Incidental Mutation 'R4504:Fndc8'
| ID |
397253 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fndc8
|
| Ensembl Gene |
ENSMUSG00000018844 |
| Gene Name |
fibronectin type III domain containing 8 |
| Synonyms |
4930466G16Rik |
| MMRRC Submission |
041755-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.050)
|
| Stock # |
R4504 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
82782971-82791563 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 82783226 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 69
(M69K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000018988
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018985]
[ENSMUST00000018988]
[ENSMUST00000021033]
[ENSMUST00000092844]
[ENSMUST00000100718]
[ENSMUST00000135963]
[ENSMUST00000146053]
|
| AlphaFold |
Q9D2H8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000018985
|
| SMART Domains |
Protein: ENSMUSP00000018985
Gene: ENSMUSG00000018841
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2KZ3|A
|
1 |
83 |
2e-27 |
PDB |
|
AAA
|
99 |
274 |
1.5e-6 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000018988
AA Change: M69K
PolyPhen 2
Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000018988
Gene: ENSMUSG00000018844
AA Change: M69K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
159 |
170 |
N/A |
INTRINSIC |
|
FN3
|
176 |
264 |
9.48e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021033
|
| SMART Domains |
Protein: ENSMUSP00000021033
Gene: ENSMUSG00000018841
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
28 |
40 |
N/A |
INTRINSIC |
|
low complexity region
|
49 |
59 |
N/A |
INTRINSIC |
|
Pfam:Rad51
|
64 |
249 |
3e-15 |
PFAM |
|
Pfam:AAA_25
|
69 |
200 |
2e-12 |
PFAM |
|
Pfam:KaiC
|
82 |
148 |
1.4e-10 |
PFAM |
|
Pfam:AAA_19
|
93 |
168 |
6.7e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000092844
|
| SMART Domains |
Protein: ENSMUSP00000090520
Gene: ENSMUSG00000018841
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
28 |
40 |
N/A |
INTRINSIC |
|
low complexity region
|
49 |
59 |
N/A |
INTRINSIC |
|
Pfam:Rad51
|
66 |
130 |
2.4e-7 |
PFAM |
|
Pfam:KaiC
|
82 |
129 |
8e-8 |
PFAM |
|
Pfam:Rad51
|
115 |
274 |
8.5e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000100718
|
| SMART Domains |
Protein: ENSMUSP00000098284
Gene: ENSMUSG00000018841
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2KZ3|A
|
1 |
83 |
5e-30 |
PDB |
|
SCOP:d1b22a_
|
10 |
48 |
2e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135963
|
| SMART Domains |
Protein: ENSMUSP00000122477
Gene: ENSMUSG00000018841
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
28 |
40 |
N/A |
INTRINSIC |
|
low complexity region
|
49 |
59 |
N/A |
INTRINSIC |
|
Pfam:Rad51
|
64 |
219 |
7e-18 |
PFAM |
|
Pfam:AAA_25
|
69 |
226 |
2.6e-15 |
PFAM |
|
Pfam:KaiC
|
82 |
216 |
5.7e-12 |
PFAM |
|
Pfam:AAA_19
|
93 |
168 |
1.4e-7 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146053
|
| SMART Domains |
Protein: ENSMUSP00000117401
Gene: ENSMUSG00000018841
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2KZ3|A
|
1 |
48 |
1e-13 |
PDB |
|
SCOP:d1b22a_
|
10 |
48 |
7e-5 |
SMART |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
100% (45/45) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930503E14Rik |
A |
G |
14: 44,407,899 (GRCm39) |
S45P |
probably damaging |
Het |
| Adgrg4 |
C |
T |
X: 55,961,802 (GRCm39) |
R1124C |
possibly damaging |
Het |
| Anxa13 |
T |
C |
15: 58,228,052 (GRCm39) |
|
noncoding transcript |
Het |
| Arhgap32 |
C |
A |
9: 32,093,135 (GRCm39) |
|
probably null |
Het |
| Carm1 |
T |
C |
9: 21,480,822 (GRCm39) |
F99L |
probably damaging |
Het |
| Dennd1b |
A |
G |
1: 139,013,665 (GRCm39) |
E253G |
possibly damaging |
Het |
| Dsg4 |
A |
G |
18: 20,594,493 (GRCm39) |
I541V |
probably benign |
Het |
| Dstyk |
A |
G |
1: 132,362,127 (GRCm39) |
T186A |
possibly damaging |
Het |
| Ear1 |
A |
T |
14: 44,056,721 (GRCm39) |
V49D |
probably benign |
Het |
| Epha10 |
A |
G |
4: 124,809,480 (GRCm39) |
|
probably benign |
Het |
| Fbh1 |
A |
G |
2: 11,753,828 (GRCm39) |
V838A |
possibly damaging |
Het |
