Incidental Mutation 'R5282:Daw1'
| ID |
402800 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Daw1
|
| Ensembl Gene |
ENSMUSG00000053161 |
| Gene Name |
dynein assembly factor with WDR repeat domains 1 |
| Synonyms |
b2b1584Clo, Wdr69, b2b1116Clo, 4933429D11Rik, 4930563E19Rik |
| MMRRC Submission |
042867-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.090)
|
| Stock # |
R5282 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
83137473-83188295 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 83170419 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 244
(V244L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000067583
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065403]
[ENSMUST00000065436]
[ENSMUST00000113436]
[ENSMUST00000149342]
|
| AlphaFold |
D3Z7A5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000065403
AA Change: V244L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000067583
Gene: ENSMUSG00000053161
AA Change: V244L
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
81 |
120 |
1.17e-5 |
SMART |
|
WD40
|
123 |
163 |
1.14e-8 |
SMART |
|
WD40
|
166 |
205 |
1.95e-11 |
SMART |
|
WD40
|
208 |
247 |
3.47e-8 |
SMART |
|
WD40
|
250 |
289 |
2.98e-7 |
SMART |
|
WD40
|
292 |
331 |
1.51e-8 |
SMART |
|
WD40
|
334 |
373 |
4.87e-12 |
SMART |
|
WD40
|
376 |
415 |
5.14e-11 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000065436
|
| SMART Domains |
Protein: ENSMUSP00000067102
Gene: ENSMUSG00000053161
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
81 |
120 |
1.17e-5 |
SMART |
|
WD40
|
145 |
184 |
3.37e-6 |
SMART |
|
WD40
|
187 |
226 |
1.51e-8 |
SMART |
|
WD40
|
229 |
268 |
4.87e-12 |
SMART |
|
WD40
|
271 |
310 |
5.14e-11 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113436
|
| SMART Domains |
Protein: ENSMUSP00000109063
Gene: ENSMUSG00000053161
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
81 |
120 |
1.17e-5 |
SMART |
|
WD40
|
145 |
184 |
3.37e-6 |
SMART |
|
WD40
|
187 |
226 |
1.51e-8 |
SMART |
|
WD40
|
229 |
268 |
4.87e-12 |
SMART |
|
WD40
|
271 |
317 |
7.99e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149342
|
| SMART Domains |
Protein: ENSMUSP00000117796
Gene: ENSMUSG00000053161
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
36 |
48 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 96.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for an induced mutation exhibit dextrocardia associated with situs inversus totalis, overriding aorta, ventricular septal defects, and dual inferior vena cava as well as dextrogastria, hypoplastic spleen, inverted liver, lung lobation/isomerism and dyskinetic/immotile airway cilia [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700102P08Rik |
T |
A |
9: 108,270,439 (GRCm39) |
M1K |
probably null |
Het |
| 2810021J22Rik |
T |
C |
11: 58,771,166 (GRCm39) |
L216S |
possibly damaging |
Het |
| 4933405O20Rik |
G |
A |
7: 50,249,220 (GRCm39) |
E85K |
possibly damaging |
Het |
| Agrn |
A |
G |
4: 156,257,492 (GRCm39) |
F1153L |
probably damaging |
Het |
| Cbx8 |
A |
G |
11: 118,929,742 (GRCm39) |
S284P |
probably damaging |
Het |
| Cep128 |
A |
G |
12: 91,305,893 (GRCm39) |
L170P |
probably damaging |
Het |
| Cyp4f14 |
T |
A |
17: 33,126,959 (GRCm39) |
T324S |
probably damaging |
Het |
| Eef2kmt |
A |
G |
16: 5,063,222 (GRCm39) |
V306A |
probably benign |
Het |
| Enah |
A |
T |
1: 181,763,293 (GRCm39) |
|
probably null |
Het |
| Fam171b |
T |
C |
2: 83,683,949 (GRCm39) |
|
probably null |
Het |
| Fsip2 |
C |
T |
2: 82,808,925 (GRCm39) |
T1748I |
possibly damaging |
Het |
| Gabrg2 |
C |
T |
11: 41,862,559 (GRCm39) |
G175D |
probably damaging |
Het |
| Gtf2h3 |
C |
T |
5: 124,722,360 (GRCm39) |
T121I |
probably benign |
Het |
| Hmcn1 |
G |
T |
1: 150,458,047 (GRCm39) |
N33K |
probably damaging |
Het |
| Incenp |
T |
A |
19: 9,855,770 (GRCm39) |
E514V |
unknown |
Het |
| Kank3 |
T |
C |
17: 34,036,917 (GRCm39) |
S74P |
probably benign |
Het |
| Lrriq1 |
G |
T |
10: 103,051,206 (GRCm39) |
N515K |
probably benign |
Het |
| Mfsd13b |
G |
A |
7: 120,591,056 (GRCm39) |
D266N |
probably damaging |
Het |
| Neto1 |
T |
C |
18: 86,422,998 (GRCm39) |
Y152H |
probably damaging |
Het |
| Nub1 |
C |
A |
5: 24,900,533 (GRCm39) |
F145L |
probably benign |
Het |
| Nufip1 |
T |
C |
14: 76,351,715 (GRCm39) |
|
probably null |
Het |
| Pard6g |
T |
A |
18: 80,123,116 (GRCm39) |
V50E |
probably benign |
Het |
| Polr3a |
T |
C |
14: 24,505,009 (GRCm39) |
I1084V |
possibly damaging |
Het |
| Rapgef5 |
A |
C |
12: 117,703,379 (GRCm39) |
N431T |
probably damaging |
Het |
| Rassf9 |
A |
T |
10: 102,381,205 (GRCm39) |
T196S |
probably damaging |
Het |
| Rrp12 |
T |
C |
19: 41,865,029 (GRCm39) |
Y764C |
probably benign |
Het |
| Slfn8 |
T |
C |
11: 82,908,550 (GRCm39) |
|
probably null |
Het |
| Smox |
T |
A |
2: 131,363,026 (GRCm39) |
V265D |
probably damaging |
Het |
| Sult1b1 |
T |
C |
5: 87,678,510 (GRCm39) |
I105V |
probably benign |
Het |
| Sycp2 |
T |
C |
2: 178,045,554 (GRCm39) |
D22G |
probably damaging |
Het |
| Tbck |
G |
A |
3: 132,456,977 (GRCm39) |
M630I |
possibly damaging |
Het |
| Tenm4 |
G |
C |
7: 96,486,538 (GRCm39) |
G965R |
possibly damaging |
Het |
| Trappc10 |
G |
A |
10: 78,023,694 (GRCm39) |
T1258I |
probably damaging |
Het |
| Tssk1 |
G |
A |
16: 17,713,123 (GRCm39) |
G303S |
probably benign |
Het |
| Tstd2 |
T |
C |
4: 46,120,461 (GRCm39) |
Y313C |
probably damaging |
Het |
| Usp42 |
G |
A |
5: 143,707,401 (GRCm39) |
T260M |
probably damaging |
Het |
| Wdr43 |
T |
A |
17: 71,955,772 (GRCm39) |
V479E |
probably damaging |
Het |
| Xpo7 |
G |
A |
14: 70,921,171 (GRCm39) |
T599I |
probably damaging |
Het |
| Zfp553 |
A |
G |
7: 126,836,013 (GRCm39) |
K523E |
probably benign |
Het |
|
| Other mutations in Daw1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00496:Daw1
|
APN |
1 |
83,174,957 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00717:Daw1
|
APN |
1 |
83,175,900 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01320:Daw1
|
APN |
1 |
83,175,901 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL01869:Daw1
|
APN |
1 |
83,159,965 (GRCm39) |
splice site |
probably benign |
|
|
IGL02404:Daw1
|
APN |
1 |
83,174,952 (GRCm39) |
missense |
probably benign |
0.15 |
|
IGL02516:Daw1
|
APN |
1 |
83,186,949 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02608:Daw1
|
APN |
1 |
83,187,055 (GRCm39) |
nonsense |
probably null |
|
|
IGL02992:Daw1
|
APN |
1 |
83,174,934 (GRCm39) |
splice site |
probably benign |
|
|
IGL03015:Daw1
|
APN |
1 |
83,161,103 (GRCm39) |
splice site |
probably benign |
|
|
IGL03099:Daw1
|
APN |
1 |
83,157,088 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0050:Daw1
|
UTSW |
1 |
83,158,086 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0631:Daw1
|
UTSW |
1 |
83,174,981 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0711:Daw1
|
UTSW |
1 |
83,169,059 (GRCm39) |
splice site |
probably benign |
|
|
R1420:Daw1
|
UTSW |
1 |
83,137,548 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R1678:Daw1
|
UTSW |
1 |
83,161,087 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1943:Daw1
|
UTSW |
1 |
83,186,987 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R2006:Daw1
|
UTSW |
1 |
83,169,066 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2191:Daw1
|
UTSW |
1 |
83,170,384 (GRCm39) |
missense |
probably benign |
0.34 |
|
R4983:Daw1
|
UTSW |
1 |
83,165,719 (GRCm39) |
missense |
probably benign |
0.38 |
|
R5129:Daw1
|
UTSW |
1 |
83,183,624 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6128:Daw1
|
UTSW |
1 |
83,183,647 (GRCm39) |
nonsense |
probably null |
|
|
R7438:Daw1
|
UTSW |
1 |
83,170,436 (GRCm39) |
missense |
probably benign |
|
|
R8888:Daw1
|
UTSW |
1 |
83,187,011 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8895:Daw1
|
UTSW |
1 |
83,187,011 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8900:Daw1
|
UTSW |
1 |
83,175,898 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8901:Daw1
|
UTSW |
1 |
83,183,643 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
Z1088:Daw1
|
UTSW |
1 |
83,183,685 (GRCm39) |
missense |
probably null |
1.00 |
|
Z1176:Daw1
|
UTSW |
1 |
83,186,976 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Daw1
|
UTSW |
1 |
83,161,021 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Daw1
|
UTSW |
1 |
83,158,112 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Daw1
|
UTSW |
1 |
83,187,935 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCTTGCAGAGAAAGTGGTGC -3'
(R):5'- TGCTGCCTTGTATTGGGAAATC -3'
Sequencing Primer
(F):5'- CGAGCCGGATTTCCTGTTGC -3'
(R):5'- CCAGACAAATTGTGGTGCTC -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation