Incidental Mutation 'R2243:Dnaaf2'
| ID |
240739 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dnaaf2
|
| Ensembl Gene |
ENSMUSG00000020973 |
| Gene Name |
dynein, axonemal assembly factor 2 |
| Synonyms |
1110034A24Rik, kintoun, 2810020C19Rik, Ktu |
| MMRRC Submission |
040243-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2243 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
69235861-69245203 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 69243418 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Proline
at position 548
(T548P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021356
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021356]
[ENSMUST00000222699]
|
| AlphaFold |
Q8BPI1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000021356
AA Change: T548P
PolyPhen 2
Score 0.835 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000021356
Gene: ENSMUSG00000020973
AA Change: T548P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
19 |
N/A |
INTRINSIC |
|
Pfam:PIH1
|
43 |
352 |
2e-99 |
PFAM |
|
low complexity region
|
360 |
373 |
N/A |
INTRINSIC |
|
SCOP:d1keka4
|
398 |
460 |
4e-3 |
SMART |
|
low complexity region
|
672 |
693 |
N/A |
INTRINSIC |
|
low complexity region
|
734 |
743 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181850
|
| SMART Domains |
Protein: ENSMUSP00000137753
Gene: ENSMUSG00000097061
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
32 |
N/A |
INTRINSIC |
|
low complexity region
|
46 |
59 |
N/A |
INTRINSIC |
|
low complexity region
|
74 |
87 |
N/A |
INTRINSIC |
|
low complexity region
|
113 |
132 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222699
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000223192
AA Change: T154P
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.5%
|
| Validation Efficiency |
100% (40/40) |
| MGI Phenotype |
FUNCTION: This gene encodes a highly conserved protein involved in the preassembly of dynein arm complexes which power cilia. These complexes are found in some cilia and are assembled in the cytoplasm prior to transport for cilia formation. Mutations in the human gene have been associated with primary ciliary dyskinesia. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit postnatal lethality, reduced body size, situs inversus totalis, hydroencephaly and abnormal brain ependymal and tracheal cilia morphology and motility. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm5 |
G |
A |
4: 144,503,991 (GRCm39) |
R387C |
probably benign |
Het |
| Agbl1 |
A |
T |
7: 76,068,470 (GRCm39) |
E93D |
possibly damaging |
Het |
| Akap10 |
C |
A |
11: 61,806,327 (GRCm39) |
V134F |
possibly damaging |
Het |
| Bnc1 |
T |
C |
7: 81,623,821 (GRCm39) |
I469V |
possibly damaging |
Het |
| Bod1l |
T |
A |
5: 41,978,888 (GRCm39) |
I809L |
possibly damaging |
Het |
| Dicer1 |
T |
A |
12: 104,696,447 (GRCm39) |
E118V |
probably damaging |
Het |
| Dmbt1 |
T |
C |
7: 130,648,292 (GRCm39) |
F274S |
probably benign |
Het |
| Dysf |
G |
A |
6: 84,163,491 (GRCm39) |
|
probably null |
Het |
| Fchsd2 |
A |
G |
7: 100,883,092 (GRCm39) |
N240S |
probably benign |
Het |
| Foxb1 |
T |
C |
9: 69,667,146 (GRCm39) |
Y128C |
probably damaging |
Het |
| Fxr2 |
A |
T |
11: 69,532,896 (GRCm39) |
K158M |
possibly damaging |
Het |
| Golga4 |
C |
A |
9: 118,385,972 (GRCm39) |
D1031E |
probably benign |
Het |
| Hbb-bs |
T |
C |
7: 103,477,018 (GRCm39) |
D22G |
possibly damaging |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Hnrnpul2 |
T |
A |
19: 8,798,001 (GRCm39) |
M119K |
probably benign |
Het |
| Kif18a |
C |
A |
2: 109,128,452 (GRCm39) |
H369Q |
probably damaging |
Het |
| Klhdc10 |
A |
G |
6: 30,449,558 (GRCm39) |
T207A |
probably damaging |
Het |
| Lig4 |
A |
G |
8: 10,022,161 (GRCm39) |
C540R |
possibly damaging |
Het |
| Lilrb4b |
A |
T |
10: 51,357,704 (GRCm39) |
N133Y |
possibly damaging |
Het |
| Lrrc31 |
T |
A |
3: 30,739,179 (GRCm39) |
|
probably benign |
Het |
| Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
| Myof |
C |
T |
19: 37,889,767 (GRCm39) |
R2009H |
probably damaging |
Het |
| Nlrp2 |
C |
T |
7: 5,338,597 (GRCm39) |
V99I |
probably benign |
Het |
| Or2w3b |
G |
A |
11: 58,623,271 (GRCm39) |
T240M |
probably damaging |
Het |
| Pcnx1 |
T |
C |
12: 81,965,479 (GRCm39) |
S549P |
probably damaging |
Het |
| Pkhd1l1 |
T |
C |
15: 44,410,323 (GRCm39) |
F2610S |
probably damaging |
Het |
| S100a14 |
A |
G |
3: 90,435,114 (GRCm39) |
T42A |
possibly damaging |
Het |
| Serpina6 |
T |
A |
12: 103,613,187 (GRCm39) |
Y371F |
probably benign |
Het |
| Slc43a3 |
T |
C |
2: 84,778,782 (GRCm39) |
|
probably benign |
Het |
| Taldo1 |
C |
A |
7: 140,972,217 (GRCm39) |
T28K |
probably damaging |
Het |
| Tatdn3 |
T |
C |
1: 190,785,097 (GRCm39) |
Y184C |
probably damaging |
Het |
| Tep1 |
G |
C |
14: 51,091,667 (GRCm39) |
R625G |
probably benign |
Het |
| Timm44 |
A |
T |
8: 4,317,871 (GRCm39) |
I179N |
possibly damaging |
Het |
| Uimc1 |
A |
T |
13: 55,198,552 (GRCm39) |
|
probably null |
Het |
| Vmn1r68 |
A |
T |
7: 10,262,089 (GRCm39) |
V3E |
probably damaging |
Het |
| Zer1 |
A |
T |
2: 29,991,139 (GRCm39) |
F683L |
probably damaging |
Het |
|
| Other mutations in Dnaaf2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00230:Dnaaf2
|
APN |
12 |
69,243,540 (GRCm39) |
missense |
probably benign |
0.23 |
|
IGL01321:Dnaaf2
|
APN |
12 |
69,243,376 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01880:Dnaaf2
|
APN |
12 |
69,236,811 (GRCm39) |
missense |
probably benign |
0.17 |
|
R0329:Dnaaf2
|
UTSW |
12 |
69,244,518 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0330:Dnaaf2
|
UTSW |
12 |
69,244,518 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1051:Dnaaf2
|
UTSW |
12 |
69,244,569 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1668:Dnaaf2
|
UTSW |
12 |
69,243,465 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2011:Dnaaf2
|
UTSW |
12 |
69,243,559 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2179:Dnaaf2
|
UTSW |
12 |
69,245,071 (GRCm39) |
unclassified |
probably benign |
|
|
R2356:Dnaaf2
|
UTSW |
12 |
69,244,992 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4120:Dnaaf2
|
UTSW |
12 |
69,244,812 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R5086:Dnaaf2
|
UTSW |
12 |
69,244,060 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5205:Dnaaf2
|
UTSW |
12 |
69,239,698 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5300:Dnaaf2
|
UTSW |
12 |
69,245,002 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5399:Dnaaf2
|
UTSW |
12 |
69,243,516 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5739:Dnaaf2
|
UTSW |
12 |
69,243,715 (GRCm39) |
missense |
probably benign |
|
|
R5765:Dnaaf2
|
UTSW |
12 |
69,239,627 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5872:Dnaaf2
|
UTSW |
12 |
69,244,122 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6043:Dnaaf2
|
UTSW |
12 |
69,244,122 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6338:Dnaaf2
|
UTSW |
12 |
69,244,896 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6503:Dnaaf2
|
UTSW |
12 |
69,244,285 (GRCm39) |
missense |
probably benign |
0.42 |
|
R6524:Dnaaf2
|
UTSW |
12 |
69,237,159 (GRCm39) |
missense |
probably benign |
0.43 |
|
R6895:Dnaaf2
|
UTSW |
12 |
69,244,437 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7490:Dnaaf2
|
UTSW |
12 |
69,244,380 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7971:Dnaaf2
|
UTSW |
12 |
69,244,119 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8209:Dnaaf2
|
UTSW |
12 |
69,244,866 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8790:Dnaaf2
|
UTSW |
12 |
69,244,068 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9210:Dnaaf2
|
UTSW |
12 |
69,244,602 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9548:Dnaaf2
|
UTSW |
12 |
69,244,776 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Dnaaf2
|
UTSW |
12 |
69,244,624 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTCAAATAGTGAGAACGGTTACCTCC -3'
(R):5'- TGTCCAGACGAATGAGGAGC -3'
Sequencing Primer
(F):5'- TAGTGAGAACGGTTACCTCCAAAGAC -3'
(R):5'- GCTCAGCCATGGGTGAC -3'
|
| Posted On |
2014-10-15 |
Incidental Mutation