Incidental Mutation 'R4437:Fam169a'
| ID |
329588 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fam169a
|
| Ensembl Gene |
ENSMUSG00000041817 |
| Gene Name |
family with sequence similarity 169, member A |
| Synonyms |
B230112C05Rik |
| MMRRC Submission |
041150-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.082)
|
| Stock # |
R4437 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
97203795-97266801 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 97263248 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 567
(D567G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126209
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042517]
[ENSMUST00000073456]
[ENSMUST00000169863]
[ENSMUST00000225410]
|
| AlphaFold |
Q5XG69 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000042517
AA Change: D567G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000043738
Gene: ENSMUSG00000041817
AA Change: D567G
| 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 benign
Transcript: ENSMUST00000073456
|
| SMART Domains |
Protein: ENSMUSP00000073161
Gene: ENSMUSG00000060739
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ribosomal_S8e
|
1 |
259 |
1.3e-49 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000169863
AA Change: D567G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000126209
Gene: ENSMUSG00000041817
AA Change: D567G
| 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 benign
Transcript: ENSMUST00000225410
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam6b |
A |
C |
12: 113,454,281 (GRCm39) |
Q366P |
probably damaging |
Het |
| Arhgef16 |
A |
G |
4: 154,364,153 (GRCm39) |
|
probably null |
Het |
| Bcar1 |
G |
A |
8: 112,442,021 (GRCm39) |
T273M |
probably damaging |
Het |
| Bcl2a1d |
A |
T |
9: 88,613,753 (GRCm39) |
M7K |
probably benign |
Het |
| Bptf |
A |
G |
11: 106,965,300 (GRCm39) |
V1235A |
possibly damaging |
Het |
| Camsap1 |
G |
A |
2: 25,828,658 (GRCm39) |
T1022I |
possibly damaging |
Het |
| Cdc37l1 |
T |
C |
19: 28,985,021 (GRCm39) |
F224L |
probably damaging |
Het |
| Col4a1 |
G |
T |
8: 11,256,387 (GRCm39) |
C1493* |
probably null |
Het |
| Cul9 |
A |
G |
17: 46,813,085 (GRCm39) |
L2378P |
probably damaging |
Het |
| D630003M21Rik |
G |
A |
2: 158,055,382 (GRCm39) |
P585L |
probably damaging |
Het |
| Frem3 |
A |
G |
8: 81,339,236 (GRCm39) |
I510V |
probably benign |
Het |
| Garin2 |
T |
A |
12: 78,761,824 (GRCm39) |
F163I |
probably damaging |
Het |
| Gm2381 |
A |
T |
7: 42,469,268 (GRCm39) |
H285Q |
probably damaging |
Het |
| Gm4884 |
A |
G |
7: 40,692,514 (GRCm39) |
Q161R |
probably damaging |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Igkv1-99 |
T |
G |
6: 68,519,318 (GRCm39) |
S91A |
probably benign |
Het |
| Itga6 |
T |
C |
2: 71,655,982 (GRCm39) |
L302P |
probably benign |
Het |
| Mdga2 |
T |
C |
12: 66,519,972 (GRCm39) |
|
probably null |
Het |
| Myoc |
A |
G |
1: 162,476,681 (GRCm39) |
M462V |
possibly damaging |
Het |
| Nkx2-4 |
T |
C |
2: 146,926,179 (GRCm39) |
T228A |
possibly damaging |
Het |
| Npr1 |
T |
G |
3: 90,363,593 (GRCm39) |
D810A |
probably damaging |
Het |
| Or4a68 |
T |
G |
2: 89,269,698 (GRCm39) |
R308S |
possibly damaging |
Het |
| Or4k15b |
T |
C |
14: 50,272,287 (GRCm39) |
D191G |
probably damaging |
Het |
| Or51a24 |
T |
C |
7: 103,734,128 (GRCm39) |
E53G |
possibly damaging |
Het |
| Pde4dip |
G |
A |
3: 97,673,885 (GRCm39) |
L344F |
possibly damaging |
Het |
| Pfas |
A |
G |
11: 68,879,243 (GRCm39) |
L1218P |
probably damaging |
Het |
| Rimoc1 |
T |
C |
15: 4,021,318 (GRCm39) |
E79G |
probably damaging |
Het |
| Rln1 |
A |
T |
19: 29,311,962 (GRCm39) |
F12Y |
possibly damaging |
Het |
| Robo2 |
T |
C |
16: 73,770,132 (GRCm39) |
T531A |
possibly damaging |
Het |
| Siah1b |
G |
A |
X: 162,854,688 (GRCm39) |
P131S |
probably damaging |
Het |
| Tsc2 |
G |
A |
17: 24,818,687 (GRCm39) |
P1450L |
probably benign |
Het |
| Vps33a |
A |
T |
5: 123,669,947 (GRCm39) |
I519N |
probably benign |
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 |
|
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 |
|
R5370:Fam169a
|
UTSW |
13 |
97,243,470 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- AGCCCATCTGATGATAAAGGAC -3'
(R):5'- AGCTGCTATCCACAGCTTTC -3'
Sequencing Primer
(F):5'- CCCATCTGATGATAAAGGACATACTG -3'
(R):5'- TCTCTGCTGACTGTGTAAACTG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation