Incidental Mutation 'IGL01898:Fam171a2'
ID |
179454 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Fam171a2
|
Ensembl Gene |
ENSMUSG00000034685 |
Gene Name |
family with sequence similarity 171, member A2 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.185)
|
Stock # |
IGL01898
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
102327807-102338508 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 102330582 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 267
(T267A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000038486
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049057]
[ENSMUST00000049460]
[ENSMUST00000125819]
|
AlphaFold |
A2A699 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000049057
AA Change: T267A
PolyPhen 2
Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000038486 Gene: ENSMUSG00000034685 AA Change: T267A
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
Pfam:UPF0560
|
41 |
820 |
N/A |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000049460
|
SMART Domains |
Protein: ENSMUSP00000046340 Gene: ENSMUSG00000034708
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
30 |
N/A |
INTRINSIC |
GRAN
|
74 |
125 |
1.32e-22 |
SMART |
GRAN
|
138 |
190 |
7.38e-26 |
SMART |
GRAN
|
220 |
272 |
5.76e-28 |
SMART |
GRAN
|
295 |
346 |
1.19e-29 |
SMART |
GRAN
|
377 |
427 |
1.84e-26 |
SMART |
GRAN
|
455 |
506 |
7.1e-28 |
SMART |
GRAN
|
530 |
581 |
1.48e-25 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123500
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000125819
|
SMART Domains |
Protein: ENSMUSP00000134948 Gene: ENSMUSG00000034708
Domain | Start | End | E-Value | Type |
GRAN
|
42 |
72 |
5.03e-4 |
SMART |
GRAN
|
100 |
151 |
7.1e-28 |
SMART |
GRAN
|
175 |
226 |
1.48e-25 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127530
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138451
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145190
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176953
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152015
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000177428
|
SMART Domains |
Protein: ENSMUSP00000134893 Gene: ENSMUSG00000034708
Domain | Start | End | E-Value | Type |
GRAN
|
1 |
49 |
8.68e-23 |
SMART |
GRAN
|
77 |
128 |
7.1e-28 |
SMART |
GRAN
|
152 |
180 |
3.98e-2 |
SMART |
low complexity region
|
244 |
259 |
N/A |
INTRINSIC |
low complexity region
|
309 |
324 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 23 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actl10 |
A |
T |
2: 154,394,633 (GRCm39) |
D195V |
probably damaging |
Het |
Aqp11 |
A |
G |
7: 97,375,870 (GRCm39) |
W260R |
probably benign |
Het |
Atp8a2 |
T |
C |
14: 60,260,962 (GRCm39) |
T390A |
probably damaging |
Het |
Atp8b4 |
T |
C |
2: 126,231,281 (GRCm39) |
N431S |
probably benign |
Het |
Ccdc110 |
T |
G |
8: 46,395,161 (GRCm39) |
S351A |
possibly damaging |
Het |
Cntnap4 |
T |
C |
8: 113,582,939 (GRCm39) |
F1006L |
possibly damaging |
Het |
Ddr2 |
A |
G |
1: 169,825,725 (GRCm39) |
F292L |
possibly damaging |
Het |
F830104G03Rik |
G |
A |
3: 56,797,637 (GRCm39) |
Q97* |
probably null |
Het |
Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
Igkv5-43 |
T |
A |
6: 69,752,876 (GRCm39) |
K69* |
probably null |
Het |
Mios |
T |
C |
6: 8,222,668 (GRCm39) |
I534T |
probably benign |
Het |
Nus1 |
A |
G |
10: 52,306,163 (GRCm39) |
D185G |
probably benign |
Het |
Proc |
A |
G |
18: 32,266,198 (GRCm39) |
|
probably null |
Het |
Psma3 |
T |
A |
12: 71,031,448 (GRCm39) |
H36Q |
probably benign |
Het |
Sh3rf3 |
G |
T |
10: 58,885,352 (GRCm39) |
A412S |
probably damaging |
Het |
Smgc |
A |
T |
15: 91,728,727 (GRCm39) |
|
probably null |
Het |
Sp140l2 |
A |
G |
1: 85,231,907 (GRCm39) |
|
probably benign |
Het |
Spta1 |
T |
A |
1: 174,041,428 (GRCm39) |
S1297R |
probably benign |
Het |
Steap3 |
T |
C |
1: 120,169,304 (GRCm39) |
D293G |
probably benign |
Het |
Tbx18 |
A |
T |
9: 87,589,912 (GRCm39) |
M342K |
possibly damaging |
Het |
Trip11 |
T |
C |
12: 101,851,935 (GRCm39) |
M425V |
probably benign |
Het |
Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
|
Other mutations in Fam171a2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01089:Fam171a2
|
APN |
11 |
102,328,674 (GRCm39) |
missense |
possibly damaging |
0.92 |
IGL02477:Fam171a2
|
APN |
11 |
102,330,854 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03272:Fam171a2
|
APN |
11 |
102,334,944 (GRCm39) |
missense |
possibly damaging |
0.58 |
R0102:Fam171a2
|
UTSW |
11 |
102,334,939 (GRCm39) |
missense |
possibly damaging |
0.88 |
R0102:Fam171a2
|
UTSW |
11 |
102,334,939 (GRCm39) |
missense |
possibly damaging |
0.88 |
R0632:Fam171a2
|
UTSW |
11 |
102,328,707 (GRCm39) |
missense |
probably damaging |
0.99 |
R0733:Fam171a2
|
UTSW |
11 |
102,330,548 (GRCm39) |
missense |
possibly damaging |
0.83 |
R1005:Fam171a2
|
UTSW |
11 |
102,331,007 (GRCm39) |
missense |
probably benign |
0.05 |
R1323:Fam171a2
|
UTSW |
11 |
102,334,951 (GRCm39) |
missense |
probably damaging |
0.99 |
R1323:Fam171a2
|
UTSW |
11 |
102,334,951 (GRCm39) |
missense |
probably damaging |
0.99 |
R2425:Fam171a2
|
UTSW |
11 |
102,329,187 (GRCm39) |
missense |
possibly damaging |
0.88 |
R4838:Fam171a2
|
UTSW |
11 |
102,329,511 (GRCm39) |
missense |
possibly damaging |
0.88 |
R4858:Fam171a2
|
UTSW |
11 |
102,330,982 (GRCm39) |
missense |
probably damaging |
1.00 |
R5119:Fam171a2
|
UTSW |
11 |
102,329,559 (GRCm39) |
missense |
probably damaging |
0.97 |
R5384:Fam171a2
|
UTSW |
11 |
102,328,693 (GRCm39) |
missense |
possibly damaging |
0.51 |
R5386:Fam171a2
|
UTSW |
11 |
102,328,693 (GRCm39) |
missense |
possibly damaging |
0.51 |
R5408:Fam171a2
|
UTSW |
11 |
102,328,344 (GRCm39) |
missense |
possibly damaging |
0.71 |
R5457:Fam171a2
|
UTSW |
11 |
102,328,362 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5732:Fam171a2
|
UTSW |
11 |
102,330,807 (GRCm39) |
missense |
possibly damaging |
0.94 |
R6466:Fam171a2
|
UTSW |
11 |
102,330,711 (GRCm39) |
missense |
probably damaging |
1.00 |
R6931:Fam171a2
|
UTSW |
11 |
102,329,260 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7196:Fam171a2
|
UTSW |
11 |
102,329,172 (GRCm39) |
missense |
probably benign |
0.04 |
R7261:Fam171a2
|
UTSW |
11 |
102,328,900 (GRCm39) |
missense |
probably damaging |
0.98 |
R7295:Fam171a2
|
UTSW |
11 |
102,329,064 (GRCm39) |
missense |
possibly damaging |
0.85 |
R7419:Fam171a2
|
UTSW |
11 |
102,329,628 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7422:Fam171a2
|
UTSW |
11 |
102,329,491 (GRCm39) |
missense |
probably benign |
0.29 |
R7454:Fam171a2
|
UTSW |
11 |
102,330,543 (GRCm39) |
missense |
possibly damaging |
0.88 |
R7606:Fam171a2
|
UTSW |
11 |
102,335,002 (GRCm39) |
missense |
possibly damaging |
0.75 |
R7690:Fam171a2
|
UTSW |
11 |
102,328,660 (GRCm39) |
missense |
probably benign |
0.04 |
R7754:Fam171a2
|
UTSW |
11 |
102,329,389 (GRCm39) |
missense |
probably benign |
0.00 |
R7970:Fam171a2
|
UTSW |
11 |
102,328,692 (GRCm39) |
missense |
possibly damaging |
0.93 |
R8060:Fam171a2
|
UTSW |
11 |
102,329,436 (GRCm39) |
missense |
possibly damaging |
0.88 |
R8338:Fam171a2
|
UTSW |
11 |
102,329,172 (GRCm39) |
missense |
probably benign |
0.10 |
R8924:Fam171a2
|
UTSW |
11 |
102,330,861 (GRCm39) |
missense |
possibly damaging |
0.94 |
R8976:Fam171a2
|
UTSW |
11 |
102,329,451 (GRCm39) |
missense |
possibly damaging |
0.46 |
R9116:Fam171a2
|
UTSW |
11 |
102,330,519 (GRCm39) |
missense |
probably damaging |
0.98 |
R9155:Fam171a2
|
UTSW |
11 |
102,329,497 (GRCm39) |
missense |
probably benign |
0.28 |
R9346:Fam171a2
|
UTSW |
11 |
102,328,771 (GRCm39) |
missense |
possibly damaging |
0.87 |
Z1176:Fam171a2
|
UTSW |
11 |
102,338,272 (GRCm39) |
missense |
unknown |
|
|
Posted On |
2014-05-07 |