Incidental Mutation 'R1242:Fam170a'
| ID |
152050 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fam170a
|
| Ensembl Gene |
ENSMUSG00000035420 |
| Gene Name |
family with sequence similarity 170, member A |
| Synonyms |
LOC225497, Znfd |
| MMRRC Submission |
039309-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1242 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
50411436-50416087 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 50415206 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 284
(E284G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035910
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039121]
|
| AlphaFold |
Q66LM6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000039121
AA Change: E284G
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000035910
Gene: ENSMUSG00000035420
AA Change: E284G
| 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 |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 90.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bbs7 |
A |
G |
3: 36,632,576 (GRCm39) |
F549L |
probably damaging |
Het |
| Cmc2 |
T |
C |
8: 117,637,937 (GRCm39) |
D4G |
probably damaging |
Het |
| Cnr2 |
T |
A |
4: 135,644,294 (GRCm39) |
L124Q |
probably damaging |
Het |
| Cobll1 |
T |
C |
2: 64,981,513 (GRCm39) |
|
probably null |
Het |
| Defb30 |
A |
T |
14: 63,273,455 (GRCm39) |
Y53N |
probably damaging |
Het |
| Dtnb |
T |
A |
12: 3,782,627 (GRCm39) |
Y363* |
probably null |
Het |
| Gm16505 |
T |
A |
13: 3,411,109 (GRCm39) |
|
noncoding transcript |
Het |
| Gtf2h1 |
T |
C |
7: 46,462,175 (GRCm39) |
|
probably null |
Het |
| Gucy1a1 |
C |
T |
3: 82,013,260 (GRCm39) |
|
probably null |
Het |
| Hfm1 |
T |
A |
5: 107,022,767 (GRCm39) |
N945I |
probably damaging |
Het |
| Hpse2 |
G |
A |
19: 42,955,416 (GRCm39) |
T327I |
probably benign |
Het |
| Il3 |
T |
C |
11: 54,157,929 (GRCm39) |
I50V |
probably benign |
Het |
| Mgat5b |
A |
G |
11: 116,869,230 (GRCm39) |
K591R |
probably benign |
Het |
| Nup214 |
C |
T |
2: 31,867,782 (GRCm39) |
T83I |
probably benign |
Het |
| Or2v2 |
A |
T |
11: 49,003,728 (GRCm39) |
V275E |
possibly damaging |
Het |
| Rp1 |
T |
A |
1: 4,415,185 (GRCm39) |
I1976F |
probably benign |
Het |
| Sardh |
T |
A |
2: 27,125,575 (GRCm39) |
D313V |
probably damaging |
Het |
| Tent5c |
A |
T |
3: 100,380,192 (GRCm39) |
L188Q |
probably damaging |
Het |
| Vmn1r173 |
C |
T |
7: 23,402,650 (GRCm39) |
P295L |
probably damaging |
Het |
| Vmn1r38 |
A |
C |
6: 66,753,344 (GRCm39) |
Y257* |
probably null |
Het |
| Xkr4 |
T |
A |
1: 3,286,360 (GRCm39) |
D610V |
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 |
|
IGL01681:Fam170a
|
APN |
18 |
50,415,302 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAAACCTCCTGTCGGACAGTGAAC -3'
(R):5'- CCTAGAGGGGCAAGATTGCTCAAC -3'
Sequencing Primer
(F):5'- TCGGACAGTGAACCCATTGG -3'
(R):5'- GGCAAGATTGCTCAACAAACC -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation