Incidental Mutation 'R3721:Dnai1'
| ID |
258896 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dnai1
|
| Ensembl Gene |
ENSMUSG00000061322 |
| Gene Name |
dynein axonemal intermediate chain 1 |
| Synonyms |
b2b1526Clo, Dnaic1, 1110066F04Rik |
| MMRRC Submission |
040712-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.667)
|
| Stock # |
R3721 (G1)
|
| Quality Score |
164 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
41569775-41638158 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 41602615 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 113
(R113H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000100028
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102963]
|
| AlphaFold |
Q8C0M8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000102963
AA Change: R113H
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000100028
Gene: ENSMUSG00000061322
AA Change: R113H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
134 |
158 |
N/A |
INTRINSIC |
|
low complexity region
|
238 |
261 |
N/A |
INTRINSIC |
|
Blast:WD40
|
319 |
370 |
1e-17 |
BLAST |
|
WD40
|
374 |
413 |
1.5e-3 |
SMART |
|
WD40
|
419 |
465 |
4.4e-2 |
SMART |
|
Blast:WD40
|
493 |
526 |
5e-13 |
BLAST |
|
WD40
|
530 |
570 |
9.3e-9 |
SMART |
|
WD40
|
575 |
612 |
6e-3 |
SMART |
|
WD40
|
623 |
659 |
1.4e0 |
SMART |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.2%
|
| Validation Efficiency |
100% (59/59) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the dynein intermediate chain family. The encoded protein is part of the dynein complex in respiratory cilia. The inner- and outer-arm dyneins, which bridge between the doublet microtubules in axonemes, are the force-generating proteins responsible for the sliding movement in axonemes. The intermediate and light chains, thought to form the base of the dynein arm, help mediate attachment and may also participate in regulating dynein activity. Mutations in this gene result in abnormal ciliary ultrastructure and function associated with primary ciliary dyskinesia and Kartagener syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
PHENOTYPE: Mutant mice exhibit situs inversus, heterotaxia and ciliary dyskinesia including cardiovascular defects and decreased ciliary activity in the trachea, reduced to absent mucociliary clearance, and chronic rhinosinusitis. Hydrocephaly is also seen. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acvr2a |
T |
C |
2: 48,782,150 (GRCm39) |
S228P |
probably damaging |
Het |
| Adamts2 |
C |
T |
11: 50,664,038 (GRCm39) |
|
probably benign |
Het |
| Arhgap9 |
A |
G |
10: 127,164,840 (GRCm39) |
E588G |
possibly damaging |
Het |
| Ash2l |
C |
G |
8: 26,308,653 (GRCm39) |
G453A |
probably damaging |
Het |
| Catsperg2 |
A |
G |
7: 29,404,527 (GRCm39) |
V638A |
probably benign |
Het |
| Ccrl2 |
T |
C |
9: 110,885,432 (GRCm39) |
D22G |
probably benign |
Het |
| Cdc73 |
T |
C |
1: 143,571,191 (GRCm39) |
I83V |
possibly damaging |
Het |
| Ceacam23 |
A |
G |
7: 17,636,663 (GRCm39) |
T247A |
probably benign |
Het |
| Clec2e |
C |
A |
6: 129,071,373 (GRCm39) |
E155* |
probably null |
Het |
| Cyp3a59 |
T |
A |
5: 146,033,407 (GRCm39) |
M181K |
probably damaging |
Het |
| Dars2 |
A |
T |
1: 160,890,878 (GRCm39) |
V111E |
probably benign |
Het |
| Diras2 |
T |
A |
13: 52,662,059 (GRCm39) |
I83F |
probably damaging |
Het |
| Dlg2 |
T |
A |
7: 91,361,008 (GRCm39) |
|
probably null |
Het |
| Eeig2 |
C |
T |
3: 108,887,083 (GRCm39) |
R305Q |
probably damaging |
Het |
| Emilin2 |
T |
C |
17: 71,580,449 (GRCm39) |
N759S |
probably benign |
Het |
| F11 |
A |
G |
8: 45,701,675 (GRCm39) |
S353P |
probably damaging |
Het |
| Ggnbp1 |
T |
C |
17: 27,248,587 (GRCm39) |
V52A |
probably benign |
Het |
| Gpr171 |
A |
G |
3: 59,005,091 (GRCm39) |
V228A |
possibly damaging |
Het |
| Gsta3 |
T |
C |
1: 21,330,313 (GRCm39) |
M55T |
probably benign |
Het |
| Hectd3 |
T |
A |
4: 116,856,942 (GRCm39) |
N496K |
probably benign |
Het |
| Hp1bp3 |
T |
G |
4: 137,966,919 (GRCm39) |
F367V |
probably damaging |
Het |
| Il18rap |
T |
A |
1: 40,576,248 (GRCm39) |
L253Q |
probably damaging |
Het |
| Irs1 |
C |
T |
1: 82,267,806 (GRCm39) |
G137S |
probably benign |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Lair1 |
A |
C |
7: 4,013,782 (GRCm39) |
L155R |
probably damaging |
Het |
| Larp7 |
A |
G |
3: 127,340,460 (GRCm39) |
L126P |
probably damaging |
Het |
| Lhx1 |
G |
A |
11: 84,412,654 (GRCm39) |
R89C |
probably damaging |
Het |
| Lypd4 |
C |
A |
7: 24,564,884 (GRCm39) |
A85S |
probably benign |
Het |
| Mei1 |
A |
G |
15: 81,987,405 (GRCm39) |
H399R |
possibly damaging |
Het |
| Myh10 |
G |
T |
11: 68,703,878 (GRCm39) |
R1863L |
probably damaging |
Het |
| Myo9a |
G |
A |
9: 59,775,463 (GRCm39) |
V1025I |
probably benign |
Het |
| Naa25 |
T |
A |
5: 121,569,619 (GRCm39) |
D659E |
probably benign |
Het |
| Nol9 |
A |
G |
4: 152,124,163 (GRCm39) |
S118G |
probably benign |
Het |
| Or4k2 |
C |
T |
14: 50,424,137 (GRCm39) |
C179Y |
probably damaging |
Het |
| Or5p72 |
G |
T |
7: 108,022,326 (GRCm39) |
D183Y |
probably damaging |
Het |
| Pde10a |
T |
A |
17: 9,188,421 (GRCm39) |
I907N |
probably damaging |
Het |
| Pkhd1 |
T |
C |
1: 20,655,879 (GRCm39) |
D218G |
probably benign |
Het |
| Poll |
A |
G |
19: 45,542,016 (GRCm39) |
I430T |
probably damaging |
Het |
| Pomgnt1 |
T |
G |
4: 116,010,740 (GRCm39) |
|
probably benign |
Het |
| Rab6b |
T |
C |
9: 103,044,373 (GRCm39) |
|
probably null |
Het |
| Rad1 |
T |
C |
15: 10,488,112 (GRCm39) |
S79P |
probably benign |
Het |
| Ranbp17 |
GCCTGGATACTGACC |
GCC |
11: 33,169,203 (GRCm39) |
|
probably benign |
Het |
| Rcc1 |
T |
C |
4: 132,065,125 (GRCm39) |
K133E |
possibly damaging |
Het |
| Ric8a |
T |
C |
7: 140,441,874 (GRCm39) |
|
probably null |
Het |
| Rnf135 |
G |
T |
11: 80,087,743 (GRCm39) |
A231S |
probably benign |
Het |
| Rps6ka4 |
A |
G |
19: 6,816,645 (GRCm39) |
V146A |
possibly damaging |
Het |
| Sh3bp4 |
A |
G |
1: 89,073,050 (GRCm39) |
I633V |
possibly damaging |
Het |
| Slc2a2 |
T |
A |
3: 28,781,301 (GRCm39) |
N446K |
probably damaging |
Het |
| Slc44a1 |
T |
C |
4: 53,491,445 (GRCm39) |
Y61H |
probably damaging |
Het |
| Slc7a1 |
G |
A |
5: 148,272,343 (GRCm39) |
R445* |
probably null |
Het |
| Smc5 |
T |
C |
19: 23,187,856 (GRCm39) |
M911V |
probably benign |
Het |
| Sntb1 |
C |
A |
15: 55,506,214 (GRCm39) |
R453L |
probably benign |
Het |
| Spink4 |
T |
A |
4: 40,929,136 (GRCm39) |
C54S |
probably damaging |
Het |
| Srrm2 |
CTCCTCTTCTTCCTCTTCTTCCTC |
CTCCTCTTCTTCCTC |
17: 24,041,549 (GRCm39) |
|
probably benign |
Het |
| Trpm1 |
T |
G |
7: 63,867,475 (GRCm39) |
|
probably benign |
Het |
| Tufm |
T |
C |
7: 126,089,632 (GRCm39) |
M442T |
probably benign |
Het |
| Ubn1 |
A |
G |
16: 4,891,242 (GRCm39) |
N539S |
possibly damaging |
Het |
|
| Other mutations in Dnai1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02678:Dnai1
|
APN |
4 |
41,602,917 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02825:Dnai1
|
APN |
4 |
41,625,101 (GRCm39) |
splice site |
probably benign |
|
|
IGL03072:Dnai1
|
APN |
4 |
41,602,979 (GRCm39) |
missense |
probably benign |
0.00 |
|
H8562:Dnai1
|
UTSW |
4 |
41,629,833 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R0114:Dnai1
|
UTSW |
4 |
41,605,686 (GRCm39) |
splice site |
probably benign |
|
|
R0138:Dnai1
|
UTSW |
4 |
41,629,814 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R0153:Dnai1
|
UTSW |
4 |
41,635,162 (GRCm39) |
unclassified |
probably benign |
|
|
R0465:Dnai1
|
UTSW |
4 |
41,629,988 (GRCm39) |
splice site |
probably null |
|
|
R0550:Dnai1
|
UTSW |
4 |
41,596,274 (GRCm39) |
nonsense |
probably null |
|
|
R0555:Dnai1
|
UTSW |
4 |
41,625,335 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R0890:Dnai1
|
UTSW |
4 |
41,604,253 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R0928:Dnai1
|
UTSW |
4 |
41,602,566 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R0944:Dnai1
|
UTSW |
4 |
41,629,997 (GRCm39) |
missense |
probably benign |
|
|
R1714:Dnai1
|
UTSW |
4 |
41,632,164 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1902:Dnai1
|
UTSW |
4 |
41,625,319 (GRCm39) |
nonsense |
probably null |
|
|
R1919:Dnai1
|
UTSW |
4 |
41,570,020 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1983:Dnai1
|
UTSW |
4 |
41,603,232 (GRCm39) |
missense |
probably benign |
|
|
R2036:Dnai1
|
UTSW |
4 |
41,632,225 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2306:Dnai1
|
UTSW |
4 |
41,625,239 (GRCm39) |
missense |
probably benign |
|
|
R2925:Dnai1
|
UTSW |
4 |
41,597,919 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3404:Dnai1
|
UTSW |
4 |
41,603,246 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3720:Dnai1
|
UTSW |
4 |
41,602,615 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3722:Dnai1
|
UTSW |
4 |
41,602,615 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3931:Dnai1
|
UTSW |
4 |
41,604,229 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4330:Dnai1
|
UTSW |
4 |
41,637,966 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4755:Dnai1
|
UTSW |
4 |
41,610,269 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4905:Dnai1
|
UTSW |
4 |
41,614,269 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4997:Dnai1
|
UTSW |
4 |
41,597,919 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R5088:Dnai1
|
UTSW |
4 |
41,632,251 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5088:Dnai1
|
UTSW |
4 |
41,597,630 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5970:Dnai1
|
UTSW |
4 |
41,625,281 (GRCm39) |
missense |
probably benign |
0.14 |
|
R5987:Dnai1
|
UTSW |
4 |
41,632,391 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6247:Dnai1
|
UTSW |
4 |
41,605,775 (GRCm39) |
missense |
probably benign |
|
|
R6727:Dnai1
|
UTSW |
4 |
41,625,308 (GRCm39) |
missense |
probably benign |
|
|
R6874:Dnai1
|
UTSW |
4 |
41,632,412 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6914:Dnai1
|
UTSW |
4 |
41,625,176 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7508:Dnai1
|
UTSW |
4 |
41,614,323 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7831:Dnai1
|
UTSW |
4 |
41,614,695 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7832:Dnai1
|
UTSW |
4 |
41,605,823 (GRCm39) |
missense |
probably benign |
0.42 |
|
R7985:Dnai1
|
UTSW |
4 |
41,630,055 (GRCm39) |
missense |
probably benign |
|
|
R8065:Dnai1
|
UTSW |
4 |
41,614,258 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8067:Dnai1
|
UTSW |
4 |
41,614,258 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8234:Dnai1
|
UTSW |
4 |
41,625,221 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8906:Dnai1
|
UTSW |
4 |
41,625,125 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9537:Dnai1
|
UTSW |
4 |
41,629,790 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9723:Dnai1
|
UTSW |
4 |
41,603,302 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
X0065:Dnai1
|
UTSW |
4 |
41,629,868 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
Z1176:Dnai1
|
UTSW |
4 |
41,614,323 (GRCm39) |
missense |
probably benign |
0.32 |
|
Z1177:Dnai1
|
UTSW |
4 |
41,569,809 (GRCm39) |
unclassified |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GACTAAGGGAGACAGCATTCTG -3'
(R):5'- AGTTAAGGGTCCAAGCCAGC -3'
Sequencing Primer
(F):5'- GGGAGACAGCATTCTGACACC -3'
(R):5'- AGACTCTGTCCCTTGGGC -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation