Incidental Mutation 'R2293:Dnah10'
ID | 245072 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dnah10
|
Ensembl Gene |
ENSMUSG00000038011 |
Gene Name | dynein, axonemal, heavy chain 10 |
Synonyms | Dnahc10 |
MMRRC Submission |
040292-MU
|
Accession Numbers |
Ncbi RefSeq: NM_019536.1; MGI:1860299
|
Is this an essential gene? |
Non essential (E-score: 0.000)
|
Stock # | R2293 (G1)
|
Quality Score | 225 |
Status |
Not validated
|
Chromosome | 5 |
Chromosomal Location | 124725085-124834308 bp(+) (GRCm38) |
Type of Mutation | missense |
DNA Base Change (assembly) |
T to C
at 124819221 bp
|
Zygosity | Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 3550
(Y3550H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000114593
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058440]
[ENSMUST00000141137]
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000058440
AA Change: Y3607H
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000062995 Gene: ENSMUSG00000038011 AA Change: Y3607H
Domain | Start | End | E-Value | Type |
low complexity region
|
63 |
72 |
N/A |
INTRINSIC |
low complexity region
|
80 |
86 |
N/A |
INTRINSIC |
coiled coil region
|
260 |
282 |
N/A |
INTRINSIC |
Pfam:DHC_N1
|
305 |
878 |
9.1e-154 |
PFAM |
coiled coil region
|
1191 |
1218 |
N/A |
INTRINSIC |
coiled coil region
|
1337 |
1360 |
N/A |
INTRINSIC |
Pfam:DHC_N2
|
1374 |
1782 |
1.7e-142 |
PFAM |
AAA
|
1946 |
2082 |
2.51e-1 |
SMART |
AAA
|
2225 |
2373 |
6.91e-1 |
SMART |
low complexity region
|
2444 |
2464 |
N/A |
INTRINSIC |
AAA
|
2567 |
2720 |
2.29e-2 |
SMART |
Pfam:AAA_8
|
2886 |
3153 |
9.8e-87 |
PFAM |
Pfam:MT
|
3165 |
3502 |
9.1e-53 |
PFAM |
Pfam:AAA_9
|
3522 |
3747 |
2.3e-90 |
PFAM |
Pfam:Dynein_heavy
|
3884 |
4588 |
7.6e-240 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000141137
AA Change: Y3550H
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000114593 Gene: ENSMUSG00000038011 AA Change: Y3550H
Domain | Start | End | E-Value | Type |
low complexity region
|
63 |
72 |
N/A |
INTRINSIC |
low complexity region
|
80 |
86 |
N/A |
INTRINSIC |
coiled coil region
|
260 |
282 |
N/A |
INTRINSIC |
Pfam:DHC_N1
|
304 |
607 |
4.3e-57 |
PFAM |
Pfam:DHC_N1
|
598 |
823 |
1.2e-39 |
PFAM |
coiled coil region
|
1134 |
1161 |
N/A |
INTRINSIC |
coiled coil region
|
1280 |
1303 |
N/A |
INTRINSIC |
Pfam:DHC_N2
|
1315 |
1727 |
7.3e-135 |
PFAM |
AAA
|
1889 |
2025 |
4e-3 |
SMART |
AAA
|
2168 |
2316 |
1.1e-2 |
SMART |
low complexity region
|
2387 |
2407 |
N/A |
INTRINSIC |
AAA
|
2510 |
2663 |
3.6e-4 |
SMART |
Pfam:AAA_8
|
2829 |
3096 |
2.5e-83 |
PFAM |
Pfam:MT
|
3108 |
3445 |
1.2e-50 |
PFAM |
Pfam:AAA_9
|
3461 |
3691 |
6.7e-59 |
PFAM |
Pfam:Dynein_heavy
|
3821 |
4532 |
1.9e-231 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196708
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197269
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.2%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Dyneins are microtubule-associated motor protein complexes composed of several heavy, light, and intermediate chains. The axonemal dyneins, found in cilia and flagella, are components of the outer and inner dynein arms attached to the peripheral microtubule doublets. DNAH10 is an inner arm dynein heavy chain (Maiti et al., 2000 [PubMed 11175280]).[supplied by OMIM, Mar 2008]
|
Allele List at MGI |
All alleles(2) : Gene trapped(2)
|
Other mutations in this stock |
Total: 22 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ano9 |
T |
C |
7: 141,102,515 |
N640S |
probably benign |
Het |
Aox4 |
T |
A |
1: 58,221,937 |
I143N |
probably damaging |
Het |
Arhgef11 |
C |
T |
3: 87,727,990 |
R869C |
probably damaging |
Het |
Bcl6 |
T |
C |
16: 23,977,609 |
N23D |
probably damaging |
Het |
Brca2 |
T |
A |
5: 150,560,534 |
F2939L |
possibly damaging |
Het |
Bsn |
C |
T |
9: 108,113,067 |
A1829T |
possibly damaging |
Het |
Cyp2j6 |
T |
A |
4: 96,529,433 |
T318S |
possibly damaging |
Het |
Dlg5 |
A |
C |
14: 24,158,112 |
S1009A |
probably benign |
Het |
Dlx6 |
A |
G |
6: 6,867,246 |
Y283C |
probably damaging |
Het |
Dock7 |
T |
C |
4: 98,966,369 |
S1553G |
probably damaging |
Het |
Ice1 |
C |
A |
13: 70,614,957 |
D193Y |
probably damaging |
Het |
Mdga2 |
A |
T |
12: 66,568,985 |
L547* |
probably null |
Het |
Mgat4a |
C |
A |
1: 37,452,592 |
R215L |
probably damaging |
Het |
Msantd2 |
A |
G |
9: 37,489,804 |
T69A |
probably damaging |
Het |
Muc5ac |
A |
G |
7: 141,807,199 |
T1416A |
probably damaging |
Het |
Nup214 |
T |
C |
2: 32,026,875 |
S1181P |
probably benign |
Het |
Pip5k1c |
A |
G |
10: 81,314,084 |
E42G |
possibly damaging |
Het |
Slc12a5 |
A |
G |
2: 164,992,330 |
E757G |
probably benign |
Het |
Slc16a14 |
A |
T |
1: 84,912,843 |
M247K |
probably benign |
Het |
Slc35b2 |
T |
A |
17: 45,567,141 |
V398E |
probably damaging |
Het |
Slc44a5 |
C |
A |
3: 154,240,297 |
L156I |
probably benign |
Het |
Trmt11 |
G |
C |
10: 30,547,748 |
P387R |
probably damaging |
Het |
|
Other mutations in Dnah10 |
|
Predicted Primers |
PCR Primer
(F):5'- AGTGGTCTCCAGTTTTGTCC -3'
(R):5'- GATGTTTGCAGCCAGATCTG -3'
Sequencing Primer
(F):5'- AGTGGTCTCCAGTTTTGTCCTATGC -3'
(R):5'- CCAGTATAGTTGATGACCATGGCC -3'
|
Posted On | 2014-10-30 |