Incidental Mutation 'R0846:Fsd2'
| ID |
77373 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fsd2
|
| Ensembl Gene |
ENSMUSG00000038663 |
| Gene Name |
fibronectin type III and SPRY domain containing 2 |
| Synonyms |
9830160G03Rik, Spryd1 |
| MMRRC Submission |
039025-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0846 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
81184102-81216729 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 81190145 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 546
(I546V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047775
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042318]
|
| AlphaFold |
Q8BZ52 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042318
AA Change: I546V
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000047775
Gene: ENSMUSG00000038663
AA Change: I546V
| 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: 99.6%
- 3x: 98.8%
- 10x: 96.2%
- 20x: 90.2%
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aak1 |
T |
C |
6: 86,936,071 (GRCm39) |
|
probably benign |
Het |
| Adgrv1 |
G |
A |
13: 81,627,861 (GRCm39) |
R3667* |
probably null |
Het |
| Adh5 |
T |
G |
3: 138,156,835 (GRCm39) |
C174G |
probably damaging |
Het |
| Cap1 |
A |
C |
4: 122,756,692 (GRCm39) |
|
probably null |
Het |
| Caps2 |
G |
A |
10: 112,051,490 (GRCm39) |
R587H |
probably damaging |
Het |
| Ccn1 |
T |
A |
3: 145,353,525 (GRCm39) |
M346L |
possibly damaging |
Het |
| Cdo1 |
A |
G |
18: 46,848,812 (GRCm39) |
V142A |
probably damaging |
Het |
| Chuk |
T |
C |
19: 44,079,467 (GRCm39) |
T345A |
probably damaging |
Het |
| Cobll1 |
T |
C |
2: 64,932,409 (GRCm39) |
|
probably null |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Cop1 |
T |
C |
1: 159,147,386 (GRCm39) |
Y571H |
probably benign |
Het |
| Cstpp1 |
T |
A |
2: 91,214,182 (GRCm39) |
T58S |
probably damaging |
Het |
| Dcc |
A |
G |
18: 71,959,283 (GRCm39) |
V163A |
probably benign |
Het |
| Dnah11 |
G |
T |
12: 117,897,585 (GRCm39) |
N3548K |
probably damaging |
Het |
| Ehhadh |
G |
T |
16: 21,592,247 (GRCm39) |
S152* |
probably null |
Het |
| Fitm2 |
T |
C |
2: 163,311,734 (GRCm39) |
T160A |
probably benign |
Het |
| Fos |
C |
T |
12: 85,522,457 (GRCm39) |
T162I |
probably damaging |
Het |
| Gal3st2c |
T |
C |
1: 93,934,669 (GRCm39) |
V19A |
possibly damaging |
Het |
| Gorasp2 |
T |
A |
2: 70,521,298 (GRCm39) |
S443T |
probably benign |
Het |
| Klf4 |
G |
A |
4: 55,530,191 (GRCm39) |
H307Y |
probably damaging |
Het |
| Ldc1 |
A |
C |
4: 130,115,417 (GRCm39) |
S44A |
probably benign |
Het |
| Mark3 |
A |
G |
12: 111,593,658 (GRCm39) |
D230G |
possibly damaging |
Het |
| Mnat1 |
T |
G |
12: 73,170,706 (GRCm39) |
|
probably null |
Het |
| Or5m9b |
T |
C |
2: 85,905,510 (GRCm39) |
L142P |
possibly damaging |
Het |
| Otogl |
T |
G |
10: 107,608,157 (GRCm39) |
T2073P |
probably benign |
Het |
| Pdxdc1 |
A |
C |
16: 13,672,257 (GRCm39) |
|
probably null |
Het |
| Pkhd1l1 |
T |
C |
15: 44,358,993 (GRCm39) |
S401P |
probably damaging |
Het |
| Polr1a |
T |
C |
6: 71,901,627 (GRCm39) |
Y262H |
probably damaging |
Het |
| Pramel19 |
A |
T |
4: 101,798,447 (GRCm39) |
K139N |
probably benign |
Het |
| Scamp4 |
T |
C |
10: 80,450,537 (GRCm39) |
F205L |
probably benign |
Het |
| Scn1a |
C |
T |
2: 66,155,099 (GRCm39) |
S620N |
probably benign |
Het |
| Scn7a |
C |
T |
2: 66,527,944 (GRCm39) |
D849N |
possibly damaging |
Het |
| Slc17a8 |
T |
C |
10: 89,442,596 (GRCm39) |
D79G |
possibly damaging |
Het |
| Sync |
A |
G |
4: 129,187,897 (GRCm39) |
S310G |
probably benign |
Het |
| Tbc1d9b |
A |
C |
11: 50,062,148 (GRCm39) |
I1219L |
probably benign |
Het |
| Vmn1r47 |
T |
A |
6: 89,999,657 (GRCm39) |
M263K |
probably benign |
Het |
| Zfp773 |
A |
T |
7: 7,135,691 (GRCm39) |
C302S |
probably damaging |
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 |
|
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 |
|
R4335:Fsd2
|
UTSW |
7 |
81,191,813 (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'- TGGCTATATCCCATAGTGCCCACAG -3'
(R):5'- AGAGAGGTGAGTTGCTCAGTCTGAC -3'
Sequencing Primer
(F):5'- ATAGTGCCCACAGCCTGG -3'
(R):5'- gggctaagggagagaagatatac -3'
|
| Posted On |
2013-10-16 |
Incidental Mutation