Incidental Mutation 'R5240:Fchsd1'
| ID |
400781 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fchsd1
|
| Ensembl Gene |
ENSMUSG00000038524 |
| Gene Name |
FCH and double SH3 domains 1 |
| Synonyms |
A030002D08Rik |
| MMRRC Submission |
042811-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.124)
|
| Stock # |
R5240 (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: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.1%
|
| Validation Efficiency |
100% (69/69) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2fm2 |
A |
C |
3: 59,659,449 (GRCm39) |
T301P |
probably damaging |
Het |
| Cdc42bpg |
T |
G |
19: 6,365,929 (GRCm39) |
L786R |
probably damaging |
Het |
| Cfap73 |
C |
T |
5: 120,767,772 (GRCm39) |
V260I |
probably damaging |
Het |
| Chchd10 |
A |
T |
10: 75,773,283 (GRCm39) |
N131I |
probably damaging |
Het |
| Chn2 |
T |
C |
6: 54,197,680 (GRCm39) |
V190A |
probably benign |
Het |
| Clec2l |
C |
T |
6: 38,650,387 (GRCm39) |
T64I |
probably damaging |
Het |
| Cpeb3 |
T |
A |
19: 37,151,915 (GRCm39) |
T154S |
probably damaging |
Het |
| D130043K22Rik |
A |
G |
13: 25,061,960 (GRCm39) |
E643G |
probably damaging |
Het |
| Ddx31 |
A |
G |
2: 28,736,042 (GRCm39) |
M127V |
probably benign |
Het |
| Dennd1b |
A |
G |
1: 138,990,615 (GRCm39) |
Y193C |
probably damaging |
Het |
| Dgke |
T |
A |
11: 88,941,511 (GRCm39) |
D288V |
probably damaging |
Het |
| Dst |
T |
A |
1: 34,247,639 (GRCm39) |
L1683* |
probably null |
Het |
| Dusp29 |
G |
A |
14: 21,727,091 (GRCm39) |
R186W |
probably benign |
Het |
| E130116L18Rik |
G |
T |
5: 25,428,018 (GRCm39) |
|
probably benign |
Het |
| Eif2b5 |
G |
A |
16: 20,320,148 (GRCm39) |
V115I |
possibly damaging |
Het |
| Fgfr3 |
A |
T |
5: 33,887,382 (GRCm39) |
T234S |
probably damaging |
Het |
| Gipc2 |
A |
T |
3: 151,808,299 (GRCm39) |
D251E |
possibly damaging |
Het |
| Gm11787 |
A |
C |
4: 3,511,810 (GRCm39) |
|
noncoding transcript |
Het |
| Haus6 |
A |
G |
4: 86,501,415 (GRCm39) |
Y819H |
possibly damaging |
Het |
| Homez |
G |
A |
14: 55,095,531 (GRCm39) |
A59V |
probably damaging |
Het |
| Iffo1 |
T |
C |
6: 125,129,423 (GRCm39) |
V363A |
probably benign |
Het |
| Ifit2 |
T |
A |
19: 34,551,796 (GRCm39) |
D445E |
probably benign |
Het |
| Ipo9 |
A |
C |
1: 135,317,344 (GRCm39) |
|
probably benign |
Het |
| Kcnv1 |
C |
T |
15: 44,976,640 (GRCm39) |
G216R |
probably damaging |
Het |
| Kdm6b |
A |
C |
11: 69,292,730 (GRCm39) |
|
probably benign |
Het |
| Mplkip |
T |
C |
13: 17,870,304 (GRCm39) |
S79P |
probably damaging |
Het |
| Nae1 |
T |
C |
8: 105,249,776 (GRCm39) |
|
probably benign |
Het |
| Nfe2l2 |
A |
T |
2: 75,506,353 (GRCm39) |
N582K |
possibly damaging |
Het |
| Nsmce4a |
G |
A |
7: 130,138,754 (GRCm39) |
R297C |
probably damaging |
Het |
| Or1e1f |
T |
C |
11: 73,855,632 (GRCm39) |
L66P |
probably damaging |
Het |
| Or3a1d |
T |
A |
11: 74,238,068 (GRCm39) |
D114V |
probably damaging |
Het |
| Or5p70 |
A |
T |
7: 107,994,909 (GRCm39) |
D194V |
probably damaging |
Het |
| Osbp |
T |
A |
19: 11,955,654 (GRCm39) |
F357I |
probably damaging |
Het |
| Pcdhb4 |
A |
G |
18: 37,442,979 (GRCm39) |
D763G |
possibly damaging |
Het |
| Pcdhgb2 |
A |
C |
18: 37,824,103 (GRCm39) |
I365L |
possibly damaging |
Het |
| Pde6g |
A |
G |
11: 120,338,912 (GRCm39) |
|
probably benign |
Het |
| Pigo |
C |
A |
4: 43,020,675 (GRCm39) |
V756L |
possibly damaging |
Het |
| Pkhd1 |
G |
T |
1: 20,345,865 (GRCm39) |
T2721K |
probably benign |
Het |
| Pls1 |
A |
T |
9: 95,658,675 (GRCm39) |
|
probably null |
Het |
| Prim2 |
A |
G |
1: 33,519,397 (GRCm39) |
|
probably benign |
Het |
| Prkd2 |
T |
A |
7: 16,589,711 (GRCm39) |
I471N |
probably benign |
Het |
| Prrc2b |
C |
T |
2: 32,096,408 (GRCm39) |
T593I |
probably benign |
Het |
| Ptch2 |
C |
A |
4: 116,963,335 (GRCm39) |
|
probably benign |
Het |
| Pth |
A |
T |
7: 112,985,051 (GRCm39) |
D107E |
probably damaging |
Het |
| Pycr2 |
A |
C |
1: 180,735,188 (GRCm39) |
Q315P |
probably benign |
Het |
| Rbpj |
A |
T |
5: 53,806,782 (GRCm39) |
Y209F |
probably damaging |
Het |
| Ripk4 |
C |
A |
16: 97,544,967 (GRCm39) |
R560L |
probably damaging |
Het |
| Sdr42e1 |
T |
C |
8: 118,390,021 (GRCm39) |
R207G |
probably benign |
Het |
| Sipa1l1 |
A |
G |
12: 82,388,362 (GRCm39) |
Y196C |
possibly damaging |
Het |
| Smarcc2 |
T |
C |
10: 128,316,875 (GRCm39) |
|
probably null |
Het |
| Stom |
T |
A |
2: 35,226,889 (GRCm39) |
I15F |
probably benign |
Het |
| Sugp2 |
G |
T |
8: 70,695,925 (GRCm39) |
L299F |
probably benign |
Het |
| Tbrg4 |
A |
T |
11: 6,567,516 (GRCm39) |
|
probably null |
Het |
| Tkt |
G |
T |
14: 30,287,635 (GRCm39) |
G210C |
probably damaging |
Het |
| Tmem163 |
G |
A |
1: 127,419,289 (GRCm39) |
|
probably benign |
Het |
| Trip12 |
A |
G |
1: 84,771,854 (GRCm39) |
I98T |
probably benign |
Het |
| Unc5b |
A |
G |
10: 60,610,419 (GRCm39) |
I466T |
probably damaging |
Het |
| Unc79 |
T |
A |
12: 103,037,010 (GRCm39) |
F599L |
probably damaging |
Het |
| Vav1 |
G |
A |
17: 57,604,122 (GRCm39) |
E151K |
probably damaging |
Het |
| Vcan |
T |
G |
13: 89,840,651 (GRCm39) |
D1631A |
probably benign |
Het |
| Vmn2r4 |
A |
C |
3: 64,314,358 (GRCm39) |
S208A |
possibly damaging |
Het |
| Zfp619 |
A |
G |
7: 39,186,642 (GRCm39) |
T891A |
possibly damaging |
Het |
| Zfp672 |
A |
G |
11: 58,220,527 (GRCm39) |
|
probably benign |
Het |
| Znhit1 |
T |
A |
5: 137,011,235 (GRCm39) |
|
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 |
|
|
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 |
|
|
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'- CAGAGTCTGTCTTAGGAATATCCC -3'
(R):5'- ATAGGCATTTTGAGGGGCAG -3'
Sequencing Primer
(F):5'- GTCTTAGGAATATCCCTGACAATTC -3'
(R):5'- TTTATAGCTTAGGCTGCTG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation