Incidental Mutation 'R5975:Dnai4'
| ID |
471672 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R5975 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
102895262-102971521 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 102906786 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 676
(P676S)
|
| 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 |
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: P676S
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000102481
Gene: ENSMUSG00000035126
AA Change: P676S
| 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
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.3%
|
| Validation Efficiency |
98% (80/82) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9430038I01Rik |
T |
C |
7: 136,989,021 (GRCm39) |
|
probably benign |
Het |
| Abhd14a |
A |
T |
9: 106,321,150 (GRCm39) |
|
probably null |
Het |
| Actn2 |
T |
C |
13: 12,355,378 (GRCm39) |
N2D |
probably benign |
Het |
| Adcy9 |
T |
C |
16: 4,129,431 (GRCm39) |
E722G |
probably damaging |
Het |
| Alox12 |
C |
A |
11: 70,133,609 (GRCm39) |
V572L |
possibly damaging |
Het |
| Ankrd11 |
T |
C |
8: 123,616,488 (GRCm39) |
I2434V |
possibly damaging |
Het |
| Anks1 |
T |
A |
17: 28,210,421 (GRCm39) |
|
probably null |
Het |
| Bltp1 |
C |
T |
3: 37,023,370 (GRCm39) |
T2233I |
possibly damaging |
Het |
| Bpifa3 |
T |
A |
2: 153,978,241 (GRCm39) |
S148T |
probably damaging |
Het |
| Bptf |
C |
T |
11: 106,926,690 (GRCm39) |
|
probably benign |
Het |
| Cabin1 |
A |
T |
10: 75,493,673 (GRCm39) |
L1655H |
probably damaging |
Het |
| Ccdc13 |
G |
T |
9: 121,656,301 (GRCm39) |
Q171K |
probably benign |
Het |
| Ccdc33 |
T |
A |
9: 58,024,761 (GRCm39) |
Q155L |
possibly damaging |
Het |
| Cckbr |
G |
A |
7: 105,119,826 (GRCm39) |
G280E |
probably benign |
Het |
| Cdk11b |
G |
A |
4: 155,732,697 (GRCm39) |
|
probably benign |
Het |
| Celsr1 |
G |
T |
15: 85,803,239 (GRCm39) |
|
probably null |
Het |
| Cenpj |
A |
T |
14: 56,801,523 (GRCm39) |
I150N |
possibly damaging |
Het |
| Cep135 |
C |
A |
5: 76,788,737 (GRCm39) |
A1110E |
possibly damaging |
Het |
| Chit1 |
C |
A |
1: 134,074,364 (GRCm39) |
H224N |
probably damaging |
Het |
| Cul5 |
T |
C |
9: 53,534,093 (GRCm39) |
R680G |
probably damaging |
Het |
| Dhx58 |
C |
A |
11: 100,593,035 (GRCm39) |
R224L |
probably damaging |
Het |
| Dlx1 |
C |
A |
2: 71,361,353 (GRCm39) |
N122K |
probably damaging |
Het |
| Dnah5 |
A |
C |
15: 28,234,428 (GRCm39) |
D279A |
probably damaging |
Het |
| Efcab3 |
A |
G |
11: 104,578,375 (GRCm39) |
|
probably benign |
Het |
| Enpp3 |
A |
G |
10: 24,650,740 (GRCm39) |
W799R |
probably benign |
Het |
| Ercc5 |
A |
G |
1: 44,212,566 (GRCm39) |
T675A |
probably benign |
Het |
| Farsa |
T |
A |
8: 85,591,061 (GRCm39) |
|
probably null |
Het |
| Fbxw15 |
A |
T |
9: 109,384,320 (GRCm39) |
V397D |
probably damaging |
Het |
| Fcrl5 |
G |
A |
3: 87,349,410 (GRCm39) |
V62I |
probably benign |
Het |
| Gart |
A |
G |
16: 91,421,224 (GRCm39) |
S815P |
probably damaging |
Het |
| Glrx5 |
A |
G |
12: 105,006,582 (GRCm39) |
N111S |
possibly damaging |
Het |
| Gm10845 |
A |
G |
14: 80,100,614 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9925 |
T |
A |
18: 74,198,587 (GRCm39) |
|
probably benign |
Het |
| Gsdme |
T |
C |
6: 50,204,339 (GRCm39) |
N206S |
probably benign |
Het |
| Helz2 |
T |
C |
2: 180,872,843 (GRCm39) |
S2459G |
probably benign |
Het |
| Hnrnpul1 |
A |
G |
7: 25,453,784 (GRCm39) |
S93P |
possibly damaging |
Het |
| Ints2 |
A |
T |
11: 86,117,574 (GRCm39) |
I716N |
possibly damaging |
Het |
| Lmnb2 |
G |
A |
10: 80,740,962 (GRCm39) |
Q248* |
probably null |
Het |
| Map3k7cl |
A |
G |
16: 87,367,209 (GRCm39) |
I32V |
probably benign |
Het |
| Mfsd4b4 |
A |
T |
10: 39,768,466 (GRCm39) |
I255N |
probably benign |
Het |
| Myh6 |
A |
G |
14: 55,187,965 (GRCm39) |
I1163T |
probably benign |
Het |
| Nphs1 |
A |
T |
7: 30,165,540 (GRCm39) |
T636S |
possibly damaging |
Het |
| Ntsr1 |
T |
A |
2: 180,142,581 (GRCm39) |
L124Q |
probably damaging |
Het |
| Obscn |
C |
T |
11: 59,013,445 (GRCm39) |
|
probably null |
Het |
| P4ha2 |
G |
A |
11: 54,017,238 (GRCm39) |
|
probably null |
Het |
| Pcdha9 |
T |
A |
18: 37,132,164 (GRCm39) |
V411D |
probably benign |
Het |
| Pkhd1l1 |
A |
T |
15: 44,389,384 (GRCm39) |
I1380F |
probably damaging |
Het |
| Plekha1 |
T |
C |
7: 130,493,983 (GRCm39) |
V106A |
probably benign |
Het |
| Plekhm1 |
A |
T |
11: 103,267,517 (GRCm39) |
V818E |
possibly damaging |
Het |
| Pprc1 |
T |
G |
19: 46,053,809 (GRCm39) |
|
probably benign |
Het |
| Prb1c |
A |
G |
6: 132,339,036 (GRCm39) |
S61P |
unknown |
Het |
| Prmt9 |
T |
C |
8: 78,287,647 (GRCm39) |
|
probably benign |
Het |
| Rab26 |
T |
C |
17: 24,749,373 (GRCm39) |
N193D |
possibly damaging |
Het |
| Rnf111 |
A |
G |
9: 70,336,862 (GRCm39) |
S942P |
probably damaging |
Het |
| Scgb2b18 |
T |
C |
7: 32,872,650 (GRCm39) |
T52A |
probably damaging |
Het |
| Syt3 |
C |
T |
7: 44,042,187 (GRCm39) |
Q349* |
probably null |
Het |
| Tas2r107 |
T |
C |
6: 131,636,743 (GRCm39) |
N102S |
probably benign |
Het |
| Tas2r126 |
T |
A |
6: 42,411,934 (GRCm39) |
Y156N |
possibly damaging |
Het |
| Tcaf2 |
A |
T |
6: 42,619,712 (GRCm39) |
I105N |
probably benign |
Het |
| Tet1 |
A |
C |
10: 62,715,552 (GRCm39) |
M81R |
probably benign |
Het |
| Togaram2 |
T |
C |
17: 72,036,200 (GRCm39) |
Y897H |
probably damaging |
Het |
| Trerf1 |
A |
T |
17: 47,625,197 (GRCm39) |
|
noncoding transcript |
Het |
| Ttn |
G |
A |
2: 76,591,579 (GRCm39) |
T12703I |
probably damaging |
Het |
| Unc79 |
A |
G |
12: 103,091,885 (GRCm39) |
K1735E |
possibly damaging |
Het |
| Usp54 |
G |
A |
14: 20,633,419 (GRCm39) |
T372I |
possibly damaging |
Het |
| Wdr24 |
T |
C |
17: 26,046,102 (GRCm39) |
S476P |
probably benign |
Het |
| Zbtb1 |
T |
C |
12: 76,433,049 (GRCm39) |
I345T |
possibly damaging |
Het |
| Zcrb1 |
T |
A |
15: 93,293,496 (GRCm39) |
I29L |
probably benign |
Het |
| Zfp341 |
T |
A |
2: 154,472,361 (GRCm39) |
C315S |
probably damaging |
Het |
| Zfp623 |
C |
A |
15: 75,820,012 (GRCm39) |
R323S |
probably benign |
Het |
| Zfp831 |
T |
A |
2: 174,485,885 (GRCm39) |
Y187N |
possibly damaging |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTTACGTGCTGATCTGAAGG -3'
(R):5'- GGAAGAGTCCATGTGAGGTC -3'
Sequencing Primer
(F):5'- GTGCTGATCTGAAGGTCCCAAATC -3'
(R):5'- GTCTTGTTTTCAGTTAAAGCAGTTCC -3'
|
| Posted On |
2017-03-31 |
Incidental Mutation