synpo |
A |
G |
18: 60,735,303 (GRCm39) |
|
probably null |
Het |
| Thbs3 |
A |
G |
3: 89,128,684 (GRCm39) |
D458G |
probably damaging |
Het |
| Tpr |
C |
T |
1: 150,321,675 (GRCm39) |
R3C |
probably damaging |
Het |
| Trp63 |
A |
G |
16: 25,503,105 (GRCm39) |
|
probably null |
Het |
| Vmn1r27 |
C |
A |
6: 58,192,581 (GRCm39) |
R141L |
probably benign |
Het |
| Wnk1 |
T |
C |
6: 119,945,484 (GRCm39) |
I699V |
probably benign |
Het |
| Xkr6 |
A |
G |
14: 64,056,353 (GRCm39) |
D88G |
possibly damaging |
Het |
| Zan |
A |
G |
5: 137,379,050 (GRCm39) |
|
probably benign |
Het |
| Zbtb7b |
T |
C |
3: 89,286,913 (GRCm39) |
|
probably benign |
Het |
| Zfp618 |
A |
T |
4: 62,998,265 (GRCm39) |
D33V |
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 |
|
|
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'- GTCTGTCTTAGGAATATCCCTGAC -3'
(R):5'- CTCAATAGGCATTTTGAGGGGC -3'
Sequencing Primer
(F):5'- GTCTTAGGAATATCCCTGACAATTC -3'
(R):5'- TTTATAGCTTAGGCTGCTG -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation