Incidental Mutation 'IGL02226:Dnai4'
ID |
285343 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Dnai4
|
Ensembl Gene |
ENSMUSG00000035126 |
Gene Name |
dynein axonemal intermediate chain 4 |
Synonyms |
Wdr78 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.083)
|
Stock # |
IGL02226
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
102895262-102971521 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 102947595 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Lysine
at position 227
(I227K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112018
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036451]
[ENSMUST00000036557]
[ENSMUST00000106868]
[ENSMUST00000116316]
|
AlphaFold |
E9PYY5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000036451
AA Change: I227K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000037588 Gene: ENSMUSG00000035126 AA Change: I227K
Domain | Start | End | E-Value | Type |
low complexity region
|
12 |
20 |
N/A |
INTRINSIC |
low complexity region
|
32 |
43 |
N/A |
INTRINSIC |
low complexity region
|
138 |
157 |
N/A |
INTRINSIC |
low complexity region
|
189 |
206 |
N/A |
INTRINSIC |
low complexity region
|
219 |
234 |
N/A |
INTRINSIC |
low complexity region
|
382 |
390 |
N/A |
INTRINSIC |
low complexity region
|
399 |
423 |
N/A |
INTRINSIC |
internal_repeat_1
|
447 |
466 |
2.11e-5 |
PROSPERO |
WD40
|
485 |
524 |
1.85e-3 |
SMART |
WD40
|
534 |
581 |
5.7e1 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000036557
|
SMART Domains |
Protein: ENSMUSP00000042272 Gene: ENSMUSG00000035126
Domain | Start | End | E-Value | Type |
low complexity region
|
59 |
67 |
N/A |
INTRINSIC |
low complexity region
|
76 |
100 |
N/A |
INTRINSIC |
WD40
|
133 |
172 |
9.24e-4 |
SMART |
WD40
|
182 |
229 |
5.7e1 |
SMART |
low complexity region
|
249 |
261 |
N/A |
INTRINSIC |
Blast:WD40
|
262 |
296 |
2e-12 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000106868
AA Change: I227K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000102481 Gene: ENSMUSG00000035126 AA Change: I227K
Domain | Start | End | E-Value | Type |
low complexity region
|
12 |
20 |
N/A |
INTRINSIC |
low complexity region
|
32 |
43 |
N/A |
INTRINSIC |
low complexity region
|
138 |
157 |
N/A |
INTRINSIC |
low complexity region
|
189 |
206 |
N/A |
INTRINSIC |
low complexity region
|
219 |
234 |
N/A |
INTRINSIC |
low complexity region
|
382 |
390 |
N/A |
INTRINSIC |
low complexity region
|
399 |
423 |
N/A |
INTRINSIC |
internal_repeat_1
|
447 |
466 |
8.61e-5 |
PROSPERO |
WD40
|
485 |
524 |
1.85e-3 |
SMART |
WD40
|
534 |
581 |
5.7e1 |
SMART |
low complexity region
|
601 |
613 |
N/A |
INTRINSIC |
Blast:WD40
|
614 |
648 |
3e-12 |
BLAST |
WD40
|
652 |
692 |
2.38e-6 |
SMART |
WD40
|
695 |
734 |
1.48e-2 |
SMART |
WD40
|
739 |
779 |
6.14e1 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000116316
AA Change: I227K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000112018 Gene: ENSMUSG00000035126 AA Change: I227K
Domain | Start | End | E-Value | Type |
low complexity region
|
12 |
20 |
N/A |
INTRINSIC |
low complexity region
|
32 |
43 |
N/A |
INTRINSIC |
low complexity region
|
138 |
157 |
N/A |
INTRINSIC |
low complexity region
|
189 |
206 |
N/A |
INTRINSIC |
low complexity region
|
219 |
234 |
N/A |
INTRINSIC |
low complexity region
|
382 |
390 |
N/A |
INTRINSIC |
low complexity region
|
399 |
423 |
N/A |
INTRINSIC |
internal_repeat_1
|
447 |
466 |
2.11e-5 |
PROSPERO |
WD40
|
485 |
524 |
1.85e-3 |
SMART |
WD40
|
534 |
581 |
5.7e1 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000148673
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akap6 |
T |
C |
12: 53,057,250 (GRCm39) |
|
probably benign |
Het |
Ankrd11 |
G |
A |
8: 123,618,984 (GRCm39) |
R1602W |
probably damaging |
Het |
Arhgap23 |
G |
T |
11: 97,342,426 (GRCm39) |
R236L |
probably benign |
Het |
Aurkaip1 |
T |
C |
4: 155,917,028 (GRCm39) |
V92A |
probably benign |
Het |
Cdh20 |
A |
T |
1: 104,881,816 (GRCm39) |
|
probably benign |
Het |
Ctnnd2 |
A |
G |
15: 30,847,482 (GRCm39) |
N691S |
probably benign |
Het |
Ddx24 |
A |
C |
12: 103,390,717 (GRCm39) |
D2E |
possibly damaging |
Het |
Dennd5b |
A |
G |
6: 148,934,799 (GRCm39) |
S691P |
probably benign |
Het |
Dhrs3 |
C |
T |
4: 144,650,519 (GRCm39) |
R248W |
possibly damaging |
Het |
Dlgap1 |
T |
C |
17: 70,823,029 (GRCm39) |
S5P |
probably damaging |
Het |
Ep300 |
A |
T |
15: 81,497,613 (GRCm39) |
M510L |
unknown |
Het |
Fbxo25 |
T |
C |
8: 13,973,922 (GRCm39) |
|
probably benign |
Het |
Gm3252 |
A |
T |
14: 4,743,741 (GRCm38) |
K193M |
possibly damaging |
Het |
Gtf3c1 |
T |
C |
7: 125,267,162 (GRCm39) |
|
probably null |
Het |
Helz2 |
T |
C |
2: 180,873,483 (GRCm39) |
D2337G |
probably damaging |
Het |
Idh1 |
A |
T |
1: 65,201,081 (GRCm39) |
M290K |
probably damaging |
Het |
Layn |
T |
C |
9: 50,985,317 (GRCm39) |
S80G |
probably damaging |
Het |
Ltbp4 |
C |
T |
7: 27,006,359 (GRCm39) |
E1440K |
probably damaging |
Het |
Mri1 |
T |
C |
8: 84,982,924 (GRCm39) |
T166A |
probably damaging |
Het |
Myod1 |
C |
T |
7: 46,027,730 (GRCm39) |
T290I |
probably benign |
Het |
Nfat5 |
T |
A |
8: 108,078,154 (GRCm39) |
L431* |
probably null |
Het |
Nle1 |
A |
T |
11: 82,795,133 (GRCm39) |
Y299* |
probably null |
Het |
Nlrp4c |
T |
A |
7: 6,069,828 (GRCm39) |
F576L |
possibly damaging |
Het |
Nudt21 |
G |
T |
8: 94,746,329 (GRCm39) |
S123* |
probably null |
Het |
Plekhg1 |
A |
C |
10: 3,895,916 (GRCm39) |
D436A |
probably damaging |
Het |
Plxna2 |
T |
C |
1: 194,326,732 (GRCm39) |
V222A |
probably damaging |
Het |
Ppp4r3c1 |
A |
C |
X: 88,975,518 (GRCm39) |
D226E |
probably damaging |
Het |
Rbm14 |
A |
G |
19: 4,851,745 (GRCm39) |
|
probably benign |
Het |
Scfd1 |
T |
A |
12: 51,436,164 (GRCm39) |
|
probably benign |
Het |
Slc34a2 |
A |
G |
5: 53,225,073 (GRCm39) |
T405A |
probably benign |
Het |
Slc39a9 |
T |
A |
12: 80,691,695 (GRCm39) |
M14K |
probably damaging |
Het |
Slc39a9 |
G |
A |
12: 80,691,696 (GRCm39) |
M14I |
probably damaging |
Het |
Spast |
G |
A |
17: 74,679,334 (GRCm39) |
|
probably benign |
Het |
Spen |
T |
C |
4: 141,205,457 (GRCm39) |
R1057G |
unknown |
Het |
Sptbn4 |
T |
G |
7: 27,065,132 (GRCm39) |
T2056P |
probably damaging |
Het |
Ssrp1 |
T |
C |
2: 84,870,705 (GRCm39) |
L148P |
probably damaging |
Het |
Tdrd6 |
T |
A |
17: 43,938,093 (GRCm39) |
H985L |
probably damaging |
Het |
Tmem44 |
A |
G |
16: 30,358,199 (GRCm39) |
|
probably benign |
Het |
Vmn2r116 |
T |
A |
17: 23,603,808 (GRCm39) |
L11Q |
probably null |
Het |
|
Other mutations in Dnai4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00505:Dnai4
|
APN |
4 |
102,960,439 (GRCm39) |
missense |
possibly damaging |
0.77 |
IGL01508:Dnai4
|
APN |
4 |
102,929,884 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL01509:Dnai4
|
APN |
4 |
102,929,884 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL01511:Dnai4
|
APN |
4 |
102,905,558 (GRCm39) |
missense |
possibly damaging |
0.81 |
IGL01693:Dnai4
|
APN |
4 |
102,944,527 (GRCm39) |
splice site |
probably null |
|
IGL01731:Dnai4
|
APN |
4 |
102,919,632 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02033:Dnai4
|
APN |
4 |
102,923,490 (GRCm39) |
missense |
possibly damaging |
0.58 |
IGL02100:Dnai4
|
APN |
4 |
102,907,346 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02218:Dnai4
|
APN |
4 |
102,953,971 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02476:Dnai4
|
APN |
4 |
102,944,545 (GRCm39) |
missense |
possibly damaging |
0.46 |
IGL02929:Dnai4
|
APN |
4 |
102,917,188 (GRCm39) |
nonsense |
probably null |
|
R0070:Dnai4
|
UTSW |
4 |
102,917,131 (GRCm39) |
missense |
probably damaging |
1.00 |
R0377:Dnai4
|
UTSW |
4 |
102,905,456 (GRCm39) |
missense |
probably damaging |
1.00 |
R0433:Dnai4
|
UTSW |
4 |
102,960,450 (GRCm39) |
missense |
probably benign |
0.41 |
R0518:Dnai4
|
UTSW |
4 |
102,921,727 (GRCm39) |
nonsense |
probably null |
|
R0538:Dnai4
|
UTSW |
4 |
102,953,815 (GRCm39) |
missense |
possibly damaging |
0.65 |
R0624:Dnai4
|
UTSW |
4 |
102,930,054 (GRCm39) |
splice site |
probably benign |
|
R0894:Dnai4
|
UTSW |
4 |
102,906,583 (GRCm39) |
intron |
probably benign |
|
R1463:Dnai4
|
UTSW |
4 |
102,944,615 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1818:Dnai4
|
UTSW |
4 |
102,929,854 (GRCm39) |
missense |
possibly damaging |
0.67 |
R2073:Dnai4
|
UTSW |
4 |
102,907,390 (GRCm39) |
missense |
probably damaging |
1.00 |
R2075:Dnai4
|
UTSW |
4 |
102,907,390 (GRCm39) |
missense |
probably damaging |
1.00 |
R2436:Dnai4
|
UTSW |
4 |
102,923,549 (GRCm39) |
missense |
probably benign |
0.01 |
R2851:Dnai4
|
UTSW |
4 |
102,953,858 (GRCm39) |
missense |
probably benign |
0.12 |
R2852:Dnai4
|
UTSW |
4 |
102,953,858 (GRCm39) |
missense |
probably benign |
0.12 |
R2853:Dnai4
|
UTSW |
4 |
102,907,355 (GRCm39) |
missense |
possibly damaging |
0.90 |
R4491:Dnai4
|
UTSW |
4 |
102,923,596 (GRCm39) |
missense |
probably benign |
0.04 |
R4792:Dnai4
|
UTSW |
4 |
102,929,881 (GRCm39) |
missense |
possibly damaging |
0.94 |
R5223:Dnai4
|
UTSW |
4 |
102,906,600 (GRCm39) |
missense |
possibly damaging |
0.87 |
R5290:Dnai4
|
UTSW |
4 |
102,906,730 (GRCm39) |
missense |
probably benign |
0.00 |
R5465:Dnai4
|
UTSW |
4 |
102,906,758 (GRCm39) |
missense |
probably damaging |
1.00 |
R5975:Dnai4
|
UTSW |
4 |
102,906,786 (GRCm39) |
missense |
probably benign |
0.03 |
R6239:Dnai4
|
UTSW |
4 |
102,923,640 (GRCm39) |
missense |
probably benign |
|
R6304:Dnai4
|
UTSW |
4 |
102,944,553 (GRCm39) |
missense |
probably benign |
0.35 |
R6456:Dnai4
|
UTSW |
4 |
102,906,746 (GRCm39) |
missense |
probably benign |
0.00 |
R6467:Dnai4
|
UTSW |
4 |
102,906,758 (GRCm39) |
missense |
probably damaging |
1.00 |
R6813:Dnai4
|
UTSW |
4 |
102,905,523 (GRCm39) |
missense |
probably benign |
0.26 |
R7161:Dnai4
|
UTSW |
4 |
102,953,813 (GRCm39) |
missense |
probably benign |
0.28 |
R7198:Dnai4
|
UTSW |
4 |
102,919,610 (GRCm39) |
missense |
probably damaging |
0.98 |
R7208:Dnai4
|
UTSW |
4 |
102,923,549 (GRCm39) |
missense |
probably benign |
0.00 |
R7320:Dnai4
|
UTSW |
4 |
102,907,384 (GRCm39) |
missense |
possibly damaging |
0.68 |
R7742:Dnai4
|
UTSW |
4 |
102,947,630 (GRCm39) |
missense |
probably benign |
|
R7939:Dnai4
|
UTSW |
4 |
102,953,798 (GRCm39) |
nonsense |
probably null |
|
R8120:Dnai4
|
UTSW |
4 |
102,923,531 (GRCm39) |
missense |
probably damaging |
1.00 |
R8353:Dnai4
|
UTSW |
4 |
102,917,113 (GRCm39) |
missense |
possibly damaging |
0.63 |
R8453:Dnai4
|
UTSW |
4 |
102,917,113 (GRCm39) |
missense |
possibly damaging |
0.63 |
R8813:Dnai4
|
UTSW |
4 |
102,947,697 (GRCm39) |
missense |
possibly damaging |
0.53 |
R8870:Dnai4
|
UTSW |
4 |
102,944,529 (GRCm39) |
critical splice donor site |
probably null |
|
R8909:Dnai4
|
UTSW |
4 |
102,944,607 (GRCm39) |
missense |
possibly damaging |
0.91 |
R8957:Dnai4
|
UTSW |
4 |
102,953,950 (GRCm39) |
missense |
probably damaging |
1.00 |
R9035:Dnai4
|
UTSW |
4 |
102,905,499 (GRCm39) |
nonsense |
probably null |
|
R9060:Dnai4
|
UTSW |
4 |
102,947,750 (GRCm39) |
missense |
probably benign |
0.06 |
R9132:Dnai4
|
UTSW |
4 |
102,916,930 (GRCm39) |
missense |
probably damaging |
1.00 |
R9141:Dnai4
|
UTSW |
4 |
102,906,743 (GRCm39) |
missense |
probably damaging |
0.98 |
R9188:Dnai4
|
UTSW |
4 |
102,939,332 (GRCm39) |
missense |
|
|
R9426:Dnai4
|
UTSW |
4 |
102,906,743 (GRCm39) |
missense |
probably damaging |
0.98 |
Z1176:Dnai4
|
UTSW |
4 |
102,929,968 (GRCm39) |
missense |
probably benign |
0.08 |
|
Posted On |
2015-04-16 |