| Golga1 |
T |
C |
2: 38,913,466 (GRCm39) |
I482V |
probably benign |
Het |
| Hivep3 |
G |
A |
4: 119,590,990 (GRCm39) |
|
probably benign |
Het |
| Igkv13-85 |
A |
G |
6: 68,907,356 (GRCm39) |
F82L |
probably damaging |
Het |
| Itih1 |
G |
A |
14: 30,657,842 (GRCm39) |
R410C |
probably damaging |
Het |
| Kcnc2 |
T |
C |
10: 112,291,699 (GRCm39) |
W296R |
probably damaging |
Het |
| Kcnq3 |
A |
T |
15: 65,867,191 (GRCm39) |
Y817* |
probably null |
Het |
| Kif3b |
T |
C |
2: 153,165,564 (GRCm39) |
|
probably null |
Het |
| Krtcap2 |
A |
G |
3: 89,153,563 (GRCm39) |
|
probably benign |
Het |
| Lhx5 |
C |
A |
5: 120,578,073 (GRCm39) |
H298N |
possibly damaging |
Het |
| Notch1 |
A |
G |
2: 26,362,189 (GRCm39) |
V1022A |
probably benign |
Het |
| Npc1l1 |
A |
G |
11: 6,178,741 (GRCm39) |
L223S |
possibly damaging |
Het |
| Or11m3 |
T |
C |
15: 98,396,015 (GRCm39) |
F221L |
probably benign |
Het |
| Or4c10 |
C |
T |
2: 89,760,695 (GRCm39) |
P181S |
possibly damaging |
Het |
| Or8a1b |
C |
T |
9: 37,622,760 (GRCm39) |
V272I |
probably benign |
Het |
| Pbxip1 |
A |
G |
3: 89,353,690 (GRCm39) |
D281G |
possibly damaging |
Het |
| Pcdhga8 |
G |
C |
18: 37,949,816 (GRCm39) |
V411L |
probably damaging |
Het |
| Pcsk5 |
C |
T |
19: 17,429,319 (GRCm39) |
C1553Y |
probably damaging |
Het |
| Pdgfc |
A |
C |
3: 81,082,298 (GRCm39) |
M164L |
probably benign |
Het |
| Pdzd8 |
T |
C |
19: 59,333,880 (GRCm39) |
Y47C |
probably damaging |
Het |
| Pip5k1c |
T |
A |
10: 81,150,945 (GRCm39) |
I633N |
probably damaging |
Het |
| Pkn1 |
G |
A |
8: 84,419,556 (GRCm39) |
R16* |
probably null |
Het |
| Pole2 |
A |
G |
12: 69,269,242 (GRCm39) |
V85A |
probably benign |
Het |
| Ppp4c |
A |
C |
7: 126,386,637 (GRCm39) |
L150R |
probably damaging |
Het |
| Pramel25 |
G |
C |
4: 143,520,553 (GRCm39) |
E102Q |
probably benign |
Het |
| Ric8a |
A |
G |
7: 140,438,429 (GRCm39) |
I223V |
probably benign |
Het |
| Rnf144a |
T |
A |
12: 26,377,302 (GRCm39) |
R92S |
probably benign |
Het |
| Sbno2 |
C |
A |
10: 79,896,326 (GRCm39) |
R898L |
possibly damaging |
Het |
| Scnn1b |
A |
C |
7: 121,511,698 (GRCm39) |
N370T |
probably damaging |
Het |
| Taar3 |
A |
G |
10: 23,825,471 (GRCm39) |
I6V |
possibly damaging |
Het |
| Vps13a |
T |
C |
19: 16,672,866 (GRCm39) |
E1302G |
possibly damaging |
Het |
|
| Other mutations in Fndc8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02392:Fndc8
|
APN |
11 |
82,789,429 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0066:Fndc8
|
UTSW |
11 |
82,788,398 (GRCm39) |
missense |
probably benign |
0.38 |
|
R0066:Fndc8
|
UTSW |
11 |
82,788,398 (GRCm39) |
missense |
probably benign |
0.38 |
|
R1827:Fndc8
|
UTSW |
11 |
82,790,355 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2179:Fndc8
|
UTSW |
11 |
82,789,580 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5401:Fndc8
|
UTSW |
11 |
82,788,676 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R5889:Fndc8
|
UTSW |
11 |
82,789,555 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5960:Fndc8
|
UTSW |
11 |
82,788,398 (GRCm39) |
missense |
probably benign |
0.15 |
|
R6793:Fndc8
|
UTSW |
11 |
82,788,412 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6798:Fndc8
|
UTSW |
11 |
82,783,217 (GRCm39) |
missense |
probably benign |
|
|
R7210:Fndc8
|
UTSW |
11 |
82,788,692 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7224:Fndc8
|
UTSW |
11 |
82,783,151 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7341:Fndc8
|
UTSW |
11 |
82,789,603 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7576:Fndc8
|
UTSW |
11 |
82,788,400 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8190:Fndc8
|
UTSW |
11 |
82,788,686 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9030:Fndc8
|
UTSW |
11 |
82,789,522 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9399:Fndc8
|
UTSW |
11 |
82,788,739 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCAGATGGCGACGGTATTC -3'
(R):5'- AGTGAACCTCAGCTGGAAGG -3'
Sequencing Primer
(F):5'- ATGGCGACGGTATTCTGTAAAG -3'
(R):5'- GAATAGGAAGCACCCCCTGG -3'
|
| Posted On |
2016-06-30 |
Incidental Mutation