Incidental Mutation 'R5958:Fchsd1'
| ID |
471318 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fchsd1
|
| Ensembl Gene |
ENSMUSG00000038524 |
| Gene Name |
FCH and double SH3 domains 1 |
| Synonyms |
A030002D08Rik |
| MMRRC Submission |
044145-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.124)
|
| Stock # |
R5958 (G1)
|
| Quality Score |
223 |
|
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: 99.6%
- 10x: 98.1%
- 20x: 94.0%
|
| Validation Efficiency |
95% (75/79) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim1 |
T |
C |
19: 57,030,367 (GRCm39) |
D616G |
probably damaging |
Het |
| Adam30 |
A |
G |
3: 98,069,280 (GRCm39) |
N243S |
probably damaging |
Het |
| Adck1 |
A |
G |
12: 88,425,822 (GRCm39) |
I417V |
probably benign |
Het |
| Adcy4 |
T |
C |
14: 56,016,556 (GRCm39) |
|
probably null |
Het |
| Ahctf1 |
A |
G |
1: 179,574,107 (GRCm39) |
|
probably benign |
Het |
| Ap1s3 |
G |
T |
1: 79,591,960 (GRCm39) |
T130K |
probably benign |
Het |
| Apold1 |
C |
T |
6: 134,960,686 (GRCm39) |
R47C |
probably damaging |
Het |
| Atp13a5 |
T |
C |
16: 29,157,860 (GRCm39) |
K197E |
probably damaging |
Het |
| Camk2d |
T |
G |
3: 126,573,514 (GRCm39) |
|
probably benign |
Het |
| Ccin |
A |
G |
4: 43,983,854 (GRCm39) |
D87G |
probably damaging |
Het |
| Cdan1 |
T |
C |
2: 120,554,383 (GRCm39) |
T889A |
possibly damaging |
Het |
| Cel |
T |
A |
2: 28,450,957 (GRCm39) |
Y102F |
probably damaging |
Het |
| Cma1 |
A |
C |
14: 56,179,113 (GRCm39) |
*248E |
probably null |
Het |
| Cnbd1 |
T |
C |
4: 18,862,056 (GRCm39) |
N378S |
probably benign |
Het |
| Col18a1 |
T |
A |
10: 76,932,231 (GRCm39) |
Y533F |
probably benign |
Het |
| Cpb2 |
T |
C |
14: 75,520,827 (GRCm39) |
I414T |
probably damaging |
Het |
| Dagla |
T |
C |
19: 10,225,788 (GRCm39) |
Y792C |
probably damaging |
Het |
| Dlgap5 |
T |
A |
14: 47,651,211 (GRCm39) |
E107D |
probably damaging |
Het |
| Dmtf1 |
T |
A |
5: 9,172,415 (GRCm39) |
|
probably benign |
Het |
| Dst |
A |
G |
1: 34,225,131 (GRCm39) |
K1682R |
probably damaging |
Het |
| Epyc |
A |
T |
10: 97,485,704 (GRCm39) |
H48L |
probably benign |
Het |
| Fam135b |
A |
G |
15: 71,334,744 (GRCm39) |
S817P |
|
Het |
| Foxk1 |
T |
C |
5: 142,442,429 (GRCm39) |
V693A |
probably benign |
Het |
| Fuom |
A |
T |
7: 139,679,811 (GRCm39) |
F122I |
probably damaging |
Het |
| Glg1 |
G |
T |
8: 111,985,736 (GRCm39) |
H31Q |
probably benign |
Het |
| Gm13199 |
C |
T |
2: 5,867,065 (GRCm39) |
|
probably benign |
Het |
| Hdac9 |
G |
T |
12: 34,423,882 (GRCm39) |
Q595K |
probably damaging |
Het |
| Homez |
C |
T |
14: 55,094,298 (GRCm39) |
R119Q |
probably benign |
Het |
| Ifit3b |
A |
G |
19: 34,589,142 (GRCm39) |
H106R |
probably benign |
Het |
| Ift57 |
C |
T |
16: 49,531,471 (GRCm39) |
|
probably benign |
Het |
| Itk |
A |
T |
11: 46,235,682 (GRCm39) |
|
probably benign |
Het |
| Katnip |
A |
G |
7: 125,412,807 (GRCm39) |
K358E |
probably benign |
Het |
| Kif20a |
G |
A |
18: 34,765,468 (GRCm39) |
A822T |
probably benign |
Het |
| Klhdc3 |
A |
T |
17: 46,986,028 (GRCm39) |
V378D |
probably benign |
Het |
| Klhl14 |
A |
G |
18: 21,698,592 (GRCm39) |
I407T |
probably damaging |
Het |
| Meioc |
A |
T |
11: 102,565,979 (GRCm39) |
T476S |
probably benign |
Het |
| Olfm3 |
G |
A |
3: 114,915,955 (GRCm39) |
V276I |
probably damaging |
Het |
| Or5b24 |
T |
C |
19: 12,912,411 (GRCm39) |
F103S |
probably damaging |
Het |
| Pcm1 |
T |
C |
8: 41,782,016 (GRCm39) |
L1972P |
probably damaging |
Het |
| Pcsk6 |
A |
G |
7: 65,693,359 (GRCm39) |
E3G |
probably damaging |
Het |
| Pctp |
A |
G |
11: 89,876,945 (GRCm39) |
S185P |
probably benign |
Het |
| Pik3c2a |
A |
G |
7: 115,961,799 (GRCm39) |
L1010S |
probably damaging |
Het |
| Pitpnm3 |
G |
T |
11: 72,003,193 (GRCm39) |
|
probably null |
Het |
| Prrc2b |
A |
G |
2: 32,102,092 (GRCm39) |
M722V |
possibly damaging |
Het |
| Rad18 |
T |
C |
6: 112,673,603 (GRCm39) |
|
probably benign |
Het |
| Senp6 |
T |
C |
9: 80,049,576 (GRCm39) |
S1036P |
probably damaging |
Het |
| Slc22a22 |
C |
T |
15: 57,126,932 (GRCm39) |
A46T |
possibly damaging |
Het |
| Sox15 |
C |
T |
11: 69,546,556 (GRCm39) |
R120C |
probably damaging |
Het |
| Spag6l |
C |
A |
16: 16,580,885 (GRCm39) |
|
probably null |
Het |
| Strc |
T |
C |
2: 121,207,403 (GRCm39) |
H656R |
possibly damaging |
Het |
| Tanc2 |
A |
G |
11: 105,731,451 (GRCm39) |
D409G |
probably benign |
Het |
| Thap11 |
A |
G |
8: 106,582,696 (GRCm39) |
H235R |
probably damaging |
Het |
| Thsd7a |
T |
A |
6: 12,337,261 (GRCm39) |
Y1252F |
probably benign |
Het |
| Tlr11 |
T |
G |
14: 50,598,234 (GRCm39) |
N73K |
probably damaging |
Het |
| Ttll10 |
T |
C |
4: 156,120,523 (GRCm39) |
|
probably null |
Het |
| Ubr4 |
A |
T |
4: 139,182,949 (GRCm39) |
N445I |
probably damaging |
Het |
| Ugt1a6a |
C |
T |
1: 88,143,510 (GRCm39) |
|
probably benign |
Het |
| Urb2 |
T |
C |
8: 124,756,398 (GRCm39) |
F702L |
probably benign |
Het |
| Utp14b |
A |
T |
1: 78,642,659 (GRCm39) |
K186* |
probably null |
Het |
| Utp14b |
A |
T |
1: 78,642,660 (GRCm39) |
K186M |
probably damaging |
Het |
| Vmn2r16 |
T |
A |
5: 109,510,153 (GRCm39) |
M512K |
possibly damaging |
Het |
| Vmn2r27 |
T |
A |
6: 124,208,686 (GRCm39) |
M20L |
probably benign |
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 |
|
|
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 |
|
|
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'- GAGTCTGTCTTAGGAATATCCCTG -3'
(R):5'- CAATAGGCATTTTGAGGGGCAG -3'
Sequencing Primer
(F):5'- GTCTTAGGAATATCCCTGACAATTC -3'
(R):5'- TTTATAGCTTAGGCTGCTG -3'
|
| Posted On |
2017-03-31 |
Incidental Mutation