Incidental Mutation 'R3907:Dnaaf9'
ID |
310233 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dnaaf9
|
Ensembl Gene |
ENSMUSG00000027309 |
Gene Name |
dynein axonemal assembly factor 9 |
Synonyms |
4930402H24Rik |
MMRRC Submission |
040908-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3907 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
130548120-130682565 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 130578496 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Threonine
at position 663
(A663T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113481
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044766]
[ENSMUST00000119422]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000044766
AA Change: A794T
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000046992 Gene: ENSMUSG00000027309 AA Change: A794T
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 |
probably damaging
Transcript: ENSMUST00000119422
AA Change: A663T
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000113481 Gene: ENSMUSG00000027309 AA Change: A663T
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 |
noncoding transcript
Transcript: ENSMUST00000133132
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000145851
|
SMART Domains |
Protein: ENSMUSP00000118946 Gene: ENSMUSG00000027309
Domain | Start | End | E-Value | Type |
low complexity region
|
6 |
16 |
N/A |
INTRINSIC |
low complexity region
|
76 |
88 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151673
|
Meta Mutation Damage Score |
0.1510 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.5%
|
Validation Efficiency |
97% (56/58) |
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: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts3 |
C |
A |
5: 90,009,214 (GRCm39) |
G150C |
probably damaging |
Het |
Ampd3 |
A |
G |
7: 110,392,877 (GRCm39) |
D215G |
possibly damaging |
Het |
Ank2 |
A |
G |
3: 126,810,547 (GRCm39) |
L513P |
probably damaging |
Het |
Apba1 |
T |
C |
19: 23,914,870 (GRCm39) |
I690T |
probably damaging |
Het |
Arid1a |
T |
C |
4: 133,420,223 (GRCm39) |
|
probably benign |
Het |
Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
Asns |
C |
T |
6: 7,682,270 (GRCm39) |
|
probably null |
Het |
Aspg |
T |
A |
12: 112,078,693 (GRCm39) |
Y57* |
probably null |
Het |
Asph |
T |
C |
4: 9,474,934 (GRCm39) |
K680R |
probably benign |
Het |
Atp2b4 |
A |
T |
1: 133,666,324 (GRCm39) |
S243T |
probably damaging |
Het |
Cacna1s |
T |
A |
1: 136,012,007 (GRCm39) |
M483K |
probably damaging |
Het |
Car4 |
G |
A |
11: 84,855,183 (GRCm39) |
V141M |
probably damaging |
Het |
Cct4 |
A |
G |
11: 22,951,560 (GRCm39) |
I376V |
probably benign |
Het |
Chrm4 |
C |
T |
2: 91,758,084 (GRCm39) |
A164V |
probably damaging |
Het |
Csf3r |
A |
T |
4: 125,928,240 (GRCm39) |
D291V |
probably benign |
Het |
Dcaf6 |
A |
T |
1: 165,251,949 (GRCm39) |
C58* |
probably null |
Het |
Ddi2 |
T |
C |
4: 141,411,592 (GRCm39) |
D440G |
probably benign |
Het |
Defb4 |
A |
T |
8: 19,251,277 (GRCm39) |
Q48L |
possibly damaging |
Het |
Duox2 |
C |
T |
2: 122,113,541 (GRCm39) |
|
probably null |
Het |
E130308A19Rik |
C |
T |
4: 59,752,393 (GRCm39) |
T502I |
probably benign |
Het |
Ephb1 |
A |
G |
9: 101,878,925 (GRCm39) |
C522R |
probably benign |
Het |
Fam76a |
T |
C |
4: 132,643,432 (GRCm39) |
K101E |
probably damaging |
Het |
Fat1 |
G |
C |
8: 45,476,072 (GRCm39) |
R1706T |
probably benign |
Het |
Fn1 |
C |
T |
1: 71,647,072 (GRCm39) |
G1482R |
probably damaging |
Het |
Gm10110 |
T |
C |
14: 90,135,583 (GRCm39) |
|
noncoding transcript |
Het |
Gphn |
T |
A |
12: 78,540,716 (GRCm39) |
|
probably benign |
Het |
Hars1 |
A |
T |
18: 36,915,769 (GRCm39) |
D48E |
probably benign |
Het |
Hmgcll1 |
G |
A |
9: 75,979,943 (GRCm39) |
R111H |
probably benign |
Het |
Ighv3-4 |
A |
G |
12: 114,217,538 (GRCm39) |
S18P |
probably damaging |
Het |
Iws1 |
G |
A |
18: 32,212,973 (GRCm39) |
E134K |
possibly damaging |
Het |
Kcnj4 |
G |
T |
15: 79,369,946 (GRCm39) |
H11Q |
probably benign |
Het |
Krt16 |
A |
G |
11: 100,137,989 (GRCm39) |
V329A |
possibly damaging |
Het |
Loxhd1 |
A |
T |
18: 77,496,464 (GRCm39) |
M1575L |
possibly damaging |
Het |
Mapkapk2 |
A |
T |
1: 130,984,651 (GRCm39) |
S234T |
probably damaging |
Het |
Mxd1 |
G |
T |
6: 86,627,942 (GRCm39) |
Q199K |
probably benign |
Het |
Nlrp5 |
T |
A |
7: 23,133,071 (GRCm39) |
D905E |
possibly damaging |
Het |
Or4c117 |
A |
C |
2: 88,955,927 (GRCm39) |
Y49* |
probably null |
Het |
Or6z7 |
A |
T |
7: 6,483,678 (GRCm39) |
V159D |
probably damaging |
Het |
Otoa |
A |
T |
7: 120,724,788 (GRCm39) |
Q489L |
probably damaging |
Het |
Pced1b |
T |
C |
15: 97,282,431 (GRCm39) |
S157P |
probably damaging |
Het |
Ppp1r16b |
T |
C |
2: 158,603,410 (GRCm39) |
I345T |
probably benign |
Het |
Prrt4 |
G |
T |
6: 29,177,173 (GRCm39) |
L199M |
probably damaging |
Het |
Ptpn6 |
T |
C |
6: 124,702,239 (GRCm39) |
D347G |
possibly damaging |
Het |
Pwwp3a |
T |
C |
10: 80,074,150 (GRCm39) |
V401A |
probably damaging |
Het |
Rcan1 |
A |
G |
16: 92,262,917 (GRCm39) |
|
probably benign |
Het |
Rif1 |
C |
T |
2: 52,002,557 (GRCm39) |
L2004F |
probably benign |
Het |
Rnf185 |
A |
G |
11: 3,376,681 (GRCm39) |
|
probably benign |
Het |
Shank2 |
C |
T |
7: 143,963,313 (GRCm39) |
P307L |
probably damaging |
Het |
Slc19a3 |
G |
A |
1: 82,992,534 (GRCm39) |
R396C |
possibly damaging |
Het |
Stn1 |
T |
C |
19: 47,496,262 (GRCm39) |
D321G |
probably damaging |
Het |
Taar7a |
T |
C |
10: 23,868,457 (GRCm39) |
Y308C |
probably benign |
Het |
Tespa1 |
T |
C |
10: 130,192,666 (GRCm39) |
|
probably benign |
Het |
Tmcc2 |
T |
C |
1: 132,288,376 (GRCm39) |
D359G |
probably damaging |
Het |
Trhde |
C |
T |
10: 114,636,601 (GRCm39) |
G202E |
possibly damaging |
Het |
Trip12 |
T |
C |
1: 84,709,827 (GRCm39) |
T469A |
possibly damaging |
Het |
Trip4 |
A |
G |
9: 65,740,708 (GRCm39) |
I533T |
probably benign |
Het |
Tsc22d1 |
T |
C |
14: 76,653,983 (GRCm39) |
I154T |
probably damaging |
Het |
Ttn |
C |
A |
2: 76,733,686 (GRCm39) |
|
probably benign |
Het |
Ugt8a |
T |
C |
3: 125,708,631 (GRCm39) |
T160A |
possibly damaging |
Het |
Usp54 |
A |
T |
14: 20,636,181 (GRCm39) |
S288T |
probably damaging |
Het |
Utrn |
C |
T |
10: 12,585,926 (GRCm39) |
|
probably benign |
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 |
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 |
|
R7233: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'- AGCATCCTGGTCTTTCTGAGG -3'
(R):5'- GTCCCACAGTAGCTCTCTCCATAG -3'
Sequencing Primer
(F):5'- TGTCCATAGCATTAGGGCAC -3'
(R):5'- TCCATAGTCATTGGCAGCATG -3'
|
Posted On |
2015-04-17 |