Incidental Mutation 'R1485:Dnaaf9'
| ID |
163374 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dnaaf9
|
| Ensembl Gene |
ENSMUSG00000027309 |
| Gene Name |
dynein axonemal assembly factor 9 |
| Synonyms |
4930402H24Rik |
| MMRRC Submission |
039538-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1485 (G1)
|
| Quality Score |
211 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
130548120-130682565 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 130590603 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044766]
[ENSMUST00000119422]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
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 |
probably null
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 |
noncoding transcript
Transcript: ENSMUST00000133132
|
| Predicted Effect |
probably null
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 |
probably null
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: ENSMUST00000148924
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.1%
- 20x: 92.5%
|
| Validation Efficiency |
|
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
A |
G |
13: 81,727,738 (GRCm39) |
S301P |
probably damaging |
Het |
| AI987944 |
C |
A |
7: 41,023,954 (GRCm39) |
G342* |
probably null |
Het |
| Alox5 |
A |
T |
6: 116,401,125 (GRCm39) |
F212I |
probably damaging |
Het |
| Apaf1 |
A |
T |
10: 90,896,105 (GRCm39) |
D322E |
probably benign |
Het |
| Aste1 |
T |
A |
9: 105,275,009 (GRCm39) |
Y355* |
probably null |
Het |
| Bloc1s6 |
T |
G |
2: 122,588,063 (GRCm39) |
|
probably null |
Het |
| Bltp2 |
A |
G |
11: 78,176,406 (GRCm39) |
Y1836C |
probably damaging |
Het |
| Castor2 |
T |
A |
5: 134,165,972 (GRCm39) |
L240Q |
probably damaging |
Het |
| Ccdc77 |
G |
A |
6: 120,315,101 (GRCm39) |
Q183* |
probably null |
Het |
| Ccdc92 |
T |
C |
5: 124,913,335 (GRCm39) |
T65A |
probably benign |
Het |
| Chrna2 |
C |
T |
14: 66,380,812 (GRCm39) |
A27V |
probably benign |
Het |
| Coch |
G |
T |
12: 51,645,072 (GRCm39) |
V209F |
probably damaging |
Het |
| Cops3 |
G |
A |
11: 59,718,715 (GRCm39) |
T193M |
possibly damaging |
Het |
| Cped1 |
T |
C |
6: 22,132,387 (GRCm39) |
|
probably null |
Het |
| D6Ertd527e |
A |
T |
6: 87,088,067 (GRCm39) |
S77C |
unknown |
Het |
| Defb7 |
A |
G |
8: 19,545,110 (GRCm39) |
|
probably null |
Het |
| Entpd6 |
T |
A |
2: 150,610,843 (GRCm39) |
|
probably null |
Het |
| Evc2 |
C |
T |
5: 37,527,900 (GRCm39) |
A303V |
probably benign |
Het |
| Fhod1 |
T |
C |
8: 106,063,430 (GRCm39) |
|
probably null |
Het |
| Gcn1 |
T |
A |
5: 115,712,676 (GRCm39) |
F54I |
probably benign |
Het |
| Gm7104 |
C |
A |
12: 88,252,333 (GRCm39) |
|
noncoding transcript |
Het |
| Grid1 |
A |
T |
14: 34,544,540 (GRCm39) |
D37V |
probably damaging |
Het |
| Icam5 |
G |
A |
9: 20,947,702 (GRCm39) |
A560T |
probably benign |
Het |
| Igf2r |
A |
C |
17: 12,910,172 (GRCm39) |
I2019S |
probably damaging |
Het |
| Kcnj9 |
A |
G |
1: 172,153,929 (GRCm39) |
V65A |
probably benign |
Het |
| Kif3b |
T |
C |
2: 153,164,851 (GRCm39) |
|
probably null |
Het |
| Kmt2a |
T |
G |
9: 44,738,225 (GRCm39) |
|
probably benign |
Het |
| Marchf6 |
T |
A |
15: 31,498,839 (GRCm39) |
T153S |
probably damaging |
Het |
| Mcam |
T |
A |
9: 44,048,060 (GRCm39) |
I72N |
probably damaging |
Het |
| Ncoa4-ps |
A |
G |
12: 119,224,785 (GRCm39) |
|
noncoding transcript |
Het |
| Nkain3 |
T |
C |
4: 20,484,932 (GRCm39) |
I48M |
probably damaging |
Het |
| Nop58 |
T |
A |
1: 59,737,504 (GRCm39) |
I107N |
probably damaging |
Het |
| Notch2 |
A |
G |
3: 98,007,573 (GRCm39) |
H441R |
probably benign |
Het |
| Nr1d1 |
G |
A |
11: 98,661,187 (GRCm39) |
R360C |
probably benign |
Het |
| Or56a5 |
A |
G |
7: 104,792,888 (GRCm39) |
I210T |
probably benign |
Het |
| Pclo |
T |
C |
5: 14,763,793 (GRCm39) |
S4089P |
unknown |
Het |
| Pi4kb |
A |
G |
3: 94,901,698 (GRCm39) |
E455G |
probably damaging |
Het |
| Piezo1 |
T |
C |
8: 123,208,788 (GRCm39) |
Y2525C |
probably damaging |
Het |
| Pik3c2a |
A |
G |
7: 116,016,908 (GRCm39) |
V283A |
possibly damaging |
Het |
| Pramel12 |
G |
A |
4: 143,144,188 (GRCm39) |
R178Q |
probably benign |
Het |
| Rabgap1l |
A |
T |
1: 160,561,250 (GRCm39) |
V161E |
probably benign |
Het |
| Rasa2 |
A |
G |
9: 96,426,401 (GRCm39) |
I815T |
probably benign |
Het |
| Rev1 |
A |
T |
1: 38,127,653 (GRCm39) |
D202E |
probably benign |
Het |
| Septin14 |
C |
T |
5: 129,770,118 (GRCm39) |
A193T |
probably damaging |
Het |
| Sh3tc1 |
T |
C |
5: 35,876,370 (GRCm39) |
S112G |
probably benign |
Het |
| Siah3 |
T |
A |
14: 75,762,994 (GRCm39) |
Y82N |
probably benign |
Het |
| Slc2a7 |
T |
C |
4: 150,250,853 (GRCm39) |
S425P |
probably damaging |
Het |
| Slc9a2 |
C |
T |
1: 40,765,548 (GRCm39) |
L313F |
probably damaging |
Het |
| Smdt1 |
T |
C |
15: 82,230,433 (GRCm39) |
V50A |
probably benign |
Het |
| Spata31e2 |
T |
G |
1: 26,724,961 (GRCm39) |
K73T |
possibly damaging |
Het |
| Supt3 |
G |
A |
17: 45,347,607 (GRCm39) |
A197T |
probably benign |
Het |
| Tex10 |
A |
G |
4: 48,436,492 (GRCm39) |
I742T |
possibly damaging |
Het |
| Tex44 |
T |
A |
1: 86,355,640 (GRCm39) |
H516Q |
possibly damaging |
Het |
| Tfdp1 |
T |
G |
8: 13,420,917 (GRCm39) |
D171E |
probably damaging |
Het |
| Trim31 |
A |
C |
17: 37,209,568 (GRCm39) |
D108A |
probably damaging |
Het |
| Ubr1 |
T |
C |
2: 120,791,579 (GRCm39) |
N135S |
probably benign |
Het |
| Uso1 |
G |
A |
5: 92,328,422 (GRCm39) |
V340I |
possibly damaging |
Het |
| Utp6 |
A |
C |
11: 79,839,749 (GRCm39) |
V313G |
probably damaging |
Het |
| Vmn2r107 |
T |
C |
17: 20,595,109 (GRCm39) |
V554A |
possibly damaging |
Het |
| Xdh |
C |
A |
17: 74,221,014 (GRCm39) |
E572* |
probably null |
Het |
| Zbtb7c |
T |
C |
18: 76,270,061 (GRCm39) |
S50P |
probably damaging |
Het |
| Zfp672 |
A |
G |
11: 58,220,395 (GRCm39) |
|
probably benign |
Het |
| Zzef1 |
A |
G |
11: 72,791,635 (GRCm39) |
|
probably null |
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 |
|
|
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 |
|
|
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'- TGCGGCACTAAGAGAGACCACATAG -3'
(R):5'- AAGACTCTAGCCCACGGATGTAGC -3'
Sequencing Primer
(F):5'- CTAAGGGATATGTTAGAGCCCCATC -3'
(R):5'- TTTCTCACCGTCATCACGGAAG -3'
|
| Posted On |
2014-03-28 |
Incidental Mutation