Incidental Mutation 'R1025:Alyref'
ID |
94906 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Alyref
|
Ensembl Gene |
ENSMUSG00000025134 |
Gene Name |
Aly/REF export factor |
Synonyms |
Refbp1, REF1, Thoc4 |
MMRRC Submission |
039127-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.952)
|
Stock # |
R1025 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
120485330-120489342 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to G
at 120486758 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Leucine
at position 168
(V168L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000026125
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026125]
[ENSMUST00000026128]
[ENSMUST00000093140]
|
AlphaFold |
O08583 |
PDB Structure |
SOLUTION STRUCTURE OF THE NUCLEAR FACTOR ALY RBD DOMAIN [SOLUTION NMR]
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000026125
AA Change: V168L
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000026125 Gene: ENSMUSG00000025134 AA Change: V168L
Domain | Start | End | E-Value | Type |
low complexity region
|
16 |
53 |
N/A |
INTRINSIC |
low complexity region
|
56 |
75 |
N/A |
INTRINSIC |
low complexity region
|
94 |
105 |
N/A |
INTRINSIC |
RRM
|
106 |
178 |
7.64e-20 |
SMART |
FoP_duplication
|
187 |
255 |
1.33e-12 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000026128
|
SMART Domains |
Protein: ENSMUSP00000026128 Gene: ENSMUSG00000025135
Domain | Start | End | E-Value | Type |
RING
|
23 |
76 |
4.48e-1 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000093140
|
SMART Domains |
Protein: ENSMUSP00000097714 Gene: ENSMUSG00000025135
Domain | Start | End | E-Value | Type |
RING
|
23 |
76 |
4.48e-1 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148114
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155325
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156685
|
Meta Mutation Damage Score |
0.3971 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 94.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 24 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700067P10Rik |
A |
T |
17: 48,401,030 (GRCm39) |
K105M |
probably damaging |
Het |
3110009E18Rik |
C |
T |
1: 120,099,192 (GRCm39) |
T95I |
probably damaging |
Het |
Acte1 |
A |
G |
7: 143,450,127 (GRCm39) |
Y291C |
probably damaging |
Het |
Ap1g1 |
G |
A |
8: 110,545,571 (GRCm39) |
A75T |
probably benign |
Het |
Atp8a2 |
T |
C |
14: 60,097,719 (GRCm39) |
K770E |
probably benign |
Het |
Baz2b |
T |
C |
2: 59,792,826 (GRCm39) |
N434S |
probably benign |
Het |
Cebpzos |
A |
G |
17: 79,225,817 (GRCm39) |
K11E |
probably damaging |
Het |
Cers1 |
A |
T |
8: 70,774,186 (GRCm39) |
I148F |
probably benign |
Het |
Cpne4 |
A |
T |
9: 104,871,057 (GRCm39) |
I300F |
possibly damaging |
Het |
Fsip2 |
C |
A |
2: 82,819,780 (GRCm39) |
S5171* |
probably null |
Het |
Gabra2 |
T |
C |
5: 71,130,938 (GRCm39) |
S297G |
probably damaging |
Het |
Irak3 |
A |
T |
10: 120,012,251 (GRCm39) |
I171N |
probably damaging |
Het |
Lama1 |
A |
G |
17: 68,059,893 (GRCm39) |
I661V |
probably benign |
Het |
Macf1 |
T |
C |
4: 123,367,609 (GRCm39) |
D2384G |
probably damaging |
Het |
Or14a260 |
T |
C |
7: 85,985,113 (GRCm39) |
M164V |
probably benign |
Het |
Or6b2b |
T |
A |
1: 92,419,445 (GRCm39) |
T11S |
probably benign |
Het |
Pdcd6ip |
G |
A |
9: 113,491,354 (GRCm39) |
L630F |
probably damaging |
Het |
Pkn2 |
A |
G |
3: 142,527,326 (GRCm39) |
|
probably null |
Het |
Slc26a4 |
T |
G |
12: 31,578,736 (GRCm39) |
D639A |
probably damaging |
Het |
Svep1 |
C |
T |
4: 58,087,817 (GRCm39) |
C1754Y |
possibly damaging |
Het |
Trpa1 |
C |
A |
1: 14,974,407 (GRCm39) |
M258I |
probably benign |
Het |
Vmn1r17 |
A |
T |
6: 57,338,240 (GRCm39) |
S42T |
probably benign |
Het |
Vmn2r57 |
A |
G |
7: 41,077,228 (GRCm39) |
F313L |
probably benign |
Het |
Zfp811 |
A |
G |
17: 33,017,618 (GRCm39) |
Y140H |
probably benign |
Het |
|
Other mutations in Alyref |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01482:Alyref
|
APN |
11 |
120,486,762 (GRCm39) |
missense |
possibly damaging |
0.87 |
IGL02210:Alyref
|
APN |
11 |
120,488,499 (GRCm39) |
missense |
possibly damaging |
0.78 |
IGL02372:Alyref
|
APN |
11 |
120,485,701 (GRCm39) |
unclassified |
probably benign |
|
IGL02424:Alyref
|
APN |
11 |
120,486,133 (GRCm39) |
missense |
probably benign |
0.07 |
IGL03102:Alyref
|
APN |
11 |
120,488,591 (GRCm39) |
missense |
possibly damaging |
0.65 |
R0234:Alyref
|
UTSW |
11 |
120,489,133 (GRCm39) |
missense |
probably damaging |
1.00 |
R1026:Alyref
|
UTSW |
11 |
120,486,758 (GRCm39) |
missense |
probably damaging |
0.97 |
R1951:Alyref
|
UTSW |
11 |
120,486,758 (GRCm39) |
missense |
probably damaging |
0.97 |
R1952:Alyref
|
UTSW |
11 |
120,486,758 (GRCm39) |
missense |
probably damaging |
0.97 |
R4591:Alyref
|
UTSW |
11 |
120,486,799 (GRCm39) |
missense |
probably benign |
0.23 |
R4905:Alyref
|
UTSW |
11 |
120,486,879 (GRCm39) |
splice site |
probably null |
|
R5116:Alyref
|
UTSW |
11 |
120,488,554 (GRCm39) |
missense |
probably benign |
0.06 |
R6450:Alyref
|
UTSW |
11 |
120,486,872 (GRCm39) |
missense |
probably benign |
0.00 |
R8156:Alyref
|
UTSW |
11 |
120,489,074 (GRCm39) |
missense |
probably benign |
|
R8192:Alyref
|
UTSW |
11 |
120,488,522 (GRCm39) |
missense |
probably benign |
0.00 |
R8821:Alyref
|
UTSW |
11 |
120,489,023 (GRCm39) |
frame shift |
probably null |
|
R9172:Alyref
|
UTSW |
11 |
120,486,842 (GRCm39) |
missense |
probably benign |
0.10 |
R9468:Alyref
|
UTSW |
11 |
120,486,790 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GGTTCACAAGAGGTTGGTCCAGATG -3'
(R):5'- TGGACAGTAACCCAGTTGTTCGC -3'
Sequencing Primer
(F):5'- CCAGATGTGTGGGGCAG -3'
(R):5'- GGCTGTCAGTCAAGTACCTCTAAAG -3'
|
Posted On |
2014-01-05 |