Incidental Mutation 'R7053:Dnai2'
| ID |
547728 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dnai2
|
| Ensembl Gene |
ENSMUSG00000034706 |
| Gene Name |
dynein axonemal intermediate chain 2 |
| Synonyms |
C030015H18Rik, b2b3405Clo, Dnaic2 |
| MMRRC Submission |
045150-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.230)
|
| Stock # |
R7053 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
114618234-114648715 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 114629521 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 183
(S183P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000090126
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069325]
[ENSMUST00000092469]
[ENSMUST00000141762]
|
| AlphaFold |
A2AC93 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000069325
AA Change: S183P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000065787
Gene: ENSMUSG00000034706
AA Change: S183P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
127 |
146 |
N/A |
INTRINSIC |
|
WD40
|
206 |
245 |
2.86e0 |
SMART |
|
WD40
|
248 |
293 |
3.33e-1 |
SMART |
|
WD40
|
353 |
392 |
7.92e-3 |
SMART |
|
WD40
|
396 |
436 |
2.05e1 |
SMART |
|
WD40
|
441 |
480 |
4.93e1 |
SMART |
|
low complexity region
|
519 |
545 |
N/A |
INTRINSIC |
|
low complexity region
|
559 |
608 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000092469
AA Change: S183P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000090126
Gene: ENSMUSG00000034706
AA Change: S183P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
127 |
146 |
N/A |
INTRINSIC |
|
WD40
|
206 |
245 |
2.86e0 |
SMART |
|
WD40
|
248 |
293 |
3.33e-1 |
SMART |
|
WD40
|
353 |
392 |
7.92e-3 |
SMART |
|
WD40
|
396 |
436 |
2.05e1 |
SMART |
|
WD40
|
441 |
480 |
4.93e1 |
SMART |
|
low complexity region
|
519 |
545 |
N/A |
INTRINSIC |
|
low complexity region
|
559 |
608 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000141762
AA Change: S183P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000114700
Gene: ENSMUSG00000034706
AA Change: S183P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
127 |
146 |
N/A |
INTRINSIC |
|
WD40
|
206 |
245 |
2.86e0 |
SMART |
|
WD40
|
248 |
293 |
3.33e-1 |
SMART |
|
WD40
|
353 |
392 |
7.92e-3 |
SMART |
|
WD40
|
396 |
436 |
2.05e1 |
SMART |
|
low complexity region
|
458 |
476 |
N/A |
INTRINSIC |
|
low complexity region
|
507 |
533 |
N/A |
INTRINSIC |
|
low complexity region
|
548 |
562 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the dynein intermediate chain family, and is part of the dynein complex of respiratory cilia and sperm flagella. Mutations in this gene are associated with primary ciliary dyskinesia type 9. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Mar 2010]
PHENOTYPE: Mice homozygous for an ENU-induced mutation exhibit situs inversus totalis and immotile respiratory cilia. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam26a |
A |
T |
8: 44,021,836 (GRCm39) |
C551* |
probably null |
Het |
| Aldh1l1 |
C |
A |
6: 90,540,420 (GRCm39) |
T235K |
possibly damaging |
Het |
| Atp6v0a2 |
A |
G |
5: 124,783,923 (GRCm39) |
E257G |
probably damaging |
Het |
| AW146154 |
A |
G |
7: 41,131,988 (GRCm39) |
|
probably null |
Het |
| BC048507 |
T |
C |
13: 68,011,772 (GRCm39) |
Y50H |
probably benign |
Het |
| Brip1 |
T |
C |
11: 86,083,791 (GRCm39) |
N77D |
possibly damaging |
Het |
| Ccdc13 |
T |
C |
9: 121,662,904 (GRCm39) |
E37G |
probably damaging |
Het |
| Ccn6 |
A |
G |
10: 39,034,297 (GRCm39) |
Y102H |
probably damaging |
Het |
| Col27a1 |
T |
A |
4: 63,251,404 (GRCm39) |
|
probably benign |
Het |
| Corin |
T |
A |
5: 72,458,870 (GRCm39) |
I960L |
probably benign |
Het |
| Csnk2b |
A |
G |
17: 35,335,422 (GRCm39) |
|
probably benign |
Het |
| Cyp2d26 |
T |
C |
15: 82,676,801 (GRCm39) |
S182G |
probably benign |
Het |
| Dennd1a |
A |
G |
2: 37,851,666 (GRCm39) |
L74P |
probably damaging |
Het |
| Dip2c |
A |
G |
13: 9,660,740 (GRCm39) |
D838G |
probably damaging |
Het |
| Dkkl1 |
G |
T |
7: 44,857,022 (GRCm39) |
Q182K |
probably damaging |
Het |
| Dnhd1 |
T |
C |
7: 105,344,161 (GRCm39) |
L1835P |
probably damaging |
Het |
| Espl1 |
T |
C |
15: 102,225,328 (GRCm39) |
|
probably null |
Het |
| Fam174a |
C |
T |
1: 95,252,953 (GRCm39) |
A185V |
probably damaging |
Het |
| Fhip1b |
C |
T |
7: 105,033,779 (GRCm39) |
G479D |
probably damaging |
Het |
| Gm40460 |
CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
7: 141,794,554 (GRCm39) |
|
probably benign |
Het |
| Grid2 |
G |
T |
6: 64,677,402 (GRCm39) |
A74S |
unknown |
Het |
| Gsdma3 |
T |
A |
11: 98,520,621 (GRCm39) |
M84K |
possibly damaging |
Het |
| Hlcs |
A |
T |
16: 94,068,874 (GRCm39) |
S262R |
possibly damaging |
Het |
| Lrp1 |
A |
G |
10: 127,376,963 (GRCm39) |
C4205R |
probably damaging |
Het |
| Mdc1 |
C |
T |
17: 36,157,218 (GRCm39) |
A181V |
probably benign |
Het |
| Mdga2 |
T |
A |
12: 66,736,158 (GRCm39) |
I357F |
probably benign |
Het |
| Mfn1 |
A |
G |
3: 32,586,114 (GRCm39) |
I21V |
probably benign |
Het |
| Mgat4b |
C |
T |
11: 50,124,367 (GRCm39) |
T409M |
probably damaging |
Het |
| Mgat4d |
G |
T |
8: 84,098,261 (GRCm39) |
K341N |
probably damaging |
Het |
| Mpo |
A |
T |
11: 87,694,336 (GRCm39) |
N109Y |
probably damaging |
Het |
| Mvp |
T |
C |
7: 126,586,776 (GRCm39) |
Q785R |
possibly damaging |
Het |
| Nim1k |
A |
G |
13: 120,189,145 (GRCm39) |
V88A |
probably damaging |
Het |
| Oasl2 |
A |
T |
5: 115,049,291 (GRCm39) |
I464L |
possibly damaging |
Het |
| Or5m11b |
G |
T |
2: 85,806,358 (GRCm39) |
C257F |
possibly damaging |
Het |
| Pkd1l2 |
A |
G |
8: 117,740,681 (GRCm39) |
F2139L |
probably damaging |
Het |
| Pop1 |
T |
G |
15: 34,530,421 (GRCm39) |
S940A |
probably benign |
Het |
| Ppp1r9a |
T |
A |
6: 4,905,670 (GRCm39) |
M75K |
probably damaging |
Het |
| Prdm15 |
G |
A |
16: 97,595,742 (GRCm39) |
Q1029* |
probably null |
Het |
| Rffl |
T |
C |
11: 82,703,497 (GRCm39) |
K142R |
probably null |
Het |
| Rhou |
A |
G |
8: 124,380,934 (GRCm39) |
|
probably benign |
Het |
| Rp1l1 |
A |
T |
14: 64,268,958 (GRCm39) |
T1515S |
possibly damaging |
Het |
| Serpina1b |
T |
A |
12: 103,698,688 (GRCm39) |
S54C |
possibly damaging |
Het |
| Slc30a2 |
G |
A |
4: 134,074,726 (GRCm39) |
R161Q |
probably damaging |
Het |
| Taok3 |
T |
A |
5: 117,390,627 (GRCm39) |
D529E |
probably benign |
Het |
| Tmem18 |
T |
A |
12: 30,634,506 (GRCm39) |
M1K |
probably null |
Het |
| Tmem269 |
T |
A |
4: 119,066,464 (GRCm39) |
H198L |
probably damaging |
Het |
| Tnrc18 |
A |
G |
5: 142,772,984 (GRCm39) |
V432A |
unknown |
Het |
| Ttc6 |
A |
T |
12: 57,707,318 (GRCm39) |
T742S |
probably benign |
Het |
| Uhrf2 |
T |
A |
19: 30,069,519 (GRCm39) |
C749S |
probably damaging |
Het |
| Unc13c |
G |
A |
9: 73,839,579 (GRCm39) |
T424I |
probably damaging |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Vmn2r61 |
A |
C |
7: 41,916,557 (GRCm39) |
D390A |
probably damaging |
Het |
| Xpo7 |
A |
G |
14: 70,922,298 (GRCm39) |
|
probably null |
Het |
| Zfp948 |
T |
A |
17: 21,805,121 (GRCm39) |
L37* |
probably null |
Het |
|
| Other mutations in Dnai2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01359:Dnai2
|
APN |
11 |
114,642,614 (GRCm39) |
missense |
probably benign |
0.37 |
|
IGL01548:Dnai2
|
APN |
11 |
114,643,768 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02719:Dnai2
|
APN |
11 |
114,642,737 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03236:Dnai2
|
APN |
11 |
114,648,075 (GRCm39) |
unclassified |
probably benign |
|
|
R0096:Dnai2
|
UTSW |
11 |
114,645,158 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0096:Dnai2
|
UTSW |
11 |
114,645,158 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0305:Dnai2
|
UTSW |
11 |
114,643,720 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0472:Dnai2
|
UTSW |
11 |
114,636,015 (GRCm39) |
splice site |
probably benign |
|
|
R0711:Dnai2
|
UTSW |
11 |
114,645,158 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1756:Dnai2
|
UTSW |
11 |
114,641,206 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1861:Dnai2
|
UTSW |
11 |
114,643,777 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R1916:Dnai2
|
UTSW |
11 |
114,623,749 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1981:Dnai2
|
UTSW |
11 |
114,623,755 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1983:Dnai2
|
UTSW |
11 |
114,626,682 (GRCm39) |
splice site |
probably null |
|
|
R2430:Dnai2
|
UTSW |
11 |
114,648,012 (GRCm39) |
unclassified |
probably benign |
|
|
R2510:Dnai2
|
UTSW |
11 |
114,647,993 (GRCm39) |
unclassified |
probably benign |
|
|
R3001:Dnai2
|
UTSW |
11 |
114,641,297 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3002:Dnai2
|
UTSW |
11 |
114,641,297 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3113:Dnai2
|
UTSW |
11 |
114,642,756 (GRCm39) |
splice site |
probably null |
|
|
R3803:Dnai2
|
UTSW |
11 |
114,629,551 (GRCm39) |
missense |
probably benign |
|
|
R3874:Dnai2
|
UTSW |
11 |
114,623,781 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4853:Dnai2
|
UTSW |
11 |
114,635,917 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5267:Dnai2
|
UTSW |
11 |
114,631,293 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6008:Dnai2
|
UTSW |
11 |
114,643,816 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6024:Dnai2
|
UTSW |
11 |
114,643,734 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R6819:Dnai2
|
UTSW |
11 |
114,635,917 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7143:Dnai2
|
UTSW |
11 |
114,645,076 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7208:Dnai2
|
UTSW |
11 |
114,647,988 (GRCm39) |
missense |
unknown |
|
|
R7275:Dnai2
|
UTSW |
11 |
114,648,054 (GRCm39) |
missense |
unknown |
|
|
R7463:Dnai2
|
UTSW |
11 |
114,645,232 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7779:Dnai2
|
UTSW |
11 |
114,645,235 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R7899:Dnai2
|
UTSW |
11 |
114,629,456 (GRCm39) |
missense |
probably benign |
0.21 |
|
R8443:Dnai2
|
UTSW |
11 |
114,645,275 (GRCm39) |
missense |
unknown |
|
|
R8944:Dnai2
|
UTSW |
11 |
114,641,302 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R9081:Dnai2
|
UTSW |
11 |
114,629,493 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9182:Dnai2
|
UTSW |
11 |
114,623,839 (GRCm39) |
missense |
probably benign |
0.17 |
|
R9335:Dnai2
|
UTSW |
11 |
114,625,489 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9380:Dnai2
|
UTSW |
11 |
114,635,989 (GRCm39) |
missense |
probably benign |
0.12 |
|
RF012:Dnai2
|
UTSW |
11 |
114,641,242 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTGAACGCAGTCACATAGAC -3'
(R):5'- CGGGAAGAGACAAGAGCTTTCC -3'
Sequencing Primer
(F):5'- TAAACACCTACTTGGGGG -3'
(R):5'- GAGCTTTCCTCTTATCCCTGGTG -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation