Incidental Mutation 'R1323:Fam171a2'
ID |
157743 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fam171a2
|
Ensembl Gene |
ENSMUSG00000034685 |
Gene Name |
family with sequence similarity 171, member A2 |
Synonyms |
|
MMRRC Submission |
039389-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.172)
|
Stock # |
R1323 (G1)
|
Quality Score |
218 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
102327807-102338508 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 102334951 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Alanine
at position 62
(D62A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000038486
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049057]
|
AlphaFold |
A2A699 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000049057
AA Change: D62A
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000038486 Gene: ENSMUSG00000034685 AA Change: D62A
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
Pfam:UPF0560
|
41 |
820 |
N/A |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145190
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152015
|
Coding Region Coverage |
- 1x: 98.3%
- 3x: 96.6%
- 10x: 89.2%
- 20x: 70.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 21 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
C |
A |
11: 9,240,937 (GRCm39) |
F933L |
possibly damaging |
Het |
Abcc8 |
T |
G |
7: 45,766,786 (GRCm39) |
Q998P |
probably benign |
Het |
Akr1e1 |
C |
T |
13: 4,657,547 (GRCm39) |
G17E |
probably damaging |
Het |
D630045J12Rik |
T |
C |
6: 38,125,443 (GRCm39) |
I1524V |
probably damaging |
Het |
Elovl1 |
T |
C |
4: 118,288,851 (GRCm39) |
L103P |
possibly damaging |
Het |
Frzb |
G |
A |
2: 80,243,720 (GRCm39) |
P320S |
probably benign |
Het |
Fsip2 |
G |
T |
2: 82,816,096 (GRCm39) |
G3943V |
probably damaging |
Het |
Ftdc1 |
G |
A |
16: 58,437,278 (GRCm39) |
P10L |
possibly damaging |
Het |
Grm8 |
A |
G |
6: 28,125,973 (GRCm39) |
L51P |
probably damaging |
Het |
H2af-ps2 |
T |
G |
13: 51,357,100 (GRCm39) |
|
noncoding transcript |
Het |
Hnf4g |
T |
C |
3: 3,699,281 (GRCm39) |
S4P |
possibly damaging |
Het |
Megf8 |
T |
A |
7: 25,059,527 (GRCm39) |
|
probably null |
Het |
Mtnr1b |
A |
G |
9: 15,774,432 (GRCm39) |
F209S |
probably damaging |
Het |
Nckipsd |
G |
A |
9: 108,689,778 (GRCm39) |
R313Q |
probably damaging |
Het |
Nrbp1 |
T |
A |
5: 31,403,157 (GRCm39) |
I210N |
probably damaging |
Het |
Paqr5 |
C |
T |
9: 61,868,810 (GRCm39) |
|
probably null |
Het |
S100a14 |
T |
C |
3: 90,435,043 (GRCm39) |
V18A |
probably damaging |
Het |
Sycp2 |
A |
T |
2: 177,989,414 (GRCm39) |
S1441R |
possibly damaging |
Het |
Vmn2r101 |
G |
A |
17: 19,832,313 (GRCm39) |
D770N |
probably damaging |
Het |
Vmn2r114 |
ATTT |
ATT |
17: 23,509,906 (GRCm39) |
|
probably null |
Het |
Zfp600 |
A |
G |
4: 146,133,261 (GRCm39) |
Y643C |
probably 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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- CCGCAAGGACTATTTTGGGAAGGG -3'
(R):5'- GCTGATTTTGGCAGAGAGCACAAC -3'
Sequencing Primer
(F):5'- AGCTGCTGTCCAACCCG -3'
(R):5'- GCACAACTCACAGACAGAGG -3'
|
Posted On |
2014-02-18 |