Incidental Mutation 'R7360:Dnaaf1'
| ID |
571267 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dnaaf1
|
| Ensembl Gene |
ENSMUSG00000031831 |
| Gene Name |
dynein, axonemal assembly factor 1 |
| Synonyms |
Lrrc50, m4Bei, 4930457P18Rik |
| MMRRC Submission |
045446-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.798)
|
| Stock # |
R7360 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
120301974-120325193 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 120304090 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 43
(T43A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000090790
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036049]
[ENSMUST00000093100]
[ENSMUST00000212065]
[ENSMUST00000212198]
|
| AlphaFold |
Q9D2H9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036049
|
| SMART Domains |
Protein: ENSMUSP00000044371
Gene: ENSMUSG00000034189
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:adh_short
|
68 |
260 |
1.3e-37 |
PFAM |
|
Pfam:adh_short_C2
|
74 |
256 |
3.2e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000093100
AA Change: T43A
PolyPhen 2
Score 0.370 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000090790
Gene: ENSMUSG00000031831
AA Change: T43A
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212065
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212198
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (54/54) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot11 |
G |
C |
4: 106,606,548 (GRCm39) |
P534A |
possibly damaging |
Het |
| Arhgef26 |
T |
A |
3: 62,355,626 (GRCm39) |
Y733N |
possibly damaging |
Het |
| Aste1 |
G |
T |
9: 105,274,835 (GRCm39) |
M358I |
probably damaging |
Het |
| B4galnt3 |
C |
T |
6: 120,209,940 (GRCm39) |
W61* |
probably null |
Het |
| Brd9 |
C |
T |
13: 74,092,942 (GRCm39) |
R311W |
probably benign |
Het |
| Cdkn1c |
T |
C |
7: 143,014,431 (GRCm39) |
D5G |
possibly damaging |
Het |
| Cerk |
A |
G |
15: 86,043,327 (GRCm39) |
F158S |
probably damaging |
Het |
| Clec2m |
C |
T |
6: 129,303,710 (GRCm39) |
R85H |
probably benign |
Het |
| Cnot4 |
T |
A |
6: 35,041,941 (GRCm39) |
E235V |
probably damaging |
Het |
| Crmp1 |
T |
C |
5: 37,433,624 (GRCm39) |
V275A |
possibly damaging |
Het |
| Dcbld2 |
C |
A |
16: 58,285,683 (GRCm39) |
|
probably null |
Het |
| Dip2a |
T |
C |
10: 76,114,394 (GRCm39) |
R1029G |
probably damaging |
Het |
| Eaf2 |
C |
T |
16: 36,648,514 (GRCm39) |
S2N |
probably benign |
Het |
| Eif2b4 |
T |
C |
5: 31,348,719 (GRCm39) |
D164G |
probably benign |
Het |
| Fpgs |
T |
C |
2: 32,584,005 (GRCm39) |
Y45C |
possibly damaging |
Het |
| Gm1527 |
C |
T |
3: 28,968,691 (GRCm39) |
Q248* |
probably null |
Het |
| Gm29666 |
C |
T |
15: 84,798,469 (GRCm39) |
A31T |
unknown |
Het |
| Gmip |
C |
A |
8: 70,263,892 (GRCm39) |
A112D |
probably damaging |
Het |
| Hibadh |
C |
T |
6: 52,617,197 (GRCm39) |
G13S |
probably benign |
Het |
| Hmcn1 |
A |
T |
1: 150,494,597 (GRCm39) |
V4164D |
probably damaging |
Het |
| Kif15 |
A |
T |
9: 122,820,202 (GRCm39) |
N580I |
probably benign |
Het |
| Krt25 |
G |
A |
11: 99,208,232 (GRCm39) |
T332M |
probably benign |
Het |
| Krt88 |
G |
T |
15: 101,345,643 (GRCm39) |
|
probably benign |
Het |
| Lrrk2 |
T |
C |
15: 91,615,858 (GRCm39) |
|
probably null |
Het |
| Mapkapk5 |
A |
G |
5: 121,675,169 (GRCm39) |
|
probably benign |
Het |
| Myh7b |
C |
T |
2: 155,474,460 (GRCm39) |
S1725L |
probably benign |
Het |
| Nckap1l |
T |
G |
15: 103,384,526 (GRCm39) |
|
probably null |
Het |
| Nphp3 |
A |
G |
9: 103,893,277 (GRCm39) |
|
probably null |
Het |
| Obscn |
A |
C |
11: 58,973,185 (GRCm39) |
V1996G |
probably damaging |
Het |
| Or14j8 |
T |
A |
17: 38,263,900 (GRCm39) |
N5I |
probably damaging |
Het |
| Or4a66 |
A |
T |
2: 88,531,331 (GRCm39) |
V114E |
probably damaging |
Het |
| Parp8 |
T |
C |
13: 117,032,307 (GRCm39) |
T289A |
probably benign |
Het |
| Pcsk5 |
T |
C |
19: 17,492,577 (GRCm39) |
K932R |
probably benign |
Het |
| Pde4dip |
T |
C |
3: 97,625,632 (GRCm39) |
D1322G |
probably benign |
Het |
| Peli3 |
A |
T |
19: 4,985,103 (GRCm39) |
M136K |
possibly damaging |
Het |
| Pgm5 |
A |
G |
19: 24,812,181 (GRCm39) |
I117T |
probably damaging |
Het |
| Ppm1g |
T |
C |
5: 31,360,621 (GRCm39) |
D478G |
probably damaging |
Het |
| Ppp2r5c |
A |
G |
12: 110,541,272 (GRCm39) |
T474A |
probably benign |
Het |
| Ptger3 |
T |
C |
3: 157,272,764 (GRCm39) |
V37A |
probably benign |
Het |
| Ptprz1 |
T |
C |
6: 23,000,906 (GRCm39) |
S999P |
probably damaging |
Het |
| Pygl |
C |
T |
12: 70,274,306 (GRCm39) |
G18S |
probably benign |
Het |
| Rest |
T |
C |
5: 77,428,976 (GRCm39) |
V465A |
probably benign |
Het |
| Sart1 |
T |
C |
19: 5,433,231 (GRCm39) |
D422G |
probably damaging |
Het |
| Sgk1 |
A |
G |
10: 21,869,972 (GRCm39) |
M4V |
probably benign |
Het |
| Slc33a1 |
A |
G |
3: 63,855,075 (GRCm39) |
V395A |
possibly damaging |
Het |
| Slc38a11 |
A |
T |
2: 65,184,139 (GRCm39) |
S171T |
possibly damaging |
Het |
| Slc4a2 |
T |
A |
5: 24,634,713 (GRCm39) |
S76T |
probably benign |
Het |
| Spata31h1 |
T |
C |
10: 82,132,341 (GRCm39) |
D223G |
unknown |
Het |
| Ssc4d |
T |
A |
5: 135,994,965 (GRCm39) |
S184C |
probably damaging |
Het |
| Tspoap1 |
A |
G |
11: 87,669,347 (GRCm39) |
Y1540C |
probably benign |
Het |
| Ube3a |
T |
A |
7: 58,926,383 (GRCm39) |
L408Q |
probably damaging |
Het |
| Usp43 |
C |
A |
11: 67,767,155 (GRCm39) |
|
probably null |
Het |
| Zan |
A |
C |
5: 137,385,232 (GRCm39) |
V5067G |
unknown |
Het |
| Zfp180 |
C |
A |
7: 23,804,915 (GRCm39) |
L445I |
probably 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 |
|
|
R0467:Dnaaf1
|
UTSW |
8 |
120,317,471 (GRCm39) |
missense |
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 |
|
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'- AAGCACAGGTTCCCACTTAC -3'
(R):5'- TCTGTGCAAGGGGCTAAGTG -3'
Sequencing Primer
(F):5'- GTGTCTCACTTTGTAGCCCAGG -3'
(R):5'- AAGTGGCTATTACTGCGAGATGTCC -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation