Incidental Mutation 'IGL01511:Dnai4'
ID |
89209 |
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 # |
IGL01511
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
102895262-102971521 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 102905558 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 741
(D741G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102481
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036451]
[ENSMUST00000036557]
[ENSMUST00000106868]
[ENSMUST00000116316]
|
AlphaFold |
E9PYY5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000036451
|
SMART Domains |
Protein: ENSMUSP00000037588 Gene: ENSMUSG00000035126
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 |
silent
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 |
possibly damaging
Transcript: ENSMUST00000106868
AA Change: D741G
PolyPhen 2
Score 0.809 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000102481 Gene: ENSMUSG00000035126 AA Change: D741G
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
|
SMART Domains |
Protein: ENSMUSP00000112018 Gene: ENSMUSG00000035126
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca6 |
A |
T |
11: 110,135,136 (GRCm39) |
D216E |
probably benign |
Het |
Abcc4 |
C |
A |
14: 118,836,753 (GRCm39) |
L669F |
probably benign |
Het |
Adam29 |
C |
T |
8: 56,324,456 (GRCm39) |
G666D |
probably damaging |
Het |
Adat2 |
T |
G |
10: 13,435,982 (GRCm39) |
M109R |
probably null |
Het |
Atf3 |
T |
A |
1: 190,903,693 (GRCm39) |
T178S |
probably benign |
Het |
Birc6 |
T |
A |
17: 74,933,998 (GRCm39) |
Y2522* |
probably null |
Het |
Ccr8 |
G |
A |
9: 119,923,691 (GRCm39) |
G269R |
probably damaging |
Het |
Ces1a |
G |
T |
8: 93,771,726 (GRCm39) |
P24T |
probably damaging |
Het |
Chrna4 |
C |
T |
2: 180,670,461 (GRCm39) |
V432I |
probably benign |
Het |
Commd8 |
A |
G |
5: 72,322,722 (GRCm39) |
V65A |
probably benign |
Het |
Cyp2j13 |
A |
G |
4: 95,965,552 (GRCm39) |
F52L |
possibly damaging |
Het |
Desi1 |
T |
A |
15: 81,886,789 (GRCm39) |
K45* |
probably null |
Het |
Dmbt1 |
T |
A |
7: 130,718,457 (GRCm39) |
M1552K |
possibly damaging |
Het |
Dna2 |
G |
A |
10: 62,791,093 (GRCm39) |
M197I |
possibly damaging |
Het |
Dnah7a |
A |
C |
1: 53,458,754 (GRCm39) |
L3795V |
probably damaging |
Het |
Fam221b |
T |
C |
4: 43,660,135 (GRCm39) |
|
probably null |
Het |
Fbxw18 |
A |
T |
9: 109,517,889 (GRCm39) |
S366T |
possibly damaging |
Het |
Fzd8 |
A |
G |
18: 9,213,293 (GRCm39) |
Y125C |
unknown |
Het |
Gcsam |
T |
C |
16: 45,436,315 (GRCm39) |
Y11H |
probably damaging |
Het |
Gucy2f |
G |
T |
X: 140,944,730 (GRCm39) |
D410E |
probably damaging |
Het |
Hdac3 |
C |
T |
18: 38,085,648 (GRCm39) |
A53T |
probably benign |
Het |
Lamp2 |
A |
G |
X: 37,520,752 (GRCm39) |
L244P |
probably damaging |
Het |
Lrrk1 |
A |
T |
7: 65,915,198 (GRCm39) |
F1630Y |
possibly damaging |
Het |
M1ap |
C |
A |
6: 83,005,393 (GRCm39) |
D434E |
probably benign |
Het |
Mcmbp |
A |
G |
7: 128,308,888 (GRCm39) |
Y378H |
probably damaging |
Het |
Mvb12a |
T |
A |
8: 71,997,946 (GRCm39) |
V120E |
probably damaging |
Het |
Nbeal2 |
A |
C |
9: 110,458,302 (GRCm39) |
W2063G |
probably damaging |
Het |
Neto1 |
A |
C |
18: 86,414,033 (GRCm39) |
H9P |
possibly damaging |
Het |
Nmu |
C |
T |
5: 76,488,668 (GRCm39) |
V126M |
probably damaging |
Het |
Odf2 |
T |
C |
2: 29,804,321 (GRCm39) |
|
probably benign |
Het |
Or2y15 |
A |
G |
11: 49,351,043 (GRCm39) |
E179G |
probably damaging |
Het |
Pdzrn3 |
T |
C |
6: 101,130,217 (GRCm39) |
H533R |
possibly damaging |
Het |
Pikfyve |
G |
T |
1: 65,298,028 (GRCm39) |
E1586* |
probably null |
Het |
Plcb3 |
C |
A |
19: 6,933,211 (GRCm39) |
R970L |
probably damaging |
Het |
Plxna3 |
A |
G |
X: 73,378,914 (GRCm39) |
E686G |
probably damaging |
Het |
Polrmt |
T |
A |
10: 79,575,985 (GRCm39) |
Y586F |
probably benign |
Het |
Ppt1 |
T |
A |
4: 122,748,218 (GRCm39) |
F225I |
probably damaging |
Het |
Prcc |
T |
G |
3: 87,779,548 (GRCm39) |
D162A |
probably damaging |
Het |
Ripor1 |
T |
C |
8: 106,346,562 (GRCm39) |
|
probably benign |
Het |
Rnaseh1 |
A |
G |
12: 28,709,008 (GRCm39) |
H263R |
probably damaging |
Het |
Rnf19b |
T |
A |
4: 128,974,211 (GRCm39) |
S490R |
probably damaging |
Het |
Slc15a2 |
T |
A |
16: 36,605,088 (GRCm39) |
T23S |
probably damaging |
Het |
Slc34a1 |
T |
C |
13: 24,003,121 (GRCm39) |
|
probably null |
Het |
Slc35f4 |
T |
C |
14: 49,536,334 (GRCm39) |
M434V |
probably benign |
Het |
Slc52a3 |
C |
T |
2: 151,846,564 (GRCm39) |
T175I |
probably benign |
Het |
Slc5a2 |
C |
T |
7: 127,869,794 (GRCm39) |
T409M |
probably benign |
Het |
Tbc1d24 |
A |
G |
17: 24,400,892 (GRCm39) |
S108P |
probably benign |
Het |
Thnsl2 |
T |
G |
6: 71,116,777 (GRCm39) |
Q125P |
probably benign |
Het |
Ttc13 |
T |
C |
8: 125,403,110 (GRCm39) |
D672G |
probably damaging |
Het |
Ttn |
G |
T |
2: 76,584,089 (GRCm39) |
H14013N |
possibly damaging |
Het |
Unc5a |
T |
C |
13: 55,152,629 (GRCm39) |
F792L |
probably damaging |
Het |
Vac14 |
T |
C |
8: 111,439,430 (GRCm39) |
V669A |
possibly damaging |
Het |
Vmn1r13 |
A |
T |
6: 57,187,314 (GRCm39) |
M158L |
probably benign |
Het |
Vmn1r220 |
A |
T |
13: 23,368,384 (GRCm39) |
V104D |
probably damaging |
Het |
Zfp738 |
A |
T |
13: 67,831,520 (GRCm39) |
|
probably null |
Het |
Zscan5b |
A |
C |
7: 6,234,421 (GRCm39) |
H149P |
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 |
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 |
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 |
2013-12-03 |