Incidental Mutation 'R9070:Dnaaf9'
| ID |
689477 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dnaaf9
|
| Ensembl Gene |
ENSMUSG00000027309 |
| Gene Name |
dynein axonemal assembly factor 9 |
| Synonyms |
4930402H24Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9070 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
130548120-130682565 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 130654793 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 159
(S159R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046992
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044766]
[ENSMUST00000110243]
[ENSMUST00000119422]
[ENSMUST00000120316]
[ENSMUST00000138990]
[ENSMUST00000146975]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000044766
AA Change: S159R
PolyPhen 2
Score 0.605 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000046992
Gene: ENSMUSG00000027309
AA Change: S159R
| 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 benign
Transcript: ENSMUST00000110243
AA Change: S159R
PolyPhen 2
Score 0.122 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000105872
Gene: ENSMUSG00000027309
AA Change: S159R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
134 |
145 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000119422
AA Change: S28R
PolyPhen 2
Score 0.605 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000113481
Gene: ENSMUSG00000027309
AA Change: S28R
| 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 |
possibly damaging
Transcript: ENSMUST00000120316
AA Change: S28R
PolyPhen 2
Score 0.605 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000112540
Gene: ENSMUSG00000027309
AA Change: S28R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
14 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000138990
AA Change: S28R
PolyPhen 2
Score 0.605 (Sensitivity: 0.87; Specificity: 0.91)
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000146975
AA Change: S24R
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (45/45) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy5 |
T |
C |
16: 35,100,770 (GRCm39) |
L774P |
probably damaging |
Het |
| Aldh2 |
T |
C |
5: 121,707,032 (GRCm39) |
E495G |
probably damaging |
Het |
| Als2cl |
T |
C |
9: 110,718,288 (GRCm39) |
V343A |
probably benign |
Het |
| Antxrl |
T |
A |
14: 33,793,671 (GRCm39) |
C466* |
probably null |
Het |
| Aoc1l3 |
A |
G |
6: 48,965,329 (GRCm39) |
N446D |
possibly damaging |
Het |
| Arc |
A |
G |
15: 74,543,833 (GRCm39) |
L130P |
probably damaging |
Het |
| Barhl1 |
C |
A |
2: 28,805,423 (GRCm39) |
R90L |
probably benign |
Het |
| Baz2a |
A |
G |
10: 127,958,931 (GRCm39) |
M1149V |
probably benign |
Het |
| Bsn |
G |
A |
9: 107,987,295 (GRCm39) |
S106L |
|
Het |
| Calu |
A |
G |
6: 29,356,567 (GRCm39) |
E31G |
probably benign |
Het |
| Cdh23 |
T |
G |
10: 60,173,539 (GRCm39) |
I1650L |
probably benign |
Het |
| Ceacam9 |
T |
C |
7: 16,457,787 (GRCm39) |
V100A |
possibly damaging |
Het |
| Dpyd |
T |
G |
3: 118,792,892 (GRCm39) |
I533S |
probably damaging |
Het |
| Fam184a |
T |
C |
10: 53,514,373 (GRCm39) |
D1016G |
possibly damaging |
Het |
| Fv1 |
T |
A |
4: 147,954,414 (GRCm39) |
W327R |
probably damaging |
Het |
| Gbp7 |
A |
G |
3: 142,249,762 (GRCm39) |
D411G |
probably benign |
Het |
| Gldc |
A |
T |
19: 30,080,404 (GRCm39) |
D885E |
probably damaging |
Het |
| H4c3 |
A |
G |
13: 23,882,170 (GRCm39) |
V88A |
probably damaging |
Het |
| Hdgfl2 |
T |
C |
17: 56,389,371 (GRCm39) |
W82R |
possibly damaging |
Het |
| Hif1an |
A |
G |
19: 44,551,458 (GRCm39) |
S48G |
probably benign |
Het |
| Itgal |
C |
T |
7: 126,927,873 (GRCm39) |
R1023W |
probably null |
Het |
| Kif13a |
C |
A |
13: 46,905,934 (GRCm39) |
A1618S |
probably benign |
Het |
| Lrrc57 |
A |
G |
2: 120,436,565 (GRCm39) |
L181P |
probably damaging |
Het |
| Mptx2 |
T |
A |
1: 173,102,119 (GRCm39) |
D190V |
probably benign |
Het |
| Mroh5 |
A |
G |
15: 73,656,688 (GRCm39) |
F590L |
probably damaging |
Het |
| Net1 |
A |
G |
13: 3,936,103 (GRCm39) |
I381T |
probably damaging |
Het |
| Nipbl |
T |
A |
15: 8,368,215 (GRCm39) |
K1169I |
possibly damaging |
Het |
| Nop9 |
G |
A |
14: 55,990,757 (GRCm39) |
R563H |
probably damaging |
Het |
| Obscn |
A |
T |
11: 59,013,457 (GRCm39) |
L1130Q |
probably damaging |
Het |
| Or1j13 |
A |
T |
2: 36,369,268 (GRCm39) |
S291R |
probably damaging |
Het |
| Or2b2b |
A |
T |
13: 21,858,985 (GRCm39) |
M43K |
probably benign |
Het |
| Pcgf1 |
T |
A |
6: 83,057,076 (GRCm39) |
H202Q |
probably damaging |
Het |
| Pcnx3 |
A |
G |
19: 5,715,601 (GRCm39) |
L1883P |
probably benign |
Het |
| Pde4b |
T |
C |
4: 102,458,994 (GRCm39) |
S505P |
probably damaging |
Het |
| Pitpnm2 |
C |
A |
5: 124,259,375 (GRCm39) |
R1320L |
probably damaging |
Het |
| Plscr4 |
C |
A |
9: 92,372,281 (GRCm39) |
|
probably benign |
Het |
| Pot1a |
C |
T |
6: 25,744,629 (GRCm39) |
R625Q |
|
Het |
| Pou4f1 |
A |
G |
14: 104,704,067 (GRCm39) |
S122P |
probably damaging |
Het |
| Ppl |
A |
G |
16: 4,907,208 (GRCm39) |
V1029A |
probably benign |
Het |
| Prex1 |
A |
G |
2: 166,427,707 (GRCm39) |
F982L |
probably damaging |
Het |
| Prr27 |
C |
A |
5: 87,990,994 (GRCm39) |
P202Q |
probably benign |
Het |
| Rbks |
A |
G |
5: 31,854,890 (GRCm39) |
V19A |
probably benign |
Het |
| Rps18-ps5 |
A |
G |
13: 28,441,902 (GRCm39) |
Y95C |
probably benign |
Het |
| Rps20 |
A |
T |
4: 3,835,280 (GRCm39) |
D5E |
probably benign |
Het |
| Sacs |
C |
A |
14: 61,447,751 (GRCm39) |
P3266T |
probably benign |
Het |
| Septin7 |
A |
G |
9: 25,175,507 (GRCm39) |
|
probably benign |
Het |
| Slc28a2b |
A |
G |
2: 122,352,154 (GRCm39) |
T331A |
probably damaging |
Het |
| Tasor |
T |
C |
14: 27,194,484 (GRCm39) |
V1228A |
probably benign |
Het |
| Trdv5 |
T |
C |
14: 54,386,258 (GRCm39) |
D69G |
probably damaging |
Het |
| Treml4 |
G |
T |
17: 48,576,781 (GRCm39) |
G180C |
probably 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 |
|
|
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 |
|
|
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'- TCCAAGCAAGCAACATTCTTTG -3'
(R):5'- ATTTAAGACAGTCCCTGAGGC -3'
Sequencing Primer
(F):5'- TATGCCTGCAACCAGTAGAG -3'
(R):5'- TCTATGAATTTGAGGCCAGCC -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation