Incidental Mutation 'IGL02065:Fchsd2'
| ID |
185623 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fchsd2
|
| Ensembl Gene |
ENSMUSG00000030691 |
| Gene Name |
FCH and double SH3 domains 2 |
| Synonyms |
Sh3md3 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.224)
|
| Stock # |
IGL02065
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
100757836-100933613 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to G
at 100826429 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146962
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032931]
[ENSMUST00000098250]
[ENSMUST00000208439]
|
| AlphaFold |
Q3USJ8 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000032931
|
| SMART Domains |
Protein: ENSMUSP00000032931
Gene: ENSMUSG00000030691
| 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 null
Transcript: ENSMUST00000098250
|
| SMART Domains |
Protein: ENSMUSP00000095850
Gene: ENSMUSG00000030691
| 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 |
probably null
Transcript: ENSMUST00000208439
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc10 |
C |
T |
17: 46,623,827 (GRCm39) |
E770K |
possibly damaging |
Het |
| Abhd17a |
C |
A |
10: 80,422,395 (GRCm39) |
A22S |
probably benign |
Het |
| Actbl2 |
A |
G |
13: 111,392,225 (GRCm39) |
T187A |
probably benign |
Het |
| Adgrl3 |
G |
A |
5: 81,660,064 (GRCm39) |
G278R |
probably damaging |
Het |
| Apoh |
C |
A |
11: 108,305,131 (GRCm39) |
|
probably benign |
Het |
| Atp2b2 |
A |
G |
6: 113,790,828 (GRCm39) |
F192S |
probably damaging |
Het |
| Bdh1 |
T |
C |
16: 31,268,754 (GRCm39) |
I163T |
possibly damaging |
Het |
| Bmp1 |
G |
T |
14: 70,723,660 (GRCm39) |
N725K |
probably damaging |
Het |
| Bmp1 |
T |
A |
14: 70,727,547 (GRCm39) |
I679F |
probably damaging |
Het |
| Bmp2 |
T |
A |
2: 133,402,844 (GRCm39) |
F132I |
probably benign |
Het |
| Bpifb5 |
T |
C |
2: 154,069,103 (GRCm39) |
L140P |
probably damaging |
Het |
| Brd8 |
C |
T |
18: 34,735,780 (GRCm39) |
S899N |
probably damaging |
Het |
| Carmil3 |
T |
C |
14: 55,731,279 (GRCm39) |
|
probably benign |
Het |
| Ccdc57 |
T |
C |
11: 120,764,586 (GRCm39) |
T730A |
possibly damaging |
Het |
| Cdh10 |
G |
T |
15: 19,013,342 (GRCm39) |
K647N |
probably damaging |
Het |
| Cdh17 |
A |
C |
4: 11,771,373 (GRCm39) |
|
probably benign |
Het |
| Cep126 |
A |
G |
9: 8,099,925 (GRCm39) |
S870P |
probably benign |
Het |
| Col6a4 |
T |
C |
9: 105,954,302 (GRCm39) |
T346A |
probably damaging |
Het |
| Csmd3 |
A |
C |
15: 47,530,024 (GRCm39) |
V2592G |
probably damaging |
Het |
| Dnajc16 |
A |
T |
4: 141,504,244 (GRCm39) |
F239I |
probably damaging |
Het |
| Entrep3 |
C |
T |
3: 89,095,903 (GRCm39) |
R545* |
probably null |
Het |
| F5 |
G |
A |
1: 164,017,695 (GRCm39) |
V591M |
probably damaging |
Het |
| Flad1 |
A |
T |
3: 89,316,294 (GRCm39) |
D89E |
probably damaging |
Het |
| Fsd1 |
C |
A |
17: 56,303,499 (GRCm39) |
P457Q |
probably damaging |
Het |
| Gm21985 |
A |
G |
2: 112,187,929 (GRCm39) |
D1012G |
possibly damaging |
Het |
| Gon4l |
A |
G |
3: 88,764,517 (GRCm39) |
D366G |
probably null |
Het |
| Hadha |
A |
G |
5: 30,347,843 (GRCm39) |
|
probably benign |
Het |
| Kdr |
A |
G |
5: 76,122,513 (GRCm39) |
|
probably benign |
Het |
| Kyat3 |
A |
G |
3: 142,426,136 (GRCm39) |
K24R |
probably benign |
Het |
| Map3k21 |
A |
G |
8: 126,668,397 (GRCm39) |
D661G |
probably benign |
Het |
| Mical1 |
A |
T |
10: 41,360,407 (GRCm39) |
K615N |
possibly damaging |
Het |
| Ncor1 |
T |
C |
11: 62,310,435 (GRCm39) |
K204E |
possibly damaging |
Het |
| Nmral1 |
T |
A |
16: 4,534,346 (GRCm39) |
I32F |
probably benign |
Het |
| Nrros |
T |
C |
16: 31,963,492 (GRCm39) |
D175G |
possibly damaging |
Het |
| Or10ak8 |
G |
A |
4: 118,773,968 (GRCm39) |
T232I |
probably benign |
Het |
| Or12j5 |
T |
C |
7: 140,084,077 (GRCm39) |
I98M |
probably benign |
Het |
| Ryr2 |
A |
G |
13: 11,587,143 (GRCm39) |
F4713L |
possibly damaging |
Het |
| Serpinb1b |
G |
A |
13: 33,275,301 (GRCm39) |
G142D |
possibly damaging |
Het |
| Slc10a1 |
A |
G |
12: 81,007,248 (GRCm39) |
S178P |
possibly damaging |
Het |
| Spint1 |
G |
A |
2: 119,068,698 (GRCm39) |
R144H |
probably benign |
Het |
| Sult6b1 |
C |
T |
17: 79,196,504 (GRCm39) |
G213R |
probably damaging |
Het |
| Themis3 |
G |
T |
17: 66,862,900 (GRCm39) |
H353N |
probably benign |
Het |
| Tpr |
T |
C |
1: 150,289,525 (GRCm39) |
S619P |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,645,134 (GRCm39) |
V11161E |
probably damaging |
Het |
| Usp13 |
G |
A |
3: 32,987,314 (GRCm39) |
V837I |
probably damaging |
Het |
| Usp25 |
T |
C |
16: 76,880,670 (GRCm39) |
V677A |
probably benign |
Het |
| Wdr62 |
A |
G |
7: 29,942,894 (GRCm39) |
V1001A |
possibly damaging |
Het |
| Whrn |
A |
T |
4: 63,336,822 (GRCm39) |
I580N |
possibly damaging |
Het |
| Wls |
T |
A |
3: 159,616,993 (GRCm39) |
V344D |
probably damaging |
Het |
| Zan |
A |
T |
5: 137,385,222 (GRCm39) |
Y5070* |
probably null |
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 |
|
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 |
|
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 |
|
| Posted On |
2014-05-07 |
Incidental Mutation