Incidental Mutation 'R8315:Dnaaf9'
| ID |
641613 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dnaaf9
|
| Ensembl Gene |
ENSMUSG00000027309 |
| Gene Name |
dynein axonemal assembly factor 9 |
| Synonyms |
4930402H24Rik |
| MMRRC Submission |
067720-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8315 (G1)
|
| Quality Score |
106.467 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
130548120-130682565 bp(-) (GRCm39) |
| Type of Mutation |
small deletion (1 aa in frame mutation) |
| DNA Base Change (assembly) |
ATCCTCCTCCTCCTCCTCC to ATCCTCCTCCTCCTCC
at 130612655 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 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 |
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: 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| 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 |
|---|
| Abca13 |
A |
T |
11: 9,328,460 (GRCm39) |
E3511V |
probably null |
Het |
| Abca13 |
A |
G |
11: 9,535,502 (GRCm39) |
T4709A |
probably benign |
Het |
| Aff1 |
G |
T |
5: 103,958,956 (GRCm39) |
V342F |
probably damaging |
Het |
| Ahnak2 |
T |
A |
12: 112,745,756 (GRCm39) |
Q1698L |
|
Het |
| Ajap1 |
G |
T |
4: 153,516,813 (GRCm39) |
T176K |
probably damaging |
Het |
| Alkal2 |
G |
T |
12: 30,934,850 (GRCm39) |
G23V |
probably damaging |
Het |
| Cct3 |
A |
G |
3: 88,220,564 (GRCm39) |
T259A |
probably benign |
Het |
| Cdk8 |
C |
T |
5: 146,205,061 (GRCm39) |
L21F |
probably damaging |
Het |
| Cimip4 |
T |
C |
15: 78,262,686 (GRCm39) |
R262G |
probably benign |
Het |
| Csf2rb |
G |
A |
15: 78,231,581 (GRCm39) |
G494D |
possibly damaging |
Het |
| Cstf3 |
G |
T |
2: 104,420,926 (GRCm39) |
|
probably benign |
Het |
| Cyp4f39 |
A |
G |
17: 32,701,176 (GRCm39) |
D222G |
probably benign |
Het |
| Dcp2 |
T |
C |
18: 44,529,071 (GRCm39) |
I62T |
probably benign |
Het |
| Dpp8 |
T |
C |
9: 64,988,133 (GRCm39) |
*893Q |
probably null |
Het |
| Dpyd |
A |
T |
3: 119,108,534 (GRCm39) |
H859L |
probably benign |
Het |
| Dst |
T |
C |
1: 34,323,501 (GRCm39) |
|
probably null |
Het |
| Dynlt2a2 |
A |
G |
17: 15,190,717 (GRCm39) |
Y81H |
probably damaging |
Het |
| Egfr |
A |
G |
11: 16,825,027 (GRCm39) |
I456V |
probably benign |
Het |
| Elf3 |
A |
G |
1: 135,184,314 (GRCm39) |
F185L |
probably benign |
Het |
| Emx1 |
A |
G |
6: 85,171,088 (GRCm39) |
T164A |
possibly damaging |
Het |
| Fras1 |
G |
A |
5: 96,891,041 (GRCm39) |
V2857M |
probably damaging |
Het |
| Gba2 |
AAAGAACCGTGTATACCGCCTGGGATGGAAAGAA |
AAA |
4: 43,569,937 (GRCm39) |
|
probably null |
Het |
| Gda |
T |
A |
19: 21,394,435 (GRCm39) |
T215S |
probably benign |
Het |
| Gm14443 |
C |
T |
2: 175,013,640 (GRCm39) |
|
probably null |
Het |
| Gpr152 |
C |
T |
19: 4,193,469 (GRCm39) |
P337S |
probably damaging |
Het |
| H2-T10 |
A |
G |
17: 36,429,905 (GRCm39) |
I296T |
probably benign |
Het |
| Hoxd11 |
G |
A |
2: 74,513,466 (GRCm39) |
E244K |
probably benign |
Het |
| Inka1 |
C |
A |
9: 107,861,506 (GRCm39) |
S270I |
probably damaging |
Het |
| Kazn |
C |
T |
4: 141,869,002 (GRCm39) |
D325N |
|
Het |
| Lama2 |
T |
C |
10: 27,298,655 (GRCm39) |
N147S |
probably damaging |
Het |
| Lamc1 |
A |
T |
1: 153,119,167 (GRCm39) |
N817K |
probably benign |
Het |
| Met |
T |
C |
6: 17,533,956 (GRCm39) |
S636P |
probably damaging |
Het |
| Mrgpra3 |
A |
T |
7: 47,251,051 (GRCm39) |
M1K |
probably null |
Het |
| Myh15 |
C |
A |
16: 48,940,381 (GRCm39) |
T777N |
probably damaging |
Het |
| Or10ag2 |
C |
A |
2: 87,248,995 (GRCm39) |
A201D |
probably damaging |
Het |
| Or6c209 |
G |
A |
10: 129,483,522 (GRCm39) |
C175Y |
probably benign |
Het |
| Or8c13 |
T |
C |
9: 38,091,505 (GRCm39) |
T205A |
probably benign |
Het |
| Pbx2 |
A |
G |
17: 34,811,707 (GRCm39) |
I60M |
probably damaging |
Het |
| Phf8-ps |
C |
A |
17: 33,286,038 (GRCm39) |
A255S |
probably benign |
Het |
| Pla2g4a |
T |
C |
1: 149,761,965 (GRCm39) |
N164S |
probably benign |
Het |
| Poln |
A |
G |
5: 34,266,717 (GRCm39) |
M480T |
probably benign |
Het |
| Ppp2r2a |
T |
C |
14: 67,261,177 (GRCm39) |
N181S |
probably damaging |
Het |
| Ppp3r2 |
A |
C |
4: 49,681,705 (GRCm39) |
F82V |
probably damaging |
Het |
| Prox2 |
A |
G |
12: 85,142,182 (GRCm39) |
V7A |
probably benign |
Het |
| Ptpn3 |
A |
T |
4: 57,270,063 (GRCm39) |
I33K |
possibly damaging |
Het |
| Rad21l |
A |
T |
2: 151,497,160 (GRCm39) |
M318K |
probably benign |
Het |
| Rftn1 |
A |
G |
17: 50,309,665 (GRCm39) |
S445P |
possibly damaging |
Het |
| Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,130 (GRCm39) |
|
probably benign |
Het |
| Rtp4 |
C |
T |
16: 23,431,998 (GRCm39) |
P177S |
possibly damaging |
Het |
| Saa4 |
T |
A |
7: 46,379,052 (GRCm39) |
N96I |
possibly damaging |
Het |
| Shb |
A |
G |
4: 45,489,079 (GRCm39) |
Y266H |
probably damaging |
Het |
| Slc45a4 |
T |
G |
15: 73,461,405 (GRCm39) |
Y88S |
probably damaging |
Het |
| Tbccd1 |
A |
G |
16: 22,641,564 (GRCm39) |
M312T |
probably damaging |
Het |
| Tecta |
C |
T |
9: 42,299,121 (GRCm39) |
|
probably null |
Het |
| Tle1 |
A |
T |
4: 72,044,428 (GRCm39) |
C526* |
probably null |
Het |
| Tmem87a |
C |
T |
2: 120,234,441 (GRCm39) |
G34D |
probably damaging |
Het |
| Trav13d-1 |
C |
A |
14: 53,089,059 (GRCm39) |
Q23K |
probably benign |
Het |
| Txndc11 |
G |
T |
16: 10,893,465 (GRCm39) |
T755N |
possibly damaging |
Het |
| Vmn1r223 |
A |
G |
13: 23,434,339 (GRCm39) |
D311G |
probably damaging |
Het |
| Vmn2r66 |
T |
A |
7: 84,643,932 (GRCm39) |
Y826F |
possibly damaging |
Het |
| Wdr90 |
A |
T |
17: 26,064,399 (GRCm39) |
M1824K |
probably benign |
Het |
| Zfp523 |
G |
A |
17: 28,421,562 (GRCm39) |
G440D |
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 |
|
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 |
|
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'- AATGTATTAATCAGTTGGCTGGCTG -3'
(R):5'- ATCCATCACCTGTTGGAAAGTC -3'
Sequencing Primer
(F):5'- AATCAGTTGGCTGGCTGTCATC -3'
(R):5'- GAGGCACCTTCCAGTTCAAAGTG -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation