Incidental Mutation 'R7233:Dnaaf9'
ID |
562604 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dnaaf9
|
Ensembl Gene |
ENSMUSG00000027309 |
Gene Name |
dynein axonemal assembly factor 9 |
Synonyms |
4930402H24Rik |
MMRRC Submission |
045343-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7233 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
130548120-130682565 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 130648708 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Leucine
at position 258
(R258L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000105872
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044766]
[ENSMUST00000110243]
[ENSMUST00000119422]
[ENSMUST00000120316]
[ENSMUST00000138990]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000044766
|
SMART Domains |
Protein: ENSMUSP00000046992 Gene: ENSMUSG00000027309
Domain | Start | End | E-Value | Type |
low complexity region
|
134 |
145 |
N/A |
INTRINSIC |
low complexity region
|
463 |
473 |
N/A |
INTRINSIC |
low complexity region
|
533 |
545 |
N/A |
INTRINSIC |
coiled coil region
|
1143 |
1171 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000110243
AA Change: R258L
|
SMART Domains |
Protein: ENSMUSP00000105872 Gene: ENSMUSG00000027309 AA Change: R258L
Domain | Start | End | E-Value | Type |
low complexity region
|
134 |
145 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000119422
|
SMART Domains |
Protein: ENSMUSP00000113481 Gene: ENSMUSG00000027309
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
14 |
N/A |
INTRINSIC |
low complexity region
|
332 |
342 |
N/A |
INTRINSIC |
low complexity region
|
402 |
414 |
N/A |
INTRINSIC |
coiled coil region
|
1012 |
1040 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000120316
|
SMART Domains |
Protein: ENSMUSP00000112540 Gene: ENSMUSG00000027309
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
14 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000138990
|
Meta Mutation Damage Score |
0.0869 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
Validation Efficiency |
100% (75/75) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an uncharacterized protein with a C-terminal coiled-coil region. The gene is located on chromosome 20p13 in a 1.8 Mb region linked to a spinocerebellar ataxia phenotype, but this gene does not appear to be a disease candidate. [provided by RefSeq, Dec 2011]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 76 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acox3 |
A |
G |
5: 35,762,641 (GRCm39) |
K505R |
probably benign |
Het |
Arhgap24 |
A |
G |
5: 103,026,367 (GRCm39) |
K263E |
probably benign |
Het |
Ark2n |
C |
A |
18: 77,722,882 (GRCm39) |
V385F |
probably damaging |
Het |
Armc2 |
A |
T |
10: 41,799,800 (GRCm39) |
V686D |
probably damaging |
Het |
Bhmt |
T |
A |
13: 93,758,025 (GRCm39) |
K229* |
probably null |
Het |
Birc2 |
A |
T |
9: 7,827,009 (GRCm39) |
C326S |
probably damaging |
Het |
Blzf1 |
A |
T |
1: 164,123,512 (GRCm39) |
|
probably null |
Het |
Camsap3 |
T |
A |
8: 3,650,371 (GRCm39) |
F223Y |
probably damaging |
Het |
Ccdc126 |
C |
T |
6: 49,316,775 (GRCm39) |
T85M |
probably damaging |
Het |
Ccng2 |
C |
G |
5: 93,421,202 (GRCm39) |
S237R |
probably benign |
Het |
Ces2h |
T |
A |
8: 105,744,088 (GRCm39) |
C279S |
probably damaging |
Het |
Cfap44 |
T |
A |
16: 44,242,771 (GRCm39) |
L725Q |
probably damaging |
Het |
Cibar2 |
A |
G |
8: 120,898,661 (GRCm39) |
L131P |
probably damaging |
Het |
Clip1 |
T |
C |
5: 123,749,922 (GRCm39) |
E987G |
probably damaging |
Het |
Cog1 |
G |
T |
11: 113,540,556 (GRCm39) |
R57L |
probably damaging |
Het |
Ctdspl |
T |
C |
9: 118,849,114 (GRCm39) |
|
probably null |
Het |
Dnttip2 |
T |
C |
3: 122,070,039 (GRCm39) |
V418A |
probably benign |
Het |
Dop1a |
G |
A |
9: 86,403,749 (GRCm39) |
A186T |
probably benign |
Het |
Efcab3 |
T |
C |
11: 104,730,669 (GRCm39) |
S1966P |
possibly damaging |
Het |
Engase |
T |
A |
11: 118,373,827 (GRCm39) |
V323E |
probably damaging |
Het |
Farsb |
A |
G |
1: 78,447,718 (GRCm39) |
|
probably null |
Het |
Fpr2 |
G |
T |
17: 18,113,766 (GRCm39) |
W254L |
probably damaging |
Het |
Frmd3 |
A |
C |
4: 73,932,023 (GRCm39) |
H6P |
probably benign |
Het |
Fscn1 |
C |
T |
5: 142,956,029 (GRCm39) |
S366L |
possibly damaging |
Het |
Galt |
T |
A |
4: 41,758,267 (GRCm39) |
I344N |
probably benign |
Het |
Gfra4 |
A |
T |
2: 130,883,037 (GRCm39) |
V194E |
probably damaging |
Het |
Golgb1 |
T |
C |
16: 36,735,120 (GRCm39) |
S1497P |
possibly damaging |
Het |
Igfn1 |
A |
C |
1: 135,897,873 (GRCm39) |
S898A |
probably benign |
Het |
Igkv1-135 |
T |
C |
6: 67,587,332 (GRCm39) |
S68P |
probably benign |
Het |
Lama2 |
A |
T |
10: 27,107,659 (GRCm39) |
C784S |
probably damaging |
Het |
Lars2 |
G |
T |
9: 123,241,019 (GRCm39) |
G229* |
probably null |
Het |
Lats2 |
A |
T |
14: 57,960,151 (GRCm39) |
|
probably null |
Het |
Lgr6 |
A |
C |
1: 134,928,214 (GRCm39) |
|
probably null |
Het |
Lrp1 |
A |
T |
10: 127,430,930 (GRCm39) |
I373N |
probably damaging |
Het |
Maml2 |
A |
T |
9: 13,532,067 (GRCm39) |
H427L |
|
Het |
Mansc1 |
A |
G |
6: 134,598,806 (GRCm39) |
V37A |
probably damaging |
Het |
Map4k3 |
A |
G |
17: 80,905,077 (GRCm39) |
V738A |
possibly damaging |
Het |
Mastl |
A |
G |
2: 23,023,670 (GRCm39) |
I351T |
probably benign |
Het |
Mcmdc2 |
T |
G |
1: 10,002,408 (GRCm39) |
|
probably null |
Het |
Mrgprd |
A |
G |
7: 144,875,672 (GRCm39) |
D181G |
possibly damaging |
Het |
Msantd5f9 |
G |
T |
4: 73,835,808 (GRCm39) |
L219M |
probably benign |
Het |
Msra |
T |
C |
14: 64,360,714 (GRCm39) |
Y209C |
probably damaging |
Het |
Musk |
A |
G |
4: 58,373,307 (GRCm39) |
E759G |
possibly damaging |
Het |
Nab1 |
T |
C |
1: 52,498,378 (GRCm39) |
*487W |
probably null |
Het |
Or2z9 |
A |
G |
8: 72,853,900 (GRCm39) |
T99A |
probably benign |
Het |
Or5p66 |
T |
A |
7: 107,885,923 (GRCm39) |
T137S |
probably benign |
Het |
Pkdrej |
A |
G |
15: 85,705,349 (GRCm39) |
S196P |
probably damaging |
Het |
Pln |
A |
G |
10: 53,220,008 (GRCm39) |
T17A |
probably damaging |
Het |
Polrmt |
A |
T |
10: 79,581,619 (GRCm39) |
|
probably null |
Het |
Ppp1r14a |
T |
A |
7: 28,988,949 (GRCm39) |
Y64N |
probably damaging |
Het |
Ppp1r9a |
A |
T |
6: 5,134,804 (GRCm39) |
H959L |
probably benign |
Het |
Pramel42 |
A |
T |
5: 94,685,524 (GRCm39) |
M395L |
probably benign |
Het |
Prmt7 |
A |
G |
8: 106,946,642 (GRCm39) |
T75A |
probably damaging |
Het |
Prom1 |
T |
C |
5: 44,194,816 (GRCm39) |
S319G |
possibly damaging |
Het |
Prtg |
G |
A |
9: 72,819,273 (GRCm39) |
G1089S |
probably benign |
Het |
Ptprd |
T |
C |
4: 75,978,020 (GRCm39) |
D596G |
probably benign |
Het |
Rbm12 |
C |
T |
2: 155,937,894 (GRCm39) |
G793S |
unknown |
Het |
Rora |
A |
T |
9: 69,104,804 (GRCm39) |
R43* |
probably null |
Het |
Sez6 |
T |
C |
11: 77,863,963 (GRCm39) |
Y482H |
probably damaging |
Het |
Skint2 |
A |
T |
4: 112,483,122 (GRCm39) |
N176Y |
probably damaging |
Het |
Slc44a2 |
G |
T |
9: 21,259,445 (GRCm39) |
|
probably null |
Het |
Sox6 |
A |
G |
7: 115,089,044 (GRCm39) |
V606A |
possibly damaging |
Het |
Spa17 |
T |
C |
9: 37,514,587 (GRCm39) |
|
probably null |
Het |
Syne1 |
A |
C |
10: 5,252,160 (GRCm39) |
L2498R |
probably damaging |
Het |
Synpo2 |
T |
G |
3: 122,911,333 (GRCm39) |
H104P |
probably benign |
Het |
Tapbp |
G |
T |
17: 34,138,943 (GRCm39) |
A46S |
probably damaging |
Het |
Tbc1d30 |
C |
A |
10: 121,107,962 (GRCm39) |
R480L |
probably benign |
Het |
Tshz1 |
T |
C |
18: 84,032,944 (GRCm39) |
D488G |
possibly damaging |
Het |
Ulk1 |
A |
G |
5: 110,956,908 (GRCm39) |
L70P |
probably damaging |
Het |
Zcchc17 |
T |
A |
4: 130,221,116 (GRCm39) |
D145V |
probably damaging |
Het |
Zfp318 |
T |
A |
17: 46,716,978 (GRCm39) |
L1037M |
probably damaging |
Het |
Zfp324 |
C |
T |
7: 12,704,524 (GRCm39) |
Q238* |
probably null |
Het |
Zfp874a |
A |
G |
13: 67,590,776 (GRCm39) |
Y303H |
possibly damaging |
Het |
Zfp975 |
T |
C |
7: 42,311,918 (GRCm39) |
K232E |
probably benign |
Het |
Zfp982 |
T |
A |
4: 147,597,718 (GRCm39) |
N358K |
probably benign |
Het |
Zmiz1 |
C |
T |
14: 25,650,092 (GRCm39) |
P417S |
possibly damaging |
Het |
|
Other mutations in Dnaaf9 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00556:Dnaaf9
|
APN |
2 |
130,626,377 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01093:Dnaaf9
|
APN |
2 |
130,619,156 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01111:Dnaaf9
|
APN |
2 |
130,578,518 (GRCm39) |
missense |
possibly damaging |
0.66 |
IGL01146:Dnaaf9
|
APN |
2 |
130,612,591 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01346:Dnaaf9
|
APN |
2 |
130,633,766 (GRCm39) |
splice site |
probably benign |
|
IGL01548:Dnaaf9
|
APN |
2 |
130,656,179 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02339:Dnaaf9
|
APN |
2 |
130,581,385 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02637:Dnaaf9
|
APN |
2 |
130,656,227 (GRCm39) |
intron |
probably benign |
|
IGL02926:Dnaaf9
|
APN |
2 |
130,554,286 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02978:Dnaaf9
|
APN |
2 |
130,569,082 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03126:Dnaaf9
|
APN |
2 |
130,633,915 (GRCm39) |
splice site |
probably null |
|
IGL03387:Dnaaf9
|
APN |
2 |
130,559,200 (GRCm39) |
missense |
probably damaging |
1.00 |
best_times
|
UTSW |
2 |
130,578,496 (GRCm39) |
missense |
probably damaging |
0.99 |
Hard_times
|
UTSW |
2 |
130,555,390 (GRCm39) |
missense |
probably benign |
0.16 |
worst_times
|
UTSW |
2 |
130,555,334 (GRCm39) |
missense |
probably damaging |
1.00 |
FR4304:Dnaaf9
|
UTSW |
2 |
130,612,668 (GRCm39) |
small insertion |
probably benign |
|
FR4342:Dnaaf9
|
UTSW |
2 |
130,612,662 (GRCm39) |
small insertion |
probably benign |
|
FR4589:Dnaaf9
|
UTSW |
2 |
130,612,672 (GRCm39) |
small insertion |
probably benign |
|
FR4589:Dnaaf9
|
UTSW |
2 |
130,612,665 (GRCm39) |
small insertion |
probably benign |
|
FR4737:Dnaaf9
|
UTSW |
2 |
130,612,672 (GRCm39) |
small insertion |
probably benign |
|
FR4976:Dnaaf9
|
UTSW |
2 |
130,612,673 (GRCm39) |
small insertion |
probably benign |
|
FR4976:Dnaaf9
|
UTSW |
2 |
130,612,662 (GRCm39) |
small insertion |
probably benign |
|
FR4976:Dnaaf9
|
UTSW |
2 |
130,612,659 (GRCm39) |
small insertion |
probably benign |
|
R0034:Dnaaf9
|
UTSW |
2 |
130,578,492 (GRCm39) |
missense |
probably damaging |
1.00 |
R0034:Dnaaf9
|
UTSW |
2 |
130,578,492 (GRCm39) |
missense |
probably damaging |
1.00 |
R0357:Dnaaf9
|
UTSW |
2 |
130,554,866 (GRCm39) |
splice site |
probably benign |
|
R0379:Dnaaf9
|
UTSW |
2 |
130,627,466 (GRCm39) |
splice site |
probably benign |
|
R0515:Dnaaf9
|
UTSW |
2 |
130,582,408 (GRCm39) |
missense |
probably damaging |
1.00 |
R0576:Dnaaf9
|
UTSW |
2 |
130,555,390 (GRCm39) |
missense |
probably benign |
0.16 |
R0811:Dnaaf9
|
UTSW |
2 |
130,555,334 (GRCm39) |
missense |
probably damaging |
1.00 |
R0812:Dnaaf9
|
UTSW |
2 |
130,555,334 (GRCm39) |
missense |
probably damaging |
1.00 |
R1334:Dnaaf9
|
UTSW |
2 |
130,617,642 (GRCm39) |
splice site |
probably null |
|
R1485:Dnaaf9
|
UTSW |
2 |
130,590,603 (GRCm39) |
critical splice donor site |
probably null |
|
R1486:Dnaaf9
|
UTSW |
2 |
130,579,338 (GRCm39) |
missense |
probably damaging |
1.00 |
R1670:Dnaaf9
|
UTSW |
2 |
130,554,299 (GRCm39) |
missense |
probably damaging |
1.00 |
R1678:Dnaaf9
|
UTSW |
2 |
130,656,193 (GRCm39) |
missense |
probably damaging |
0.99 |
R1700:Dnaaf9
|
UTSW |
2 |
130,551,858 (GRCm39) |
missense |
probably damaging |
0.99 |
R1742:Dnaaf9
|
UTSW |
2 |
130,582,315 (GRCm39) |
splice site |
probably null |
|
R2046:Dnaaf9
|
UTSW |
2 |
130,652,837 (GRCm39) |
missense |
possibly damaging |
0.61 |
R2374:Dnaaf9
|
UTSW |
2 |
130,662,494 (GRCm39) |
missense |
probably damaging |
1.00 |
R3878:Dnaaf9
|
UTSW |
2 |
130,620,423 (GRCm39) |
missense |
possibly damaging |
0.92 |
R3907:Dnaaf9
|
UTSW |
2 |
130,578,496 (GRCm39) |
missense |
probably damaging |
0.99 |
R4467:Dnaaf9
|
UTSW |
2 |
130,609,567 (GRCm39) |
missense |
probably damaging |
0.96 |
R4931:Dnaaf9
|
UTSW |
2 |
130,583,793 (GRCm39) |
missense |
possibly damaging |
0.58 |
R5098:Dnaaf9
|
UTSW |
2 |
130,640,101 (GRCm39) |
missense |
probably damaging |
0.99 |
R5191:Dnaaf9
|
UTSW |
2 |
130,579,323 (GRCm39) |
missense |
possibly damaging |
0.68 |
R5313:Dnaaf9
|
UTSW |
2 |
130,551,188 (GRCm39) |
missense |
probably damaging |
1.00 |
R5405:Dnaaf9
|
UTSW |
2 |
130,554,380 (GRCm39) |
missense |
probably damaging |
1.00 |
R5436:Dnaaf9
|
UTSW |
2 |
130,606,419 (GRCm39) |
missense |
probably benign |
0.16 |
R5522:Dnaaf9
|
UTSW |
2 |
130,656,222 (GRCm39) |
intron |
probably benign |
|
R5783:Dnaaf9
|
UTSW |
2 |
130,581,003 (GRCm39) |
missense |
possibly damaging |
0.59 |
R5931:Dnaaf9
|
UTSW |
2 |
130,656,109 (GRCm39) |
missense |
probably damaging |
1.00 |
R6145:Dnaaf9
|
UTSW |
2 |
130,620,393 (GRCm39) |
missense |
probably benign |
|
R6732:Dnaaf9
|
UTSW |
2 |
130,652,740 (GRCm39) |
critical splice donor site |
probably null |
|
R6938:Dnaaf9
|
UTSW |
2 |
130,617,673 (GRCm39) |
missense |
probably benign |
0.00 |
R7161:Dnaaf9
|
UTSW |
2 |
130,648,708 (GRCm39) |
missense |
unknown |
|
R7193:Dnaaf9
|
UTSW |
2 |
130,648,708 (GRCm39) |
missense |
unknown |
|
R7194:Dnaaf9
|
UTSW |
2 |
130,648,708 (GRCm39) |
missense |
unknown |
|
R7234:Dnaaf9
|
UTSW |
2 |
130,648,708 (GRCm39) |
missense |
unknown |
|
R7238:Dnaaf9
|
UTSW |
2 |
130,648,708 (GRCm39) |
missense |
unknown |
|
R7239:Dnaaf9
|
UTSW |
2 |
130,648,708 (GRCm39) |
missense |
unknown |
|
R7268:Dnaaf9
|
UTSW |
2 |
130,648,708 (GRCm39) |
missense |
unknown |
|
R7807:Dnaaf9
|
UTSW |
2 |
130,552,785 (GRCm39) |
missense |
probably damaging |
1.00 |
R7904:Dnaaf9
|
UTSW |
2 |
130,633,923 (GRCm39) |
splice site |
probably null |
|
R7999:Dnaaf9
|
UTSW |
2 |
130,579,372 (GRCm39) |
missense |
probably benign |
0.00 |
R8047:Dnaaf9
|
UTSW |
2 |
130,617,019 (GRCm39) |
missense |
probably damaging |
0.98 |
R8286:Dnaaf9
|
UTSW |
2 |
130,559,248 (GRCm39) |
missense |
probably damaging |
1.00 |
R8315:Dnaaf9
|
UTSW |
2 |
130,612,655 (GRCm39) |
small deletion |
probably benign |
|
R8439:Dnaaf9
|
UTSW |
2 |
130,612,621 (GRCm39) |
missense |
probably damaging |
1.00 |
R8925:Dnaaf9
|
UTSW |
2 |
130,579,300 (GRCm39) |
nonsense |
probably null |
|
R8927:Dnaaf9
|
UTSW |
2 |
130,579,300 (GRCm39) |
nonsense |
probably null |
|
R9070:Dnaaf9
|
UTSW |
2 |
130,654,793 (GRCm39) |
missense |
possibly damaging |
0.61 |
R9367:Dnaaf9
|
UTSW |
2 |
130,581,380 (GRCm39) |
missense |
probably benign |
0.00 |
R9558:Dnaaf9
|
UTSW |
2 |
130,617,660 (GRCm39) |
missense |
probably damaging |
1.00 |
R9565:Dnaaf9
|
UTSW |
2 |
130,648,711 (GRCm39) |
missense |
unknown |
|
R9758:Dnaaf9
|
UTSW |
2 |
130,554,938 (GRCm39) |
missense |
probably damaging |
0.99 |
RF027:Dnaaf9
|
UTSW |
2 |
130,612,664 (GRCm39) |
small insertion |
probably benign |
|
RF038:Dnaaf9
|
UTSW |
2 |
130,612,664 (GRCm39) |
nonsense |
probably null |
|
RF046:Dnaaf9
|
UTSW |
2 |
130,612,654 (GRCm39) |
nonsense |
probably null |
|
RF048:Dnaaf9
|
UTSW |
2 |
130,612,654 (GRCm39) |
nonsense |
probably null |
|
Z1177:Dnaaf9
|
UTSW |
2 |
130,552,787 (GRCm39) |
missense |
probably benign |
0.04 |
|
Predicted Primers |
PCR Primer
(F):5'- GACAAGTCTGGCACCTCTCTTC -3'
(R):5'- TGTCAGTTGCAGGACGTGAG -3'
Sequencing Primer
(F):5'- CCGCATTGTTTGTTTTTACCGAAG -3'
(R):5'- AGTCTGAGTCTGTGGAATGTCTAC -3'
|
Posted On |
2019-06-26 |