Incidental Mutation 'R4335:Fsd2'
ID |
323740 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fsd2
|
Ensembl Gene |
ENSMUSG00000038663 |
Gene Name |
fibronectin type III and SPRY domain containing 2 |
Synonyms |
9830160G03Rik, Spryd1 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4335 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
81184102-81216729 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 81191813 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Arginine
at position 521
(S521R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000047775
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042318]
|
AlphaFold |
Q8BZ52 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000042318
AA Change: S521R
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000047775 Gene: ENSMUSG00000038663 AA Change: S521R
Domain | Start | End | E-Value | Type |
low complexity region
|
102 |
121 |
N/A |
INTRINSIC |
coiled coil region
|
204 |
231 |
N/A |
INTRINSIC |
FN3
|
315 |
400 |
7.34e-9 |
SMART |
FN3
|
412 |
494 |
2e-1 |
SMART |
Pfam:PRY
|
509 |
558 |
8.6e-9 |
PFAM |
Pfam:SPRY
|
564 |
683 |
2.8e-12 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.2%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the FN3/SPRY family of proteins. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca9 |
G |
A |
11: 110,042,843 (GRCm39) |
T402M |
probably damaging |
Het |
Apbb1ip |
G |
A |
2: 22,761,574 (GRCm39) |
|
probably null |
Het |
Armh1 |
A |
T |
4: 117,071,660 (GRCm39) |
I308N |
probably damaging |
Het |
Ceacam5 |
G |
A |
7: 17,486,054 (GRCm39) |
R517Q |
probably benign |
Het |
Clic4 |
C |
T |
4: 134,945,916 (GRCm39) |
S167N |
probably benign |
Het |
Ehbp1l1 |
A |
T |
19: 5,758,797 (GRCm39) |
L1644Q |
probably damaging |
Het |
Erh |
A |
G |
12: 80,689,615 (GRCm39) |
L3P |
probably benign |
Het |
Fbxw7 |
T |
C |
3: 84,879,802 (GRCm39) |
C375R |
probably damaging |
Het |
Fhdc1 |
C |
A |
3: 84,352,133 (GRCm39) |
V1031F |
probably benign |
Het |
Garin2 |
T |
C |
12: 78,759,006 (GRCm39) |
S109P |
possibly damaging |
Het |
Hace1 |
A |
G |
10: 45,586,057 (GRCm39) |
Y865C |
probably damaging |
Het |
Iqca1l |
A |
G |
5: 24,749,368 (GRCm39) |
L710P |
probably damaging |
Het |
Iqcf1 |
G |
A |
9: 106,379,072 (GRCm39) |
R62H |
possibly damaging |
Het |
Kcnv1 |
G |
A |
15: 44,977,840 (GRCm39) |
T66M |
probably damaging |
Het |
Leng8 |
T |
C |
7: 4,150,037 (GRCm39) |
Y781H |
probably damaging |
Het |
Med8 |
G |
T |
4: 118,266,567 (GRCm39) |
|
probably null |
Het |
Myo19 |
G |
A |
11: 84,799,114 (GRCm39) |
A816T |
probably benign |
Het |
Nat8f2 |
A |
G |
6: 85,845,233 (GRCm39) |
L43P |
probably damaging |
Het |
Omd |
A |
C |
13: 49,743,712 (GRCm39) |
D254A |
probably benign |
Het |
Psd2 |
G |
T |
18: 36,140,583 (GRCm39) |
A622S |
probably damaging |
Het |
Rnf207 |
G |
A |
4: 152,400,062 (GRCm39) |
|
probably benign |
Het |
Rsbn1l |
T |
C |
5: 21,113,191 (GRCm39) |
I444V |
probably null |
Het |
Rxfp1 |
A |
G |
3: 79,594,105 (GRCm39) |
|
probably null |
Het |
Selenot |
C |
A |
3: 58,492,722 (GRCm39) |
R70S |
possibly damaging |
Het |
Sox6 |
A |
G |
7: 115,111,959 (GRCm39) |
S557P |
probably benign |
Het |
Sp9 |
G |
A |
2: 73,104,633 (GRCm39) |
V396M |
probably damaging |
Het |
Ston1 |
T |
C |
17: 88,943,125 (GRCm39) |
F177S |
probably damaging |
Het |
Syne2 |
A |
G |
12: 76,074,866 (GRCm39) |
E4602G |
probably damaging |
Het |
Tbc1d19 |
A |
G |
5: 54,029,619 (GRCm39) |
T327A |
possibly damaging |
Het |
Tsga13 |
T |
C |
6: 30,876,980 (GRCm39) |
D179G |
probably damaging |
Het |
Wdr27 |
T |
A |
17: 15,141,018 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Fsd2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01746:Fsd2
|
APN |
7 |
81,202,755 (GRCm39) |
missense |
probably benign |
0.15 |
IGL02012:Fsd2
|
APN |
7 |
81,199,662 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02061:Fsd2
|
APN |
7 |
81,190,172 (GRCm39) |
nonsense |
probably null |
|
IGL02971:Fsd2
|
APN |
7 |
81,198,671 (GRCm39) |
nonsense |
probably null |
|
IGL03207:Fsd2
|
APN |
7 |
81,208,918 (GRCm39) |
missense |
probably benign |
0.28 |
IGL03344:Fsd2
|
APN |
7 |
81,209,657 (GRCm39) |
missense |
probably benign |
0.00 |
R0142:Fsd2
|
UTSW |
7 |
81,209,683 (GRCm39) |
missense |
probably damaging |
0.98 |
R0540:Fsd2
|
UTSW |
7 |
81,194,765 (GRCm39) |
missense |
probably damaging |
1.00 |
R0607:Fsd2
|
UTSW |
7 |
81,194,765 (GRCm39) |
missense |
probably damaging |
1.00 |
R0846:Fsd2
|
UTSW |
7 |
81,190,145 (GRCm39) |
missense |
probably benign |
0.00 |
R0863:Fsd2
|
UTSW |
7 |
81,191,913 (GRCm39) |
missense |
possibly damaging |
0.47 |
R1172:Fsd2
|
UTSW |
7 |
81,209,518 (GRCm39) |
missense |
probably benign |
|
R1173:Fsd2
|
UTSW |
7 |
81,209,518 (GRCm39) |
missense |
probably benign |
|
R1175:Fsd2
|
UTSW |
7 |
81,209,518 (GRCm39) |
missense |
probably benign |
|
R1438:Fsd2
|
UTSW |
7 |
81,198,621 (GRCm39) |
missense |
probably benign |
0.13 |
R1456:Fsd2
|
UTSW |
7 |
81,209,339 (GRCm39) |
nonsense |
probably null |
|
R1717:Fsd2
|
UTSW |
7 |
81,184,857 (GRCm39) |
missense |
probably benign |
0.23 |
R1987:Fsd2
|
UTSW |
7 |
81,209,407 (GRCm39) |
missense |
possibly damaging |
0.89 |
R2698:Fsd2
|
UTSW |
7 |
81,195,608 (GRCm39) |
missense |
probably damaging |
0.99 |
R4108:Fsd2
|
UTSW |
7 |
81,194,715 (GRCm39) |
missense |
probably benign |
0.01 |
R4165:Fsd2
|
UTSW |
7 |
81,195,608 (GRCm39) |
missense |
probably damaging |
0.99 |
R4570:Fsd2
|
UTSW |
7 |
81,209,518 (GRCm39) |
missense |
probably benign |
|
R4707:Fsd2
|
UTSW |
7 |
81,209,428 (GRCm39) |
missense |
probably damaging |
1.00 |
R4741:Fsd2
|
UTSW |
7 |
81,201,643 (GRCm39) |
critical splice donor site |
probably null |
|
R4863:Fsd2
|
UTSW |
7 |
81,202,712 (GRCm39) |
missense |
probably null |
0.91 |
R5281:Fsd2
|
UTSW |
7 |
81,202,733 (GRCm39) |
missense |
probably benign |
0.15 |
R5898:Fsd2
|
UTSW |
7 |
81,186,975 (GRCm39) |
missense |
probably damaging |
1.00 |
R6812:Fsd2
|
UTSW |
7 |
81,184,837 (GRCm39) |
missense |
probably benign |
0.00 |
R7367:Fsd2
|
UTSW |
7 |
81,184,928 (GRCm39) |
missense |
probably damaging |
1.00 |
R7976:Fsd2
|
UTSW |
7 |
81,209,629 (GRCm39) |
missense |
probably benign |
0.00 |
R8717:Fsd2
|
UTSW |
7 |
81,190,090 (GRCm39) |
missense |
probably benign |
0.30 |
R8928:Fsd2
|
UTSW |
7 |
81,209,354 (GRCm39) |
missense |
probably benign |
|
R8987:Fsd2
|
UTSW |
7 |
81,209,766 (GRCm39) |
missense |
probably benign |
0.39 |
R9678:Fsd2
|
UTSW |
7 |
81,209,449 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Fsd2
|
UTSW |
7 |
81,202,940 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Fsd2
|
UTSW |
7 |
81,209,500 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Predicted Primers |
PCR Primer
(F):5'- TGGGAATGTGGTAAAACCGTC -3'
(R):5'- ATCTGAGCGTCTTGGCTGAG -3'
Sequencing Primer
(F):5'- TCAGCCTGGTCTACAAAGTG -3'
(R):5'- CTGTGGGTCAGAGGACAGTG -3'
|
Posted On |
2015-06-24 |