Incidental Mutation 'R0733:Fam171a2'
| ID |
67124 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fam171a2
|
| Ensembl Gene |
ENSMUSG00000034685 |
| Gene Name |
family with sequence similarity 171, member A2 |
| Synonyms |
|
| MMRRC Submission |
038914-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.185)
|
| Stock # |
R0733 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
102327807-102338508 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 102330548 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 278
(Y278F)
|
| 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: Y278F
PolyPhen 2
Score 0.833 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000038486
Gene: ENSMUSG00000034685
AA Change: Y278F
| 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 |
|
| Meta Mutation Damage Score |
0.0855 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.7%
- 20x: 95.9%
|
| Validation Efficiency |
98% (60/61) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abl1 |
A |
G |
2: 31,668,957 (GRCm39) |
Y88C |
probably damaging |
Het |
| Acbd3 |
A |
G |
1: 180,579,783 (GRCm39) |
I476V |
possibly damaging |
Het |
| Apba2 |
T |
C |
7: 64,399,912 (GRCm39) |
I689T |
probably damaging |
Het |
| AU018091 |
A |
G |
7: 3,209,001 (GRCm39) |
Y362H |
probably damaging |
Het |
| Castor2 |
T |
C |
5: 134,165,054 (GRCm39) |
F208L |
possibly damaging |
Het |
| Cdh26 |
T |
C |
2: 178,128,724 (GRCm39) |
S759P |
probably damaging |
Het |
| Clcc1 |
A |
G |
3: 108,582,056 (GRCm39) |
Q387R |
probably benign |
Het |
| Cobl |
C |
T |
11: 12,315,167 (GRCm39) |
G259R |
probably benign |
Het |
| Col4a1 |
C |
T |
8: 11,268,934 (GRCm39) |
R968Q |
possibly damaging |
Het |
| Ddr2 |
A |
G |
1: 169,832,381 (GRCm39) |
|
probably benign |
Het |
| Dera |
C |
A |
6: 137,773,846 (GRCm39) |
N201K |
probably damaging |
Het |
| Dsg1a |
A |
C |
18: 20,471,725 (GRCm39) |
E659A |
probably damaging |
Het |
| Dus2 |
G |
T |
8: 106,772,702 (GRCm39) |
|
probably null |
Het |
| Ears2 |
T |
A |
7: 121,647,352 (GRCm39) |
I311F |
possibly damaging |
Het |
| Eml4 |
T |
A |
17: 83,761,893 (GRCm39) |
M417K |
possibly damaging |
Het |
| Exosc4 |
A |
T |
15: 76,213,616 (GRCm39) |
M147L |
probably benign |
Het |
| Fastk |
A |
C |
5: 24,648,921 (GRCm39) |
H155Q |
probably null |
Het |
| Fem1b |
G |
T |
9: 62,704,125 (GRCm39) |
N378K |
possibly damaging |
Het |
| Fut11 |
C |
A |
14: 20,745,427 (GRCm39) |
Y119* |
probably null |
Het |
| Gm6797 |
T |
C |
X: 8,511,388 (GRCm39) |
|
noncoding transcript |
Het |
| Gstt4 |
T |
C |
10: 75,653,148 (GRCm39) |
D138G |
probably benign |
Het |
| Hprt1 |
G |
A |
X: 52,091,027 (GRCm39) |
C66Y |
probably damaging |
Het |
| Inpp5d |
T |
A |
1: 87,595,799 (GRCm39) |
|
probably benign |
Het |
| Ints6l |
T |
A |
X: 55,547,108 (GRCm39) |
S621T |
probably benign |
Het |
| Ints6l |
C |
G |
X: 55,550,172 (GRCm39) |
A699G |
probably benign |
Het |
| Kctd3 |
A |
G |
1: 188,729,247 (GRCm39) |
|
probably benign |
Het |
| Kntc1 |
G |
T |
5: 123,928,979 (GRCm39) |
V1252L |
probably null |
Het |
| Lama5 |
A |
T |
2: 179,822,511 (GRCm39) |
M2854K |
possibly damaging |
Het |
| Lcn5 |
G |
T |
2: 25,551,113 (GRCm39) |
L187F |
probably damaging |
Het |
| Lrp3 |
A |
T |
7: 34,901,545 (GRCm39) |
L758M |
possibly damaging |
Het |
| Ltn1 |
T |
A |
16: 87,209,395 (GRCm39) |
I740F |
probably benign |
Het |
| Mcm5 |
A |
G |
8: 75,853,876 (GRCm39) |
K710R |
probably benign |
Het |
| Mllt10 |
A |
G |
2: 18,208,577 (GRCm39) |
|
probably benign |
Het |
| Nbr1 |
T |
A |
11: 101,467,197 (GRCm39) |
M864K |
probably benign |
Het |
| Nkiras2 |
T |
C |
11: 100,515,758 (GRCm39) |
|
probably null |
Het |
| Nlrp4d |
T |
A |
7: 10,116,449 (GRCm39) |
E144V |
probably benign |
Het |
| Nppc |
T |
C |
1: 86,597,356 (GRCm39) |
|
probably benign |
Het |
| Ormdl2 |
T |
A |
10: 128,655,868 (GRCm39) |
Q94L |
probably damaging |
Het |
| Paox |
G |
C |
7: 139,707,440 (GRCm39) |
D88H |
probably damaging |
Het |
| Prl7a2 |
T |
C |
13: 27,846,671 (GRCm39) |
E114G |
probably damaging |
Het |
| Prpsap2 |
A |
G |
11: 61,631,826 (GRCm39) |
I177T |
possibly damaging |
Het |
| Prss54 |
T |
C |
8: 96,286,368 (GRCm39) |
D235G |
possibly damaging |
Het |
| Rwdd3 |
T |
C |
3: 120,965,256 (GRCm39) |
M24V |
probably benign |
Het |
| Serpinb6e |
T |
A |
13: 34,025,201 (GRCm39) |
N30I |
probably benign |
Het |
| Sh3rf1 |
G |
A |
8: 61,825,594 (GRCm39) |
A530T |
probably benign |
Het |
| Slc28a1 |
T |
C |
7: 80,774,648 (GRCm39) |
I165T |
probably benign |
Het |
| Slco6d1 |
T |
A |
1: 98,355,994 (GRCm39) |
L143* |
probably null |
Het |
| Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
| Snx27 |
A |
G |
3: 94,469,320 (GRCm39) |
L7P |
probably benign |
Het |
| Spata31e2 |
T |
A |
1: 26,722,013 (GRCm39) |
T1056S |
possibly damaging |
Het |
| Spsb1 |
C |
T |
4: 149,991,374 (GRCm39) |
V65I |
probably benign |
Het |
| St8sia2 |
C |
T |
7: 73,610,588 (GRCm39) |
G232S |
probably benign |
Het |
| Sun1 |
A |
G |
5: 139,216,918 (GRCm39) |
H255R |
possibly damaging |
Het |
| Tent2 |
T |
A |
13: 93,291,547 (GRCm39) |
Q365L |
probably benign |
Het |
| Ube2k |
A |
G |
5: 65,738,795 (GRCm39) |
I95V |
probably damaging |
Het |
| Ube2m |
C |
A |
7: 12,769,679 (GRCm39) |
E126D |
probably damaging |
Het |
| Vmn2r27 |
A |
T |
6: 124,169,147 (GRCm39) |
M661K |
probably benign |
Het |
| Wdr47 |
A |
T |
3: 108,525,939 (GRCm39) |
D154V |
probably damaging |
Het |
| Zfp113 |
A |
G |
5: 138,143,845 (GRCm39) |
V135A |
probably benign |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CAGGATCGTCAGCAGGAAGATTGTG -3'
(R):5'- GGTTTGACCCCAAGAGTGGTAAGTG -3'
Sequencing Primer
(F):5'- CCAATGTCCTGAATGCCTGAG -3'
(R):5'- CCCCAAGAGTGGTAAGTGTTAGG -3'
|
| Posted On |
2013-09-03 |
Incidental Mutation