Incidental Mutation 'R5931:Dnaaf9'
| ID |
461826 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dnaaf9
|
| Ensembl Gene |
ENSMUSG00000027309 |
| Gene Name |
dynein axonemal assembly factor 9 |
| Synonyms |
4930402H24Rik |
| MMRRC Submission |
044126-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5931 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
130548120-130682565 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 130656109 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 2
(T2M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113481
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044766]
[ENSMUST00000110243]
[ENSMUST00000119422]
[ENSMUST00000120316]
[ENSMUST00000138990]
[ENSMUST00000146975]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000044766
AA Change: T133M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000046992
Gene: ENSMUSG00000027309
AA Change: T133M
| 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: ENSMUST00000110243
AA Change: T133M
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000105872
Gene: ENSMUSG00000027309
AA Change: T133M
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
134 |
145 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000119422
AA Change: T2M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113481
Gene: ENSMUSG00000027309
AA Change: T2M
| 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 |
unknown
Transcript: ENSMUST00000120316
AA Change: T2M
|
| SMART Domains |
Protein: ENSMUSP00000112540
Gene: ENSMUSG00000027309
AA Change: T2M
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
14 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123049
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000138990
AA Change: T2M
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142128
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144014
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148924
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146975
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.4%
|
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930590J08Rik |
A |
T |
6: 91,896,096 (GRCm39) |
R315W |
probably damaging |
Het |
| Atrn |
A |
T |
2: 130,775,356 (GRCm39) |
Y153F |
possibly damaging |
Het |
| C4b |
A |
G |
17: 34,948,167 (GRCm39) |
V1644A |
probably damaging |
Het |
| Carmil3 |
A |
C |
14: 55,736,397 (GRCm39) |
K654T |
probably damaging |
Het |
| Cdh1 |
T |
C |
8: 107,392,964 (GRCm39) |
|
probably null |
Het |
| Chrna1 |
C |
T |
2: 73,398,444 (GRCm39) |
V332M |
probably benign |
Het |
| Clca3a2 |
A |
C |
3: 144,797,886 (GRCm39) |
V193G |
possibly damaging |
Het |
| Cyld |
A |
G |
8: 89,456,470 (GRCm39) |
|
probably null |
Het |
| Dbt |
A |
T |
3: 116,317,074 (GRCm39) |
E83D |
possibly damaging |
Het |
| Deup1 |
T |
C |
9: 15,472,618 (GRCm39) |
R471G |
possibly damaging |
Het |
| Dgcr2 |
T |
A |
16: 17,675,173 (GRCm39) |
I188F |
possibly damaging |
Het |
| Dgkg |
G |
A |
16: 22,376,788 (GRCm39) |
R524* |
probably null |
Het |
| Dnah5 |
A |
T |
15: 28,453,425 (GRCm39) |
R4399W |
probably damaging |
Het |
| Egflam |
G |
A |
15: 7,273,338 (GRCm39) |
T579I |
possibly damaging |
Het |
| Eif2b2 |
C |
T |
12: 85,269,561 (GRCm39) |
T211I |
probably damaging |
Het |
| Ep400 |
A |
G |
5: 110,883,386 (GRCm39) |
|
probably benign |
Het |
| Ermp1 |
C |
G |
19: 29,593,129 (GRCm39) |
A788P |
probably benign |
Het |
| Ern1 |
A |
G |
11: 106,317,699 (GRCm39) |
S142P |
possibly damaging |
Het |
| Fbxo15 |
T |
A |
18: 84,999,250 (GRCm39) |
C351S |
probably damaging |
Het |
| Fndc3a |
A |
T |
14: 72,806,307 (GRCm39) |
S444T |
probably benign |
Het |
| Gabra6 |
G |
A |
11: 42,198,268 (GRCm39) |
T384M |
probably benign |
Het |
| Gpbp1l1 |
T |
C |
4: 116,447,457 (GRCm39) |
V379A |
probably benign |
Het |
| Hook2 |
G |
T |
8: 85,722,375 (GRCm39) |
E305* |
probably null |
Het |
| Hoxa3 |
G |
A |
6: 52,149,568 (GRCm39) |
A21V |
probably damaging |
Het |
| Hs1bp3 |
C |
A |
12: 8,391,915 (GRCm39) |
P339Q |
probably benign |
Het |
| Igha |
T |
A |
12: 113,223,710 (GRCm39) |
T49S |
probably benign |
Het |
| Klra4 |
C |
T |
6: 130,030,016 (GRCm39) |
V190M |
possibly damaging |
Het |
| Lats2 |
A |
G |
14: 57,933,588 (GRCm39) |
L843P |
probably damaging |
Het |
| Lcmt1 |
A |
G |
7: 123,020,839 (GRCm39) |
T255A |
probably benign |
Het |
| Lpar6 |
A |
G |
14: 73,476,368 (GRCm39) |
I110V |
probably damaging |
Het |
| Lrrtm4 |
A |
G |
6: 79,998,722 (GRCm39) |
I44V |
probably damaging |
Het |
| Mcm3ap |
T |
C |
10: 76,307,000 (GRCm39) |
V371A |
probably benign |
Het |
| Muc20 |
A |
T |
16: 32,614,944 (GRCm39) |
D144E |
possibly damaging |
Het |
| Nphp3 |
T |
A |
9: 103,897,945 (GRCm39) |
D417E |
probably damaging |
Het |
| Or7g33 |
A |
T |
9: 19,448,629 (GRCm39) |
I199K |
probably benign |
Het |
| Or8b40 |
A |
G |
9: 38,027,670 (GRCm39) |
I193V |
probably benign |
Het |
| Paqr7 |
A |
C |
4: 134,235,031 (GRCm39) |
Y296S |
probably damaging |
Het |
| Pcdha4 |
A |
T |
18: 37,087,808 (GRCm39) |
T664S |
probably damaging |
Het |
| Pelo |
T |
A |
13: 115,225,379 (GRCm39) |
Y282F |
probably benign |
Het |
| Plxna2 |
A |
T |
1: 194,493,178 (GRCm39) |
I1818F |
probably damaging |
Het |
| Pnkd |
A |
G |
1: 74,389,833 (GRCm39) |
D319G |
probably benign |
Het |
| Pnma8a |
C |
A |
7: 16,694,809 (GRCm39) |
N221K |
probably benign |
Het |
| Ppp1cb |
T |
A |
5: 32,640,810 (GRCm39) |
|
probably null |
Het |
| Prkca |
T |
G |
11: 107,905,136 (GRCm39) |
I201L |
probably benign |
Het |
| Prp2rt |
A |
G |
13: 97,235,705 (GRCm39) |
L14S |
probably benign |
Het |
| Rfx2 |
G |
A |
17: 57,087,778 (GRCm39) |
R538C |
probably damaging |
Het |
| Rph3a |
T |
C |
5: 121,101,936 (GRCm39) |
Q100R |
probably damaging |
Het |
| Rtel1 |
C |
T |
2: 180,972,608 (GRCm39) |
R29* |
probably null |
Het |
| Scel |
T |
A |
14: 103,843,060 (GRCm39) |
Y547* |
probably null |
Het |
| Sp100 |
C |
T |
1: 85,606,804 (GRCm39) |
P303L |
probably damaging |
Het |
| Stk31 |
A |
G |
6: 49,446,236 (GRCm39) |
S958G |
probably benign |
Het |
| Syne2 |
T |
A |
12: 76,055,639 (GRCm39) |
V4168E |
probably benign |
Het |
| Tenm3 |
A |
T |
8: 49,099,533 (GRCm39) |
S91T |
probably benign |
Het |
| Tmcc2 |
TTGCTGCTGCTGCTGCTGC |
TTGCTGCTGCTGCTGC |
1: 132,285,493 (GRCm39) |
|
probably benign |
Het |
| Tmem248 |
T |
A |
5: 130,258,349 (GRCm39) |
I14N |
probably damaging |
Het |
| Tor3a |
T |
C |
1: 156,484,057 (GRCm39) |
I298V |
probably benign |
Het |
| Trim69 |
A |
T |
2: 122,009,075 (GRCm39) |
K378N |
probably damaging |
Het |
| Ttc28 |
C |
T |
5: 111,232,975 (GRCm39) |
P151S |
possibly damaging |
Het |
| Uaca |
T |
C |
9: 60,779,294 (GRCm39) |
V1225A |
probably damaging |
Het |
| Vps4b |
T |
C |
1: 106,705,065 (GRCm39) |
I343V |
probably benign |
Het |
| Wnk4 |
A |
G |
11: 101,152,047 (GRCm39) |
T184A |
probably damaging |
Het |
| Ythdc2 |
T |
A |
18: 45,006,023 (GRCm39) |
I1172K |
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 |
|
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'- TGTCTCCTTCAGGCAGACAAC -3'
(R):5'- AACTCTGACTTGCTTACTACAGTC -3'
Sequencing Primer
(F):5'- TTCAGGCAGACAACCCAACG -3'
(R):5'- CAGTGGAGTTACTAATTTCCCAAGC -3'
|
| Posted On |
2017-02-28 |
Incidental Mutation