Incidental Mutation 'R1026:Alyref'
ID |
94989 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Alyref
|
Ensembl Gene |
ENSMUSG00000025134 |
Gene Name |
Aly/REF export factor |
Synonyms |
Refbp1, REF1, Thoc4 |
MMRRC Submission |
039128-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.952)
|
Stock # |
R1026 (G1)
|
Quality Score |
223 |
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: 98.8%
- 3x: 97.7%
- 10x: 94.5%
- 20x: 87.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 15 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Cdc42bpg |
T |
C |
19: 6,367,217 (GRCm39) |
C919R |
probably damaging |
Het |
Cgnl1 |
A |
G |
9: 71,624,713 (GRCm39) |
S620P |
possibly damaging |
Het |
Fbxw10 |
A |
G |
11: 62,765,997 (GRCm39) |
T756A |
probably benign |
Het |
Fsip2 |
T |
C |
2: 82,818,805 (GRCm39) |
I4846T |
possibly damaging |
Het |
Hebp2 |
G |
T |
10: 18,420,163 (GRCm39) |
T90K |
possibly damaging |
Het |
Map4k5 |
T |
C |
12: 69,921,062 (GRCm39) |
K52R |
possibly damaging |
Het |
Neb |
T |
A |
2: 52,154,122 (GRCm39) |
M2330L |
possibly damaging |
Het |
Or14a258 |
T |
A |
7: 86,035,467 (GRCm39) |
M134L |
probably damaging |
Het |
Or8k21 |
T |
C |
2: 86,145,558 (GRCm39) |
Q24R |
possibly damaging |
Het |
Plekhf1 |
C |
A |
7: 37,921,065 (GRCm39) |
A168S |
probably benign |
Het |
Ppp1r12a |
A |
G |
10: 108,087,720 (GRCm39) |
T58A |
probably benign |
Het |
Prss23 |
T |
A |
7: 89,159,166 (GRCm39) |
Y301F |
probably benign |
Het |
R3hdm1 |
A |
G |
1: 128,124,742 (GRCm39) |
Y343C |
probably damaging |
Het |
Zcchc17 |
C |
T |
4: 130,223,403 (GRCm39) |
V128I |
possibly damaging |
Het |
Zfp960 |
T |
A |
17: 17,308,518 (GRCm39) |
C411S |
probably damaging |
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 |
R1025: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 |