Incidental Mutation 'R7958:Wdr49'
| ID |
649935 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wdr49
|
| Ensembl Gene |
ENSMUSG00000104301 |
| Gene Name |
WD repeat domain 49 |
| Synonyms |
EG213248 |
| MMRRC Submission |
046002-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
R7958 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
75182295-75389463 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 75338454 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 21
(M21L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144721
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000193989]
[ENSMUST00000203169]
[ENSMUST00000204341]
|
| AlphaFold |
A0A0N4SUK7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193989
AA Change: M21L
PolyPhen 2
Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000144721
Gene: ENSMUSG00000104301
AA Change: M21L
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
17 |
55 |
1.3e-2 |
SMART |
|
WD40
|
59 |
98 |
2e-6 |
SMART |
|
WD40
|
145 |
184 |
2.5e-2 |
SMART |
|
WD40
|
187 |
228 |
3.6e-8 |
SMART |
|
WD40
|
281 |
318 |
8.7e-6 |
SMART |
|
WD40
|
365 |
412 |
2.2e-1 |
SMART |
|
WD40
|
415 |
455 |
8.4e-4 |
SMART |
|
WD40
|
471 |
512 |
3.1e-2 |
SMART |
|
Blast:SERPIN
|
608 |
673 |
7e-12 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203169
AA Change: M362L
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000144789
Gene: ENSMUSG00000104301
AA Change: M362L
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
136 |
176 |
2e-1 |
SMART |
|
WD40
|
178 |
224 |
1.8e0 |
SMART |
|
WD40
|
312 |
353 |
5.1e-1 |
SMART |
|
WD40
|
358 |
396 |
1.3e-2 |
SMART |
|
WD40
|
400 |
439 |
2e-6 |
SMART |
|
Blast:WD40
|
486 |
511 |
1e-7 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204341
AA Change: M299L
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000145379
Gene: ENSMUSG00000104301
AA Change: M299L
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
73 |
113 |
3.18e1 |
SMART |
|
WD40
|
115 |
161 |
2.74e2 |
SMART |
|
WD40
|
249 |
290 |
7.92e1 |
SMART |
|
WD40
|
295 |
333 |
1.99e0 |
SMART |
|
WD40
|
337 |
376 |
3.05e-4 |
SMART |
|
Blast:WD40
|
423 |
448 |
1e-7 |
BLAST |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (55/55) |
| 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 with nine WD repeats. 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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930590J08Rik |
A |
T |
6: 91,911,464 (GRCm39) |
T571S |
probably benign |
Het |
| Abca8a |
A |
G |
11: 109,922,498 (GRCm39) |
Y1362H |
probably damaging |
Het |
| Aldh1l2 |
C |
T |
10: 83,356,202 (GRCm39) |
V63I |
probably benign |
Het |
| Alg8 |
T |
C |
7: 97,036,128 (GRCm39) |
C340R |
possibly damaging |
Het |
| BC028528 |
T |
C |
3: 95,796,224 (GRCm39) |
D46G |
probably benign |
Het |
| Cdh5 |
A |
T |
8: 104,839,649 (GRCm39) |
H40L |
probably benign |
Het |
| Cul3 |
T |
C |
1: 80,249,274 (GRCm39) |
T666A |
probably benign |
Het |
| Cwc27 |
T |
C |
13: 104,941,472 (GRCm39) |
D150G |
probably benign |
Het |
| Cyp2a12 |
T |
A |
7: 26,728,677 (GRCm39) |
N49K |
probably benign |
Het |
| Dhrs4 |
T |
C |
14: 55,725,078 (GRCm39) |
L191P |
probably damaging |
Het |
| Dusp9 |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
X: 72,684,217 (GRCm39) |
|
probably benign |
Het |
| Fam171a1 |
T |
A |
2: 3,179,298 (GRCm39) |
S41R |
probably damaging |
Het |
| Fam186a |
A |
T |
15: 99,841,189 (GRCm39) |
L1685H |
probably damaging |
Het |
| Fgfr1 |
G |
T |
8: 26,022,358 (GRCm39) |
W2L |
probably benign |
Het |
| Fpr-rs6 |
T |
A |
17: 20,402,705 (GRCm39) |
I219F |
probably damaging |
Het |
| Gm28360 |
T |
A |
1: 117,781,409 (GRCm39) |
C133* |
probably null |
Het |
| Herc1 |
A |
G |
9: 66,393,475 (GRCm39) |
D4118G |
probably damaging |
Het |
| Hhatl |
A |
G |
9: 121,613,652 (GRCm39) |
|
probably null |
Het |
| Inpp4b |
T |
A |
8: 82,696,218 (GRCm39) |
L384H |
probably damaging |
Het |
| Klhl12 |
G |
A |
1: 134,395,455 (GRCm39) |
R139K |
probably benign |
Het |
| Klrg1 |
T |
A |
6: 122,248,331 (GRCm39) |
*189C |
probably null |
Het |
| Krtap19-4 |
A |
G |
16: 88,681,833 (GRCm39) |
F41S |
unknown |
Het |
| Lifr |
T |
C |
15: 7,211,478 (GRCm39) |
V672A |
possibly damaging |
Het |
| Lrrc25 |
A |
G |
8: 71,070,497 (GRCm39) |
T93A |
possibly damaging |
Het |
| Map7 |
T |
A |
10: 20,105,575 (GRCm39) |
S9T |
unknown |
Het |
| Mycbp2 |
A |
T |
14: 103,367,400 (GRCm39) |
F4281L |
probably benign |
Het |
| Myh10 |
A |
G |
11: 68,612,173 (GRCm39) |
I162V |
probably benign |
Het |
| Myo18a |
T |
C |
11: 77,732,383 (GRCm39) |
V1293A |
probably damaging |
Het |
| Nipbl |
A |
G |
15: 8,340,742 (GRCm39) |
S1993P |
possibly damaging |
Het |
| Nrp2 |
C |
T |
1: 62,784,567 (GRCm39) |
R239C |
probably damaging |
Het |
| Oas2 |
C |
T |
5: 120,886,831 (GRCm39) |
E112K |
probably benign |
Het |
| Oosp3 |
A |
T |
19: 11,682,820 (GRCm39) |
I163F |
probably benign |
Het |
| Or8a1 |
A |
G |
9: 37,641,682 (GRCm39) |
F199S |
probably damaging |
Het |
| Phkb |
G |
T |
8: 86,748,292 (GRCm39) |
E710D |
probably benign |
Het |
| Plekhg4 |
A |
T |
8: 106,103,281 (GRCm39) |
D318V |
possibly damaging |
Het |
| Potefam1 |
T |
C |
2: 111,000,670 (GRCm39) |
E183G |
unknown |
Het |
| Ptprj |
T |
C |
2: 90,299,971 (GRCm39) |
I277V |
possibly damaging |
Het |
| Ranbp17 |
A |
G |
11: 33,437,702 (GRCm39) |
S179P |
probably damaging |
Het |
| Scaf8 |
G |
A |
17: 3,221,397 (GRCm39) |
V295M |
unknown |
Het |
| Scn3a |
T |
A |
2: 65,336,537 (GRCm39) |
I690F |
probably damaging |
Het |
| Serpinb1b |
A |
T |
13: 33,273,636 (GRCm39) |
K110N |
possibly damaging |
Het |
| Sgsh |
T |
C |
11: 119,243,599 (GRCm39) |
N41S |
probably damaging |
Het |
| Sh2d1b1 |
A |
G |
1: 170,110,704 (GRCm39) |
T67A |
probably benign |
Het |
| Skint5 |
A |
T |
4: 113,480,980 (GRCm39) |
L958M |
unknown |
Het |
| Spg11 |
T |
A |
2: 121,923,426 (GRCm39) |
|
probably null |
Het |
| Spo11 |
T |
A |
2: 172,825,815 (GRCm39) |
D84E |
probably benign |
Het |
| Spta1 |
G |
A |
1: 174,001,956 (GRCm39) |
E29K |
probably benign |
Het |
| Srrm2 |
T |
C |
17: 24,040,286 (GRCm39) |
V2310A |
probably benign |
Het |
| Tbc1d30 |
C |
A |
10: 121,107,962 (GRCm39) |
R480L |
probably benign |
Het |
| Tbpl2 |
A |
T |
2: 23,985,079 (GRCm39) |
|
probably null |
Het |
| Tjp3 |
C |
T |
10: 81,118,828 (GRCm39) |
V69I |
possibly damaging |
Het |
| Ube3b |
T |
C |
5: 114,539,484 (GRCm39) |
V425A |
probably benign |
Het |
| Vmn1r151 |
A |
T |
7: 22,198,492 (GRCm39) |
S204R |
probably damaging |
Het |
| Vmn1r42 |
A |
T |
6: 89,822,059 (GRCm39) |
I170N |
probably damaging |
Het |
| Vmn1r65 |
A |
G |
7: 6,011,254 (GRCm39) |
S327P |
probably benign |
Het |
| Vmn2r104 |
T |
C |
17: 20,262,988 (GRCm39) |
I158V |
probably benign |
Het |
|
| Other mutations in Wdr49 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0266:Wdr49
|
UTSW |
3 |
75,359,103 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R0432:Wdr49
|
UTSW |
3 |
75,357,329 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R0599:Wdr49
|
UTSW |
3 |
75,357,197 (GRCm39) |
splice site |
probably null |
|
|
R0599:Wdr49
|
UTSW |
3 |
75,338,383 (GRCm39) |
splice site |
probably null |
|
|
R0948:Wdr49
|
UTSW |
3 |
75,358,158 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1341:Wdr49
|
UTSW |
3 |
75,336,640 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1526:Wdr49
|
UTSW |
3 |
75,304,227 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1593:Wdr49
|
UTSW |
3 |
75,304,248 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1603:Wdr49
|
UTSW |
3 |
75,304,177 (GRCm39) |
nonsense |
probably null |
|
|
R1874:Wdr49
|
UTSW |
3 |
75,336,654 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2986:Wdr49
|
UTSW |
3 |
75,289,347 (GRCm39) |
missense |
probably benign |
0.11 |
|
R3013:Wdr49
|
UTSW |
3 |
75,358,154 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R3025:Wdr49
|
UTSW |
3 |
75,240,663 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4027:Wdr49
|
UTSW |
3 |
75,230,972 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4029:Wdr49
|
UTSW |
3 |
75,230,972 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4030:Wdr49
|
UTSW |
3 |
75,230,972 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4031:Wdr49
|
UTSW |
3 |
75,230,972 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4578:Wdr49
|
UTSW |
3 |
75,242,550 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6024:Wdr49
|
UTSW |
3 |
75,209,133 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6141:Wdr49
|
UTSW |
3 |
75,230,989 (GRCm39) |
missense |
probably benign |
|
|
R6172:Wdr49
|
UTSW |
3 |
75,205,487 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6263:Wdr49
|
UTSW |
3 |
75,388,824 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R6501:Wdr49
|
UTSW |
3 |
75,246,765 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6584:Wdr49
|
UTSW |
3 |
75,245,065 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6698:Wdr49
|
UTSW |
3 |
75,336,673 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6891:Wdr49
|
UTSW |
3 |
75,240,590 (GRCm39) |
splice site |
probably null |
|
|
R7202:Wdr49
|
UTSW |
3 |
75,240,580 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7214:Wdr49
|
UTSW |
3 |
75,265,751 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R7572:Wdr49
|
UTSW |
3 |
75,265,744 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7575:Wdr49
|
UTSW |
3 |
75,358,193 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7673:Wdr49
|
UTSW |
3 |
75,358,214 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7790:Wdr49
|
UTSW |
3 |
75,182,335 (GRCm39) |
missense |
probably benign |
0.16 |
|
R8444:Wdr49
|
UTSW |
3 |
75,358,997 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9183:Wdr49
|
UTSW |
3 |
75,205,419 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9213:Wdr49
|
UTSW |
3 |
75,205,419 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9374:Wdr49
|
UTSW |
3 |
75,230,931 (GRCm39) |
missense |
probably benign |
|
|
R9492:Wdr49
|
UTSW |
3 |
75,240,669 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9552:Wdr49
|
UTSW |
3 |
75,230,931 (GRCm39) |
missense |
probably benign |
|
|
R9595:Wdr49
|
UTSW |
3 |
75,265,747 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9655:Wdr49
|
UTSW |
3 |
75,240,561 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9717:Wdr49
|
UTSW |
3 |
75,304,359 (GRCm39) |
missense |
probably benign |
0.17 |
|
Z1176:Wdr49
|
UTSW |
3 |
75,358,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Wdr49
|
UTSW |
3 |
75,357,210 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAGGCTGCTCAATTTGGTCTC -3'
(R):5'- AGACATGTCAGCACACACTG -3'
Sequencing Primer
(F):5'- TGGTCTCCCTGGCAATAAAG -3'
(R):5'- GCACACACTGAGCGTAAACTTTAC -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation