Incidental Mutation 'R0467:Dnaaf1'
| ID |
41696 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dnaaf1
|
| Ensembl Gene |
ENSMUSG00000031831 |
| Gene Name |
dynein, axonemal assembly factor 1 |
| Synonyms |
Lrrc50, m4Bei, 4930457P18Rik |
| MMRRC Submission |
038667-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.798)
|
| Stock # |
R0467 (G1)
|
| Quality Score |
147 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
120301974-120325193 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 120317471 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 333
(D333E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000090790
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093100]
|
| AlphaFold |
Q9D2H9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000093100
AA Change: D333E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000090790
Gene: ENSMUSG00000031831
AA Change: D333E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:LRR_9
|
115 |
298 |
5.7e-10 |
PFAM |
|
low complexity region
|
322 |
332 |
N/A |
INTRINSIC |
|
low complexity region
|
482 |
501 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.8%
- 10x: 96.7%
- 20x: 93.3%
|
| Validation Efficiency |
98% (52/53) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is cilium-specific and is required for the stability of the ciliary architecture. It is involved in the regulation of microtubule-based cilia and actin-based brush border microvilli. Mutations in this gene are associated with primary ciliary dyskinesia-13. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
PHENOTYPE: Mice homozygous for an ENU-induced mutation exhibit partial postnatal lethality, domed cranium, enlarged lateral ventricles, abnormal hippocampus morphology, and thin cerebral cortex. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
A |
G |
17: 24,532,151 (GRCm39) |
|
probably benign |
Het |
| Anapc1 |
A |
G |
2: 128,510,963 (GRCm39) |
I511T |
probably damaging |
Het |
| Atf6 |
A |
T |
1: 170,621,589 (GRCm39) |
H477Q |
probably damaging |
Het |
| C4b |
A |
G |
17: 34,955,101 (GRCm39) |
V795A |
probably benign |
Het |
| Cdh26 |
C |
T |
2: 178,123,425 (GRCm39) |
R675C |
possibly damaging |
Het |
| Cdk12 |
T |
C |
11: 98,094,405 (GRCm39) |
V71A |
probably damaging |
Het |
| Cul3 |
A |
T |
1: 80,258,580 (GRCm39) |
D419E |
probably benign |
Het |
| Ddi2 |
A |
G |
4: 141,412,495 (GRCm39) |
I139T |
probably benign |
Het |
| Dnase1 |
A |
G |
16: 3,857,013 (GRCm39) |
D7G |
probably damaging |
Het |
| G3bp1 |
T |
C |
11: 55,389,452 (GRCm39) |
F383L |
probably damaging |
Het |
| Galc |
A |
C |
12: 98,208,904 (GRCm39) |
I250R |
probably damaging |
Het |
| Garin1b |
G |
A |
6: 29,326,606 (GRCm39) |
S241N |
probably damaging |
Het |
| Gcfc2 |
T |
C |
6: 81,900,863 (GRCm39) |
V59A |
possibly damaging |
Het |
| Gm6133 |
A |
C |
18: 78,393,305 (GRCm39) |
S100R |
probably benign |
Het |
| Iba57 |
T |
C |
11: 59,054,265 (GRCm39) |
T85A |
probably benign |
Het |
| Ipo4 |
A |
T |
14: 55,872,983 (GRCm39) |
M1K |
probably null |
Het |
| Ippk |
A |
G |
13: 49,584,341 (GRCm39) |
|
probably null |
Het |
| Kcnk10 |
A |
T |
12: 98,456,204 (GRCm39) |
I209N |
probably benign |
Het |
| Klk14 |
T |
C |
7: 43,343,534 (GRCm39) |
L122P |
probably benign |
Het |
| Ltbp1 |
T |
A |
17: 75,589,424 (GRCm39) |
|
probably null |
Het |
| Mab21l4 |
A |
T |
1: 93,080,766 (GRCm39) |
I380N |
probably damaging |
Het |
| Mcm3 |
T |
C |
1: 20,875,071 (GRCm39) |
D737G |
probably benign |
Het |
| Naip2 |
A |
C |
13: 100,298,290 (GRCm39) |
I582S |
probably benign |
Het |
| Nalcn |
T |
A |
14: 123,528,459 (GRCm39) |
T1456S |
probably benign |
Het |
| Nckap1l |
C |
T |
15: 103,405,854 (GRCm39) |
P1097S |
probably benign |
Het |
| Ncoa1 |
A |
G |
12: 4,317,687 (GRCm39) |
M1215T |
possibly damaging |
Het |
| Nomo1 |
T |
A |
7: 45,721,911 (GRCm39) |
|
probably null |
Het |
| Obox5 |
T |
A |
7: 15,491,932 (GRCm39) |
C116S |
possibly damaging |
Het |
| Or2ag2b |
T |
A |
7: 106,417,568 (GRCm39) |
S93T |
possibly damaging |
Het |
| Or51a43 |
C |
T |
7: 103,717,332 (GRCm39) |
R302H |
probably benign |
Het |
| Or5a1 |
C |
A |
19: 12,097,900 (GRCm39) |
A59S |
probably benign |
Het |
| Pcdhb14 |
G |
T |
18: 37,582,277 (GRCm39) |
R461L |
probably damaging |
Het |
| Pdgfra |
A |
G |
5: 75,355,697 (GRCm39) |
D1069G |
