Incidental Mutation 'R8813:Dnai4'
| ID |
672546 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dnai4
|
| Ensembl Gene |
ENSMUSG00000035126 |
| Gene Name |
dynein axonemal intermediate chain 4 |
| Synonyms |
Wdr78 |
| MMRRC Submission |
068648-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.095)
|
| Stock # |
R8813 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
102895262-102971521 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 102947697 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 193
(E193G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102481
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036451]
[ENSMUST00000036557]
[ENSMUST00000106868]
[ENSMUST00000116316]
|
| AlphaFold |
E9PYY5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000036451
AA Change: E193G
PolyPhen 2
Score 0.785 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000037588
Gene: ENSMUSG00000035126
AA Change: E193G
| 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 |
possibly damaging
Transcript: ENSMUST00000106868
AA Change: E193G
PolyPhen 2
Score 0.532 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000102481
Gene: ENSMUSG00000035126
AA Change: E193G
| 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 |
possibly damaging
Transcript: ENSMUST00000116316
AA Change: E193G
PolyPhen 2
Score 0.785 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000112018
Gene: ENSMUSG00000035126
AA Change: E193G
| 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 |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| Validation Efficiency |
96% (48/50) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AA467197 |
T |
C |
2: 122,482,622 (GRCm39) |
L62P |
probably damaging |
Het |
| Amotl2 |
T |
G |
9: 102,607,291 (GRCm39) |
S700A |
probably damaging |
Het |
| Ccdc7a |
A |
G |
8: 129,549,942 (GRCm39) |
S1259P |
possibly damaging |
Het |
| Cenpj |
C |
T |
14: 56,790,355 (GRCm39) |
E565K |
probably damaging |
Het |
| Clmp |
C |
T |
9: 40,692,549 (GRCm39) |
R273* |
probably null |
Het |
| Cops7b |
A |
T |
1: 86,528,846 (GRCm39) |
Q191L |
probably benign |
Het |
| Cyp2c23 |
A |
G |
19: 44,002,054 (GRCm39) |
F312L |
probably benign |
Het |
| Dgkd |
G |
A |
1: 87,843,266 (GRCm39) |
C169Y |
probably damaging |
Het |
| Dlec1 |
A |
T |
9: 118,956,498 (GRCm39) |
N724I |
probably benign |
Het |
| Dmxl1 |
T |
C |
18: 50,090,406 (GRCm39) |
V2831A |
probably damaging |
Het |
| Dnah5 |
G |
T |
15: 28,229,719 (GRCm39) |
G118W |
probably damaging |
Het |
| Dnah6 |
G |
T |
6: 73,104,937 (GRCm39) |
T1884K |
probably damaging |
Het |
| Efnb2 |
T |
A |
8: 8,670,731 (GRCm39) |
S290C |
probably damaging |
Het |
| Eif1ad6 |
A |
G |
12: 87,668,593 (GRCm39) |
D75G |
probably damaging |
Het |
| Eif2ak4 |
C |
A |
2: 118,278,806 (GRCm39) |
T990K |
probably damaging |
Het |
| Erich3 |
A |
G |
3: 154,468,827 (GRCm39) |
D1093G |
unknown |
Het |
| H2-DMa |
T |
C |
17: 34,354,734 (GRCm39) |
|
probably benign |
Het |
| Habp2 |
G |
A |
19: 56,295,216 (GRCm39) |
D36N |
probably benign |
Het |
| Kcnk13 |
G |
T |
12: 100,027,647 (GRCm39) |
G241W |
probably damaging |
Het |
| Kdm6b |
GGGTGGTGGTGGTGGTGG |
GGGTGGTGGTGGTGGTGGTGG |
11: 69,297,655 (GRCm39) |
|
probably benign |
Het |
| Kdm6b |
TGG |
TGGGGG |
11: 69,297,658 (GRCm39) |
|
probably benign |
Het |
| Klk1b5 |
G |
T |
7: 43,496,549 (GRCm39) |
M160I |
probably benign |
Het |
| Lonp2 |
A |
G |
8: 87,358,073 (GRCm39) |
Y98C |
probably damaging |
Het |
| Marcksl1 |
C |
T |
4: 129,408,999 (GRCm39) |
P193S |
probably benign |
Het |
| Nup133 |
AAGAGA |
AAGA |
8: 124,638,627 (GRCm39) |
900 |
probably null |
Het |
| Nxf7 |
G |
A |
X: 134,484,515 (GRCm39) |
R513C |
possibly damaging |
Het |
| Or13a19 |
C |
A |
7: 139,902,793 (GRCm39) |
Y60* |
probably null |
Het |
| Or4a73 |
A |
T |
2: 89,420,730 (GRCm39) |
M243K |
probably benign |
Het |
| Or52e5 |
T |
A |
7: 104,719,518 (GRCm39) |
Y281* |
probably null |
Het |
| Or7g32 |
T |
G |
9: 19,389,477 (GRCm39) |
D23A |
possibly damaging |
Het |
| Or7g34 |
A |
T |
9: 19,477,895 (GRCm39) |
Y262N |
probably damaging |
Het |
| Otof |
T |
A |
5: 30,540,242 (GRCm39) |
M965L |
probably benign |
Het |
| Parp12 |
A |
G |
6: 39,073,508 (GRCm39) |
F439S |
probably damaging |
Het |
| Pde1a |
G |
A |
2: 79,959,261 (GRCm39) |
|
probably benign |
Het |
| Pramel22 |
T |
A |
4: 143,380,913 (GRCm39) |
N370I |
probably damaging |
Het |
| Prrc2c |
T |
C |
1: 162,532,812 (GRCm39) |
N1268D |
unknown |
Het |
| Pter |
T |
C |
2: 12,985,114 (GRCm39) |
V148A |
probably benign |
Het |
| Rb1 |
A |
G |
14: 73,500,027 (GRCm39) |
M540T |
probably damaging |
Het |
| Rnasel |
T |
A |
1: 153,629,641 (GRCm39) |
N52K |
probably damaging |
Het |
| Rragd |
A |
T |
4: 33,012,953 (GRCm39) |
I317F |
possibly damaging |
Het |
| Sla |
G |
T |
15: 66,664,127 (GRCm39) |
S81R |
probably benign |
Het |
| T |
A |
G |
17: 8,653,532 (GRCm39) |
E57G |
probably benign |
Het |
| Tanc1 |
T |
A |
2: 59,630,265 (GRCm39) |
F748L |
probably damaging |
Het |
| Tnxb |
T |
A |
17: 34,938,136 (GRCm39) |
W3073R |
probably damaging |
Het |
| Trim33 |
A |
G |
3: 103,254,052 (GRCm39) |
T967A |
probably benign |
Het |
| Tro |
G |
A |
X: 149,438,555 (GRCm39) |
S34L |
unknown |
Het |
| Trpm1 |
T |
A |
7: 63,851,756 (GRCm39) |
M158K |
possibly damaging |
Het |
| Vmn1r205 |
A |
G |
13: 22,776,424 (GRCm39) |
L226P |
probably benign |
Het |
| Vmn1r56 |
C |
T |
7: 5,198,733 (GRCm39) |
V295M |
probably damaging |
Het |
| Vps13c |
A |
G |
9: 67,778,566 (GRCm39) |
D208G |
probably damaging |
Het |
| Zfp11 |
T |
C |
5: 129,735,278 (GRCm39) |
D61G |
probably benign |
Het |
| Zscan4e |
C |
A |
7: 11,041,540 (GRCm39) |
E139* |
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 |
|
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 |
|
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'- TGTCCTGTGATGTAGATAATGTCC -3'
(R):5'- GCTGCTCTCACAGAGGTTAAATAG -3'
Sequencing Primer
(F):5'- GAGATTTCTAGAAGTCTCCAAGGCTC -3'
(R):5'- CTCACAGAGGTTAAATAGACACTTGC -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation