Incidental Mutation 'R2325:Fam170a'
| ID |
244901 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fam170a
|
| Ensembl Gene |
ENSMUSG00000035420 |
| Gene Name |
family with sequence similarity 170, member A |
| Synonyms |
LOC225497, Znfd |
| MMRRC Submission |
040316-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2325 (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 50414917 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 188
(K188E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035910
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039121]
|
| AlphaFold |
Q66LM6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000039121
AA Change: K188E
PolyPhen 2
Score 0.562 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000035910
Gene: ENSMUSG00000035420
AA Change: K188E
| 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: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akr1c20 |
T |
C |
13: 4,573,295 (GRCm39) |
T7A |
probably benign |
Het |
| Atoh7 |
C |
A |
10: 62,935,924 (GRCm39) |
|
probably benign |
Het |
| Atp2b1 |
C |
T |
10: 98,854,757 (GRCm39) |
Q219* |
probably null |
Het |
| B3galt2 |
A |
G |
1: 143,522,926 (GRCm39) |
D354G |
probably benign |
Het |
| Cdh9 |
A |
G |
15: 16,778,286 (GRCm39) |
R34G |
probably benign |
Het |
| Cyp4x1 |
A |
T |
4: 114,981,576 (GRCm39) |
C126S |
probably benign |
Het |
| Dse |
A |
T |
10: 34,060,043 (GRCm39) |
S21T |
probably benign |
Het |
| Ell2 |
T |
A |
13: 75,917,745 (GRCm39) |
H558Q |
probably damaging |
Het |
| Elp1 |
A |
T |
4: 56,784,622 (GRCm39) |
M457K |
probably benign |
Het |
| Esco2 |
A |
T |
14: 66,064,027 (GRCm39) |
|
probably null |
Het |
| Gin1 |
A |
C |
1: 97,720,286 (GRCm39) |
Y516S |
probably damaging |
Het |
| Gm8439 |
A |
G |
4: 120,446,048 (GRCm39) |
E16G |
unknown |
Het |
| Gtf2b |
A |
G |
3: 142,485,851 (GRCm39) |
T176A |
probably damaging |
Het |
| Kcnh6 |
C |
T |
11: 105,924,661 (GRCm39) |
S822F |
probably benign |
Het |
| Lct |
T |
C |
1: 128,231,963 (GRCm39) |
M629V |
probably damaging |
Het |
| Lrp8 |
A |
T |
4: 107,721,206 (GRCm39) |
D602V |
probably benign |
Het |
| Med12l |
A |
G |
3: 59,139,875 (GRCm39) |
T817A |
probably damaging |
Het |
| Mroh9 |
A |
C |
1: 162,854,099 (GRCm39) |
|
probably null |
Het |
| N4bp1 |
T |
C |
8: 87,575,088 (GRCm39) |
I736V |
probably damaging |
Het |
| Nebl |
T |
C |
2: 17,397,827 (GRCm39) |
K490E |
possibly damaging |
Het |
| P2ry1 |
A |
T |
3: 60,910,999 (GRCm39) |
K46M |
probably damaging |
Het |
| Ppp1r37 |
A |
T |
7: 19,266,609 (GRCm39) |
L426H |
probably damaging |
Het |
| Prkci |
T |
A |
3: 31,085,217 (GRCm39) |
|
probably null |
Het |
| Prss35 |
G |
A |
9: 86,638,357 (GRCm39) |
G376R |
probably damaging |
Het |
| Scube2 |
C |
G |
7: 109,443,161 (GRCm39) |
C226S |
probably damaging |
Het |
| Slc26a5 |
T |
G |
5: 22,024,692 (GRCm39) |
Y469S |
probably damaging |
Het |
| Stil |
T |
A |
4: 114,889,904 (GRCm39) |
D797E |
probably benign |
Het |
| Thbs2 |
A |
T |
17: 14,910,551 (GRCm39) |
|
probably null |
Het |
| Tmem132e |
C |
A |
11: 82,325,341 (GRCm39) |
L114M |
probably damaging |
Het |
| Tmem161b |
C |
A |
13: 84,442,887 (GRCm39) |
T269K |
possibly damaging |
Het |
| Vmn1r173 |
T |
A |
7: 23,402,537 (GRCm39) |
C257* |
probably null |
Het |
| Zc3h15 |
G |
A |
2: 83,483,783 (GRCm39) |
G53S |
probably damaging |
Het |
| Zfp462 |
A |
C |
4: 55,013,712 (GRCm39) |
I1893L |
probably benign |
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 |
|
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 |
|
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'- AAAAGGTGTGGCCATCTCC -3'
(R):5'- TGCCAATCAGCTGAGCCATG -3'
Sequencing Primer
(F):5'- CATCTCCTGGGACACAAAGG -3'
(R):5'- TCAGCTGAGCCATGGTGAG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation