Incidental Mutation 'R1077:Fsd1'
| ID |
85705 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fsd1
|
| Ensembl Gene |
ENSMUSG00000011589 |
| Gene Name |
fibronectin type 3 and SPRY domain-containing protein |
| Synonyms |
|
| MMRRC Submission |
039163-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.306)
|
| Stock # |
R1077 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
56293509-56303881 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 56297542 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000011733
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000011733]
|
| AlphaFold |
Q7TPM6 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000011733
|
| SMART Domains |
Protein: ENSMUSP00000011733
Gene: ENSMUSG00000011589
| Domain | Start | End | E-Value | Type |
|---|
|
BBC
|
4 |
130 |
7.61e-9 |
SMART |
|
FN3
|
165 |
255 |
2.96e-4 |
SMART |
|
Pfam:SPRY
|
355 |
473 |
6.3e-12 |
PFAM |
|
| Meta Mutation Damage Score |
0.9509 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.3%
- 20x: 94.6%
|
| Validation Efficiency |
100% (40/40) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a centrosome associated protein that is characterized by an N-terminal coiled-coil region downstream of B-box (BBC) domain, a central fibronectin type III domain, and a C-terminal repeats in splA and RyR (SPRY) domain. The encoded protein associates with a subset of microtubules and may be involved in the stability and organization of microtubules during cytokinesis. [provided by RefSeq, Apr 2009]
|
| Allele List at MGI |
All alleles(3) : Targeted, other(2) Gene trapped(1)
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921528I07Rik |
T |
C |
9: 114,130,770 (GRCm39) |
|
noncoding transcript |
Het |
| Apob |
A |
G |
12: 8,056,017 (GRCm39) |
K1500E |
probably benign |
Het |
| Atp8b1 |
A |
T |
18: 64,706,333 (GRCm39) |
Y225* |
probably null |
Het |
| Cdc25c |
A |
T |
18: 34,882,026 (GRCm39) |
|
probably benign |
Het |
| Ceacam15 |
T |
C |
7: 16,406,000 (GRCm39) |
N184D |
probably benign |
Het |
| Cntln |
T |
C |
4: 84,914,716 (GRCm39) |
S508P |
probably damaging |
Het |
| Defa41 |
T |
A |
8: 21,692,449 (GRCm39) |
F90Y |
probably benign |
Het |
| Dhx34 |
A |
G |
7: 15,952,293 (GRCm39) |
S111P |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,203,248 (GRCm39) |
E759G |
probably damaging |
Het |
| Fis1 |
G |
A |
5: 136,994,000 (GRCm39) |
A28T |
probably damaging |
Het |
| Grk6 |
T |
C |
13: 55,602,340 (GRCm39) |
|
probably null |
Het |
| Il23r |
A |
T |
6: 67,450,794 (GRCm39) |
H228Q |
probably benign |
Het |
| Kcnh4 |
C |
T |
11: 100,643,164 (GRCm39) |
V368I |
possibly damaging |
Het |
| Kdr |
T |
C |
5: 76,116,891 (GRCm39) |
E728G |
probably damaging |
Het |
| Krt33a |
T |
A |
11: 99,906,763 (GRCm39) |
M71L |
probably benign |
Het |
| Lrrc7 |
T |
G |
3: 157,866,780 (GRCm39) |
D987A |
probably damaging |
Het |
| Naalad2 |
C |
T |
9: 18,258,802 (GRCm39) |
R491Q |
probably damaging |
Het |
| Nedd4l |
A |
T |
18: 65,300,570 (GRCm39) |
|
probably benign |
Het |
| Pramel7 |
A |
G |
2: 87,321,534 (GRCm39) |
L167S |
probably damaging |
Het |
| Prkci |
A |
G |
3: 31,104,341 (GRCm39) |
D568G |
probably damaging |
Het |
| Psg18 |
G |
A |
7: 18,085,000 (GRCm39) |
T32I |
possibly damaging |
Het |
| Ric8b |
T |
A |
10: 84,806,581 (GRCm39) |
|
probably benign |
Het |
| Rnf213 |
T |
C |
11: 119,376,824 (GRCm39) |
|
probably benign |
Het |
| Rttn |
T |
C |
18: 89,082,373 (GRCm39) |
V1433A |
probably damaging |
Het |
| Sbf2 |
A |
T |
7: 109,966,379 (GRCm39) |
|
probably benign |
Het |
| Sdk2 |
C |
T |
11: 113,729,472 (GRCm39) |
|
silent |
Het |
| Sfta2 |
T |
C |
17: 35,961,019 (GRCm39) |
|
probably benign |
Het |
| Slc17a1 |
T |
A |
13: 24,062,433 (GRCm39) |
|
probably benign |
Het |
| Slc6a21 |
G |
A |
7: 44,937,626 (GRCm39) |
C314Y |
probably benign |
Het |
| Smpd4 |
T |
C |
16: 17,441,833 (GRCm39) |
V35A |
probably damaging |
Het |
| Sorl1 |
T |
C |
9: 41,925,786 (GRCm39) |
D1182G |
probably damaging |
Het |
| Syne2 |
A |
G |
12: 76,088,809 (GRCm39) |
I5056V |
possibly damaging |
Het |
| Tex14 |
T |
C |
11: 87,410,571 (GRCm39) |
|
probably benign |
Het |
| Tex44 |
A |
G |
1: 86,354,777 (GRCm39) |
T229A |
probably benign |
Het |
| Tfap2b |
T |
A |
1: 19,304,373 (GRCm39) |
C394* |
probably null |
Het |
| Ttk |
T |
A |
9: 83,726,202 (GRCm39) |
|
probably benign |
Het |
| Vmn2r26 |
G |
A |
6: 124,030,872 (GRCm39) |
V536I |
probably benign |
Het |
| Wac |
A |
G |
18: 7,921,916 (GRCm39) |
T553A |
probably damaging |
Het |
| Wdcp |
T |
A |
12: 4,900,685 (GRCm39) |
H180Q |
probably damaging |
Het |
| Wdr33 |
A |
G |
18: 31,968,514 (GRCm39) |
H235R |
probably benign |
Het |
|
| Other mutations in Fsd1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00436:Fsd1
|
APN |
17 |
56,300,943 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01023:Fsd1
|
APN |
17 |
56,295,245 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01382:Fsd1
|
APN |
17 |
56,303,733 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01383:Fsd1
|
APN |
17 |
56,303,733 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01384:Fsd1
|
APN |
17 |
56,303,733 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01386:Fsd1
|
APN |
17 |
56,303,733 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01387:Fsd1
|
APN |
17 |
56,303,733 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01561:Fsd1
|
APN |
17 |
56,302,363 (GRCm39) |
missense |
probably benign |
|
|
IGL02065:Fsd1
|
APN |
17 |
56,303,499 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02172:Fsd1
|
APN |
17 |
56,297,244 (GRCm39) |
splice site |
probably benign |
|
|
IGL02515:Fsd1
|
APN |
17 |
56,303,303 (GRCm39) |
missense |
probably null |
1.00 |
|
IGL02674:Fsd1
|
APN |
17 |
56,303,483 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL03135:Fsd1
|
APN |
17 |
56,297,416 (GRCm39) |
splice site |
probably null |
|
|
IGL03380:Fsd1
|
APN |
17 |
56,302,456 (GRCm39) |
missense |
probably benign |
0.00 |
|
Emboldened
|
UTSW |
17 |
56,297,542 (GRCm39) |
critical splice donor site |
probably null |
|
|
1mM(1):Fsd1
|
UTSW |
17 |
56,295,199 (GRCm39) |
missense |
probably benign |
0.26 |
|
R0201:Fsd1
|
UTSW |
17 |
56,297,522 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0521:Fsd1
|
UTSW |
17 |
56,298,245 (GRCm39) |
missense |
probably benign |
|
|
R0718:Fsd1
|
UTSW |
17 |
56,303,445 (GRCm39) |
splice site |
probably null |
|
|
R1519:Fsd1
|
UTSW |
17 |
56,300,870 (GRCm39) |
missense |
probably benign |
0.14 |
|
R1696:Fsd1
|
UTSW |
17 |
56,295,257 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1867:Fsd1
|
UTSW |
17 |
56,298,254 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2173:Fsd1
|
UTSW |
17 |
56,298,223 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R3889:Fsd1
|
UTSW |
17 |
56,300,893 (GRCm39) |
missense |
probably benign |
0.27 |
|
R3950:Fsd1
|
UTSW |
17 |
56,302,517 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4787:Fsd1
|
UTSW |
17 |
56,303,257 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R4912:Fsd1
|
UTSW |
17 |
56,298,241 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R4936:Fsd1
|
UTSW |
17 |
56,303,452 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R5718:Fsd1
|
UTSW |
17 |
56,297,542 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R5749:Fsd1
|
UTSW |
17 |
56,302,849 (GRCm39) |
splice site |
probably null |
|
|
R7077:Fsd1
|
UTSW |
17 |
56,300,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7078:Fsd1
|
UTSW |
17 |
56,300,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7091:Fsd1
|
UTSW |
17 |
56,300,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7092:Fsd1
|
UTSW |
17 |
56,300,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7137:Fsd1
|
UTSW |
17 |
56,300,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7173:Fsd1
|
UTSW |
17 |
56,303,696 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R7174:Fsd1
|
UTSW |
17 |
56,298,356 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7474:Fsd1
|
UTSW |
17 |
56,295,149 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7727:Fsd1
|
UTSW |
17 |
56,295,150 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8113:Fsd1
|
UTSW |
17 |
56,302,881 (GRCm39) |
missense |
probably benign |
|
|
R9477:Fsd1
|
UTSW |
17 |
56,295,720 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
X0022:Fsd1
|
UTSW |
17 |
56,302,464 (GRCm39) |
nonsense |
probably null |
|
|
Z1088:Fsd1
|
UTSW |
17 |
56,298,203 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1177:Fsd1
|
UTSW |
17 |
56,303,083 (GRCm39) |
missense |
probably benign |
0.17 |
|
Z1187:Fsd1
|
UTSW |
17 |
56,300,920 (GRCm39) |
missense |
probably benign |
0.09 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGAGCACTGCACAGATACACATGG -3'
(R):5'- TTAGGATACACTGCCGAGAGAGCC -3'
Sequencing Primer
(F):5'- AGATGTCCCAGCCTGACC -3'
(R):5'- TCTGTGAACCTGCCTTGG -3'
|
| Posted On |
2013-11-18 |
Incidental Mutation