Incidental Mutation 'R5521:Fchsd1'
ID |
431583 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fchsd1
|
Ensembl Gene |
ENSMUSG00000038524 |
Gene Name |
FCH and double SH3 domains 1 |
Synonyms |
A030002D08Rik |
MMRRC Submission |
043080-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.124)
|
Stock # |
R5521 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
38090484-38102827 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 38099537 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 219
(H219R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000047878
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043437]
[ENSMUST00000163131]
[ENSMUST00000164222]
[ENSMUST00000166148]
|
AlphaFold |
Q6PFY1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000043437
AA Change: H219R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000047878 Gene: ENSMUSG00000038524 AA Change: H219R
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: ENSMUST00000166727
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166973
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168136
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168816
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171253
|
Meta Mutation Damage Score |
0.7056 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 97.5%
- 10x: 94.4%
- 20x: 87.5%
|
Validation Efficiency |
94% (72/77) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcg4 |
A |
G |
9: 44,190,980 (GRCm39) |
|
probably benign |
Het |
Abhd14a |
G |
T |
9: 106,321,033 (GRCm39) |
D107E |
probably damaging |
Het |
Acat1 |
T |
A |
9: 53,494,807 (GRCm39) |
K362* |
probably null |
Het |
Adad2 |
T |
A |
8: 120,339,528 (GRCm39) |
S3R |
probably benign |
Het |
Adcy8 |
C |
A |
15: 64,687,199 (GRCm39) |
R435M |
probably damaging |
Het |
Adgrv1 |
A |
T |
13: 81,567,508 (GRCm39) |
S5222T |
probably benign |
Het |
Ankk1 |
A |
T |
9: 49,331,748 (GRCm39) |
M182K |
probably benign |
Het |
Apba1 |
C |
T |
19: 23,870,957 (GRCm39) |
P263L |
probably damaging |
Het |
Arhgap39 |
G |
A |
15: 76,649,694 (GRCm39) |
S26L |
possibly damaging |
Het |
Ccng1 |
G |
A |
11: 40,643,093 (GRCm39) |
T118I |
possibly damaging |
Het |
Cenpe |
T |
C |
3: 134,974,826 (GRCm39) |
S2329P |
probably damaging |
Het |
Chil4 |
A |
G |
3: 106,111,013 (GRCm39) |
Y294H |
possibly damaging |
Het |
Chst8 |
A |
C |
7: 34,374,670 (GRCm39) |
S390A |
probably benign |
Het |
Dars1 |
T |
C |
1: 128,301,710 (GRCm39) |
D308G |
probably benign |
Het |
Dlec1 |
A |
C |
9: 118,972,469 (GRCm39) |
Q1458P |
possibly damaging |
Het |
Dvl2 |
G |
A |
11: 69,897,233 (GRCm39) |
E312K |
probably damaging |
Het |
Foxd4 |
A |
C |
19: 24,877,007 (GRCm39) |
C398G |
probably damaging |
Het |
Gm10719 |
T |
A |
9: 3,018,970 (GRCm39) |
F72I |
probably damaging |
Het |
Gm5414 |
T |
C |
15: 101,536,422 (GRCm39) |
I68V |
probably benign |
Het |
Gmip |
C |
T |
8: 70,270,049 (GRCm39) |
T684I |
probably damaging |
Het |
Gpr137c |
T |
C |
14: 45,516,151 (GRCm39) |
I295T |
possibly damaging |
Het |
Hivep1 |
T |
A |
13: 42,311,804 (GRCm39) |
M1348K |
probably damaging |
Het |
Igkv6-23 |
T |
C |
6: 70,237,597 (GRCm39) |
D48G |
probably benign |
Het |
Il3 |
G |
A |
11: 54,157,958 (GRCm39) |
T40M |
possibly damaging |
Het |
Ing2 |
T |
C |
8: 48,122,248 (GRCm39) |
E100G |
probably damaging |
Het |
Itpr3 |
C |
A |
17: 27,326,308 (GRCm39) |
H1359Q |
probably benign |
Het |
Lama1 |
T |
A |
17: 68,087,889 (GRCm39) |
Y1502* |
probably null |
Het |
Mamdc2 |
C |
A |
19: 23,288,302 (GRCm39) |
G579W |
probably damaging |
Het |
Mapk6 |
G |
A |
9: 75,300,598 (GRCm39) |
|
probably benign |
Het |
Mapk8ip2 |
C |
T |
15: 89,343,007 (GRCm39) |
R616W |
probably damaging |
Het |
Mc5r |
T |
A |
18: 68,472,748 (GRCm39) |
L369H |
possibly damaging |
Het |
Meis1 |
T |
C |
11: 18,938,260 (GRCm39) |
|
probably benign |
Het |
Mmp8 |
A |
G |
9: 7,560,644 (GRCm39) |
K107R |
probably benign |
Het |
Mn1 |
C |
T |
5: 111,569,635 (GRCm39) |
H1202Y |
possibly damaging |
Het |
Naip2 |
A |
G |
13: 100,291,422 (GRCm39) |
L1172P |
probably damaging |
Het |
Nek9 |
C |
T |
12: 85,374,219 (GRCm39) |
D273N |
probably benign |
Het |
Nlrp4e |
A |
T |
7: 23,021,190 (GRCm39) |
D559V |
probably benign |
Het |
Nlrp4g |
T |
C |
9: 124,350,020 (GRCm38) |
|
noncoding transcript |
Het |
Oit3 |
G |
T |
10: 59,271,736 (GRCm39) |
A207E |
probably benign |
Het |
Or13j1 |
A |
T |
4: 43,705,788 (GRCm39) |
M260K |
possibly damaging |
Het |
Or14a257 |
A |
T |
7: 86,137,839 (GRCm39) |
C307S |
probably benign |
Het |
Or4d2b |
A |
T |
11: 87,780,545 (GRCm39) |
M59K |
probably damaging |
Het |
Or5w16 |
A |
G |
2: 87,577,406 (GRCm39) |
I289V |
probably benign |
Het |
Pde4c |
T |
C |
8: 71,200,031 (GRCm39) |
|
probably null |
Het |
Ppp1r26 |
A |
G |
2: 28,341,438 (GRCm39) |
E356G |
probably benign |
Het |
Pramel13 |
A |
G |
4: 144,122,541 (GRCm39) |
M1T |
probably null |
Het |
Ptges3-ps |
T |
A |
6: 85,821,303 (GRCm39) |
|
noncoding transcript |
Het |
Ptpn13 |
T |
G |
5: 103,649,294 (GRCm39) |
F232L |
probably benign |
Het |
Reps1 |
T |
C |
10: 17,979,982 (GRCm39) |
S114P |
probably damaging |
Het |
Scarf2 |
T |
A |
16: 17,621,466 (GRCm39) |
|
probably null |
Het |
Sdha |
A |
T |
13: 74,498,218 (GRCm39) |
|
probably benign |
Het |
Secisbp2l |
A |
T |
2: 125,594,897 (GRCm39) |
V146D |
possibly damaging |
Het |
Slc26a8 |
T |
A |
17: 28,873,833 (GRCm39) |
T385S |
probably benign |
Het |
Slc4a1 |
G |
A |
11: 102,244,092 (GRCm39) |
T679M |
probably benign |
Het |
Tbc1d14 |
T |
A |
5: 36,677,896 (GRCm39) |
E353V |
probably damaging |
Het |
Thap2 |
T |
A |
10: 115,208,665 (GRCm39) |
K152* |
probably null |
Het |
Thbd |
A |
T |
2: 148,249,655 (GRCm39) |
I71N |
probably damaging |
Het |
V1ra8 |
T |
A |
6: 90,180,036 (GRCm39) |
W80R |
probably damaging |
Het |
Vmn1r218 |
A |
G |
13: 23,320,743 (GRCm39) |
Y30C |
probably benign |
Het |
Vmn2r60 |
C |
A |
7: 41,845,049 (GRCm39) |
T804K |
probably damaging |
Het |
Vmn2r68 |
A |
T |
7: 84,882,926 (GRCm39) |
D275E |
probably benign |
Het |
Vps13c |
A |
G |
9: 67,858,721 (GRCm39) |
I2724V |
probably benign |
Het |
Xrcc5 |
C |
A |
1: 72,385,430 (GRCm39) |
P507Q |
probably damaging |
Het |
Zfp120 |
A |
T |
2: 149,959,499 (GRCm39) |
Y274* |
probably null |
Het |
Zfp780b |
C |
A |
7: 27,674,173 (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 |
|
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 |
|
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'- GGCAAACTGGGGTTAACTCTG -3'
(R):5'- GCCAGGCAATAATGTGAGATCC -3'
Sequencing Primer
(F):5'- CAAACTGGGGTTAACTCTGATGAG -3'
(R):5'- ATCCATTCTCGTTCTGGATTAGAG -3'
|
Posted On |
2016-10-05 |