Incidental Mutation 'R9678:Fsd2'
| ID |
735770 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9678 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
81184102-81216729 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 81209449 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 131
(Y131C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047775
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042318]
|
| AlphaFold |
Q8BZ52 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000042318
AA Change: Y131C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000047775
Gene: ENSMUSG00000038663
AA Change: Y131C
| 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: 99.8%
- 3x: 99.7%
- 10x: 99.3%
- 20x: 98.6%
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgre1 |
A |
G |
17: 57,750,997 (GRCm39) |
N557S |
probably damaging |
Het |
| Atr |
C |
T |
9: 95,792,610 (GRCm39) |
A1644V |
possibly damaging |
Het |
| C4b |
A |
G |
17: 34,960,763 (GRCm39) |
|
probably null |
Het |
| Cdca2 |
A |
T |
14: 67,937,778 (GRCm39) |
C292S |
unknown |
Het |
| Cdkn1c |
T |
C |
7: 143,014,383 (GRCm39) |
D21G |
probably benign |
Het |
| Clec12a |
C |
A |
6: 129,330,628 (GRCm39) |
T70K |
probably benign |
Het |
| Crnkl1 |
A |
T |
2: 145,761,875 (GRCm39) |
S561T |
probably benign |
Het |
| Dock4 |
TGTGCCGGTGCCGGTGCCGGTGCCGGTGCC |
TGTGCCGGTGCCGGTGCCGGTGCCGGTGCCGGTGCC |
12: 40,894,379 (GRCm39) |
|
probably benign |
Het |
| Dock4 |
CGGTGC |
CGGTGCGGGTGC |
12: 40,894,396 (GRCm39) |
|
probably benign |
Het |
| Dock4 |
TGCCGG |
TGCCGGCGCCGG |
12: 40,894,387 (GRCm39) |
|
probably benign |
Het |
| Ehbp1 |
T |
C |
11: 22,101,108 (GRCm39) |
D274G |
possibly damaging |
Het |
| Gm10153 |
C |
A |
7: 141,743,723 (GRCm39) |
C115F |
unknown |
Het |
| Gm10376 |
A |
T |
14: 42,873,024 (GRCm39) |
M1K |
probably null |
Het |
| Gm10837 |
A |
T |
14: 122,728,438 (GRCm39) |
K105* |
probably null |
Het |
| H3f3a |
A |
G |
1: 180,637,680 (GRCm39) |
|
probably null |
Het |
| Igkv10-96 |
T |
A |
6: 68,609,224 (GRCm39) |
M24L |
probably benign |
Het |
| Inpp4a |
T |
C |
1: 37,405,952 (GRCm39) |
S157P |
probably damaging |
Het |
| Meaf6 |
A |
G |
4: 124,996,689 (GRCm39) |
N133S |
possibly damaging |
Het |
| Nphp3 |
T |
C |
9: 103,900,686 (GRCm39) |
V648A |
possibly damaging |
Het |
| Or1i2 |
C |
T |
10: 78,447,717 (GRCm39) |
G253R |
probably damaging |
Het |
| Or5k17 |
A |
G |
16: 58,746,640 (GRCm39) |
M98T |
probably benign |
Het |
| Parm1 |
A |
G |
5: 91,742,144 (GRCm39) |
T171A |
possibly damaging |
Het |
| Pik3r1 |
G |
T |
13: 101,839,289 (GRCm39) |
R188S |
probably damaging |
Het |
| Rbsn |
T |
C |
6: 92,188,619 (GRCm39) |
H32R |
probably damaging |
Het |
| Sdk2 |
G |
T |
11: 113,685,789 (GRCm39) |
Y1910* |
probably null |
Het |
| Slfn8 |
T |
C |
11: 82,907,723 (GRCm39) |
I273M |
probably damaging |
Het |
| Sult1a1 |
C |
T |
7: 126,273,536 (GRCm39) |
V132I |
probably benign |
Het |
| Tagln3 |
T |
A |
16: 45,544,605 (GRCm39) |
Y22F |
probably damaging |
Het |
| Tenm4 |
A |
G |
7: 96,386,619 (GRCm39) |
E575G |
possibly damaging |
Het |
| Trim24 |
T |
C |
6: 37,942,449 (GRCm39) |
V987A |
probably damaging |
Het |
| Trpm7 |
C |
A |
2: 126,686,290 (GRCm39) |
V313F |
probably damaging |
Het |
| Trub1 |
A |
T |
19: 57,446,549 (GRCm39) |
N93I |
probably benign |
Het |
| Ugdh |
A |
G |
5: 65,581,470 (GRCm39) |
V60A |
possibly damaging |
Het |
| Ugt2b5 |
A |
C |
5: 87,273,186 (GRCm39) |
D493E |
probably damaging |
Het |
| Utrn |
G |
T |
10: 12,615,159 (GRCm39) |
D337E |
probably benign |
Het |
| Vmn2r14 |
A |
G |
5: 109,364,041 (GRCm39) |
L625P |
probably damaging |
Het |
| Vmn2r89 |
A |
G |
14: 51,693,511 (GRCm39) |
D287G |
probably benign |
Het |
| Xirp2 |
A |
T |
2: 67,339,788 (GRCm39) |
E676D |
possibly damaging |
Het |
| Zbbx |
A |
G |
3: 75,046,841 (GRCm39) |
L26P |
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 |
|
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 |
|
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 |
|
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'- TGTCCACCTCCCTGAGACATAC -3'
(R):5'- TGAACACAGACTGGGGACTC -3'
Sequencing Primer
(F):5'- CACTCTCCAGACAAAGATGGAAGG -3'
(R):5'- GACTCTGGGGTATCCTTCTTACG -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation