Incidental Mutation 'R0313:Wdr12'
| ID |
25305 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wdr12
|
| Ensembl Gene |
ENSMUSG00000026019 |
| Gene Name |
WD repeat domain 12 |
| Synonyms |
Ytm1p, 4933402C23Rik, Ytm1 |
| MMRRC Submission |
038523-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0313 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
60110520-60137659 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 60121738 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 271
(I271N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113148
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027173]
[ENSMUST00000117438]
[ENSMUST00000122038]
|
| AlphaFold |
Q9JJA4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000027173
AA Change: I271N
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000027173
Gene: ENSMUSG00000026019
AA Change: I271N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NLE
|
3 |
70 |
1.4e-20 |
PFAM |
|
low complexity region
|
78 |
87 |
N/A |
INTRINSIC |
|
WD40
|
91 |
127 |
5.97e-1 |
SMART |
|
WD40
|
129 |
171 |
5.77e-5 |
SMART |
|
WD40
|
178 |
217 |
2.04e-5 |
SMART |
|
WD40
|
246 |
284 |
1.41e-8 |
SMART |
|
WD40
|
287 |
325 |
2.69e-5 |
SMART |
|
WD40
|
331 |
371 |
4.34e-9 |
SMART |
|
WD40
|
375 |
413 |
3e-3 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000117438
AA Change: I271N
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000113494
Gene: ENSMUSG00000026019
AA Change: I271N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NLE
|
4 |
70 |
2e-19 |
PFAM |
|
low complexity region
|
78 |
87 |
N/A |
INTRINSIC |
|
WD40
|
91 |
127 |
5.97e-1 |
SMART |
|
WD40
|
129 |
171 |
5.77e-5 |
SMART |
|
WD40
|
178 |
217 |
2.04e-5 |
SMART |
|
WD40
|
246 |
284 |
1.41e-8 |
SMART |
|
WD40
|
287 |
325 |
2.69e-5 |
SMART |
|
WD40
|
331 |
371 |
4.34e-9 |
SMART |
|
WD40
|
375 |
413 |
3e-3 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000122038
AA Change: I271N
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000113148
Gene: ENSMUSG00000026019
AA Change: I271N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NLE
|
3 |
70 |
1.4e-20 |
PFAM |
|
low complexity region
|
78 |
87 |
N/A |
INTRINSIC |
|
WD40
|
91 |
127 |
5.97e-1 |
SMART |
|
WD40
|
129 |
171 |
5.77e-5 |
SMART |
|
WD40
|
178 |
217 |
2.04e-5 |
SMART |
|
WD40
|
246 |
284 |
1.41e-8 |
SMART |
|
WD40
|
287 |
325 |
2.69e-5 |
SMART |
|
WD40
|
331 |
371 |
4.34e-9 |
SMART |
|
WD40
|
375 |
413 |
3e-3 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136461
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147413
|
| Meta Mutation Damage Score |
0.9422 |
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.7%
- 10x: 94.9%
- 20x: 88.5%
|
| 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. This protein is highly similar to the mouse WD repeat domain 12 protein at the amino acid level. The protein encoded by this gene is a component of a nucleolar protein complex that affects maturation of the large ribosomal subunit.[provided by RefSeq, Dec 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg2 |
A |
G |
6: 58,649,082 (GRCm39) |
E309G |
probably benign |
Het |
| Ankmy1 |
C |
T |
1: 92,813,943 (GRCm39) |
G412D |
probably damaging |
Het |
| Cc2d1a |
G |
A |
8: 84,863,598 (GRCm39) |
T542I |
probably benign |
Het |
| Cldn18 |
T |
C |
9: 99,580,967 (GRCm39) |
I94V |
probably benign |
Het |
| Cobll1 |
G |
A |
2: 64,926,088 (GRCm39) |
R1195* |
probably null |
Het |
| Dnah7b |
A |
G |
1: 46,246,803 (GRCm39) |
T1660A |
probably damaging |
Het |
| Dzip3 |
G |
T |
16: 48,757,424 (GRCm39) |
Q870K |
probably damaging |
Het |
| Ebf4 |
T |
C |
2: 130,148,707 (GRCm39) |
|
probably benign |
Het |
| Ecpas |
A |
G |
4: 58,811,892 (GRCm39) |
I1411T |
probably benign |
Het |
| Esyt2 |
T |
C |
12: 116,311,428 (GRCm39) |
L439P |
probably damaging |
Het |
| Fbxl17 |
G |
A |
17: 63,663,846 (GRCm39) |
R67C |
probably damaging |
Het |
| Haspin |
A |
G |
11: 73,027,124 (GRCm39) |
V655A |
probably damaging |
Het |
| Kmt2c |
T |
C |
5: 25,549,928 (GRCm39) |
E1351G |
probably damaging |
Het |
| Lama2 |
C |
A |
10: 26,869,394 (GRCm39) |
|
probably null |
Het |
| Lcp1 |
A |
G |
14: 75,436,873 (GRCm39) |
E73G |
probably damaging |
Het |
| Ltv1 |
C |
T |
10: 13,058,604 (GRCm39) |
|
probably null |
Het |
| Mcmdc2 |
A |
G |
1: 10,002,366 (GRCm39) |
Y529C |
probably damaging |
Het |
| Myo3b |
T |
A |
2: 70,179,303 (GRCm39) |
Y1172* |
probably null |
Het |
| Ncf1 |
T |
C |
5: 134,258,421 (GRCm39) |
M1V |
probably null |
Het |
| Or4k47 |
C |
T |
2: 111,451,945 (GRCm39) |
S158N |
possibly damaging |
Het |
| Or6c8b |
A |
G |
10: 128,882,695 (GRCm39) |
V79A |
possibly damaging |
Het |
| Or8c10 |
T |
C |
9: 38,279,600 (GRCm39) |
S243P |
probably damaging |
Het |
| Pcif1 |
A |
T |
2: 164,726,339 (GRCm39) |
H80L |
probably damaging |
Het |
| Pclo |
T |
C |
5: 14,728,887 (GRCm39) |
|
probably benign |
Het |
| Polr2a |
T |
C |
11: 69,625,906 (GRCm39) |
Y1710C |
unknown |
Het |
| Ppp1r37 |
G |
A |
7: 19,267,923 (GRCm39) |
T324I |
probably damaging |
Het |
| Prmt1 |
T |
C |
7: 44,628,172 (GRCm39) |
D176G |
probably benign |
Het |
| Scn5a |
T |
C |
9: 119,363,637 (GRCm39) |
D501G |
probably damaging |
Het |
| Ska2 |
A |
G |
11: 87,008,640 (GRCm39) |
I89M |
possibly damaging |
Het |
| Slc39a7 |
G |
A |
17: 34,248,518 (GRCm39) |
A375V |
probably damaging |
Het |
| Ssrp1 |
T |
A |
2: 84,871,898 (GRCm39) |
I374N |
probably damaging |
Het |
| Stox2 |
C |
T |
8: 47,645,169 (GRCm39) |
G828R |
probably damaging |
Het |
| Tcam1 |
G |
A |
11: 106,174,904 (GRCm39) |
E120K |
probably benign |
Het |
| Uqcrc1 |
C |
A |
9: 108,777,642 (GRCm39) |
R114S |
possibly damaging |
Het |
| Usp38 |
A |
T |
8: 81,711,071 (GRCm39) |
L988* |
probably null |
Het |
| Vmn2r5 |
T |
A |
3: 64,411,248 (GRCm39) |
H440L |
probably benign |
Het |
| Xylt2 |
C |
T |
11: 94,560,720 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Wdr12 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01613:Wdr12
|
APN |
1 |
60,119,718 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0684:Wdr12
|
UTSW |
1 |
60,128,525 (GRCm39) |
splice site |
probably benign |
|
|
R1157:Wdr12
|
UTSW |
1 |
60,117,389 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1411:Wdr12
|
UTSW |
1 |
60,127,231 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1539:Wdr12
|
UTSW |
1 |
60,123,007 (GRCm39) |
splice site |
probably null |
|
|
R2075:Wdr12
|
UTSW |
1 |
60,130,222 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R3113:Wdr12
|
UTSW |
1 |
60,126,221 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4533:Wdr12
|
UTSW |
1 |
60,117,354 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5153:Wdr12
|
UTSW |
1 |
60,133,670 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5196:Wdr12
|
UTSW |
1 |
60,126,243 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6603:Wdr12
|
UTSW |
1 |
60,121,783 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7310:Wdr12
|
UTSW |
1 |
60,121,734 (GRCm39) |
nonsense |
probably null |
|
|
R7466:Wdr12
|
UTSW |
1 |
60,133,670 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7621:Wdr12
|
UTSW |
1 |
60,136,748 (GRCm39) |
start gained |
probably benign |
|
|
R7805:Wdr12
|
UTSW |
1 |
60,136,753 (GRCm39) |
start gained |
probably benign |
|
|
R7846:Wdr12
|
UTSW |
1 |
60,121,225 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8008:Wdr12
|
UTSW |
1 |
60,128,494 (GRCm39) |
nonsense |
probably null |
|
|
R8781:Wdr12
|
UTSW |
1 |
60,126,300 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8932:Wdr12
|
UTSW |
1 |
60,130,202 (GRCm39) |
missense |
probably benign |
|
|
R9202:Wdr12
|
UTSW |
1 |
60,121,205 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9317:Wdr12
|
UTSW |
1 |
60,128,455 (GRCm39) |
missense |
probably benign |
|
|
R9606:Wdr12
|
UTSW |
1 |
60,127,226 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
Z1176:Wdr12
|
UTSW |
1 |
60,121,723 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGTCTGTGCTTCCAGATGCCAA -3'
(R):5'- AGCCACTGGGCAAACAACCTGT -3'
Sequencing Primer
(F):5'- TTCCTGTCTGAAAAAGAAAAAGAAAG -3'
(R):5'- gcctccctctgcctcttg -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation