Incidental Mutation 'IGL01681:Fam170a'
ID |
103814 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Fam170a
|
Ensembl Gene |
ENSMUSG00000035420 |
Gene Name |
family with sequence similarity 170, member A |
Synonyms |
LOC225497, Znfd |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01681
|
Quality Score |
|
Status
|
|
Chromosome |
18 |
Chromosomal Location |
50411436-50416087 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 50415302 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 316
(D316G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000035910
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039121]
|
AlphaFold |
Q66LM6 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000039121
AA Change: D316G
PolyPhen 2
Score 0.551 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000035910 Gene: ENSMUSG00000035420 AA Change: D316G
Domain | Start | End | E-Value | Type |
low complexity region
|
92 |
105 |
N/A |
INTRINSIC |
low complexity region
|
181 |
200 |
N/A |
INTRINSIC |
ZnF_C2H2
|
224 |
244 |
2.35e1 |
SMART |
low complexity region
|
268 |
300 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adnp2 |
T |
A |
18: 80,171,103 (GRCm39) |
E1102V |
probably damaging |
Het |
Appl2 |
T |
A |
10: 83,450,165 (GRCm39) |
I236F |
possibly damaging |
Het |
Asb15 |
C |
A |
6: 24,567,137 (GRCm39) |
T486K |
probably damaging |
Het |
Bsdc1 |
T |
C |
4: 129,359,141 (GRCm39) |
|
probably null |
Het |
Cts8 |
G |
T |
13: 61,401,433 (GRCm39) |
Q61K |
probably benign |
Het |
Cyp2d34 |
C |
T |
15: 82,501,332 (GRCm39) |
|
probably null |
Het |
Dnah12 |
A |
G |
14: 26,443,315 (GRCm39) |
T575A |
probably benign |
Het |
Dync2h1 |
T |
C |
9: 7,142,196 (GRCm39) |
|
probably null |
Het |
Gtf2h3 |
T |
A |
5: 124,732,854 (GRCm39) |
L216Q |
probably damaging |
Het |
Heatr6 |
T |
A |
11: 83,655,826 (GRCm39) |
S306T |
probably benign |
Het |
Hey2 |
A |
G |
10: 30,710,133 (GRCm39) |
S207P |
probably benign |
Het |
Kng2 |
T |
A |
16: 22,815,767 (GRCm39) |
|
probably benign |
Het |
Lama2 |
C |
T |
10: 27,141,041 (GRCm39) |
E653K |
probably benign |
Het |
Lrrcc1 |
T |
C |
3: 14,613,286 (GRCm39) |
V37A |
probably benign |
Het |
Neb |
T |
C |
2: 52,091,498 (GRCm39) |
D5085G |
probably damaging |
Het |
Nexn |
T |
C |
3: 151,949,507 (GRCm39) |
M321V |
possibly damaging |
Het |
Nsmce3 |
A |
G |
7: 64,522,221 (GRCm39) |
I149T |
probably benign |
Het |
Oxct1 |
T |
G |
15: 4,131,326 (GRCm39) |
S405A |
possibly damaging |
Het |
Pdpr |
T |
A |
8: 111,859,568 (GRCm39) |
N703K |
probably damaging |
Het |
Scn10a |
A |
T |
9: 119,523,143 (GRCm39) |
D83E |
probably damaging |
Het |
Slc47a2 |
C |
T |
11: 61,228,866 (GRCm39) |
A104T |
probably damaging |
Het |
Slc4a2 |
A |
G |
5: 24,639,185 (GRCm39) |
I393V |
probably damaging |
Het |
Thoc6 |
A |
T |
17: 23,888,857 (GRCm39) |
L184M |
possibly damaging |
Het |
Tjp2 |
C |
T |
19: 24,112,213 (GRCm39) |
|
probably null |
Het |
Tmem63b |
A |
G |
17: 45,974,497 (GRCm39) |
L591P |
probably damaging |
Het |
Tnrc6b |
A |
G |
15: 80,763,512 (GRCm39) |
|
probably null |
Het |
Trmt5 |
G |
T |
12: 73,329,377 (GRCm39) |
|
probably benign |
Het |
Ubap1l |
T |
A |
9: 65,281,201 (GRCm39) |
M293K |
probably benign |
Het |
Yars1 |
A |
G |
4: 129,099,935 (GRCm39) |
E211G |
probably damaging |
Het |
Zbbx |
A |
C |
3: 74,959,785 (GRCm39) |
Y595D |
probably damaging |
Het |
Zc3h10 |
G |
A |
10: 128,381,109 (GRCm39) |
Q83* |
probably null |
Het |
Zcchc3 |
T |
C |
2: 152,255,925 (GRCm39) |
N258S |
probably damaging |
Het |
|
Other mutations in Fam170a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01351:Fam170a
|
APN |
18 |
50,414,845 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01637:Fam170a
|
APN |
18 |
50,414,734 (GRCm39) |
missense |
possibly damaging |
0.88 |
IGL03151:Fam170a
|
APN |
18 |
50,414,708 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03263:Fam170a
|
APN |
18 |
50,413,588 (GRCm39) |
splice site |
probably benign |
|
R0446:Fam170a
|
UTSW |
18 |
50,413,699 (GRCm39) |
missense |
possibly damaging |
0.92 |
R1029:Fam170a
|
UTSW |
18 |
50,414,741 (GRCm39) |
missense |
probably damaging |
1.00 |
R1242:Fam170a
|
UTSW |
18 |
50,415,206 (GRCm39) |
missense |
probably damaging |
0.96 |
R1958:Fam170a
|
UTSW |
18 |
50,415,181 (GRCm39) |
missense |
probably benign |
0.04 |
R2325:Fam170a
|
UTSW |
18 |
50,414,917 (GRCm39) |
missense |
possibly damaging |
0.56 |
R3722:Fam170a
|
UTSW |
18 |
50,415,271 (GRCm39) |
missense |
probably benign |
0.16 |
R4012:Fam170a
|
UTSW |
18 |
50,415,038 (GRCm39) |
missense |
probably damaging |
1.00 |
R4240:Fam170a
|
UTSW |
18 |
50,414,734 (GRCm39) |
missense |
possibly damaging |
0.88 |
R4835:Fam170a
|
UTSW |
18 |
50,415,050 (GRCm39) |
missense |
probably damaging |
0.98 |
R5030:Fam170a
|
UTSW |
18 |
50,415,021 (GRCm39) |
missense |
probably benign |
0.00 |
R5201:Fam170a
|
UTSW |
18 |
50,415,193 (GRCm39) |
missense |
probably benign |
0.00 |
R5401:Fam170a
|
UTSW |
18 |
50,413,618 (GRCm39) |
missense |
probably benign |
0.20 |
R5907:Fam170a
|
UTSW |
18 |
50,415,321 (GRCm39) |
critical splice donor site |
probably null |
|
R6207:Fam170a
|
UTSW |
18 |
50,415,017 (GRCm39) |
missense |
probably damaging |
0.99 |
R7080:Fam170a
|
UTSW |
18 |
50,413,740 (GRCm39) |
critical splice donor site |
probably null |
|
R7232:Fam170a
|
UTSW |
18 |
50,414,728 (GRCm39) |
missense |
probably damaging |
1.00 |
R7622:Fam170a
|
UTSW |
18 |
50,415,969 (GRCm39) |
missense |
probably benign |
0.20 |
R8359:Fam170a
|
UTSW |
18 |
50,414,677 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Fam170a
|
UTSW |
18 |
50,414,651 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
Posted On |
2014-01-21 |