probably damaging |
Het |
| Pgr |
C |
T |
9: 8,900,779 (GRCm39) |
A104V |
possibly damaging |
Het |
| Pkd1l3 |
C |
G |
8: 110,350,281 (GRCm39) |
D375E |
possibly damaging |
Het |
| Potegl |
A |
G |
2: 23,102,832 (GRCm39) |
E190G |
possibly damaging |
Het |
| Rassf3 |
A |
G |
10: 121,253,109 (GRCm39) |
|
probably benign |
Het |
| Rgs22 |
G |
T |
15: 36,099,941 (GRCm39) |
S258* |
probably null |
Het |
| Rsph6a |
C |
A |
7: 18,791,594 (GRCm39) |
D254E |
possibly damaging |
Het |
| Sgk1 |
A |
G |
10: 21,872,257 (GRCm39) |
|
probably benign |
Het |
| Shcbp1l |
G |
A |
1: 153,308,928 (GRCm39) |
C174Y |
probably damaging |
Het |
| Spata31g1 |
T |
C |
4: 42,972,715 (GRCm39) |
S683P |
probably benign |
Het |
| Sulf1 |
T |
A |
1: 12,867,144 (GRCm39) |
N109K |
probably damaging |
Het |
| Taf7l2 |
G |
A |
10: 115,949,058 (GRCm39) |
A156V |
probably benign |
Het |
| Tas2r115 |
T |
A |
6: 132,714,682 (GRCm39) |
I90L |
probably benign |
Het |
| Tmem200a |
T |
C |
10: 25,870,002 (GRCm39) |
H89R |
probably benign |
Het |
| Ubxn4 |
G |
A |
1: 128,190,641 (GRCm39) |
E256K |
probably benign |
Het |
| Xrn1 |
T |
C |
9: 95,906,244 (GRCm39) |
S1212P |
probably damaging |
Het |
| Zfp408 |
T |
C |
2: 91,475,882 (GRCm39) |
Y424C |
possibly damaging |
Het |
|
| Other mutations in Dnaaf1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01113:Dnaaf1
|
APN |
8 |
120,309,317 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02664:Dnaaf1
|
APN |
8 |
120,309,260 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02755:Dnaaf1
|
APN |
8 |
120,317,410 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03391:Dnaaf1
|
APN |
8 |
120,309,355 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7097_Dnaaf1_566
|
UTSW |
8 |
120,323,538 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0329:Dnaaf1
|
UTSW |
8 |
120,322,756 (GRCm39) |
unclassified |
probably benign |
|
|
R0483:Dnaaf1
|
UTSW |
8 |
120,317,405 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1464:Dnaaf1
|
UTSW |
8 |
120,306,049 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1464:Dnaaf1
|
UTSW |
8 |
120,306,049 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1532:Dnaaf1
|
UTSW |
8 |
120,304,162 (GRCm39) |
missense |
probably benign |
|
|
R1847:Dnaaf1
|
UTSW |
8 |
120,309,616 (GRCm39) |
missense |
probably benign |
0.41 |
|
R2060:Dnaaf1
|
UTSW |
8 |
120,317,341 (GRCm39) |
missense |
probably benign |
0.27 |
|
R2108:Dnaaf1
|
UTSW |
8 |
120,309,471 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2356:Dnaaf1
|
UTSW |
8 |
120,315,026 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4801:Dnaaf1
|
UTSW |
8 |
120,304,100 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4802:Dnaaf1
|
UTSW |
8 |
120,304,100 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5232:Dnaaf1
|
UTSW |
8 |
120,317,329 (GRCm39) |
missense |
probably benign |
0.42 |
|
R6846:Dnaaf1
|
UTSW |
8 |
120,309,401 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7080:Dnaaf1
|
UTSW |
8 |
120,309,335 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7097:Dnaaf1
|
UTSW |
8 |
120,323,538 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7360:Dnaaf1
|
UTSW |
8 |
120,304,090 (GRCm39) |
missense |
probably benign |
0.37 |
|
R7940:Dnaaf1
|
UTSW |
8 |
120,309,454 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R8773:Dnaaf1
|
UTSW |
8 |
120,302,194 (GRCm39) |
missense |
probably benign |
|
|
R9090:Dnaaf1
|
UTSW |
8 |
120,324,392 (GRCm39) |
missense |
probably benign |
0.30 |
|
R9170:Dnaaf1
|
UTSW |
8 |
120,302,195 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9271:Dnaaf1
|
UTSW |
8 |
120,324,392 (GRCm39) |
missense |
probably benign |
0.30 |
|
R9562:Dnaaf1
|
UTSW |
8 |
120,309,392 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9607:Dnaaf1
|
UTSW |
8 |
120,309,350 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R9622:Dnaaf1
|
UTSW |
8 |
120,315,001 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9667:Dnaaf1
|
UTSW |
8 |
120,306,043 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
Z1176:Dnaaf1
|
UTSW |
8 |
120,302,180 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTCCAACTCAAGGCACTGTTCCTG -3'
(R):5'- CGCAACTGTGAGACTAAGGAAAACCTG -3'
Sequencing Primer
(F):5'- tcaaggcactgttcctgcttAG -3'
(R):5'- ccagaagcgggtgtcag -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation