Incidental Mutation 'R7193:Dnaaf9'
| ID |
559705 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dnaaf9
|
| Ensembl Gene |
ENSMUSG00000027309 |
| Gene Name |
dynein axonemal assembly factor 9 |
| Synonyms |
4930402H24Rik |
| MMRRC Submission |
045334-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7193 (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: 98.7%
|
| Validation Efficiency |
100% (60/60) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
A |
G |
12: 71,265,963 (GRCm39) |
|
probably null |
Het |
| Abca16 |
T |
C |
7: 120,026,409 (GRCm39) |
S124P |
probably damaging |
Het |
| Acan |
A |
T |
7: 78,736,090 (GRCm39) |
S179C |
probably damaging |
Het |
| Atg2b |
A |
C |
12: 105,630,967 (GRCm39) |
H319Q |
probably damaging |
Het |
| Bptf |
G |
A |
11: 106,945,635 (GRCm39) |
Q2535* |
probably null |
Het |
| Brpf3 |
T |
C |
17: 29,055,665 (GRCm39) |
*1205R |
probably null |
Het |
| Cabyr |
C |
A |
18: 12,884,815 (GRCm39) |
P434Q |
probably damaging |
Het |
| Cacna1g |
C |
A |
11: 94,300,057 (GRCm39) |
D2268Y |
possibly damaging |
Het |
| Ccng2 |
C |
G |
5: 93,421,202 (GRCm39) |
S237R |
probably benign |
Het |
| Cct4 |
A |
G |
11: 22,947,111 (GRCm39) |
T201A |
probably benign |
Het |
| Cdyl2 |
A |
C |
8: 117,350,733 (GRCm39) |
S133A |
probably benign |
Het |
| Cep76 |
A |
G |
18: 67,774,204 (GRCm39) |
L14P |
possibly damaging |
Het |
| Cert1 |
T |
A |
13: 96,767,341 (GRCm39) |
|
probably null |
Het |
| Crybg3 |
A |
T |
16: 59,379,956 (GRCm39) |
S433T |
possibly damaging |
Het |
| Cul9 |
T |
C |
17: 46,849,423 (GRCm39) |
K574R |
probably damaging |
Het |
| Cyp2u1 |
T |
C |
3: 131,084,792 (GRCm39) |
I527V |
probably benign |
Het |
| Eif4a3l1 |
A |
T |
6: 136,306,213 (GRCm39) |
I225F |
probably damaging |
Het |
| F5 |
A |
G |
1: 164,046,966 (GRCm39) |
N2142S |
probably damaging |
Het |
| Fam50b |
G |
A |
13: 34,931,084 (GRCm39) |
E187K |
possibly damaging |
Het |
| Flnc |
A |
G |
6: 29,450,870 (GRCm39) |
Y1506C |
probably damaging |
Het |
| Foxred2 |
T |
A |
15: 77,836,230 (GRCm39) |
S376C |
probably damaging |
Het |
| Gbe1 |
T |
C |
16: 70,292,258 (GRCm39) |
L530P |
probably damaging |
Het |
| Hmcn1 |
T |
C |
1: 150,525,331 (GRCm39) |
R3398G |
probably null |
Het |
| Igf1r |
T |
C |
7: 67,836,905 (GRCm39) |
L587P |
probably damaging |
Het |
| Ints15 |
A |
G |
5: 143,293,598 (GRCm39) |
V293A |
probably benign |
Het |
| Kcna3 |
T |
C |
3: 106,943,853 (GRCm39) |
Y39H |
probably benign |
Het |
| Krtap5-2 |
GCCACAGCCTCCCTTGCAACCCCCACAGGAGCCACAGCCCCCACAGGAACTACAGCCTCCCTTGCA |
GCTACAGCCTCCCTTGCA |
7: 141,728,980 (GRCm39) |
|
probably benign |
Het |
| Mbl1 |
T |
C |
14: 40,880,669 (GRCm39) |
F186L |
probably damaging |
Het |
| Ncam2 |
A |
T |
16: 81,386,683 (GRCm39) |
K687N |
probably damaging |
Het |
| Nedd4l |
T |
C |
18: 65,130,441 (GRCm39) |
V24A |
probably damaging |
Het |
| Nek1 |
A |
G |
8: 61,526,612 (GRCm39) |
E661G |
probably damaging |
Het |
| Nudt14 |
G |
T |
12: 112,902,940 (GRCm39) |
D28E |
probably benign |
Het |
| Or13n4 |
T |
C |
7: 106,423,798 (GRCm39) |
|
probably benign |
Het |
| Or1j15 |
T |
A |
2: 36,459,248 (GRCm39) |
C213S |
probably benign |
Het |
| Or2n1 |
T |
A |
17: 38,485,987 (GRCm39) |
I4N |
probably benign |
Het |
| Or4k47 |
A |
T |
2: 111,451,600 (GRCm39) |
V273E |
probably damaging |
Het |
| Pdk4 |
A |
T |
6: 5,487,089 (GRCm39) |
M319K |
probably benign |
Het |
| Pfkp |
T |
C |
13: 6,643,252 (GRCm39) |
N522S |
probably benign |
Het |
| Pias2 |
T |
C |
18: 77,207,817 (GRCm39) |
V234A |
possibly damaging |
Het |
| Pik3c2b |
C |
A |
1: 133,007,512 (GRCm39) |
H625Q |
probably benign |
Het |
| Pnpla7 |
T |
C |
2: 24,941,627 (GRCm39) |
S1117P |
probably damaging |
Het |
| Prdm2 |
A |
T |
4: 142,907,464 (GRCm39) |
V36D |
probably damaging |
Het |
| Prep |
C |
T |
10: 44,968,795 (GRCm39) |
R98C |
probably benign |
Het |
| Rae1 |
T |
C |
2: 172,850,110 (GRCm39) |
|
probably null |
Het |
| Rgs3 |
T |
A |
4: 62,533,573 (GRCm39) |
V138E |
probably damaging |
Het |
| Rnf185 |
T |
C |
11: 3,375,329 (GRCm39) |
T142A |
possibly damaging |
Het |
| Rsph6a |
C |
A |
7: 18,799,572 (GRCm39) |
P401Q |
probably damaging |
Het |
| Runx3 |
A |
T |
4: 134,848,456 (GRCm39) |
T14S |
probably benign |
Het |
| Scaf11 |
A |
G |
15: 96,317,042 (GRCm39) |
S841P |
probably damaging |
Het |
| Spta1 |
T |
A |
1: 174,012,178 (GRCm39) |
L328Q |
probably damaging |
Het |
| Sqor |
G |
A |
2: 122,645,929 (GRCm39) |
V318M |
probably damaging |
Het |
| Stox2 |
T |
C |
8: 47,639,489 (GRCm39) |
T902A |
probably benign |
Het |
| Susd3 |
T |
C |
13: 49,384,679 (GRCm39) |
H248R |
probably damaging |
Het |
| Syne1 |
T |
C |
10: 5,183,406 (GRCm39) |
Y4133C |
probably damaging |
Het |
| Tbc1d20 |
C |
T |
2: 152,153,337 (GRCm39) |
T289M |
probably benign |
Het |
| Unc80 |
T |
A |
1: 66,588,943 (GRCm39) |
F1036Y |
possibly damaging |
Het |
| Zbtb7c |
T |
C |
18: 76,271,009 (GRCm39) |
C366R |
probably damaging |
Het |
| Zeb1 |
A |
T |
18: 5,772,756 (GRCm39) |
D1015V |
probably damaging |
Het |
| Zfp606 |
T |
G |
7: 12,227,966 (GRCm39) |
S696A |
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 |
|
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 |
|
|
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'- TAGGACAAGTCTGGCACCTC -3'
(R):5'- TGTCAGTTGCAGGACGTGAG -3'
Sequencing Primer
(F):5'- GGACAAGTCTGGCACCTCTCTTC -3'
(R):5'- AGTCTGAGTCTGTGGAATGTCTAC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation