Incidental Mutation 'R7077:Fsd1'
| ID |
549304 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fsd1
|
| Ensembl Gene |
ENSMUSG00000011589 |
| Gene Name |
fibronectin type 3 and SPRY domain-containing protein |
| Synonyms |
|
| MMRRC Submission |
045172-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.306)
|
| Stock # |
R7077 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
56293509-56303881 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 56300876 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 245
(R245H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000011733
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000011733]
[ENSMUST00000043785]
|
| AlphaFold |
Q7TPM6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000011733
AA Change: R245H
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000011733
Gene: ENSMUSG00000011589
AA Change: R245H
| 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 |
|
| Meta Mutation Damage Score |
0.8096 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
98% (54/55) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam21 |
C |
T |
12: 81,605,893 (GRCm39) |
C623Y |
probably damaging |
Het |
| Ago3 |
T |
C |
4: 126,265,325 (GRCm39) |
K322R |
probably null |
Het |
| Ankrd17 |
T |
C |
5: 90,433,723 (GRCm39) |
H682R |
possibly damaging |
Het |
| Aoah |
A |
G |
13: 21,094,276 (GRCm39) |
D187G |
probably damaging |
Het |
| Arhgap17 |
T |
C |
7: 122,879,231 (GRCm39) |
D840G |
unknown |
Het |
| AW551984 |
C |
T |
9: 39,502,723 (GRCm39) |
V650I |
probably benign |
Het |
| Bok |
T |
A |
1: 93,616,911 (GRCm39) |
Y86N |
probably damaging |
Het |
| Ccdc146 |
T |
A |
5: 21,510,272 (GRCm39) |
N580I |
possibly damaging |
Het |
| Ccng2 |
T |
C |
5: 93,417,199 (GRCm39) |
S72P |
possibly damaging |
Het |
| Cfap74 |
T |
G |
4: 155,540,134 (GRCm39) |
I977S |
unknown |
Het |
| Cobl |
T |
C |
11: 12,203,441 (GRCm39) |
N1087S |
probably benign |
Het |
| Cyp21a1 |
C |
A |
17: 35,021,333 (GRCm39) |
R346L |
probably damaging |
Het |
| Eif4a1 |
A |
C |
11: 69,561,490 (GRCm39) |
F52L |
probably damaging |
Het |
| Eif4ebp2 |
A |
C |
10: 61,269,580 (GRCm39) |
I120S |
probably damaging |
Het |
| Enpp2 |
A |
C |
15: 54,764,787 (GRCm39) |
D146E |
probably benign |
Het |
| Exosc9 |
T |
C |
3: 36,607,205 (GRCm39) |
Y30H |
probably damaging |
Het |
| Fam117a |
G |
A |
11: 95,268,498 (GRCm39) |
G300S |
probably benign |
Het |
| Focad |
C |
A |
4: 88,328,914 (GRCm39) |
A1709E |
unknown |
Het |
| Fsip2 |
T |
C |
2: 82,813,496 (GRCm39) |
F3272L |
probably benign |
Het |
| Gcnt2 |
G |
A |
13: 41,013,896 (GRCm39) |
M22I |
probably benign |
Het |
| Gjd4 |
T |
C |
18: 9,280,928 (GRCm39) |
E50G |
probably damaging |
Het |
| Gm10375 |
G |
T |
14: 43,840,427 (GRCm39) |
T162K |
probably benign |
Het |
| Gm10837 |
C |
G |
14: 122,728,142 (GRCm39) |
A6G |
unknown |
Het |
| Gm4924 |
T |
C |
10: 82,215,057 (GRCm39) |
F952L |
unknown |
Het |
| Heatr1 |
T |
C |
13: 12,433,045 (GRCm39) |
F1132L |
possibly damaging |
Het |
| Hnrnpu |
A |
G |
1: 178,159,756 (GRCm39) |
Y442H |
unknown |
Het |
| Hp1bp3 |
C |
A |
4: 137,966,929 (GRCm39) |
T408N |
probably damaging |
Het |
| Htra3 |
A |
G |
5: 35,825,660 (GRCm39) |
V198A |
probably damaging |
Het |
| Katnal1 |
T |
C |
5: 148,828,547 (GRCm39) |
T300A |
probably benign |
Het |
| Lipo5 |
G |
T |
19: 33,445,170 (GRCm39) |
P133Q |
|
Het |
| Lrp1b |
A |
T |
2: 41,660,858 (GRCm39) |
H197Q |
|
Het |
| Mdc1 |
C |
A |
17: 36,156,839 (GRCm39) |
A82D |
probably damaging |
Het |
| Mstn |
A |
T |
1: 53,103,408 (GRCm39) |
D248V |
probably benign |
Het |
| Myo1d |
C |
T |
11: 80,565,460 (GRCm39) |
E426K |
probably damaging |
Het |
| Ola1 |
G |
A |
2: 72,972,308 (GRCm39) |
T221I |
probably damaging |
Het |
| Or52z1 |
A |
G |
7: 103,436,593 (GRCm39) |
I297T |
probably damaging |
Het |
| Or5t7 |
T |
C |
2: 86,507,236 (GRCm39) |
Y147C |
possibly damaging |
Het |
| Or7e166 |
T |
A |
9: 19,624,428 (GRCm39) |
S102T |
probably benign |
Het |
| Or8c20 |
T |
A |
9: 38,261,266 (GRCm39) |
Y290N |
probably damaging |
Het |
| Phldb1 |
T |
C |
9: 44,623,201 (GRCm39) |
T618A |
possibly damaging |
Het |
| Pkd1 |
T |
G |
17: 24,810,093 (GRCm39) |
W3565G |
probably damaging |
Het |
| Prl3a1 |
A |
T |
13: 27,460,086 (GRCm39) |
N190I |
probably benign |
Het |
| Ptk2 |
G |
A |
15: 73,093,658 (GRCm39) |
P854S |
possibly damaging |
Het |
| Ptpn11 |
C |
T |
5: 121,281,633 (GRCm39) |
R484Q |
probably benign |
Het |
| Rapgef4 |
T |
C |
2: 72,071,820 (GRCm39) |
M900T |
probably damaging |
Het |
| Slc1a2 |
A |
T |
2: 102,607,855 (GRCm39) |
D501V |
probably benign |
Het |
| Smarcd3 |
G |
T |
5: 24,799,960 (GRCm39) |
A270D |
probably damaging |
Het |
| Srgap2 |
A |
G |
1: 131,272,187 (GRCm39) |
M33T |
|
Het |
| Tle1 |
G |
C |
4: 72,076,612 (GRCm39) |
P139A |
probably benign |
Het |
| Tmem161b |
C |
A |
13: 84,370,537 (GRCm39) |
|
probably benign |
Het |
| Tsbp1 |
C |
A |
17: 34,659,856 (GRCm39) |
T93N |
possibly damaging |
Het |
| Zfp658 |
T |
A |
7: 43,223,413 (GRCm39) |
S563T |
probably benign |
Het |
| Zswim9 |
G |
A |
7: 12,993,679 (GRCm39) |
R826C |
probably 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 |
|
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 |
|
|
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'- AGAAGGCGAGACTTGGTGTC -3'
(R):5'- AGTTCCCTAGCAGCTAGAGTG -3'
Sequencing Primer
(F):5'- ACCTGCTGCTCTTACAGAGGAC -3'
(R):5'- CTAGCAGCTAGAGTGACCAGGTC -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation