Incidental Mutation 'R1073:Wdr37'
ID |
85545 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Wdr37
|
Ensembl Gene |
ENSMUSG00000021147 |
Gene Name |
WD repeat domain 37 |
Synonyms |
4933417A01Rik, 3110035P10Rik |
MMRRC Submission |
039159-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1073 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
8853004-8921945 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 8855876 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 489
(I489N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000062174
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021572]
[ENSMUST00000054251]
|
AlphaFold |
Q8CBE3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000021572
AA Change: I489N
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000021572 Gene: ENSMUSG00000021147 AA Change: I489N
Domain | Start | End | E-Value | Type |
coiled coil region
|
63 |
101 |
N/A |
INTRINSIC |
WD40
|
145 |
185 |
9.75e-3 |
SMART |
WD40
|
188 |
227 |
4.27e-8 |
SMART |
WD40
|
272 |
311 |
1.06e-3 |
SMART |
WD40
|
314 |
353 |
4.91e-8 |
SMART |
WD40
|
358 |
396 |
2.38e-6 |
SMART |
Blast:WD40
|
400 |
438 |
8e-17 |
BLAST |
WD40
|
445 |
486 |
6.19e-1 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000054251
AA Change: I489N
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000062174 Gene: ENSMUSG00000021147 AA Change: I489N
Domain | Start | End | E-Value | Type |
coiled coil region
|
63 |
101 |
N/A |
INTRINSIC |
WD40
|
145 |
185 |
9.75e-3 |
SMART |
WD40
|
188 |
227 |
4.27e-8 |
SMART |
WD40
|
272 |
311 |
1.06e-3 |
SMART |
WD40
|
314 |
353 |
4.91e-8 |
SMART |
WD40
|
358 |
396 |
2.38e-6 |
SMART |
Blast:WD40
|
400 |
438 |
8e-17 |
BLAST |
WD40
|
445 |
486 |
6.19e-1 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000177537
|
Meta Mutation Damage Score |
0.2266 |
Coding Region Coverage |
- 1x: 99.7%
- 3x: 99.1%
- 10x: 97.5%
- 20x: 94.5%
|
Validation Efficiency |
98% (40/41) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Asap3 |
T |
C |
4: 135,963,742 (GRCm39) |
I334T |
probably damaging |
Het |
Atxn7l3 |
C |
G |
11: 102,183,261 (GRCm39) |
|
probably benign |
Het |
Cacna2d3 |
T |
A |
14: 28,767,580 (GRCm39) |
H765L |
probably damaging |
Het |
Cngb1 |
A |
G |
8: 96,030,195 (GRCm39) |
|
probably null |
Het |
Csmd1 |
C |
T |
8: 16,408,477 (GRCm39) |
|
probably benign |
Het |
Cux1 |
A |
T |
5: 136,281,395 (GRCm39) |
|
probably null |
Het |
D7Ertd443e |
T |
C |
7: 133,871,947 (GRCm39) |
K232R |
probably damaging |
Het |
Dock6 |
A |
G |
9: 21,757,814 (GRCm39) |
S97P |
probably benign |
Het |
Eml5 |
G |
A |
12: 98,797,232 (GRCm39) |
A1099V |
probably damaging |
Het |
Gtf2h1 |
G |
A |
7: 46,466,368 (GRCm39) |
A472T |
probably damaging |
Het |
Krt82 |
T |
A |
15: 101,458,689 (GRCm39) |
D117V |
probably damaging |
Het |
Lrfn5 |
A |
G |
12: 61,887,595 (GRCm39) |
Y461C |
probably damaging |
Het |
Mmrn2 |
G |
A |
14: 34,118,251 (GRCm39) |
|
probably null |
Het |
Mrtfb |
T |
A |
16: 13,230,182 (GRCm39) |
S956T |
possibly damaging |
Het |
Msrb3 |
T |
A |
10: 120,620,041 (GRCm39) |
S93C |
possibly damaging |
Het |
Ncl |
AAAGCCTCCC |
AAAGCCTCCCAAGCCTCCC |
1: 86,278,538 (GRCm39) |
|
probably benign |
Het |
Or8k41 |
A |
G |
2: 86,313,984 (GRCm39) |
I34T |
probably damaging |
Het |
Osbpl10 |
C |
T |
9: 115,036,621 (GRCm39) |
Q381* |
probably null |
Het |
Pelp1 |
A |
G |
11: 70,287,416 (GRCm39) |
L464P |
probably damaging |
Het |
Pigs |
A |
G |
11: 78,226,431 (GRCm39) |
D216G |
probably benign |
Het |
Ptprk |
T |
C |
10: 28,372,943 (GRCm39) |
|
probably null |
Het |
Pyroxd1 |
T |
C |
6: 142,294,370 (GRCm39) |
|
probably null |
Het |
Ros1 |
T |
A |
10: 51,922,221 (GRCm39) |
D2284V |
probably damaging |
Het |
Rptor |
T |
C |
11: 119,634,717 (GRCm39) |
S178P |
possibly damaging |
Het |
Slc8a1 |
C |
T |
17: 81,955,836 (GRCm39) |
D401N |
probably damaging |
Het |
Tas2r143 |
T |
C |
6: 42,377,694 (GRCm39) |
Y175H |
probably benign |
Het |
Tdrd9 |
T |
C |
12: 111,989,693 (GRCm39) |
S502P |
probably damaging |
Het |
Tmem38a |
A |
G |
8: 73,333,947 (GRCm39) |
H142R |
probably damaging |
Het |
Tmem44 |
A |
G |
16: 30,333,651 (GRCm39) |
|
probably benign |
Het |
Ugt2b38 |
T |
G |
5: 87,560,232 (GRCm39) |
N361H |
probably damaging |
Het |
Umod |
A |
G |
7: 119,063,964 (GRCm39) |
V614A |
possibly damaging |
Het |
Vmn2r5 |
A |
T |
3: 64,398,726 (GRCm39) |
L751* |
probably null |
Het |
Xdh |
T |
C |
17: 74,246,831 (GRCm39) |
T78A |
probably benign |
Het |
Zfp866 |
A |
T |
8: 70,220,272 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Wdr37 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00231:Wdr37
|
APN |
13 |
8,870,541 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00753:Wdr37
|
APN |
13 |
8,911,210 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02479:Wdr37
|
APN |
13 |
8,892,820 (GRCm39) |
missense |
probably damaging |
1.00 |
profound
|
UTSW |
13 |
8,892,764 (GRCm39) |
critical splice donor site |
probably null |
|
radical
|
UTSW |
13 |
8,897,710 (GRCm39) |
splice site |
probably null |
|
R0885:Wdr37
|
UTSW |
13 |
8,885,288 (GRCm39) |
splice site |
probably null |
|
R1085:Wdr37
|
UTSW |
13 |
8,855,964 (GRCm39) |
missense |
probably damaging |
1.00 |
R1537:Wdr37
|
UTSW |
13 |
8,887,039 (GRCm39) |
missense |
probably benign |
0.01 |
R1538:Wdr37
|
UTSW |
13 |
8,886,828 (GRCm39) |
missense |
probably benign |
|
R1541:Wdr37
|
UTSW |
13 |
8,870,574 (GRCm39) |
missense |
probably benign |
0.26 |
R1868:Wdr37
|
UTSW |
13 |
8,886,887 (GRCm39) |
missense |
probably damaging |
1.00 |
R2240:Wdr37
|
UTSW |
13 |
8,911,268 (GRCm39) |
start gained |
probably benign |
|
R3815:Wdr37
|
UTSW |
13 |
8,903,632 (GRCm39) |
intron |
probably benign |
|
R3817:Wdr37
|
UTSW |
13 |
8,903,632 (GRCm39) |
intron |
probably benign |
|
R3818:Wdr37
|
UTSW |
13 |
8,903,632 (GRCm39) |
intron |
probably benign |
|
R3819:Wdr37
|
UTSW |
13 |
8,903,632 (GRCm39) |
intron |
probably benign |
|
R4721:Wdr37
|
UTSW |
13 |
8,904,065 (GRCm39) |
missense |
possibly damaging |
0.89 |
R5080:Wdr37
|
UTSW |
13 |
8,897,710 (GRCm39) |
splice site |
probably null |
|
R6297:Wdr37
|
UTSW |
13 |
8,892,764 (GRCm39) |
critical splice donor site |
probably null |
|
R6761:Wdr37
|
UTSW |
13 |
8,899,684 (GRCm39) |
missense |
probably benign |
0.07 |
R7505:Wdr37
|
UTSW |
13 |
8,869,971 (GRCm39) |
missense |
probably damaging |
1.00 |
R7840:Wdr37
|
UTSW |
13 |
8,886,911 (GRCm39) |
missense |
probably damaging |
0.96 |
R7873:Wdr37
|
UTSW |
13 |
8,855,969 (GRCm39) |
missense |
probably damaging |
0.99 |
R8081:Wdr37
|
UTSW |
13 |
8,885,406 (GRCm39) |
missense |
probably damaging |
1.00 |
R8311:Wdr37
|
UTSW |
13 |
8,903,609 (GRCm39) |
missense |
unknown |
|
R9030:Wdr37
|
UTSW |
13 |
8,885,424 (GRCm39) |
missense |
probably damaging |
1.00 |
R9452:Wdr37
|
UTSW |
13 |
8,897,663 (GRCm39) |
missense |
|
|
R9736:Wdr37
|
UTSW |
13 |
8,911,136 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- ACACTTCATGCAAGCTGGGCAC -3'
(R):5'- TGGCTCTGAAAGCCTTTTACCCTG -3'
Sequencing Primer
(F):5'- GGCACAATGTGAAAAGAACATATAC -3'
(R):5'- GAGTCACAGGTGCTTACATTAC -3'
|
Posted On |
2013-11-18 |