Incidental Mutation 'R8901:Daw1'
ID |
679942 |
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 |
068758-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.090)
|
Stock # |
R8901 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
83137473-83188295 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 83183643 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Threonine
at position 231
(K231T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000109063
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065403]
[ENSMUST00000065436]
[ENSMUST00000113436]
[ENSMUST00000149342]
|
AlphaFold |
D3Z7A5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000065403
AA Change: K336T
PolyPhen 2
Score 0.108 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000067583 Gene: ENSMUSG00000053161 AA Change: K336T
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
AA Change: K231T
PolyPhen 2
Score 0.099 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000067102 Gene: ENSMUSG00000053161 AA Change: K231T
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 |
possibly damaging
Transcript: ENSMUST00000113436
AA Change: K231T
PolyPhen 2
Score 0.704 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000109063 Gene: ENSMUSG00000053161 AA Change: K231T
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 |
0.0892 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.8%
|
Validation Efficiency |
100% (53/53) |
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adprm |
T |
C |
11: 66,932,564 (GRCm39) |
N115S |
probably damaging |
Het |
Agbl5 |
T |
C |
5: 31,048,435 (GRCm39) |
V169A |
possibly damaging |
Het |
Ajuba |
T |
C |
14: 54,807,830 (GRCm39) |
|
probably benign |
Het |
Ankrd27 |
G |
A |
7: 35,332,243 (GRCm39) |
|
probably benign |
Het |
Brat1 |
T |
A |
5: 140,698,608 (GRCm39) |
M260K |
probably benign |
Het |
Btbd6 |
G |
T |
12: 112,940,220 (GRCm39) |
|
probably benign |
Het |
Cenpf |
C |
T |
1: 189,394,248 (GRCm39) |
G503S |
probably benign |
Het |
Ces1e |
C |
T |
8: 93,937,103 (GRCm39) |
D323N |
probably damaging |
Het |
Chrna5 |
T |
C |
9: 54,911,737 (GRCm39) |
F75S |
probably damaging |
Het |
Clmn |
A |
T |
12: 104,747,211 (GRCm39) |
S779T |
probably benign |
Het |
Cntnap5c |
T |
A |
17: 58,637,156 (GRCm39) |
M1011K |
probably benign |
Het |
Col11a2 |
A |
T |
17: 34,262,254 (GRCm39) |
I164F |
probably damaging |
Het |
Dnah5 |
T |
G |
15: 28,365,715 (GRCm39) |
M2637R |
possibly damaging |
Het |
Dsp |
G |
A |
13: 38,365,155 (GRCm39) |
V513M |
probably damaging |
Het |
Eea1 |
T |
G |
10: 95,825,431 (GRCm39) |
I42R |
probably damaging |
Het |
Ehd4 |
A |
T |
2: 119,932,805 (GRCm39) |
I207N |
probably damaging |
Het |
F11 |
T |
C |
8: 45,701,851 (GRCm39) |
T320A |
probably benign |
Het |
Fhdc1 |
T |
A |
3: 84,352,874 (GRCm39) |
M784L |
probably benign |
Het |
Gm21411 |
G |
A |
4: 146,982,171 (GRCm39) |
Q10* |
probably null |
Het |
Gnao1 |
T |
C |
8: 94,694,687 (GRCm39) |
M70T |
probably benign |
Het |
Gtf2i |
A |
G |
5: 134,324,389 (GRCm39) |
F25S |
probably damaging |
Het |
H2-T3 |
A |
T |
17: 36,498,252 (GRCm39) |
D220E |
probably damaging |
Het |
Hnrnpul2 |
T |
G |
19: 8,801,809 (GRCm39) |
L339R |
probably damaging |
Het |
Impg2 |
A |
T |
16: 56,072,528 (GRCm39) |
D320V |
probably damaging |
Het |
Itga2b |
A |
T |
11: 102,351,630 (GRCm39) |
L565Q |
probably damaging |
Het |
Jph3 |
A |
T |
8: 122,457,561 (GRCm39) |
Q67L |
probably damaging |
Het |
Khnyn |
T |
C |
14: 56,124,043 (GRCm39) |
F99S |
probably damaging |
Het |
Lhcgr |
A |
T |
17: 89,063,030 (GRCm39) |
L214Q |
probably damaging |
Het |
Lix1l |
C |
A |
3: 96,508,745 (GRCm39) |
|
probably benign |
Het |
Mettl13 |
C |
T |
1: 162,373,814 (GRCm39) |
V95I |
possibly damaging |
Het |
Nod2 |
C |
T |
8: 89,390,437 (GRCm39) |
T226M |
probably damaging |
Het |
Nwd2 |
T |
C |
5: 63,963,685 (GRCm39) |
W1090R |
probably damaging |
Het |
Or2y1c |
A |
T |
11: 49,361,035 (GRCm39) |
D19V |
probably damaging |
Het |
Pla2r1 |
C |
A |
2: 60,332,400 (GRCm39) |
V481F |
|
Het |
Polr1b |
T |
A |
2: 128,967,595 (GRCm39) |
V996E |
probably damaging |
Het |
Ppfia3 |
T |
A |
7: 44,991,141 (GRCm39) |
R1027W |
probably damaging |
Het |
Pramel21 |
A |
T |
4: 143,343,677 (GRCm39) |
I326F |
probably benign |
Het |
Rap1gds1 |
T |
C |
3: 138,663,305 (GRCm39) |
D298G |
probably damaging |
Het |
Rlf |
T |
C |
4: 121,004,010 (GRCm39) |
T1767A |
possibly damaging |
Het |
Scn3a |
C |
T |
2: 65,352,252 (GRCm39) |
V353M |
probably benign |
Het |
Setd1b |
T |
C |
5: 123,299,114 (GRCm39) |
|
probably benign |
Het |
Slc25a42 |
A |
G |
8: 70,646,799 (GRCm39) |
V19A |
probably benign |
Het |
Smarcal1 |
T |
C |
1: 72,624,939 (GRCm39) |
S29P |
possibly damaging |
Het |
Sntb2 |
T |
C |
8: 107,737,975 (GRCm39) |
F508L |
possibly damaging |
Het |
Speer4a3 |
CTTT |
C |
5: 26,155,857 (GRCm39) |
|
probably benign |
Het |
Syt15 |
G |
T |
14: 33,948,028 (GRCm39) |
R291L |
probably damaging |
Het |
Tas2r114 |
T |
A |
6: 131,666,914 (GRCm39) |
N38I |
probably damaging |
Het |
Tg |
T |
A |
15: 66,557,184 (GRCm39) |
N948K |
probably damaging |
Het |
Tmem115 |
A |
G |
9: 107,411,993 (GRCm39) |
|
probably benign |
Het |
Ttll8 |
C |
T |
15: 88,818,146 (GRCm39) |
D175N |
probably benign |
Het |
Txk |
T |
A |
5: 72,858,050 (GRCm39) |
Y398F |
probably damaging |
Het |
Wdr36 |
C |
A |
18: 32,980,013 (GRCm39) |
T246K |
probably damaging |
Het |
Wdr43 |
A |
T |
17: 71,932,461 (GRCm39) |
R113S |
probably benign |
Het |
Ybx1 |
T |
C |
4: 119,138,785 (GRCm39) |
Y239C |
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 |
R5129:Daw1
|
UTSW |
1 |
83,183,624 (GRCm39) |
missense |
probably damaging |
0.99 |
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 |
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'- AGAGACAGATAGCAAGTCATGTCC -3'
(R):5'- AAACATTACTTCATTGCCTGACCC -3'
Sequencing Primer
(F):5'- GATAGCAAGTCATGTCCAGCCTC -3'
(R):5'- GCCTGACCCATATTAATATGTTGG -3'
|
Posted On |
2021-08-31 |