Incidental Mutation 'IGL01731:Dnai4'
| ID |
105484 |
| 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: 0.095)
|
| Stock # |
IGL01731
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
102895262-102971521 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 102919632 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 139
(I139V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042272
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036451]
[ENSMUST00000036557]
[ENSMUST00000106868]
[ENSMUST00000116316]
|
| AlphaFold |
E9PYY5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036451
AA Change: I491V
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000037588
Gene: ENSMUSG00000035126
AA Change: I491V
| 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
AA Change: I139V
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000042272
Gene: ENSMUSG00000035126
AA Change: I139V
| 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: I491V
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000102481
Gene: ENSMUSG00000035126
AA Change: I491V
| 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: I491V
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000112018
Gene: ENSMUSG00000035126
AA Change: I491V
| 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 |
noncoding transcript
Transcript: ENSMUST00000136355
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138960
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A430093F15Rik |
T |
A |
19: 10,762,711 (GRCm39) |
|
probably benign |
Het |
| Abca13 |
T |
C |
11: 9,199,749 (GRCm39) |
|
probably benign |
Het |
| Abcc6 |
G |
A |
7: 45,652,034 (GRCm39) |
P611L |
possibly damaging |
Het |
| Acsl6 |
A |
G |
11: 54,241,385 (GRCm39) |
E547G |
probably benign |
Het |
| Aldh1b1 |
T |
C |
4: 45,803,472 (GRCm39) |
F337L |
possibly damaging |
Het |
| Alg1 |
C |
T |
16: 5,062,383 (GRCm39) |
R422C |
probably benign |
Het |
| Ankrd23 |
A |
G |
1: 36,573,147 (GRCm39) |
L75S |
probably damaging |
Het |
| Arid5b |
T |
C |
10: 67,933,439 (GRCm39) |
H578R |
probably damaging |
Het |
| Atp10a |
G |
T |
7: 58,447,310 (GRCm39) |
W684L |
probably benign |
Het |
| Bzw2 |
T |
C |
12: 36,157,647 (GRCm39) |
|
probably null |
Het |
| C2cd2 |
A |
T |
16: 97,671,372 (GRCm39) |
I509K |
probably damaging |
Het |
| Card11 |
T |
C |
5: 140,868,057 (GRCm39) |
T864A |
possibly damaging |
Het |
| Ces1f |
A |
G |
8: 93,993,948 (GRCm39) |
S278P |
possibly damaging |
Het |
| Chd8 |
T |
C |
14: 52,450,111 (GRCm39) |
I208V |
probably benign |
Het |
| Cstf2t |
T |
C |
19: 31,061,738 (GRCm39) |
S425P |
probably benign |
Het |
| Cxcl1 |
A |
G |
5: 91,039,436 (GRCm39) |
T60A |
probably benign |
Het |
| Diaph1 |
G |
T |
18: 37,986,762 (GRCm39) |
|
probably benign |
Het |
| Exoc3l |
T |
G |
8: 106,019,587 (GRCm39) |
K394T |
probably benign |
Het |
| Fabp4 |
T |
C |
3: 10,270,293 (GRCm39) |
|
probably benign |
Het |
| Fam234b |
T |
A |
6: 135,188,903 (GRCm39) |
F169L |
possibly damaging |
Het |
| Hectd1 |
C |
A |
12: 51,849,593 (GRCm39) |
D204Y |
possibly damaging |
Het |
| Hephl1 |
A |
T |
9: 14,981,066 (GRCm39) |
Y789N |
probably damaging |
Het |
| Igfbp6 |
C |
A |
15: 102,053,252 (GRCm39) |
N90K |
probably benign |
Het |
| Khdrbs1 |
A |
T |
4: 129,619,462 (GRCm39) |
D226E |
probably benign |
Het |
| Lipo4 |
T |
A |
19: 33,490,013 (GRCm39) |
Q163L |
probably damaging |
Het |
| Med13l |
T |
C |
5: 118,880,472 (GRCm39) |
I1188T |
probably benign |
Het |
| Mki67 |
T |
C |
7: 135,298,278 (GRCm39) |
E2252G |
probably benign |
Het |
| Nepn |
G |
T |
10: 52,276,660 (GRCm39) |
R132L |
probably benign |
Het |
| Nlrp9b |
T |
A |
7: 19,757,342 (GRCm39) |
L193* |
probably null |
Het |
| Ntn1 |
A |
G |
11: 68,276,244 (GRCm39) |
S235P |
probably damaging |
Het |
| Nup210l |
G |
T |
3: 90,061,873 (GRCm39) |
R684L |
probably damaging |
Het |
| Obi1 |
T |
C |
14: 104,716,738 (GRCm39) |
D545G |
probably damaging |
Het |
| Obp2b |
A |
G |
2: 25,629,293 (GRCm39) |
S154G |
possibly damaging |
Het |
| Or10ag59 |
A |
G |
2: 87,406,282 (GRCm39) |
T285A |
probably benign |
Het |
| Or4f57 |
A |
G |
2: 111,790,980 (GRCm39) |
V146A |
probably benign |
Het |
| Or51b6b |
T |
A |
7: 103,310,053 (GRCm39) |
T135S |
probably benign |
Het |
| Or5p1 |
A |
T |
7: 107,916,682 (GRCm39) |
I194F |
probably benign |
Het |
| Polr3b |
A |
T |
10: 84,467,704 (GRCm39) |
R95* |
probably null |
Het |
| Prelid2 |
C |
T |
18: 42,070,714 (GRCm39) |
V40M |
probably benign |
Het |
| Ptprb |
T |
G |
10: 116,208,781 (GRCm39) |
L2205R |
probably damaging |
Het |
| R3hcc1l |
T |
C |
19: 42,551,240 (GRCm39) |
V79A |
probably benign |
Het |
| Stam2 |
A |
G |
2: 52,598,162 (GRCm39) |
I259T |
probably damaging |
Het |
| Tdpoz4 |
A |
T |
3: 93,704,189 (GRCm39) |
N162I |
possibly damaging |
Het |
| Tuba3a |
A |
G |
6: 125,259,721 (GRCm39) |
V75A |
possibly damaging |
Het |
| Vmn2r73 |
A |
T |
7: 85,506,757 (GRCm39) |
*852K |
probably null |
Het |
| Zfp7 |
C |
T |
15: 76,772,505 (GRCm39) |
Q69* |
probably null |
Het |
| Zfp865 |
G |
T |
7: 5,032,875 (GRCm39) |
A287S |
probably benign |
Het |
| Zmpste24 |
T |
A |
4: 120,955,081 (GRCm39) |
Q39L |
probably benign |
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 |
|
|
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 |
|
IGL02226:Dnai4
|
APN |
4 |
102,947,595 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
2014-01-21 |
Incidental Mutation