Incidental Mutation 'R5732:Fam171a2'
ID |
451504 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fam171a2
|
Ensembl Gene |
ENSMUSG00000034685 |
Gene Name |
family with sequence similarity 171, member A2 |
Synonyms |
|
MMRRC Submission |
043347-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.172)
|
Stock # |
R5732 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
102327807-102338508 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 102330807 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 224
(E224G)
|
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: E224G
PolyPhen 2
Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000038486 Gene: ENSMUSG00000034685 AA Change: E224G
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: ENSMUST00000152015
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176953
|
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 |
- 1x: 99.0%
- 3x: 98.3%
- 10x: 96.8%
- 20x: 94.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acaa1b |
T |
A |
9: 118,977,462 (GRCm39) |
M407L |
possibly damaging |
Het |
Acsf2 |
T |
C |
11: 94,460,768 (GRCm39) |
|
probably benign |
Het |
Apob |
A |
G |
12: 8,060,353 (GRCm39) |
D2945G |
probably benign |
Het |
Atg2a |
T |
C |
19: 6,307,490 (GRCm39) |
Y1475H |
probably damaging |
Het |
Capn5 |
A |
G |
7: 97,778,593 (GRCm39) |
L342P |
possibly damaging |
Het |
Ccdc152 |
A |
G |
15: 3,321,860 (GRCm39) |
|
probably null |
Het |
Ccdc7b |
A |
G |
8: 129,799,195 (GRCm39) |
M91V |
possibly damaging |
Het |
Cd3g |
T |
C |
9: 44,884,929 (GRCm39) |
E105G |
possibly damaging |
Het |
Cdadc1 |
A |
G |
14: 59,834,360 (GRCm39) |
L44P |
probably damaging |
Het |
Cdh23 |
A |
G |
10: 60,167,096 (GRCm39) |
V1852A |
possibly damaging |
Het |
Cdx2 |
T |
C |
5: 147,238,833 (GRCm39) |
Q252R |
possibly damaging |
Het |
Cps1 |
A |
T |
1: 67,196,923 (GRCm39) |
I325F |
probably benign |
Het |
Dctn1 |
G |
A |
6: 83,174,931 (GRCm39) |
|
probably null |
Het |
Dcun1d3 |
T |
C |
7: 119,457,256 (GRCm39) |
K152R |
probably benign |
Het |
Dhx35 |
G |
A |
2: 158,673,705 (GRCm39) |
V379M |
probably damaging |
Het |
Flt1 |
G |
T |
5: 147,571,293 (GRCm39) |
Y671* |
probably null |
Het |
Fndc3b |
T |
C |
3: 27,515,922 (GRCm39) |
Y628C |
probably damaging |
Het |
Foxj3 |
A |
T |
4: 119,443,008 (GRCm39) |
D144V |
probably damaging |
Het |
Gp2 |
A |
G |
7: 119,048,331 (GRCm39) |
V429A |
probably damaging |
Het |
Hydin |
T |
A |
8: 111,178,690 (GRCm39) |
I1095N |
probably benign |
Het |
Kat2a |
A |
G |
11: 100,599,066 (GRCm39) |
F571S |
probably damaging |
Het |
Kcnq1 |
C |
A |
7: 142,702,493 (GRCm39) |
|
probably benign |
Het |
Letm2 |
A |
C |
8: 26,077,341 (GRCm39) |
S250A |
possibly damaging |
Het |
Llgl1 |
T |
C |
11: 60,600,286 (GRCm39) |
V545A |
probably benign |
Het |
Lrfn3 |
T |
C |
7: 30,059,031 (GRCm39) |
D398G |
probably benign |
Het |
Lrig1 |
G |
T |
6: 94,676,520 (GRCm39) |
C49* |
probably null |
Het |
Mug1 |
A |
G |
6: 121,855,452 (GRCm39) |
I929V |
probably benign |
Het |
Naaa |
G |
A |
5: 92,411,314 (GRCm39) |
T291I |
probably damaging |
Het |
Ndufaf1 |
G |
A |
2: 119,490,521 (GRCm39) |
Q180* |
probably null |
Het |
Nr3c1 |
A |
T |
18: 39,548,752 (GRCm39) |
H741Q |
probably damaging |
Het |
Nsun5 |
T |
C |
5: 135,400,204 (GRCm39) |
L109P |
probably damaging |
Het |
Pacsin3 |
A |
G |
2: 91,090,605 (GRCm39) |
E18G |
probably damaging |
Het |
Rpgr |
G |
A |
X: 10,032,511 (GRCm39) |
P857L |
probably benign |
Het |
Siglec1 |
G |
A |
2: 130,916,188 (GRCm39) |
T1254M |
probably benign |
Het |
Slc35a4 |
A |
T |
18: 36,815,394 (GRCm39) |
T75S |
probably benign |
Het |
Slc52a2 |
T |
C |
15: 76,425,274 (GRCm39) |
I434T |
probably benign |
Het |
Slco2a1 |
C |
T |
9: 102,927,455 (GRCm39) |
T116I |
probably damaging |
Het |
Snrpd2 |
T |
C |
7: 18,886,538 (GRCm39) |
|
probably null |
Het |
Tbc1d32 |
T |
A |
10: 55,964,489 (GRCm39) |
L903F |
probably damaging |
Het |
Tex10 |
G |
T |
4: 48,460,046 (GRCm39) |
T435K |
probably damaging |
Het |
Tmem266 |
T |
C |
9: 55,288,120 (GRCm39) |
S66P |
probably damaging |
Het |
Top2b |
A |
T |
14: 16,400,106 (GRCm38) |
E581D |
possibly damaging |
Het |
Uggt1 |
A |
T |
1: 36,200,852 (GRCm39) |
|
probably null |
Het |
Wdr47 |
T |
A |
3: 108,540,472 (GRCm39) |
Y622* |
probably null |
Het |
Zfp644 |
A |
T |
5: 106,784,989 (GRCm39) |
H519Q |
probably damaging |
Het |
Zfp687 |
T |
C |
3: 94,918,528 (GRCm39) |
M415V |
possibly damaging |
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 |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- ATGTTCTGCCACCTCCAACAG -3'
(R):5'- TGTCAGTTCCACCTACAGCC -3'
Sequencing Primer
(F):5'- AGAAGCCCCATCCTCTAGC -3'
(R):5'- AGGAAATGCGGGCTTTCC -3'
|
Posted On |
2017-01-03 |