Incidental Mutation 'R8498:Wdr35'
| ID |
658387 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wdr35
|
| Ensembl Gene |
ENSMUSG00000066643 |
| Gene Name |
WD repeat domain 35 |
| Synonyms |
4930459M12Rik |
| MMRRC Submission |
067940-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8498 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
8973892-9028847 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 9008626 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 594
(N594K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106742
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085745]
[ENSMUST00000111113]
|
| AlphaFold |
Q8BND3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000085745
AA Change: N605K
PolyPhen 2
Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000082895
Gene: ENSMUSG00000066643
AA Change: N605K
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
5 |
42 |
8.25e0 |
SMART |
|
WD40
|
60 |
99 |
3.21e-1 |
SMART |
|
WD40
|
104 |
143 |
2.21e1 |
SMART |
|
WD40
|
147 |
184 |
1.06e2 |
SMART |
|
Blast:WD40
|
246 |
289 |
6e-18 |
BLAST |
|
Blast:WD40
|
292 |
330 |
2e-12 |
BLAST |
|
Blast:WD40
|
465 |
530 |
4e-15 |
BLAST |
|
Blast:WD40
|
533 |
571 |
1e-14 |
BLAST |
|
low complexity region
|
1069 |
1078 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111113
AA Change: N594K
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000106742
Gene: ENSMUSG00000066643
AA Change: N594K
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
5 |
42 |
8.25e0 |
SMART |
|
WD40
|
60 |
99 |
3.21e-1 |
SMART |
|
WD40
|
104 |
143 |
2.21e1 |
SMART |
|
WD40
|
147 |
184 |
1.06e2 |
SMART |
|
Blast:WD40
|
246 |
289 |
6e-18 |
BLAST |
|
Blast:WD40
|
292 |
330 |
2e-12 |
BLAST |
|
Blast:WD40
|
454 |
519 |
4e-15 |
BLAST |
|
Blast:WD40
|
522 |
560 |
2e-14 |
BLAST |
|
low complexity region
|
1058 |
1067 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.4863 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (43/43) |
| 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. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. Two patients with Sensenbrenner syndrome / cranioectodermal dysplasia (CED) were identified with mutations in this gene, consistent with a possible ciliary function.[provided by RefSeq, Sep 2010]
PHENOTYPE: Mice homozygous for an ENU induced mutation exhibit mid-gestation lethality, heart development defects, turning defects, polysyndactyly, hypoplastic lungs, tracheoesophageal fistula, herniated diaphragm and absent embryonic cilia. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110009E18Rik |
G |
T |
1: 120,169,142 (GRCm38) |
|
probably null |
Het |
| Amigo1 |
A |
G |
3: 108,188,435 (GRCm38) |
M417V |
probably benign |
Het |
| Celsr1 |
G |
T |
15: 85,939,105 (GRCm38) |
Q1701K |
probably benign |
Het |
| Cfhr2 |
G |
T |
1: 139,813,481 (GRCm38) |
T252K |
possibly damaging |
Het |
| Cntnap4 |
T |
A |
8: 112,875,579 (GRCm38) |
V1205E |
possibly damaging |
Het |
| Ctsb |
T |
C |
14: 63,133,432 (GRCm38) |
I31T |
probably benign |
Het |
| Cyp4f13 |
G |
C |
17: 32,924,859 (GRCm38) |
P497R |
probably damaging |
Het |
| Dna2 |
A |
G |
10: 62,973,315 (GRCm38) |
D1062G |
probably benign |
Het |
| Dnah7a |
A |
C |
1: 53,617,980 (GRCm38) |
M879R |
probably benign |
Het |
| Gcc1 |
C |
A |
6: 28,418,030 (GRCm38) |
S768I |
probably benign |
Het |
| Gm13128 |
A |
G |
4: 144,331,663 (GRCm38) |
D280G |
probably benign |
Het |
| Gm16486 |
T |
C |
8: 70,709,976 (GRCm38) |
I606T |
probably benign |
Het |
| Gm29106 |
T |
C |
1: 118,200,488 (GRCm38) |
Y637H |
probably damaging |
Het |
| Gm4787 |
T |
C |
12: 81,379,066 (GRCm38) |
D106G |
probably damaging |
Het |
| Gm527 |
T |
A |
12: 64,921,008 (GRCm38) |
V68D |
probably damaging |
Het |
| Grm1 |
A |
T |
10: 11,079,861 (GRCm38) |
Y226* |
probably null |
Het |
| Hkdc1 |
T |
C |
10: 62,385,883 (GRCm38) |
R799G |
probably benign |
Het |
| Ier2 |
T |
C |
8: 84,662,724 (GRCm38) |
I10V |
probably damaging |
Het |
| Ifi209 |
A |
G |
1: 173,642,503 (GRCm38) |
N219S |
probably benign |
Het |
| Krt88 |
A |
G |
15: 101,453,525 (GRCm38) |
S138G |
probably benign |
Het |
| Lrrc3 |
T |
C |
10: 77,900,990 (GRCm38) |
D204G |
probably damaging |
Het |
| Mllt6 |
T |
C |
11: 97,676,862 (GRCm38) |
I705T |
possibly damaging |
Het |
| Mpl |
G |
A |
4: 118,449,010 (GRCm38) |
P278S |
probably benign |
Het |
| Nkx3-2 |
T |
C |
5: 41,763,646 (GRCm38) |
E100G |
probably benign |
Het |
| Olfr1340 |
A |
T |
4: 118,726,625 (GRCm38) |
Y126F |
possibly damaging |
Het |
| Olfr504 |
A |
T |
7: 108,565,626 (GRCm38) |
C56* |
probably null |
Het |
| Olfr875 |
G |
A |
9: 37,773,264 (GRCm38) |
V202M |
probably damaging |
Het |
| Pcdh15 |
G |
A |
10: 74,482,142 (GRCm38) |
V992I |
probably damaging |
Het |
| Pcdhgc5 |
A |
G |
18: 37,820,434 (GRCm38) |
N254D |
probably damaging |
Het |
| Pdgfd |
A |
G |
9: 6,288,655 (GRCm38) |
E103G |
probably damaging |
Het |
| Ppp2r1b |
C |
T |
9: 50,866,894 (GRCm38) |
R304* |
probably null |
Het |
| Prdm2 |
G |
A |
4: 143,180,897 (GRCm38) |
A35V |
probably damaging |
Het |
| Psd |
T |
C |
19: 46,324,349 (GRCm38) |
N194S |
probably damaging |
Het |
| Rasgef1c |
A |
T |
11: 49,971,421 (GRCm38) |
E379V |
probably damaging |
Het |
| Rnf43 |
A |
T |
11: 87,727,441 (GRCm38) |
I186F |
probably damaging |
Het |
| Ros1 |
C |
T |
10: 52,178,951 (GRCm38) |
C85Y |
probably damaging |
Het |
| Setd2 |
T |
A |
9: 110,549,921 (GRCm38) |
L935I |
probably damaging |
Het |
| Slc2a5 |
A |
G |
4: 150,126,133 (GRCm38) |
Q46R |
probably benign |
Het |
| Ss18l1 |
A |
T |
2: 180,058,175 (GRCm38) |
Q276L |
probably damaging |
Het |
| Tas2r129 |
A |
T |
6: 132,951,852 (GRCm38) |
M251L |
probably benign |
Het |
| Thoc1 |
A |
G |
18: 9,989,693 (GRCm38) |
E458G |
probably benign |
Het |
| Zzef1 |
T |
A |
11: 72,853,322 (GRCm38) |
C835S |
probably damaging |
Het |
|
| Other mutations in Wdr35 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00236:Wdr35
|
APN |
12 |
9,019,900 (GRCm38) |
missense |
probably benign |
|
|
IGL00962:Wdr35
|
APN |
12 |
9,021,726 (GRCm38) |
splice site |
probably benign |
|
|
IGL01094:Wdr35
|
APN |
12 |
9,005,838 (GRCm38) |
splice site |
probably benign |
|
|
IGL01312:Wdr35
|
APN |
12 |
9,008,655 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01397:Wdr35
|
APN |
12 |
9,008,550 (GRCm38) |
missense |
probably benign |
0.04 |
|
IGL01490:Wdr35
|
APN |
12 |
8,977,381 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL02153:Wdr35
|
APN |
12 |
9,008,535 (GRCm38) |
missense |
probably null |
0.04 |
|
IGL02319:Wdr35
|
APN |
12 |
9,027,480 (GRCm38) |
unclassified |
probably benign |
|
|
IGL02548:Wdr35
|
APN |
12 |
9,024,297 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02941:Wdr35
|
APN |
12 |
9,027,507 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL03038:Wdr35
|
APN |
12 |
8,974,185 (GRCm38) |
splice site |
probably benign |
|
|
IGL03086:Wdr35
|
APN |
12 |
9,008,692 (GRCm38) |
splice site |
probably null |
|
|
IGL03207:Wdr35
|
APN |
12 |
8,989,936 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL03327:Wdr35
|
APN |
12 |
8,978,694 (GRCm38) |
splice site |
probably benign |
|
|
R0362:Wdr35
|
UTSW |
12 |
8,995,625 (GRCm38) |
unclassified |
probably benign |
|
|
R0464:Wdr35
|
UTSW |
12 |
9,027,472 (GRCm38) |
unclassified |
probably benign |
|
|
R0487:Wdr35
|
UTSW |
12 |
9,012,743 (GRCm38) |
critical splice donor site |
probably null |
|
|
R0976:Wdr35
|
UTSW |
12 |
8,986,104 (GRCm38) |
missense |
probably benign |
0.03 |
|
R1349:Wdr35
|
UTSW |
12 |
9,019,870 (GRCm38) |
splice site |
probably benign |
|
|
R1663:Wdr35
|
UTSW |
12 |
9,020,000 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1769:Wdr35
|
UTSW |
12 |
9,012,728 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1779:Wdr35
|
UTSW |
12 |
8,985,772 (GRCm38) |
missense |
possibly damaging |
0.62 |
|
R1789:Wdr35
|
UTSW |
12 |
8,977,435 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1893:Wdr35
|
UTSW |
12 |
8,985,994 (GRCm38) |
missense |
probably benign |
|
|
R2076:Wdr35
|
UTSW |
12 |
9,024,281 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R2228:Wdr35
|
UTSW |
12 |
8,974,955 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
R2280:Wdr35
|
UTSW |
12 |
8,978,628 (GRCm38) |
missense |
probably benign |
0.01 |
|
R2281:Wdr35
|
UTSW |
12 |
8,978,628 (GRCm38) |
missense |
probably benign |
0.01 |
|
R2863:Wdr35
|
UTSW |
12 |
9,028,060 (GRCm38) |
nonsense |
probably null |
|
|
R3713:Wdr35
|
UTSW |
12 |
9,027,648 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
R3911:Wdr35
|
UTSW |
12 |
8,986,077 (GRCm38) |
missense |
probably benign |
|
|
R3934:Wdr35
|
UTSW |
12 |
9,008,014 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4360:Wdr35
|
UTSW |
12 |
8,974,149 (GRCm38) |
utr 5 prime |
probably benign |
|
|
R4402:Wdr35
|
UTSW |
12 |
8,989,981 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4473:Wdr35
|
UTSW |
12 |
9,015,995 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4656:Wdr35
|
UTSW |
12 |
9,016,619 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4780:Wdr35
|
UTSW |
12 |
9,018,150 (GRCm38) |
missense |
probably benign |
|
|
R5092:Wdr35
|
UTSW |
12 |
8,987,327 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5160:Wdr35
|
UTSW |
12 |
9,008,487 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5184:Wdr35
|
UTSW |
12 |
9,018,142 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5346:Wdr35
|
UTSW |
12 |
8,978,684 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5435:Wdr35
|
UTSW |
12 |
8,989,951 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5472:Wdr35
|
UTSW |
12 |
9,016,619 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5682:Wdr35
|
UTSW |
12 |
8,981,125 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5801:Wdr35
|
UTSW |
12 |
9,006,723 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R5990:Wdr35
|
UTSW |
12 |
9,016,511 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6196:Wdr35
|
UTSW |
12 |
9,027,632 (GRCm38) |
missense |
probably benign |
0.05 |
|
R6531:Wdr35
|
UTSW |
12 |
8,978,685 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6746:Wdr35
|
UTSW |
12 |
9,003,982 (GRCm38) |
splice site |
probably null |
|
|
R6816:Wdr35
|
UTSW |
12 |
9,027,724 (GRCm38) |
critical splice donor site |
probably null |
|
|
R6863:Wdr35
|
UTSW |
12 |
8,990,047 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R7088:Wdr35
|
UTSW |
12 |
8,978,659 (GRCm38) |
missense |
probably benign |
0.11 |
|
R7140:Wdr35
|
UTSW |
12 |
9,022,785 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7327:Wdr35
|
UTSW |
12 |
8,987,312 (GRCm38) |
missense |
probably benign |
0.10 |
|
R7403:Wdr35
|
UTSW |
12 |
9,012,685 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7422:Wdr35
|
UTSW |
12 |
9,004,105 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7438:Wdr35
|
UTSW |
12 |
9,022,785 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7466:Wdr35
|
UTSW |
12 |
9,005,773 (GRCm38) |
missense |
probably benign |
|
|
R7491:Wdr35
|
UTSW |
12 |
8,986,000 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7599:Wdr35
|
UTSW |
12 |
9,024,886 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7620:Wdr35
|
UTSW |
12 |
9,016,042 (GRCm38) |
missense |
probably benign |
0.04 |
|
R7857:Wdr35
|
UTSW |
12 |
9,008,113 (GRCm38) |
critical splice donor site |
probably null |
|
|
R8289:Wdr35
|
UTSW |
12 |
9,008,020 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8302:Wdr35
|
UTSW |
12 |
9,028,110 (GRCm38) |
missense |
probably benign |
0.09 |
|
R8433:Wdr35
|
UTSW |
12 |
9,008,495 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8479:Wdr35
|
UTSW |
12 |
8,985,985 (GRCm38) |
missense |
probably benign |
0.04 |
|
R8721:Wdr35
|
UTSW |
12 |
9,025,044 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9220:Wdr35
|
UTSW |
12 |
8,986,000 (GRCm38) |
missense |
possibly damaging |
0.49 |
|
R9368:Wdr35
|
UTSW |
12 |
9,021,826 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9573:Wdr35
|
UTSW |
12 |
9,028,014 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9596:Wdr35
|
UTSW |
12 |
8,986,092 (GRCm38) |
missense |
probably benign |
0.08 |
|
R9773:Wdr35
|
UTSW |
12 |
8,989,990 (GRCm38) |
missense |
probably benign |
0.03 |
|
X0066:Wdr35
|
UTSW |
12 |
8,990,029 (GRCm38) |
missense |
probably benign |
0.04 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGGGCTGTAGGCAGTTTGAC -3'
(R):5'- TTCACAAATGTATGCAGCAATCCC -3'
Sequencing Primer
(F):5'- GGCAGTTTGACTTCAAGACCACTG -3'
(R):5'- GTATGCAGCAATCCCACTACATTTC -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation