Incidental Mutation 'R3898:Fchsd2'
| ID |
309052 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fchsd2
|
| Ensembl Gene |
ENSMUSG00000030691 |
| Gene Name |
FCH and double SH3 domains 2 |
| Synonyms |
Sh3md3 |
| MMRRC Submission |
040906-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.214)
|
| Stock # |
R3898 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
100757836-100933613 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 100841006 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 172
(K172E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146962
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032931]
[ENSMUST00000098250]
[ENSMUST00000208439]
|
| AlphaFold |
Q3USJ8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032931
AA Change: K174E
PolyPhen 2
Score 0.450 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000032931
Gene: ENSMUSG00000030691
AA Change: K174E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FCH
|
21 |
103 |
1.3e-22 |
PFAM |
|
coiled coil region
|
379 |
421 |
N/A |
INTRINSIC |
|
low complexity region
|
466 |
474 |
N/A |
INTRINSIC |
|
SH3
|
496 |
553 |
2.39e-14 |
SMART |
|
low complexity region
|
554 |
569 |
N/A |
INTRINSIC |
|
SH3
|
594 |
652 |
1.22e-20 |
SMART |
|
low complexity region
|
676 |
695 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000098250
AA Change: K174E
PolyPhen 2
Score 0.450 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000095850
Gene: ENSMUSG00000030691
AA Change: K174E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FCH
|
12 |
108 |
3.6e-23 |
PFAM |
|
coiled coil region
|
355 |
397 |
N/A |
INTRINSIC |
|
low complexity region
|
442 |
450 |
N/A |
INTRINSIC |
|
SH3
|
472 |
529 |
2.39e-14 |
SMART |
|
low complexity region
|
530 |
545 |
N/A |
INTRINSIC |
|
SH3
|
570 |
628 |
1.22e-20 |
SMART |
|
low complexity region
|
652 |
671 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137196
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142727
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145802
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208063
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000208439
AA Change: K172E
PolyPhen 2
Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
|
| Meta Mutation Damage Score |
0.2902 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alg1 |
A |
C |
16: 5,054,253 (GRCm39) |
I154L |
possibly damaging |
Het |
| Ankra2 |
C |
T |
13: 98,410,317 (GRCm39) |
L136F |
probably benign |
Het |
| Anpep |
A |
G |
7: 79,488,973 (GRCm39) |
S372P |
probably benign |
Het |
| Cabyr |
T |
C |
18: 12,884,580 (GRCm39) |
S356P |
probably benign |
Het |
| Cad |
G |
T |
5: 31,231,366 (GRCm39) |
C1633F |
probably benign |
Het |
| Cadps2 |
G |
A |
6: 23,528,125 (GRCm39) |
R425W |
probably damaging |
Het |
| Ccdc180 |
A |
G |
4: 45,912,799 (GRCm39) |
K593E |
possibly damaging |
Het |
| Cdh8 |
T |
A |
8: 99,898,005 (GRCm39) |
E436V |
probably damaging |
Het |
| Cfap95 |
A |
G |
19: 23,570,466 (GRCm39) |
V101A |
probably benign |
Het |
| Cln6 |
T |
G |
9: 62,757,934 (GRCm39) |
F231C |
probably damaging |
Het |
| Cul2 |
A |
G |
18: 3,434,033 (GRCm39) |
K677E |
probably benign |
Het |
| Cyp2c69 |
T |
C |
19: 39,864,834 (GRCm39) |
I215V |
probably benign |
Het |
| Dhx36 |
T |
C |
3: 62,399,790 (GRCm39) |
D393G |
probably damaging |
Het |
| Dnah7b |
T |
C |
1: 46,282,417 (GRCm39) |
V2850A |
probably damaging |
Het |
| Dnah8 |
G |
A |
17: 31,073,872 (GRCm39) |
R4514H |
probably damaging |
Het |
| Drg2 |
T |
A |
11: 60,347,460 (GRCm39) |
S50T |
probably benign |
Het |
| Ecscr |
A |
G |
18: 35,846,705 (GRCm39) |
S230P |
possibly damaging |
Het |
| Eif2ak4 |
T |
C |
2: 118,261,404 (GRCm39) |
V527A |
probably damaging |
Het |
| Elfn1 |
G |
A |
5: 139,957,719 (GRCm39) |
R241H |
probably damaging |
Het |
| Fli1 |
C |
T |
9: 32,388,018 (GRCm39) |
G24R |
possibly damaging |
Het |
| Frmd3 |
A |
G |
4: 73,992,346 (GRCm39) |
D71G |
probably damaging |
Het |
| Ggnbp1 |
A |
G |
17: 27,244,312 (GRCm39) |
|
probably benign |
Het |
| Gpat2 |
T |
C |
2: 127,277,018 (GRCm39) |
F713S |
probably damaging |
Het |
| H2-Q2 |
C |
T |
17: 35,561,743 (GRCm39) |
P78S |
probably damaging |
Het |
| Kcnq2 |
C |
T |
2: 180,751,479 (GRCm39) |
A306T |
probably damaging |
Het |
| Lmntd1 |
G |
A |
6: 145,359,152 (GRCm39) |
P333S |
probably benign |
Het |
| Lrp1 |
G |
A |
10: 127,427,969 (GRCm39) |
R535* |
probably null |
Het |
| Mmrn2 |
G |
T |
14: 34,121,517 (GRCm39) |
|
probably null |
Het |
| Nlrp1a |
G |
A |
11: 71,013,700 (GRCm39) |
P517S |
probably benign |
Het |
| Or2y13 |
A |
T |
11: 49,415,386 (GRCm39) |
I279F |
probably damaging |
Het |
| Pou4f1 |
T |
C |
14: 104,703,165 (GRCm39) |
*422W |
probably null |
Het |
| Ptpn14 |
C |
T |
1: 189,582,728 (GRCm39) |
P525L |
probably benign |
Het |
| Pyroxd2 |
C |
A |
19: 42,728,831 (GRCm39) |
G190C |
probably damaging |
Het |
| Rd3 |
T |
C |
1: 191,717,217 (GRCm39) |
V114A |
probably damaging |
Het |
| Sptbn5 |
T |
C |
2: 119,887,691 (GRCm39) |
|
noncoding transcript |
Het |
| Tbc1d5 |
A |
T |
17: 51,270,772 (GRCm39) |
F153Y |
probably damaging |
Het |
| Thop1 |
G |
A |
10: 80,916,278 (GRCm39) |
G429S |
probably damaging |
Het |
| Trim30d |
T |
A |
7: 104,132,736 (GRCm39) |
I184L |
probably benign |
Het |
| Ubr5 |
T |
C |
15: 37,997,983 (GRCm39) |
S1727G |
probably benign |
Het |
| Vezf1 |
T |
C |
11: 87,966,999 (GRCm39) |
F77L |
probably benign |
Het |
| Vmn2r12 |
C |
T |
5: 109,238,370 (GRCm39) |
A457T |
probably benign |
Het |
| Xirp1 |
A |
T |
9: 119,848,406 (GRCm39) |
M159K |
probably benign |
Het |
| Zkscan17 |
C |
T |
11: 59,394,263 (GRCm39) |
A113T |
probably damaging |
Het |
| Zyg11a |
T |
A |
4: 108,067,391 (GRCm39) |
N40Y |
probably damaging |
Het |
|
| Other mutations in Fchsd2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00904:Fchsd2
|
APN |
7 |
100,920,829 (GRCm39) |
missense |
probably benign |
0.26 |
|
IGL00910:Fchsd2
|
APN |
7 |
100,926,833 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02065:Fchsd2
|
APN |
7 |
100,826,429 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02545:Fchsd2
|
APN |
7 |
100,847,715 (GRCm39) |
missense |
probably benign |
|
|
IGL02651:Fchsd2
|
APN |
7 |
100,926,807 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
IGL03286:Fchsd2
|
APN |
7 |
100,908,982 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03333:Fchsd2
|
APN |
7 |
100,847,703 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0066:Fchsd2
|
UTSW |
7 |
100,927,631 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R0066:Fchsd2
|
UTSW |
7 |
100,927,631 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R0668:Fchsd2
|
UTSW |
7 |
100,846,127 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R1281:Fchsd2
|
UTSW |
7 |
100,902,759 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1868:Fchsd2
|
UTSW |
7 |
100,899,645 (GRCm39) |
splice site |
probably benign |
|
|
R1996:Fchsd2
|
UTSW |
7 |
100,927,660 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2024:Fchsd2
|
UTSW |
7 |
100,847,740 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R2060:Fchsd2
|
UTSW |
7 |
100,926,624 (GRCm39) |
missense |
probably benign |
|
|
R2243:Fchsd2
|
UTSW |
7 |
100,883,092 (GRCm39) |
missense |
probably benign |
0.30 |
|
R3419:Fchsd2
|
UTSW |
7 |
100,927,867 (GRCm39) |
splice site |
probably null |
|
|
R3899:Fchsd2
|
UTSW |
7 |
100,841,006 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R3900:Fchsd2
|
UTSW |
7 |
100,841,006 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4496:Fchsd2
|
UTSW |
7 |
100,931,702 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4569:Fchsd2
|
UTSW |
7 |
100,926,809 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R4667:Fchsd2
|
UTSW |
7 |
100,899,656 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5408:Fchsd2
|
UTSW |
7 |
100,920,781 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5449:Fchsd2
|
UTSW |
7 |
100,926,731 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5543:Fchsd2
|
UTSW |
7 |
100,920,906 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5665:Fchsd2
|
UTSW |
7 |
100,759,991 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R5894:Fchsd2
|
UTSW |
7 |
100,840,959 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5936:Fchsd2
|
UTSW |
7 |
100,840,908 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6243:Fchsd2
|
UTSW |
7 |
100,921,016 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
R6244:Fchsd2
|
UTSW |
7 |
100,908,983 (GRCm39) |
splice site |
probably null |
|
|
R6247:Fchsd2
|
UTSW |
7 |
100,902,747 (GRCm39) |
missense |
probably benign |
|
|
R6932:Fchsd2
|
UTSW |
7 |
100,926,621 (GRCm39) |
nonsense |
probably null |
|
|
R7250:Fchsd2
|
UTSW |
7 |
100,908,892 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R7418:Fchsd2
|
UTSW |
7 |
100,920,831 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R7469:Fchsd2
|
UTSW |
7 |
100,927,863 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7522:Fchsd2
|
UTSW |
7 |
100,908,829 (GRCm39) |
nonsense |
probably null |
|
|
R7921:Fchsd2
|
UTSW |
7 |
100,899,749 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8209:Fchsd2
|
UTSW |
7 |
100,931,679 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8226:Fchsd2
|
UTSW |
7 |
100,931,679 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8285:Fchsd2
|
UTSW |
7 |
100,883,128 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R8400:Fchsd2
|
UTSW |
7 |
100,902,780 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R9561:Fchsd2
|
UTSW |
7 |
100,920,778 (GRCm39) |
missense |
probably benign |
0.22 |
|
R9794:Fchsd2
|
UTSW |
7 |
100,893,410 (GRCm39) |
missense |
probably benign |
0.09 |
|
X0028:Fchsd2
|
UTSW |
7 |
100,760,011 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCCATCCTGAAGACATATTGCAC -3'
(R):5'- AGCTCTCAAGTCTGTAAATCCAATG -3'
Sequencing Primer
(F):5'- TCCTGAAGACATATTGCACATAGAAC -3'
(R):5'- CTATCAAATATCCATACTCTGCCATG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation