Incidental Mutation 'R4435:Fam169a'
ID |
329499 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fam169a
|
Ensembl Gene |
ENSMUSG00000041817 |
Gene Name |
family with sequence similarity 169, member A |
Synonyms |
B230112C05Rik |
MMRRC Submission |
041149-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.082)
|
Stock # |
R4435 (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: 97.3%
- 20x: 95.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam6b |
A |
C |
12: 113,454,281 (GRCm39) |
Q366P |
probably damaging |
Het |
Adamts16 |
G |
A |
13: 70,927,637 (GRCm39) |
|
probably benign |
Het |
Ank3 |
C |
T |
10: 69,822,900 (GRCm39) |
S523L |
probably damaging |
Het |
Arap1 |
C |
A |
7: 101,039,461 (GRCm39) |
R574S |
possibly damaging |
Het |
Arhgap25 |
T |
C |
6: 87,439,920 (GRCm39) |
I576V |
possibly damaging |
Het |
Ascc3 |
T |
A |
10: 50,597,981 (GRCm39) |
V1283D |
probably benign |
Het |
Asnsd1 |
A |
T |
1: 53,387,232 (GRCm39) |
|
probably null |
Het |
Asrgl1 |
C |
T |
19: 9,096,563 (GRCm39) |
V125I |
probably damaging |
Het |
Bccip |
A |
G |
7: 133,320,942 (GRCm39) |
R239G |
probably benign |
Het |
Cdyl |
T |
C |
13: 36,042,233 (GRCm39) |
|
probably null |
Het |
Cyfip1 |
T |
C |
7: 55,549,789 (GRCm39) |
I650T |
probably damaging |
Het |
Dennd4c |
C |
A |
4: 86,716,312 (GRCm39) |
Q506K |
probably benign |
Het |
Fam135b |
T |
C |
15: 71,320,588 (GRCm39) |
D1313G |
probably damaging |
Het |
Gm5134 |
T |
G |
10: 75,831,658 (GRCm39) |
S366A |
probably damaging |
Het |
Gm5849 |
T |
A |
3: 90,685,182 (GRCm39) |
K1M |
probably null |
Het |
Gpn3 |
A |
G |
5: 122,520,115 (GRCm39) |
D223G |
probably benign |
Het |
Hk1 |
A |
G |
10: 62,111,623 (GRCm39) |
Y713H |
probably damaging |
Het |
Ifih1 |
A |
G |
2: 62,476,234 (GRCm39) |
L14P |
probably damaging |
Het |
Kmt2c |
A |
T |
5: 25,519,875 (GRCm39) |
N2078K |
possibly damaging |
Het |
Maf |
T |
A |
8: 116,433,592 (GRCm39) |
E4V |
unknown |
Het |
Mbtd1 |
T |
A |
11: 93,823,048 (GRCm39) |
D489E |
probably benign |
Het |
Myrip |
C |
T |
9: 120,164,680 (GRCm39) |
|
probably benign |
Het |
Nedd4l |
A |
G |
18: 65,345,896 (GRCm39) |
D816G |
possibly damaging |
Het |
Nwd1 |
T |
C |
8: 73,414,764 (GRCm39) |
V934A |
possibly damaging |
Het |
Or2a12 |
T |
A |
6: 42,905,023 (GRCm39) |
I286N |
probably damaging |
Het |
Or5ae1 |
A |
G |
7: 84,565,229 (GRCm39) |
M81V |
probably benign |
Het |
Psd |
A |
T |
19: 46,302,933 (GRCm39) |
I158N |
probably damaging |
Het |
Ptprq |
A |
G |
10: 107,520,916 (GRCm39) |
V752A |
possibly damaging |
Het |
Robo4 |
CGG |
CG |
9: 37,322,786 (GRCm39) |
|
probably null |
Het |
Senp2 |
T |
A |
16: 21,832,991 (GRCm39) |
V93E |
possibly damaging |
Het |
Siah1b |
G |
A |
X: 162,854,688 (GRCm39) |
P131S |
probably damaging |
Het |
Slc38a4 |
T |
C |
15: 96,906,899 (GRCm39) |
S280G |
probably benign |
Het |
Sos2 |
T |
C |
12: 69,661,473 (GRCm39) |
E666G |
possibly damaging |
Het |
Strip2 |
T |
C |
6: 29,925,049 (GRCm39) |
V129A |
probably benign |
Het |
Tsc2 |
G |
A |
17: 24,818,687 (GRCm39) |
P1450L |
probably benign |
Het |
Ttn |
T |
C |
2: 76,747,219 (GRCm39) |
E4610G |
probably benign |
Het |
Uimc1 |
T |
C |
13: 55,223,636 (GRCm39) |
E212G |
probably damaging |
Het |
Zc3h18 |
T |
C |
8: 123,140,691 (GRCm39) |
|
probably null |
Het |
Zswim3 |
T |
A |
2: 164,662,563 (GRCm39) |
C348S |
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 |
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 |
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'- AAGCCCATCTGATGATAAAGGAC -3'
(R):5'- AGCTGCTATCCACAGCTTTC -3'
Sequencing Primer
(F):5'- CCCATCTGATGATAAAGGACATACTG -3'
(R):5'- TCTCTGCTGACTGTGTAAACTG -3'
|
Posted On |
2015-07-21 |