Incidental Mutation 'R8400:Fchsd2'
| ID |
647812 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fchsd2
|
| Ensembl Gene |
ENSMUSG00000030691 |
| Gene Name |
FCH and double SH3 domains 2 |
| Synonyms |
Sh3md3 |
| MMRRC Submission |
067763-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.224)
|
| Stock # |
R8400 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
100757836-100933613 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 100902780 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 386
(Q386L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032931
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032931]
[ENSMUST00000098250]
|
| AlphaFold |
Q3USJ8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000032931
AA Change: Q386L
PolyPhen 2
Score 0.782 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000032931
Gene: ENSMUSG00000030691
AA Change: Q386L
| 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: Q362L
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000095850
Gene: ENSMUSG00000030691
AA Change: Q362L
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
G |
A |
11: 9,243,925 (GRCm39) |
M1929I |
probably benign |
Het |
| Abca13 |
T |
C |
11: 9,248,218 (GRCm39) |
I2655T |
probably damaging |
Het |
| Acad10 |
A |
G |
5: 121,764,268 (GRCm39) |
V887A |
possibly damaging |
Het |
| Acot10 |
T |
C |
15: 20,666,258 (GRCm39) |
E161G |
possibly damaging |
Het |
| Astn1 |
C |
T |
1: 158,484,670 (GRCm39) |
P919L |
probably benign |
Het |
| Atp1a4 |
T |
A |
1: 172,062,061 (GRCm39) |
D688V |
probably damaging |
Het |
| C4bp |
C |
A |
1: 130,564,484 (GRCm39) |
C400F |
probably damaging |
Het |
| Col6a6 |
A |
C |
9: 105,651,995 (GRCm39) |
D1005E |
probably damaging |
Het |
| Csnk1g3 |
C |
T |
18: 54,086,360 (GRCm39) |
R422C |
probably benign |
Het |
| Cutc |
T |
C |
19: 43,741,644 (GRCm39) |
S15P |
probably benign |
Het |
| Dgkb |
T |
C |
12: 38,652,837 (GRCm39) |
|
probably null |
Het |
| Disc1 |
T |
C |
8: 125,959,732 (GRCm39) |
V748A |
probably benign |
Het |
| Dmbt1 |
C |
G |
7: 130,684,317 (GRCm39) |
D778E |
unknown |
Het |
| Dmxl2 |
T |
C |
9: 54,291,037 (GRCm39) |
Y2471C |
probably benign |
Het |
| Fam185a |
T |
A |
5: 21,643,814 (GRCm39) |
N243K |
probably benign |
Het |
| Gm904 |
C |
A |
13: 50,797,453 (GRCm39) |
P49Q |
probably damaging |
Het |
| H2-Q10 |
C |
T |
17: 35,781,374 (GRCm39) |
R59C |
probably damaging |
Het |
| Ier5l |
A |
G |
2: 30,363,105 (GRCm39) |
Y307H |
possibly damaging |
Het |
| Kmt2e |
C |
A |
5: 23,702,090 (GRCm39) |
T906K |
probably benign |
Het |
| Kndc1 |
C |
T |
7: 139,493,434 (GRCm39) |
R467W |
probably damaging |
Het |
| Muc5ac |
C |
A |
7: 141,364,213 (GRCm39) |
T2508K |
probably damaging |
Het |
| Nlrp9a |
A |
T |
7: 26,264,431 (GRCm39) |
M784L |
probably benign |
Het |
| Nlrp9b |
T |
A |
7: 19,757,937 (GRCm39) |
C391* |
probably null |
Het |
| Nubp2 |
A |
C |
17: 25,103,439 (GRCm39) |
M146R |
probably damaging |
Het |
| Or10q3 |
T |
A |
19: 11,848,578 (GRCm39) |
M1L |
probably damaging |
Het |
| Or1a1b |
C |
T |
11: 74,097,221 (GRCm39) |
V274M |
possibly damaging |
Het |
| Or2ag1b |
T |
A |
7: 106,288,876 (GRCm39) |
S21C |
probably benign |
Het |
| Or2b2 |
G |
A |
13: 21,888,085 (GRCm39) |
V305M |
probably benign |
Het |
| Or4k45 |
A |
T |
2: 111,395,747 (GRCm39) |
L14H |
probably damaging |
Het |
| Or7e166 |
A |
T |
9: 19,624,389 (GRCm39) |
N89Y |
probably benign |
Het |
| Otud1 |
T |
C |
2: 19,663,189 (GRCm39) |
V106A |
possibly damaging |
Het |
| Pcdhac1 |
T |
A |
18: 37,225,453 (GRCm39) |
Y755* |
probably null |
Het |
| Pkd1l3 |
C |
T |
8: 110,350,520 (GRCm39) |
P455L |
possibly damaging |
Het |
| Ptprb |
GAGACCCTCGGGAGCACTGCAGAGACCCTCAGGAACACTGCAAAGACCCTCGGGAGCACTGCAGAGACCCTCAGGAACACTGCAAAGACCCTCGGGAGCACTGCAGAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT |
GAGACCCTCGGGAGCACTGCAGAGACCCTCAGGAACACTGCAAAGACCCTCGGGAGCACTGCAGAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT |
10: 116,119,477 (GRCm39) |
|
probably benign |
Het |
| Samhd1 |
T |
C |
2: 156,941,353 (GRCm39) |
E648G |
probably benign |
Het |
| Smarca5 |
T |
C |
8: 81,435,756 (GRCm39) |
T794A |
probably benign |
Het |
| Spc24 |
A |
T |
9: 21,669,026 (GRCm39) |
L87H |
probably damaging |
Het |
| Sppl2b |
TGTCACAGGT |
TGT |
10: 80,701,903 (GRCm39) |
|
probably null |
Het |
| Stra6l |
G |
A |
4: 45,864,905 (GRCm39) |
R77Q |
probably damaging |
Het |
| Tdrd1 |
G |
A |
19: 56,837,081 (GRCm39) |
V472M |
probably benign |
Het |
| Tsc2 |
A |
T |
17: 24,823,961 (GRCm39) |
I948K |
possibly damaging |
Het |
| Ttc39d |
T |
C |
17: 80,523,434 (GRCm39) |
V31A |
probably benign |
Het |
| Vmn1r158 |
A |
T |
7: 22,489,305 (GRCm39) |
C301* |
probably null |
Het |
| Vmn2r22 |
A |
T |
6: 123,614,486 (GRCm39) |
L368* |
probably null |
Het |
| Vmn2r79 |
A |
G |
7: 86,651,308 (GRCm39) |
T236A |
probably benign |
Het |
| Vwa1 |
T |
C |
4: 155,857,225 (GRCm39) |
H191R |
probably benign |
Het |
| Zdbf2 |
T |
A |
1: 63,344,135 (GRCm39) |
V838E |
possibly 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 |
|
|
R3898:Fchsd2
|
UTSW |
7 |
100,841,006 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
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 |
|
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'- GGAGCAAAGACAAGGACTCTTCC -3'
(R):5'- ACTGTGGACACAAAGATGTTCATTG -3'
Sequencing Primer
(F):5'- GGACTCTTCCTTGTTTTGCAAC -3'
(R):5'- GGACACAAAGATGTTCATTGTCTTC -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation