Incidental Mutation 'R5370:Fam169a'
ID |
429613 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fam169a
|
Ensembl Gene |
ENSMUSG00000041817 |
Gene Name |
family with sequence similarity 169, member A |
Synonyms |
B230112C05Rik |
MMRRC Submission |
042947-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.100)
|
Stock # |
R5370 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
97203795-97266801 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 97243470 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Serine
at position 167
(C167S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126209
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042517]
[ENSMUST00000169863]
|
AlphaFold |
Q5XG69 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000042517
AA Change: C167S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000043738 Gene: ENSMUSG00000041817 AA Change: C167S
Domain | Start | End | E-Value | Type |
low complexity region
|
374 |
386 |
N/A |
INTRINSIC |
low complexity region
|
602 |
619 |
N/A |
INTRINSIC |
low complexity region
|
630 |
642 |
N/A |
INTRINSIC |
low complexity region
|
650 |
663 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000169863
AA Change: C167S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000126209 Gene: ENSMUSG00000041817 AA Change: C167S
Domain | Start | End | E-Value | Type |
low complexity region
|
374 |
386 |
N/A |
INTRINSIC |
low complexity region
|
602 |
619 |
N/A |
INTRINSIC |
low complexity region
|
630 |
642 |
N/A |
INTRINSIC |
low complexity region
|
650 |
663 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 92.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb8 |
C |
T |
5: 24,605,137 (GRCm39) |
R108C |
possibly damaging |
Het |
Armc3 |
A |
C |
2: 19,290,873 (GRCm39) |
T451P |
probably benign |
Het |
Ass1 |
G |
A |
2: 31,408,745 (GRCm39) |
V379M |
possibly damaging |
Het |
Cdhr2 |
A |
G |
13: 54,868,700 (GRCm39) |
Y554C |
probably damaging |
Het |
Clec4g |
C |
A |
8: 3,768,344 (GRCm39) |
R129L |
probably benign |
Het |
Dip2b |
C |
T |
15: 100,109,867 (GRCm39) |
R1451C |
probably damaging |
Het |
Dnah9 |
T |
A |
11: 65,920,180 (GRCm39) |
T2238S |
probably damaging |
Het |
Dner |
CGCTGCTGCTGCTGCTGCTGCTGCTGC |
CGCTGCTGCTGCTGCTGCTGCTGC |
1: 84,563,270 (GRCm39) |
|
probably benign |
Het |
Ephb2 |
T |
C |
4: 136,498,881 (GRCm39) |
E66G |
probably benign |
Het |
Ggcx |
T |
C |
6: 72,402,914 (GRCm39) |
S291P |
possibly damaging |
Het |
Gsdme |
T |
A |
6: 50,206,286 (GRCm39) |
I186F |
probably damaging |
Het |
Gzma |
T |
A |
13: 113,232,329 (GRCm39) |
M191L |
probably damaging |
Het |
Heatr1 |
T |
A |
13: 12,416,403 (GRCm39) |
S226T |
probably benign |
Het |
Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
Hs6st1 |
T |
A |
1: 36,108,162 (GRCm39) |
S142T |
probably damaging |
Het |
Ighv3-5 |
A |
G |
12: 114,226,518 (GRCm39) |
V36A |
probably benign |
Het |
Leng8 |
A |
G |
7: 4,148,433 (GRCm39) |
D735G |
possibly damaging |
Het |
Mapk13 |
T |
A |
17: 28,995,326 (GRCm39) |
Y182* |
probably null |
Het |
Mrgprb8 |
A |
T |
7: 48,038,568 (GRCm39) |
T80S |
probably benign |
Het |
Myom2 |
G |
A |
8: 15,149,343 (GRCm39) |
A605T |
probably benign |
Het |
Nxf1 |
A |
G |
19: 8,749,504 (GRCm39) |
T134A |
probably damaging |
Het |
Or2n1d |
G |
T |
17: 38,646,335 (GRCm39) |
G96* |
probably null |
Het |
Padi3 |
C |
A |
4: 140,537,849 (GRCm39) |
E24* |
probably null |
Het |
Pcdhga3 |
T |
A |
18: 37,808,343 (GRCm39) |
D265E |
probably damaging |
Het |
Pros1 |
A |
T |
16: 62,734,339 (GRCm39) |
I382L |
probably benign |
Het |
Ptpn23 |
A |
G |
9: 110,214,769 (GRCm39) |
V1544A |
possibly damaging |
Het |
Rhoh |
G |
T |
5: 66,049,921 (GRCm39) |
A64S |
probably benign |
Het |
Rnf115 |
A |
G |
3: 96,665,336 (GRCm39) |
T69A |
probably benign |
Het |
Taf5 |
A |
G |
19: 47,064,203 (GRCm39) |
E382G |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
Vmn2r104 |
A |
T |
17: 20,250,450 (GRCm39) |
I607N |
probably damaging |
Het |
Vmn2r11 |
T |
C |
5: 109,195,421 (GRCm39) |
Y635C |
probably damaging |
Het |
Vwa5a |
A |
G |
9: 38,652,512 (GRCm39) |
D765G |
probably benign |
Het |
Wnk2 |
T |
C |
13: 49,256,437 (GRCm39) |
D228G |
probably damaging |
Het |
Xirp2 |
A |
G |
2: 67,342,496 (GRCm39) |
D1579G |
possibly damaging |
Het |
|
Other mutations in Fam169a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01325:Fam169a
|
APN |
13 |
97,259,207 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01380:Fam169a
|
APN |
13 |
97,228,459 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL01761:Fam169a
|
APN |
13 |
97,228,426 (GRCm39) |
missense |
possibly damaging |
0.92 |
IGL02628:Fam169a
|
APN |
13 |
97,247,796 (GRCm39) |
splice site |
probably benign |
|
IGL02739:Fam169a
|
APN |
13 |
97,230,563 (GRCm39) |
splice site |
probably benign |
|
IGL03171:Fam169a
|
APN |
13 |
97,246,522 (GRCm39) |
splice site |
probably benign |
|
IGL03306:Fam169a
|
APN |
13 |
97,243,497 (GRCm39) |
missense |
possibly damaging |
0.66 |
IGL03377:Fam169a
|
APN |
13 |
97,228,381 (GRCm39) |
missense |
probably benign |
0.04 |
IGL02980:Fam169a
|
UTSW |
13 |
97,250,188 (GRCm39) |
critical splice donor site |
probably null |
|
R0282:Fam169a
|
UTSW |
13 |
97,234,223 (GRCm39) |
splice site |
probably benign |
|
R1319:Fam169a
|
UTSW |
13 |
97,234,070 (GRCm39) |
missense |
probably damaging |
1.00 |
R1468:Fam169a
|
UTSW |
13 |
97,255,038 (GRCm39) |
missense |
probably benign |
0.01 |
R1468:Fam169a
|
UTSW |
13 |
97,255,038 (GRCm39) |
missense |
probably benign |
0.01 |
R2037:Fam169a
|
UTSW |
13 |
97,243,600 (GRCm39) |
missense |
probably benign |
0.37 |
R2380:Fam169a
|
UTSW |
13 |
97,255,043 (GRCm39) |
splice site |
probably benign |
|
R3805:Fam169a
|
UTSW |
13 |
97,234,192 (GRCm39) |
missense |
probably benign |
0.00 |
R4434:Fam169a
|
UTSW |
13 |
97,263,248 (GRCm39) |
missense |
probably damaging |
1.00 |
R4435:Fam169a
|
UTSW |
13 |
97,263,248 (GRCm39) |
missense |
probably damaging |
1.00 |
R4437:Fam169a
|
UTSW |
13 |
97,263,248 (GRCm39) |
missense |
probably damaging |
1.00 |
R4590:Fam169a
|
UTSW |
13 |
97,234,093 (GRCm39) |
missense |
probably benign |
0.02 |
R4896:Fam169a
|
UTSW |
13 |
97,234,100 (GRCm39) |
missense |
probably damaging |
1.00 |
R5004:Fam169a
|
UTSW |
13 |
97,234,100 (GRCm39) |
missense |
probably damaging |
1.00 |
R5276:Fam169a
|
UTSW |
13 |
97,255,004 (GRCm39) |
missense |
probably benign |
0.01 |
R5687:Fam169a
|
UTSW |
13 |
97,230,126 (GRCm39) |
missense |
probably damaging |
1.00 |
R6151:Fam169a
|
UTSW |
13 |
97,230,138 (GRCm39) |
missense |
probably damaging |
1.00 |
R7711:Fam169a
|
UTSW |
13 |
97,263,196 (GRCm39) |
nonsense |
probably null |
|
R8322:Fam169a
|
UTSW |
13 |
97,259,260 (GRCm39) |
missense |
probably benign |
0.00 |
R8493:Fam169a
|
UTSW |
13 |
97,259,367 (GRCm39) |
missense |
probably benign |
0.00 |
R8698:Fam169a
|
UTSW |
13 |
97,243,578 (GRCm39) |
missense |
probably damaging |
1.00 |
R8794:Fam169a
|
UTSW |
13 |
97,250,628 (GRCm39) |
missense |
possibly damaging |
0.85 |
R9231:Fam169a
|
UTSW |
13 |
97,254,967 (GRCm39) |
missense |
probably benign |
0.08 |
R9479:Fam169a
|
UTSW |
13 |
97,250,695 (GRCm39) |
missense |
possibly damaging |
0.94 |
R9479:Fam169a
|
UTSW |
13 |
97,246,543 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
Predicted Primers |
PCR Primer
(F):5'- AGCTACTTGTCCTATATTACTGTTGGC -3'
(R):5'- TCACCTGTGTACATGAGAGAAG -3'
Sequencing Primer
(F):5'- CTGTTGGCAAACATAAAATAACAGC -3'
(R):5'- CCTGTGTACATGAGAGAAGACAGTG -3'
|
Posted On |
2016-09-06 |