Incidental Mutation 'R5129:Daw1'
| ID |
394890 |
| 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 |
042717-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.090)
|
| Stock # |
R5129 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
83137473-83188295 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 83183624 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 225
(Y225H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109063
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065403]
[ENSMUST00000065436]
[ENSMUST00000113436]
[ENSMUST00000149342]
|
| AlphaFold |
D3Z7A5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000065403
AA Change: Y330H
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000067583
Gene: ENSMUSG00000053161
AA Change: Y330H
| 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 |
possibly damaging
Transcript: ENSMUST00000065436
AA Change: Y225H
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000067102
Gene: ENSMUSG00000053161
AA Change: Y225H
| 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 damaging
Transcript: ENSMUST00000113436
AA Change: Y225H
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000109063
Gene: ENSMUSG00000053161
AA Change: Y225H
| 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 |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.8%
|
| Validation Efficiency |
98% (51/52) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930432E11Rik |
A |
G |
7: 29,260,786 (GRCm39) |
|
noncoding transcript |
Het |
| Abcf1 |
C |
T |
17: 36,271,687 (GRCm39) |
|
probably benign |
Het |
| Adamts14 |
T |
A |
10: 61,085,397 (GRCm39) |
D209V |
probably benign |
Het |
| Aldh3b1 |
A |
G |
19: 3,965,336 (GRCm39) |
F392L |
probably benign |
Het |
| Atp1a2 |
A |
T |
1: 172,103,522 (GRCm39) |
D999E |
probably benign |
Het |
| Capn7 |
T |
C |
14: 31,066,468 (GRCm39) |
V94A |
probably damaging |
Het |
| Cdh13 |
A |
G |
8: 119,821,954 (GRCm39) |
D271G |
probably damaging |
Het |
| Cntnap5b |
G |
A |
1: 100,306,815 (GRCm39) |
G844D |
probably damaging |
Het |
| Col6a4 |
T |
C |
9: 105,890,576 (GRCm39) |
E1906G |
probably damaging |
Het |
| Dvl3 |
T |
A |
16: 20,336,090 (GRCm39) |
M49K |
possibly damaging |
Het |
| Eef1b2 |
T |
G |
1: 63,218,739 (GRCm39) |
S175A |
probably damaging |
Het |
| Epb41l1 |
A |
T |
2: 156,351,201 (GRCm39) |
Y425F |
possibly damaging |
Het |
| Fam43b |
A |
T |
4: 138,122,783 (GRCm39) |
L179* |
probably null |
Het |
| Fbxw28 |
A |
G |
9: 109,155,671 (GRCm39) |
L314P |
probably damaging |
Het |
| Fstl4 |
C |
A |
11: 53,077,266 (GRCm39) |
D674E |
probably damaging |
Het |
| G3bp1 |
T |
C |
11: 55,379,942 (GRCm39) |
V92A |
possibly damaging |
Het |
| Gm3604 |
A |
T |
13: 62,517,588 (GRCm39) |
Y257N |
probably benign |
Het |
| Gm5900 |
A |
G |
7: 104,599,223 (GRCm39) |
|
noncoding transcript |
Het |
| Hectd4 |
G |
A |
5: 121,481,573 (GRCm39) |
V3041M |
possibly damaging |
Het |
| Hivep2 |
A |
G |
10: 14,006,608 (GRCm39) |
K1069E |
probably damaging |
Het |
| Hlf |
T |
C |
11: 90,281,078 (GRCm39) |
D38G |
probably benign |
Het |
| Hsd3b7 |
C |
A |
7: 127,400,306 (GRCm39) |
C18* |
probably null |
Het |
| Kdm5a |
T |
C |
6: 120,381,983 (GRCm39) |
C676R |
probably damaging |
Het |
| Klhdc7b |
A |
G |
15: 89,272,751 (GRCm39) |
Y1211C |
probably damaging |
Het |
| Krt78 |
C |
A |
15: 101,856,015 (GRCm39) |
V599L |
possibly damaging |
Het |
| Mroh9 |
C |
G |
1: 162,888,329 (GRCm39) |
G249R |
probably damaging |
Het |
| Nbas |
T |
C |
12: 13,440,961 (GRCm39) |
L1097P |
probably damaging |
Het |
| Nf2 |
A |
C |
11: 4,766,145 (GRCm39) |
D87E |
probably benign |
Het |
| Or10d4c |
T |
A |
9: 39,558,790 (GRCm39) |
I256N |
probably benign |
Het |
| Or14j2 |
T |
C |
17: 37,886,071 (GRCm39) |
Y81C |
probably damaging |
Het |
| Ppil3 |
A |
G |
1: 58,479,992 (GRCm39) |
|
probably benign |
Het |
| Prrc2a |
T |
C |
17: 35,379,154 (GRCm39) |
E276G |
unknown |
Het |
| Semp2l1 |
C |
A |
1: 32,584,560 (GRCm39) |
R450M |
probably damaging |
Het |
| Semp2l1 |
T |
A |
1: 32,584,561 (GRCm39) |
R450W |
probably damaging |
Het |
| Spata16 |
A |
G |
3: 26,721,713 (GRCm39) |
E78G |
probably damaging |
Het |
| Tlr3 |
A |
T |
8: 45,856,018 (GRCm39) |
I54K |
probably damaging |
Het |
| Tmem72 |
A |
G |
6: 116,678,974 (GRCm39) |
L34P |
probably damaging |
Het |
| Triobp |
A |
G |
15: 78,845,296 (GRCm39) |
R213G |
probably benign |
Het |
| Tyrp1 |
T |
A |
4: 80,764,844 (GRCm39) |
V7D |
probably damaging |
Het |
| Uhrf2 |
A |
G |
19: 30,052,621 (GRCm39) |
I372V |
probably benign |
Het |
| Uty |
T |
C |
Y: 1,158,592 (GRCm39) |
T484A |
probably benign |
Het |
| Vcan |
T |
C |
13: 89,838,359 (GRCm39) |
D2395G |
probably damaging |
Het |
| Vmn1r225 |
T |
A |
17: 20,723,378 (GRCm39) |
I273N |
probably damaging |
Het |
| Zfp451 |
C |
T |
1: 33,842,014 (GRCm39) |
|
probably benign |
Het |
| Zfp457 |
T |
C |
13: 67,441,420 (GRCm39) |
E385G |
probably benign |
Het |
| Zfp74 |
C |
T |
7: 29,631,880 (GRCm39) |
M121I |
probably benign |
Het |
| Zfp866 |
A |
T |
8: 70,220,359 (GRCm39) |
|
probably null |
Het |
| Zfp874a |
A |
T |
13: 67,591,100 (GRCm39) |
C195S |
probably damaging |
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 |
|
R5282:Daw1
|
UTSW |
1 |
83,170,419 (GRCm39) |
missense |
probably benign |
|
|
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'- AGATAGCAAGTCATGTCCAGC -3'
(R):5'- CTGTCAGAAACATTACTTCATTGCC -3'
Sequencing Primer
(F):5'- ATAGCAAGTCATGTCCAGCCTCTTC -3'
(R):5'- GCCTGACCCATATTAATATGTTGG -3'
|
| Posted On |
2016-06-21 |
Incidental Mutation