Incidental Mutation 'IGL01089:Fam171a2'
| ID |
52264 |
| 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 # |
IGL01089
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
102327807-102338508 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 102328674 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 695
(A695V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038486
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049057]
[ENSMUST00000049460]
[ENSMUST00000125819]
[ENSMUST00000129997]
|
| AlphaFold |
A2A699 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000049057
AA Change: A695V
PolyPhen 2
Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000038486
Gene: ENSMUSG00000034685
AA Change: A695V
| 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 |
probably benign
Transcript: ENSMUST00000129997
|
| SMART Domains |
Protein: ENSMUSP00000135739
Gene: ENSMUSG00000034708
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
GRAN
|
61 |
112 |
1.32e-22 |
SMART |
|
GRAN
|
125 |
177 |
7.38e-26 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135517
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145190
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152015
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176953
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138451
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148580
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr8 |
T |
C |
14: 29,710,292 (GRCm39) |
L353S |
probably damaging |
Het |
| Adgrf2 |
G |
A |
17: 43,021,049 (GRCm39) |
P592S |
probably damaging |
Het |
| Aen |
G |
A |
7: 78,557,050 (GRCm39) |
M299I |
probably damaging |
Het |
| Afap1l2 |
A |
C |
19: 56,901,843 (GRCm39) |
|
probably null |
Het |
| Asnsd1 |
G |
A |
1: 53,387,436 (GRCm39) |
P64S |
probably damaging |
Het |
| Bmt2 |
A |
G |
6: 13,663,270 (GRCm39) |
M76T |
probably damaging |
Het |
| Clca3b |
A |
T |
3: 144,529,283 (GRCm39) |
V797D |
probably benign |
Het |
| Cog2 |
T |
C |
8: 125,271,982 (GRCm39) |
S499P |
probably benign |
Het |
| Cyp27a1 |
A |
T |
1: 74,771,097 (GRCm39) |
Y94F |
possibly damaging |
Het |
| D630045J12Rik |
A |
G |
6: 38,113,898 (GRCm39) |
S1765P |
probably benign |
Het |
| Fam149a |
A |
G |
8: 45,801,564 (GRCm39) |
L519P |
possibly damaging |
Het |
| Fat1 |
T |
A |
8: 45,470,894 (GRCm39) |
V1566E |
probably damaging |
Het |
| Flvcr1 |
T |
G |
1: 190,745,587 (GRCm39) |
N361H |
probably damaging |
Het |
| Gm1110 |
T |
C |
9: 26,793,156 (GRCm39) |
N540S |
probably benign |
Het |
| Katnip |
A |
G |
7: 125,394,485 (GRCm39) |
E187G |
probably damaging |
Het |
| Kcns3 |
T |
A |
12: 11,141,572 (GRCm39) |
T376S |
possibly damaging |
Het |
| Krt32 |
A |
G |
11: 99,978,605 (GRCm39) |
S150P |
probably benign |
Het |
| Liat1 |
A |
G |
11: 75,894,163 (GRCm39) |
E180G |
possibly damaging |
Het |
| Lrtm2 |
C |
T |
6: 119,297,753 (GRCm39) |
R96Q |
possibly damaging |
Het |
| Mctp1 |
A |
G |
13: 77,168,917 (GRCm39) |
E838G |
probably damaging |
Het |
| Mios |
T |
C |
6: 8,234,363 (GRCm39) |
|
probably null |
Het |
| Or1j10 |
A |
T |
2: 36,267,178 (GRCm39) |
Y130F |
probably damaging |
Het |
| Phldb1 |
T |
A |
9: 44,619,184 (GRCm39) |
K167* |
probably null |
Het |
| Pkhd1l1 |
A |
G |
15: 44,347,265 (GRCm39) |
|
probably benign |
Het |
| Plaa |
A |
G |
4: 94,462,284 (GRCm39) |
V531A |
probably benign |
Het |
| Psmb2 |
A |
G |
4: 126,577,999 (GRCm39) |
Y59C |
probably damaging |
Het |
| Ptprg |
A |
G |
14: 12,215,286 (GRCm38) |
H1091R |
probably damaging |
Het |
| Rbm44 |
T |
A |
1: 91,096,419 (GRCm39) |
V926D |
possibly damaging |
Het |
| Rgma |
G |
T |
7: 73,059,462 (GRCm39) |
V189L |
possibly damaging |
Het |
| Sbf2 |
A |
T |
7: 109,948,169 (GRCm39) |
I1227K |
probably damaging |
Het |
| Slc8a1 |
T |
C |
17: 81,955,710 (GRCm39) |
T443A |
probably damaging |
Het |
| Slc8a1 |
A |
G |
17: 81,696,310 (GRCm39) |
V896A |
probably damaging |
Het |
| Taf2 |
T |
C |
15: 54,879,977 (GRCm39) |
M1120V |
probably benign |
Het |
| Ugt2b34 |
C |
T |
5: 87,054,185 (GRCm39) |
V199I |
probably benign |
Het |
| Unc5c |
C |
A |
3: 141,523,963 (GRCm39) |
|
probably benign |
Het |
| Usp37 |
G |
A |
1: 74,532,205 (GRCm39) |
R63* |
probably null |
Het |
|
| Other mutations in Fam171a2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01898:Fam171a2
|
APN |
11 |
102,330,582 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
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 |
2013-06-21 |
Incidental Mutation