Incidental Mutation 'R6439:Fchsd1'
| ID |
518953 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fchsd1
|
| Ensembl Gene |
ENSMUSG00000038524 |
| Gene Name |
FCH and double SH3 domains 1 |
| Synonyms |
A030002D08Rik |
| MMRRC Submission |
044577-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.124)
|
| Stock # |
R6439 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
38090484-38102827 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 38102487 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 14
(V14I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047878
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042944]
[ENSMUST00000043437]
[ENSMUST00000163131]
[ENSMUST00000164222]
[ENSMUST00000166148]
|
| AlphaFold |
Q6PFY1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042944
|
| SMART Domains |
Protein: ENSMUSP00000035662
Gene: ENSMUSG00000024451
| Domain | Start | End | E-Value | Type |
|---|
|
SAM
|
1 |
68 |
1.5e-7 |
SMART |
|
low complexity region
|
81 |
98 |
N/A |
INTRINSIC |
|
low complexity region
|
134 |
142 |
N/A |
INTRINSIC |
|
PH
|
283 |
376 |
3.4e-16 |
SMART |
|
PH
|
390 |
480 |
1.61e-8 |
SMART |
|
ArfGap
|
484 |
606 |
1.44e-25 |
SMART |
|
low complexity region
|
642 |
661 |
N/A |
INTRINSIC |
|
PH
|
671 |
785 |
2.86e1 |
SMART |
|
PH
|
795 |
901 |
6.87e-3 |
SMART |
|
RhoGAP
|
913 |
1089 |
2.11e-47 |
SMART |
|
Pfam:RA
|
1113 |
1206 |
6.2e-16 |
PFAM |
|
PH
|
1220 |
1323 |
3.46e-8 |
SMART |
|
low complexity region
|
1388 |
1407 |
N/A |
INTRINSIC |
|
low complexity region
|
1457 |
1469 |
N/A |
INTRINSIC |
|
low complexity region
|
1475 |
1486 |
N/A |
INTRINSIC |
|
low complexity region
|
1494 |
1529 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000043437
AA Change: V14I
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000047878
Gene: ENSMUSG00000038524
AA Change: V14I
| 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 |
possibly damaging
Transcript: ENSMUST00000163131
AA Change: V14I
PolyPhen 2
Score 0.875 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000133058
Gene: ENSMUSG00000038524
AA Change: V14I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FCH
|
12 |
107 |
1.6e-18 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000164222
AA Change: V14I
PolyPhen 2
Score 0.683 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000128481
Gene: ENSMUSG00000038524
AA Change: V14I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FCH
|
12 |
56 |
2.5e-11 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000166148
AA Change: V14I
PolyPhen 2
Score 0.814 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000129825
Gene: ENSMUSG00000038524
AA Change: V14I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FCH
|
12 |
93 |
1.6e-17 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166973
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168136
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171253
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168816
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.5%
|
| Validation Efficiency |
100% (35/35) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9130401M01Rik |
T |
C |
15: 57,895,444 (GRCm39) |
D18G |
probably null |
Het |
| A530064D06Rik |
A |
G |
17: 48,473,653 (GRCm39) |
V88A |
probably damaging |
Het |
| Abhd6 |
T |
C |
14: 8,055,589 (GRCm38) |
L272P |
probably damaging |
Het |
| Adam25 |
C |
T |
8: 41,207,627 (GRCm39) |
R298C |
possibly damaging |
Het |
| Adam34l |
T |
C |
8: 44,078,988 (GRCm39) |
N412S |
probably damaging |
Het |
| Afap1l2 |
T |
C |
19: 56,916,818 (GRCm39) |
N219D |
possibly damaging |
Het |
| Brd3 |
A |
G |
2: 27,353,938 (GRCm39) |
F58S |
probably damaging |
Het |
| Ceacam3 |
G |
A |
7: 16,892,253 (GRCm39) |
R332H |
possibly damaging |
Het |
| Cfap57 |
C |
A |
4: 118,446,172 (GRCm39) |
|
probably null |
Het |
| Chd2 |
A |
G |
7: 73,130,154 (GRCm39) |
F834L |
probably damaging |
Het |
| Crocc2 |
A |
G |
1: 93,111,126 (GRCm39) |
K140E |
possibly damaging |
Het |
| Fam117b |
A |
G |
1: 60,020,731 (GRCm39) |
T534A |
probably benign |
Het |
| Grid2ip |
A |
T |
5: 143,359,257 (GRCm39) |
E291V |
probably damaging |
Het |
| Hbp1 |
A |
G |
12: 31,987,720 (GRCm39) |
L146S |
probably damaging |
Het |
| Hr |
A |
G |
14: 70,799,276 (GRCm39) |
D616G |
possibly damaging |
Het |
| Igfbp5 |
A |
C |
1: 72,902,300 (GRCm39) |
|
probably null |
Het |
| Jak2 |
C |
T |
19: 29,287,022 (GRCm39) |
|
probably null |
Het |
| Mpl |
T |
C |
4: 118,305,750 (GRCm39) |
D425G |
probably damaging |
Het |
| Ms4a4c |
T |
C |
19: 11,398,676 (GRCm39) |
S165P |
probably benign |
Het |
| Mycbp2 |
A |
G |
14: 103,392,911 (GRCm39) |
S3217P |
probably benign |
Het |
| Nfatc3 |
T |
A |
8: 106,810,502 (GRCm39) |
L426* |
probably null |
Het |
| Or4f47 |
T |
C |
2: 111,972,509 (GRCm39) |
V73A |
probably benign |
Het |
| Or5ak24 |
T |
C |
2: 85,261,068 (GRCm39) |
Y35C |
probably damaging |
Het |
| Or7a42 |
T |
A |
10: 78,791,818 (GRCm39) |
Y260N |
probably damaging |
Het |
| Phf1 |
G |
T |
17: 27,155,586 (GRCm39) |
V384L |
probably benign |
Het |
| Rangap1 |
T |
C |
15: 81,596,336 (GRCm39) |
T259A |
probably benign |
Het |
| Rec8 |
A |
G |
14: 55,856,076 (GRCm39) |
N6S |
possibly damaging |
Het |
| Rmdn2 |
G |
A |
17: 79,934,971 (GRCm39) |
|
probably benign |
Het |
| Scin |
T |
C |
12: 40,118,945 (GRCm39) |
Y617C |
probably damaging |
Het |
| Ttc13 |
T |
C |
8: 125,400,221 (GRCm39) |
S744G |
probably benign |
Het |
| Ttc14 |
T |
C |
3: 33,862,968 (GRCm39) |
|
probably benign |
Het |
| Uggt1 |
T |
C |
1: 36,214,032 (GRCm39) |
E219G |
possibly damaging |
Het |
| Vmn1r183 |
A |
G |
7: 23,754,704 (GRCm39) |
D169G |
possibly damaging |
Het |
| Vmn1r72 |
A |
T |
7: 11,413,064 (GRCm39) |
|
probably null |
Het |
| Zfp326 |
T |
G |
5: 106,036,584 (GRCm39) |
M76R |
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 |
|
|
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 |
|
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'- AGGCCAGAAAGCTCATCCAG -3'
(R):5'- CCCGAAAAGTGAGATTTGCCC -3'
Sequencing Primer
(F):5'- GAAAGCTCATCCAGACAACGC -3'
(R):5'- CCAGAAAAAGGGATTTCTTGGAGGTC -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation