Incidental Mutation 'R5969:Fchsd1'
ID |
470776 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fchsd1
|
Ensembl Gene |
ENSMUSG00000038524 |
Gene Name |
FCH and double SH3 domains 1 |
Synonyms |
A030002D08Rik |
MMRRC Submission |
044152-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.124)
|
Stock # |
R5969 (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: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.2%
|
Validation Efficiency |
99% (67/68) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aaas |
A |
C |
15: 102,258,999 (GRCm39) |
Y19D |
probably damaging |
Het |
Abca13 |
T |
A |
11: 9,242,214 (GRCm39) |
L1359* |
probably null |
Het |
Ahi1 |
A |
T |
10: 20,860,292 (GRCm39) |
D671V |
probably damaging |
Het |
Ahnak |
T |
C |
19: 8,993,949 (GRCm39) |
S5078P |
probably damaging |
Het |
Ankhd1 |
A |
T |
18: 36,733,887 (GRCm39) |
T584S |
probably damaging |
Het |
Apba2 |
T |
A |
7: 64,394,195 (GRCm39) |
L568* |
probably null |
Het |
Cenpn |
C |
A |
8: 117,667,276 (GRCm39) |
L300I |
probably damaging |
Het |
Cmya5 |
A |
T |
13: 93,226,052 (GRCm39) |
L3012Q |
possibly damaging |
Het |
Cnnm1 |
T |
C |
19: 43,479,911 (GRCm39) |
S819P |
probably damaging |
Het |
Cpa6 |
A |
T |
1: 10,559,108 (GRCm39) |
S87T |
probably benign |
Het |
Crybg2 |
T |
A |
4: 133,803,003 (GRCm39) |
|
probably null |
Het |
Csmd1 |
T |
A |
8: 16,121,367 (GRCm39) |
T1777S |
probably benign |
Het |
Csmd3 |
G |
T |
15: 47,811,386 (GRCm39) |
P1235Q |
probably damaging |
Het |
Cxcr4 |
T |
A |
1: 128,517,584 (GRCm39) |
N24Y |
probably benign |
Het |
D630003M21Rik |
G |
T |
2: 158,059,628 (GRCm39) |
H91N |
probably damaging |
Het |
Ece1 |
T |
C |
4: 137,689,051 (GRCm39) |
|
probably null |
Het |
Edc3 |
T |
C |
9: 57,620,711 (GRCm39) |
S11P |
probably damaging |
Het |
Eif1ad14 |
T |
C |
12: 87,886,248 (GRCm39) |
D127G |
unknown |
Het |
Exoc3 |
G |
A |
13: 74,320,305 (GRCm39) |
Q719* |
probably null |
Het |
Fam13a |
A |
G |
6: 58,942,183 (GRCm39) |
M203T |
probably damaging |
Het |
Fhip2a |
C |
T |
19: 57,372,555 (GRCm39) |
R602* |
probably null |
Het |
Fxyd2 |
T |
A |
9: 45,319,628 (GRCm39) |
I30N |
probably damaging |
Het |
Gapt |
A |
G |
13: 110,490,480 (GRCm39) |
V61A |
probably benign |
Het |
Glb1l2 |
C |
T |
9: 26,692,038 (GRCm39) |
A74T |
probably damaging |
Het |
Gpr35 |
T |
C |
1: 92,910,942 (GRCm39) |
V2A |
probably damaging |
Het |
Gtf3c1 |
A |
G |
7: 125,244,848 (GRCm39) |
S1729P |
possibly damaging |
Het |
Heatr5a |
T |
C |
12: 52,005,823 (GRCm39) |
T51A |
probably benign |
Het |
Kat6b |
G |
A |
14: 21,720,860 (GRCm39) |
M1737I |
probably damaging |
Het |
Kif20a |
G |
A |
18: 34,765,468 (GRCm39) |
A822T |
probably benign |
Het |
Klk10 |
A |
G |
7: 43,434,409 (GRCm39) |
Y267C |
probably damaging |
Het |
Lgmn |
T |
C |
12: 102,372,086 (GRCm39) |
Y98C |
probably damaging |
Het |
Lyst |
A |
C |
13: 13,862,398 (GRCm39) |
|
probably null |
Het |
Man2a1 |
A |
G |
17: 64,932,375 (GRCm39) |
K154R |
probably benign |
Het |
Mfng |
A |
T |
15: 78,648,582 (GRCm39) |
V165D |
possibly damaging |
Het |
Mto1 |
A |
G |
9: 78,360,187 (GRCm39) |
E225G |
probably damaging |
Het |
Notch3 |
C |
A |
17: 32,372,858 (GRCm39) |
C571F |
probably damaging |
Het |
Nup205 |
C |
T |
6: 35,154,513 (GRCm39) |
|
probably benign |
Het |
Or51b6 |
T |
A |
7: 103,556,117 (GRCm39) |
I157N |
probably damaging |
Het |
P2ry14 |
T |
A |
3: 59,022,579 (GRCm39) |
I303F |
probably damaging |
Het |
Pcnx3 |
T |
C |
19: 5,735,563 (GRCm39) |
D421G |
probably damaging |
Het |
Pdlim4 |
T |
C |
11: 53,954,482 (GRCm39) |
H75R |
possibly damaging |
Het |
Phf21a |
A |
T |
2: 92,051,956 (GRCm39) |
H17L |
probably damaging |
Het |
Ppid |
T |
A |
3: 79,505,024 (GRCm39) |
N122K |
probably damaging |
Het |
Ppp4r3a |
T |
C |
12: 101,009,838 (GRCm39) |
I613V |
probably benign |
Het |
Prcp |
C |
T |
7: 92,566,974 (GRCm39) |
P229S |
probably benign |
Het |
Ralgds |
T |
C |
2: 28,432,426 (GRCm39) |
V85A |
probably damaging |
Het |
Rgs22 |
G |
A |
15: 36,015,782 (GRCm39) |
T1034I |
probably benign |
Het |
Slc4a3 |
T |
C |
1: 75,526,623 (GRCm39) |
V48A |
probably damaging |
Het |
Snx16 |
A |
T |
3: 10,503,217 (GRCm39) |
M10K |
possibly damaging |
Het |
Svep1 |
G |
A |
4: 58,070,977 (GRCm39) |
Q2270* |
probably null |
Het |
Tmem185b |
T |
G |
1: 119,455,193 (GRCm39) |
I318S |
probably benign |
Het |
Tnik |
C |
T |
3: 28,675,097 (GRCm39) |
R657C |
probably damaging |
Het |
Top3b |
T |
C |
16: 16,701,429 (GRCm39) |
|
probably null |
Het |
Trim40 |
C |
T |
17: 37,193,319 (GRCm39) |
R203H |
probably benign |
Het |
Triobp |
T |
A |
15: 78,851,740 (GRCm39) |
N631K |
probably benign |
Het |
Ubr3 |
T |
G |
2: 69,809,730 (GRCm39) |
Y1233* |
probably null |
Het |
Vgll3 |
A |
G |
16: 65,636,449 (GRCm39) |
D200G |
probably damaging |
Het |
Vmn2r24 |
G |
A |
6: 123,755,981 (GRCm39) |
E18K |
probably benign |
Het |
Zfp141 |
C |
A |
7: 42,138,912 (GRCm39) |
R40L |
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 |
|
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 |
|
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'- GAGTCTGTCTTAGGAATATCCCTGAC -3'
(R):5'- CAATAGGCATTTTGAGGGGCAG -3'
Sequencing Primer
(F):5'- GTCTTAGGAATATCCCTGACAATTC -3'
(R):5'- TTTATAGCTTAGGCTGCTG -3'
|
Posted On |
2017-03-31 |