Incidental Mutation 'IGL02477:Fam171a2'
ID |
295014 |
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: 0.172)
|
Stock # |
IGL02477
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
102327807-102338508 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 102330854 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Methionine
at position 208
(I208M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000038486
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049057]
[ENSMUST00000049460]
[ENSMUST00000125819]
|
AlphaFold |
A2A699 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000049057
AA Change: I208M
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000038486 Gene: ENSMUSG00000034685 AA Change: I208M
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: 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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921539E11Rik |
T |
A |
4: 103,127,943 (GRCm39) |
I61F |
probably benign |
Het |
Abr |
T |
C |
11: 76,352,186 (GRCm39) |
K280E |
probably damaging |
Het |
Acaca |
T |
C |
11: 84,197,994 (GRCm39) |
|
probably benign |
Het |
Cep131 |
C |
T |
11: 119,961,406 (GRCm39) |
V582I |
probably damaging |
Het |
Colec12 |
A |
G |
18: 9,859,858 (GRCm39) |
N613D |
unknown |
Het |
Cyp4f39 |
A |
G |
17: 32,708,619 (GRCm39) |
T389A |
probably benign |
Het |
D630003M21Rik |
T |
C |
2: 158,059,408 (GRCm39) |
N164S |
probably benign |
Het |
Eef1akmt2 |
A |
T |
7: 132,452,318 (GRCm39) |
|
probably null |
Het |
Elp3 |
T |
C |
14: 65,800,760 (GRCm39) |
T283A |
probably benign |
Het |
Fads3 |
C |
A |
19: 10,033,806 (GRCm39) |
P397Q |
probably damaging |
Het |
Fam171a1 |
T |
C |
2: 3,203,612 (GRCm39) |
V198A |
possibly damaging |
Het |
Fbxw17 |
G |
A |
13: 50,577,853 (GRCm39) |
V119M |
possibly damaging |
Het |
Gtf2ird1 |
G |
A |
5: 134,408,832 (GRCm39) |
T140M |
probably damaging |
Het |
Hspa14 |
C |
T |
2: 3,497,661 (GRCm39) |
S277N |
probably damaging |
Het |
Hspg2 |
C |
T |
4: 137,271,823 (GRCm39) |
|
probably benign |
Het |
Ing2 |
G |
T |
8: 48,122,303 (GRCm39) |
R82S |
possibly damaging |
Het |
Kat6a |
A |
G |
8: 23,419,316 (GRCm39) |
Y693C |
probably damaging |
Het |
Kcna7 |
A |
G |
7: 45,059,047 (GRCm39) |
M445V |
probably benign |
Het |
Lifr |
T |
G |
15: 7,216,404 (GRCm39) |
I793S |
probably damaging |
Het |
Lrrd1 |
T |
A |
5: 3,915,770 (GRCm39) |
M789K |
probably benign |
Het |
Myom3 |
T |
A |
4: 135,506,679 (GRCm39) |
L484Q |
probably benign |
Het |
Nav2 |
T |
A |
7: 49,232,623 (GRCm39) |
M1860K |
probably damaging |
Het |
Nipbl |
C |
T |
15: 8,353,131 (GRCm39) |
|
probably null |
Het |
Nsun7 |
T |
A |
5: 66,433,992 (GRCm39) |
I214K |
probably damaging |
Het |
Or5k17 |
T |
C |
16: 58,746,126 (GRCm39) |
I269M |
probably benign |
Het |
Or8c20 |
C |
T |
9: 38,260,421 (GRCm39) |
S8L |
probably benign |
Het |
Osm |
T |
A |
11: 4,189,604 (GRCm39) |
N129K |
probably damaging |
Het |
Plce1 |
C |
T |
19: 38,707,997 (GRCm39) |
|
probably benign |
Het |
Plch1 |
A |
G |
3: 63,660,714 (GRCm39) |
F302L |
probably damaging |
Het |
Pld2 |
T |
C |
11: 70,431,751 (GRCm39) |
V27A |
possibly damaging |
Het |
Prex2 |
A |
G |
1: 11,274,378 (GRCm39) |
D1350G |
probably benign |
Het |
Psme4 |
T |
A |
11: 30,792,083 (GRCm39) |
V1190D |
probably damaging |
Het |
Sema3g |
G |
T |
14: 30,949,823 (GRCm39) |
R668L |
probably damaging |
Het |
Sprr2f |
T |
A |
3: 92,273,204 (GRCm39) |
M1K |
probably null |
Het |
Sult6b2 |
G |
A |
6: 142,747,447 (GRCm39) |
P101S |
probably damaging |
Het |
Trem3 |
G |
A |
17: 48,556,864 (GRCm39) |
V112I |
probably benign |
Het |
Ttll9 |
T |
A |
2: 152,842,117 (GRCm39) |
F324I |
possibly damaging |
Het |
Ttn |
T |
A |
2: 76,557,104 (GRCm39) |
D29967V |
probably damaging |
Het |
Ubr4 |
A |
G |
4: 139,163,516 (GRCm39) |
K2639E |
probably damaging |
Het |
Vwce |
T |
C |
19: 10,641,982 (GRCm39) |
|
probably null |
Het |
Zbtb14 |
T |
A |
17: 69,694,690 (GRCm39) |
D129E |
probably benign |
Het |
Zmym6 |
C |
T |
4: 126,972,295 (GRCm39) |
Q16* |
probably null |
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 |
IGL01898:Fam171a2
|
APN |
11 |
102,330,582 (GRCm39) |
missense |
possibly damaging |
0.88 |
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 |
2015-04-16 |