Incidental Mutation 'R6245:Fchsd1'
| ID |
505562 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fchsd1
|
| Ensembl Gene |
ENSMUSG00000038524 |
| Gene Name |
FCH and double SH3 domains 1 |
| Synonyms |
A030002D08Rik |
| MMRRC Submission |
044403-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.124)
|
| Stock # |
R6245 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
38090484-38102827 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 38095828 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 552
(L552Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047878
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043437]
[ENSMUST00000070709]
[ENSMUST00000091932]
[ENSMUST00000163128]
[ENSMUST00000163131]
[ENSMUST00000163591]
[ENSMUST00000166148]
[ENSMUST00000176902]
[ENSMUST00000176104]
[ENSMUST00000177058]
[ENSMUST00000168056]
[ENSMUST00000169498]
|
| AlphaFold |
Q6PFY1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000043437
AA Change: L552Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000047878
Gene: ENSMUSG00000038524
AA Change: L552Q
| 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: 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 |
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: 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: 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: ENSMUST00000164499
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166973
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166727
|
| 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 |
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 |
noncoding transcript
Transcript: ENSMUST00000165643
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168136
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168816
|
| 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: 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: 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166531
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
A |
G |
11: 110,026,249 (GRCm39) |
I937T |
probably damaging |
Het |
| Adgrl3 |
T |
A |
5: 81,836,403 (GRCm39) |
N720K |
probably benign |
Het |
| Akr1c21 |
T |
G |
13: 4,625,231 (GRCm39) |
V54G |
possibly damaging |
Het |
| Alpi |
G |
T |
1: 87,028,556 (GRCm39) |
D111E |
probably damaging |
Het |
| Armc3 |
C |
T |
2: 19,253,516 (GRCm39) |
T219M |
probably damaging |
Het |
| Bms1 |
T |
A |
6: 118,373,797 (GRCm39) |
E780V |
probably damaging |
Het |
| Ccdc159 |
T |
C |
9: 21,846,864 (GRCm39) |
S244P |
probably damaging |
Het |
| Cdon |
T |
C |
9: 35,388,235 (GRCm39) |
W737R |
probably damaging |
Het |
| Chdh |
T |
A |
14: 29,757,262 (GRCm39) |
V395D |
probably damaging |
Het |
| Col22a1 |
C |
A |
15: 71,845,665 (GRCm39) |
D366Y |
probably damaging |
Het |
| Cplane1 |
T |
C |
15: 8,207,902 (GRCm39) |
Y218H |
probably benign |
Het |
| Crnkl1 |
T |
A |
2: 145,770,051 (GRCm39) |
N264I |
probably benign |
Het |
| Ctnnd2 |
T |
C |
15: 30,905,894 (GRCm39) |
L847P |
probably damaging |
Het |
| Cyp4a31 |
A |
C |
4: 115,428,545 (GRCm39) |
T382P |
possibly damaging |
Het |
| Dcaf8 |
A |
T |
1: 171,993,434 (GRCm39) |
M1L |
probably benign |
Het |
| Ddx31 |
T |
A |
2: 28,734,994 (GRCm39) |
F52I |
probably benign |
Het |
| Dynlt5 |
A |
G |
4: 102,845,864 (GRCm39) |
N32S |
probably benign |
Het |
| Efcab3 |
A |
T |
11: 104,675,834 (GRCm39) |
Y1542F |
probably benign |
Het |
| Eps15 |
G |
A |
4: 109,240,063 (GRCm39) |
S852N |
possibly damaging |
Het |
| Fetub |
C |
T |
16: 22,751,081 (GRCm39) |
R143C |
probably damaging |
Het |
| Frem2 |
T |
C |
3: 53,563,245 (GRCm39) |
M421V |
probably benign |
Het |
| Gm1110 |
T |
G |
9: 26,832,043 (GRCm39) |
H36P |
probably benign |
Het |
| Hadha |
C |
T |
5: 30,325,042 (GRCm39) |
|
probably null |
Het |
| Hspa4 |
C |
T |
11: 53,153,766 (GRCm39) |
E702K |
probably benign |
Het |
| Intu |
C |
A |
3: 40,629,756 (GRCm39) |
T362K |
probably damaging |
Het |
| Jaml |
C |
T |
9: 45,009,217 (GRCm39) |
T248I |
probably damaging |
Het |
| Kcnj1 |
A |
T |
9: 32,308,163 (GRCm39) |
S176C |
probably damaging |
Het |
| Kcnj9 |
A |
G |
1: 172,153,704 (GRCm39) |
L140P |
probably damaging |
Het |
| Kif7 |
T |
C |
7: 79,351,891 (GRCm39) |
K957R |
probably damaging |
Het |
| Klc4 |
T |
A |
17: 46,947,605 (GRCm39) |
I366F |
probably damaging |
Het |
| Lamb2 |
A |
G |
9: 108,365,398 (GRCm39) |
|
probably null |
Het |
| Madd |
T |
C |
2: 91,008,449 (GRCm39) |
D151G |
probably benign |
Het |
| Man2a1 |
C |
A |
17: 65,017,821 (GRCm39) |
A689E |
probably damaging |
Het |
| Mapk8ip1 |
C |
A |
2: 92,219,589 (GRCm39) |
G81C |
probably damaging |
Het |
| Msmp |
T |
C |
4: 43,583,909 (GRCm39) |
Y48C |
probably damaging |
Het |
| Muc6 |
T |
C |
7: 141,235,086 (GRCm39) |
N567S |
probably damaging |
Het |
| Nrap |
A |
G |
19: 56,342,653 (GRCm39) |
Y748H |
probably damaging |
Het |
| Nrap |
C |
T |
19: 56,368,307 (GRCm39) |
A192T |
possibly damaging |
Het |
| Or2p2 |
T |
A |
13: 21,256,860 (GRCm39) |
T204S |
possibly damaging |
Het |
| Or2y14 |
T |
A |
11: 49,404,992 (GRCm39) |
F176I |
possibly damaging |
Het |
| Or5w15 |
G |
C |
2: 87,568,240 (GRCm39) |
Q143E |
possibly damaging |
Het |
| Pcdhb8 |
T |
G |
18: 37,490,222 (GRCm39) |
D633E |
possibly damaging |
Het |
| Pcdhb9 |
G |
A |
18: 37,536,207 (GRCm39) |
V734M |
probably damaging |
Het |
| Plscr1 |
T |
C |
9: 92,141,374 (GRCm39) |
Y21H |
unknown |
Het |
| Ptk2b |
G |
T |
14: 66,400,515 (GRCm39) |
P767T |
probably damaging |
Het |
| Ptprz1 |
T |
C |
6: 23,051,989 (GRCm39) |
Y1424H |
probably damaging |
Het |
| Sec31a |
T |
A |
5: 100,534,043 (GRCm39) |
Q118L |
probably benign |
Het |
| Selenop |
A |
G |
15: 3,304,216 (GRCm39) |
S21G |
probably damaging |
Het |
| Shank1 |
G |
A |
7: 44,001,677 (GRCm39) |
S1132N |
unknown |
Het |
| Slf1 |
A |
G |
13: 77,232,502 (GRCm39) |
L534P |
probably damaging |
Het |
| Sparcl1 |
T |
A |
5: 104,233,013 (GRCm39) |
H596L |
probably damaging |
Het |
| Spocd1 |
C |
T |
4: 129,850,901 (GRCm39) |
|
probably null |
Het |
| Tbc1d24 |
A |
T |
17: 24,404,967 (GRCm39) |
I59N |
probably damaging |
Het |
| Tjp3 |
G |
A |
10: 81,113,110 (GRCm39) |
T580I |
probably benign |
Het |
| Tmem154 |
C |
T |
3: 84,591,603 (GRCm39) |
T51M |
possibly damaging |
Het |
| Tmem8b |
G |
A |
4: 43,690,246 (GRCm39) |
V894I |
probably benign |
Het |
| Trbv20 |
A |
T |
6: 41,165,840 (GRCm39) |
L88F |
possibly damaging |
Het |
| Tssk2 |
A |
C |
16: 17,716,812 (GRCm39) |
I72L |
possibly damaging |
Het |
| Tub |
T |
A |
7: 108,626,265 (GRCm39) |
I267N |
probably damaging |
Het |
| Vmn2r104 |
A |
T |
17: 20,261,829 (GRCm39) |
F434I |
possibly damaging |
Het |
| Vmn2r42 |
T |
C |
7: 8,195,733 (GRCm39) |
N471S |
probably damaging |
Het |
| Vmn2r94 |
C |
G |
17: 18,478,385 (GRCm39) |
G121R |
probably damaging |
Het |
| Wdr72 |
T |
C |
9: 74,055,505 (GRCm39) |
S245P |
probably damaging |
Het |
| Zbtb42 |
A |
G |
12: 112,645,969 (GRCm39) |
Y48C |
probably damaging |
Het |
| Zdbf2 |
T |
C |
1: 63,343,592 (GRCm39) |
V657A |
possibly damaging |
Het |
| Zfp768 |
A |
T |
7: 126,943,263 (GRCm39) |
C288* |
probably null |
Het |
| Zfp988 |
T |
A |
4: 147,416,470 (GRCm39) |
C301* |
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 |
|
|
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 |
|
|
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'- GGACCAAGCAGTTCCTCTAC -3'
(R):5'- TGTCCCTGAGCGATATCTCAAC -3'
Sequencing Primer
(F):5'- TCTACCAGGAGAGATGGGAAGACTC -3'
(R):5'- GAGCGATATCTCAACTTCCCGG -3'
|
| Posted On |
2018-02-28 |
Incidental Mutation