Incidental Mutation 'R5200:Dnaaf4'
ID |
400703 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dnaaf4
|
Ensembl Gene |
ENSMUSG00000092192 |
Gene Name |
dynein axonemal assembly factor 4 |
Synonyms |
EKN1, Dyx1c1, 1700010I24Rik, b2b811Clo |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.819)
|
Stock # |
R5200 (G1)
|
Quality Score |
156 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
72866067-72880346 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 72879713 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 418
(S418P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000034734
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034734]
[ENSMUST00000098567]
[ENSMUST00000149692]
|
AlphaFold |
Q8R368 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000034734
AA Change: S418P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000034734 Gene: ENSMUSG00000092192 AA Change: S418P
Domain | Start | End | E-Value | Type |
Pfam:CS
|
6 |
77 |
5.8e-9 |
PFAM |
coiled coil region
|
101 |
161 |
N/A |
INTRINSIC |
TPR
|
288 |
321 |
2.56e1 |
SMART |
TPR
|
322 |
355 |
1.26e-1 |
SMART |
TPR
|
364 |
397 |
2.59e-3 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000098567
AA Change: S298P
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000096166 Gene: ENSMUSG00000092192 AA Change: S298P
Domain | Start | End | E-Value | Type |
Pfam:CS
|
6 |
77 |
1.3e-14 |
PFAM |
TPR
|
168 |
201 |
2.56e1 |
SMART |
TPR
|
202 |
235 |
1.26e-1 |
SMART |
TPR
|
244 |
277 |
2.59e-3 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000149692
|
SMART Domains |
Protein: ENSMUSP00000120629 Gene: ENSMUSG00000089865
Domain | Start | End | E-Value | Type |
Pfam:CS
|
6 |
77 |
2.1e-9 |
PFAM |
coiled coil region
|
101 |
161 |
N/A |
INTRINSIC |
Pfam:TPR_11
|
286 |
352 |
2e-14 |
PFAM |
Pfam:TPR_1
|
322 |
352 |
5.6e-6 |
PFAM |
Blast:TPR
|
364 |
386 |
1e-5 |
BLAST |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000178005
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193501
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.5%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a tetratricopeptide repeat domain-containing protein. The encoded protein interacts with estrogen receptors and the heat shock proteins, Hsp70 and Hsp90. An homologous protein in rat has been shown to function in neuronal migration in the developing neocortex. A chromosomal translocation involving this gene is associated with a susceptibility to developmental dyslexia. Mutations in this gene are associated with deficits in reading and spelling. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the downstream cell cycle progression 1 (CCPG1) gene. [provided by RefSeq, Mar 2011] PHENOTYPE: Mice homozygous for a knock-out allele exhibit both pre- and postnatal lethality, hydrocephalus, and defects in organ laterality and ciliary motility. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akap9 |
T |
C |
5: 4,010,734 (GRCm39) |
V497A |
probably benign |
Het |
Alx3 |
T |
C |
3: 107,507,980 (GRCm39) |
F163S |
possibly damaging |
Het |
Ankmy1 |
T |
C |
1: 92,798,014 (GRCm39) |
R997G |
probably benign |
Het |
Arfgef2 |
T |
C |
2: 166,702,604 (GRCm39) |
S848P |
probably benign |
Het |
Atp11b |
A |
G |
3: 35,891,156 (GRCm39) |
I810V |
probably benign |
Het |
C1ql4 |
T |
G |
15: 98,982,718 (GRCm39) |
I212L |
probably benign |
Het |
Cep63 |
T |
C |
9: 102,475,387 (GRCm39) |
Y443C |
probably benign |
Het |
Cfap45 |
C |
T |
1: 172,372,696 (GRCm39) |
Q464* |
probably null |
Het |
Clcn3 |
T |
C |
8: 61,376,039 (GRCm39) |
K618R |
probably damaging |
Het |
Dmpk |
C |
G |
7: 18,821,944 (GRCm39) |
L301V |
probably benign |
Het |
H2-M10.2 |
T |
G |
17: 36,595,641 (GRCm39) |
R216S |
probably benign |
Het |
Hook1 |
A |
G |
4: 95,881,367 (GRCm39) |
D113G |
probably damaging |
Het |
Ift122 |
A |
G |
6: 115,897,340 (GRCm39) |
E914G |
probably damaging |
Het |
Insr |
A |
G |
8: 3,248,059 (GRCm39) |
|
probably null |
Het |
Itpr2 |
A |
T |
6: 146,045,605 (GRCm39) |
|
probably null |
Het |
Myo6 |
C |
T |
9: 80,183,656 (GRCm39) |
Q684* |
probably null |
Het |
Nrde2 |
T |
A |
12: 100,096,756 (GRCm39) |
I1015F |
possibly damaging |
Het |
Or12e9 |
T |
A |
2: 87,202,446 (GRCm39) |
V190E |
probably damaging |
Het |
Or2d4 |
G |
A |
7: 106,544,187 (GRCm39) |
T7I |
possibly damaging |
Het |
Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
Pappa |
A |
T |
4: 65,074,076 (GRCm39) |
N210I |
probably damaging |
Het |
Pax4 |
G |
A |
6: 28,445,138 (GRCm39) |
P179L |
probably damaging |
Het |
Pcx |
G |
A |
19: 4,668,532 (GRCm39) |
D656N |
probably damaging |
Het |
Pms1 |
T |
A |
1: 53,245,916 (GRCm39) |
H541L |
probably benign |
Het |
Pten |
C |
T |
19: 32,777,291 (GRCm39) |
P95L |
probably damaging |
Het |
Rsrc2 |
G |
A |
5: 123,877,562 (GRCm39) |
R140* |
probably null |
Het |
Shc3 |
T |
C |
13: 51,670,601 (GRCm39) |
M49V |
probably damaging |
Het |
Snap91 |
C |
G |
9: 86,697,497 (GRCm39) |
K288N |
probably damaging |
Het |
Spag17 |
C |
T |
3: 99,970,787 (GRCm39) |
Q1324* |
probably null |
Het |
Tasor |
A |
G |
14: 27,151,183 (GRCm39) |
E53G |
probably benign |
Het |
Tfr2 |
A |
G |
5: 137,569,242 (GRCm39) |
|
probably benign |
Het |
Tgfbrap1 |
A |
T |
1: 43,114,803 (GRCm39) |
I99K |
probably damaging |
Het |
Tmem38a |
T |
A |
8: 73,333,878 (GRCm39) |
V119E |
probably damaging |
Het |
Tmtc4 |
T |
G |
14: 123,182,969 (GRCm39) |
D243A |
probably benign |
Het |
Tnc |
A |
T |
4: 63,889,515 (GRCm39) |
S1755T |
probably damaging |
Het |
Trim67 |
T |
C |
8: 125,551,589 (GRCm39) |
S590P |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,590,287 (GRCm39) |
T12814S |
probably damaging |
Het |
Uspl1 |
T |
A |
5: 149,150,923 (GRCm39) |
S708T |
probably benign |
Het |
Vmn2r69 |
A |
T |
7: 85,055,717 (GRCm39) |
F807Y |
probably damaging |
Het |
Vmn2r97 |
C |
T |
17: 19,148,615 (GRCm39) |
P170L |
probably damaging |
Het |
Zfp612 |
C |
T |
8: 110,816,532 (GRCm39) |
Q580* |
probably null |
Het |
|
Other mutations in Dnaaf4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02198:Dnaaf4
|
APN |
9 |
72,876,348 (GRCm39) |
missense |
probably benign |
0.02 |
R0211:Dnaaf4
|
UTSW |
9 |
72,868,649 (GRCm39) |
missense |
possibly damaging |
0.82 |
R0310:Dnaaf4
|
UTSW |
9 |
72,879,618 (GRCm39) |
missense |
probably damaging |
1.00 |
R0712:Dnaaf4
|
UTSW |
9 |
72,867,939 (GRCm39) |
nonsense |
probably null |
|
R1791:Dnaaf4
|
UTSW |
9 |
72,867,966 (GRCm39) |
missense |
possibly damaging |
0.90 |
R1927:Dnaaf4
|
UTSW |
9 |
72,867,909 (GRCm39) |
missense |
probably damaging |
0.98 |
R3085:Dnaaf4
|
UTSW |
9 |
72,879,688 (GRCm39) |
missense |
probably benign |
0.00 |
R4624:Dnaaf4
|
UTSW |
9 |
72,871,453 (GRCm39) |
missense |
probably benign |
0.01 |
R4998:Dnaaf4
|
UTSW |
9 |
72,867,960 (GRCm39) |
missense |
possibly damaging |
0.93 |
R5008:Dnaaf4
|
UTSW |
9 |
72,879,600 (GRCm39) |
intron |
probably benign |
|
R5256:Dnaaf4
|
UTSW |
9 |
72,879,362 (GRCm39) |
critical splice donor site |
probably null |
|
R5806:Dnaaf4
|
UTSW |
9 |
72,869,336 (GRCm39) |
missense |
probably benign |
0.06 |
R5930:Dnaaf4
|
UTSW |
9 |
72,879,280 (GRCm39) |
missense |
probably damaging |
1.00 |
R6751:Dnaaf4
|
UTSW |
9 |
72,869,257 (GRCm39) |
missense |
probably benign |
0.08 |
R8018:Dnaaf4
|
UTSW |
9 |
72,879,598 (GRCm39) |
intron |
probably benign |
|
R9373:Dnaaf4
|
UTSW |
9 |
72,871,462 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Dnaaf4
|
UTSW |
9 |
72,869,246 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
Predicted Primers |
PCR Primer
(F):5'- AGGAGACCCTGTTTCAGAAAGAC -3'
(R):5'- GAGGACTCAAACAGCCTGTTCTC -3'
Sequencing Primer
(F):5'- CCCTGTTTCAGAAAGACAAAAAGTTG -3'
(R):5'- TGGCCTCAAGCTCATAGAGACTTG -3'
|
Posted On |
2016-07-06 |