Incidental Mutation 'R3950:Fsd1'
| ID |
307903 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fsd1
|
| Ensembl Gene |
ENSMUSG00000011589 |
| Gene Name |
fibronectin type 3 and SPRY domain-containing protein |
| Synonyms |
|
| MMRRC Submission |
040930-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.317)
|
| Stock # |
R3950 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
56293509-56303881 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
G to A
at 56302517 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000011733
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000011733]
[ENSMUST00000043785]
|
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043785
|
| SMART Domains |
Protein: ENSMUSP00000038130
Gene: ENSMUSG00000038781
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
20 |
120 |
1.22e-3 |
SMART |
|
SH2
|
150 |
239 |
2.58e-3 |
SMART |
|
low complexity region
|
278 |
297 |
N/A |
INTRINSIC |
|
low complexity region
|
302 |
312 |
N/A |
INTRINSIC |
|
low complexity region
|
343 |
365 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932414N04Rik |
T |
C |
2: 68,494,747 (GRCm39) |
|
probably null |
Het |
| Ahnak2 |
A |
T |
12: 112,749,409 (GRCm39) |
I186N |
probably damaging |
Het |
| Appbp2 |
A |
G |
11: 85,085,532 (GRCm39) |
I458T |
probably damaging |
Het |
| Arhgef25 |
T |
C |
10: 127,021,013 (GRCm39) |
Y291C |
probably damaging |
Het |
| Ate1 |
T |
C |
7: 130,069,022 (GRCm39) |
Y415C |
probably damaging |
Het |
| B4galt4 |
G |
T |
16: 38,588,384 (GRCm39) |
A72S |
probably benign |
Het |
| C3 |
T |
C |
17: 57,532,286 (GRCm39) |
R178G |
probably benign |
Het |
| Cdh23 |
T |
C |
10: 60,493,105 (GRCm39) |
Y3C |
probably benign |
Het |
| Col11a1 |
T |
C |
3: 113,915,094 (GRCm39) |
|
probably null |
Het |
| Col22a1 |
A |
G |
15: 71,849,207 (GRCm39) |
F294L |
possibly damaging |
Het |
| Dera |
A |
G |
6: 137,814,118 (GRCm39) |
Y100C |
probably damaging |
Het |
| Dync2h1 |
A |
T |
9: 7,112,061 (GRCm39) |
Y276* |
probably null |
Het |
| Eea1 |
A |
T |
10: 95,877,996 (GRCm39) |
N1389I |
probably damaging |
Het |
| Epha4 |
A |
T |
1: 77,376,353 (GRCm39) |
Y509N |
probably damaging |
Het |
| Fat3 |
G |
A |
9: 15,909,567 (GRCm39) |
S2145F |
probably damaging |
Het |
| Fezf1 |
T |
A |
6: 23,247,419 (GRCm39) |
K219* |
probably null |
Het |
| Haspin |
A |
G |
11: 73,027,221 (GRCm39) |
Y623H |
probably damaging |
Het |
| Hsd3b1 |
C |
T |
3: 98,763,454 (GRCm39) |
V56M |
possibly damaging |
Het |
| Hyou1 |
C |
T |
9: 44,296,524 (GRCm39) |
T483I |
probably damaging |
Het |
| Kdm2a |
A |
G |
19: 4,393,260 (GRCm39) |
L365S |
possibly damaging |
Het |
| Kdm6b |
G |
T |
11: 69,296,441 (GRCm39) |
P609T |
probably damaging |
Het |
| Klhl18 |
T |
A |
9: 110,257,970 (GRCm39) |
Y490F |
probably damaging |
Het |
| Ky |
C |
T |
9: 102,419,627 (GRCm39) |
Q545* |
probably null |
Het |
| L1td1 |
T |
C |
4: 98,625,590 (GRCm39) |
L595P |
probably benign |
Het |
| Map3k20 |
T |
G |
2: 72,268,644 (GRCm39) |
I550M |
probably damaging |
Het |
| Mug1 |
T |
A |
6: 121,855,489 (GRCm39) |
V941E |
probably damaging |
Het |
| Ndst1 |
T |
C |
18: 60,830,211 (GRCm39) |
N633S |
probably benign |
Het |
| Ninl |
A |
T |
2: 150,794,408 (GRCm39) |
I740K |
possibly damaging |
Het |
| Npepl1 |
A |
G |
2: 173,962,906 (GRCm39) |
N431D |
probably damaging |
Het |
| Or5w10 |
T |
C |
2: 87,375,409 (GRCm39) |
T160A |
probably damaging |
Het |
| Pacs2 |
T |
C |
12: 113,024,733 (GRCm39) |
S408P |
probably damaging |
Het |
| Pard6b |
C |
T |
2: 167,941,114 (GRCm39) |
T367I |
probably damaging |
Het |
| Pcdhga7 |
A |
G |
18: 37,849,568 (GRCm39) |
E525G |
probably damaging |
Het |
| Pctp |
A |
G |
11: 89,878,144 (GRCm39) |
I130T |
probably benign |
Het |
| Pcx |
C |
T |
19: 4,667,995 (GRCm39) |
H506Y |
probably benign |
Het |
| Pdhx |
A |
G |
2: 102,865,586 (GRCm39) |
S199P |
probably damaging |
Het |
| Pdia2 |
C |
A |
17: 26,416,590 (GRCm39) |
|
probably null |
Het |
| Pif1 |
C |
A |
9: 65,499,116 (GRCm39) |
N445K |
probably damaging |
Het |
| Prickle4 |
T |
C |
17: 47,999,507 (GRCm39) |
K349E |
probably benign |
Het |
| Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
| Ptpdc1 |
A |
T |
13: 48,742,670 (GRCm39) |
M173K |
probably damaging |
Het |
| Rb1 |
A |
G |
14: 73,500,102 (GRCm39) |
L515P |
probably damaging |
Het |
| Rcvrn |
A |
G |
11: 67,590,877 (GRCm39) |
K154E |
probably damaging |
Het |
| Ros1 |
C |
T |
10: 51,942,484 (GRCm39) |
V2059I |
probably damaging |
Het |
| Rtn4ip1 |
T |
A |
10: 43,785,893 (GRCm39) |
|
probably null |
Het |
| Sema5a |
T |
C |
15: 32,689,484 (GRCm39) |
Y1050H |
probably damaging |
Het |
| Slc25a28 |
C |
T |
19: 43,652,708 (GRCm39) |
V318I |
probably benign |
Het |
| Srek1 |
G |
A |
13: 103,881,403 (GRCm39) |
R408W |
unknown |
Het |
| Synrg |
C |
T |
11: 83,880,641 (GRCm39) |
T444I |
probably damaging |
Het |
| Ticrr |
T |
C |
7: 79,331,817 (GRCm39) |
L776S |
probably damaging |
Het |
| Tmem127 |
T |
C |
2: 127,090,577 (GRCm39) |
L31P |
probably damaging |
Het |
| Tmprss15 |
T |
A |
16: 78,870,074 (GRCm39) |
T190S |
probably benign |
Het |
| Trip10 |
T |
A |
17: 57,560,411 (GRCm39) |
|
probably null |
Het |
| Ttc6 |
A |
G |
12: 57,696,292 (GRCm39) |
Y31C |
probably damaging |
Het |
| Unc80 |
A |
T |
1: 66,661,729 (GRCm39) |
H1718L |
possibly damaging |
Het |
| Zbtb38 |
A |
G |
9: 96,569,599 (GRCm39) |
F495S |
probably damaging |
Het |
| Zfp280d |
G |
T |
9: 72,203,301 (GRCm39) |
Q16H |
possibly damaging |
Het |
| Zfp521 |
A |
G |
18: 13,979,403 (GRCm39) |
S337P |
probably damaging |
Het |
| Zswim9 |
T |
A |
7: 12,995,503 (GRCm39) |
T218S |
possibly damaging |
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 |
|
|
R1077:Fsd1
|
UTSW |
17 |
56,297,542 (GRCm39) |
critical splice donor 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 |
|
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'- TGGCCCCAGCATTCATGTTC -3'
(R):5'- TTCCTCAGCTGGAAAACACC -3'
Sequencing Primer
(F):5'- ATTCATGTTCCGCCTGGACG -3'
(R):5'- TGAGCTAACGCGCCAGATG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation