Incidental Mutation 'R9060:Dnai4'
| ID |
688915 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dnai4
|
| Ensembl Gene |
ENSMUSG00000035126 |
| Gene Name |
dynein axonemal intermediate chain 4 |
| Synonyms |
Wdr78 |
| MMRRC Submission |
068886-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.083)
|
| Stock # |
R9060 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
102895262-102971521 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 102947750 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 175
(D175E)
|
| 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: D175E
PolyPhen 2
Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000037588
Gene: ENSMUSG00000035126
AA Change: D175E
| 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: D175E
PolyPhen 2
Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000102481
Gene: ENSMUSG00000035126
AA Change: D175E
| 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: D175E
PolyPhen 2
Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000112018
Gene: ENSMUSG00000035126
AA Change: D175E
| 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
|
| Meta Mutation Damage Score |
0.1596 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
98% (54/55) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acat3 |
A |
C |
17: 13,145,293 (GRCm39) |
V295G |
|
Het |
| Agfg1 |
T |
C |
1: 82,872,254 (GRCm39) |
V529A |
possibly damaging |
Het |
| Ap1g2 |
G |
A |
14: 55,337,887 (GRCm39) |
P667L |
probably benign |
Het |
| Arhgap29 |
T |
A |
3: 121,783,973 (GRCm39) |
S176T |
probably damaging |
Het |
| Casq2 |
A |
G |
3: 102,052,619 (GRCm39) |
D377G |
unknown |
Het |
| Ccdc14 |
T |
C |
16: 34,517,486 (GRCm39) |
L104P |
probably benign |
Het |
| Cep104 |
T |
C |
4: 154,074,281 (GRCm39) |
I511T |
probably damaging |
Het |
| Cgn |
A |
G |
3: 94,687,165 (GRCm39) |
Y46H |
probably damaging |
Het |
| Cilp |
T |
C |
9: 65,186,302 (GRCm39) |
V799A |
probably benign |
Het |
| Col6a1 |
A |
G |
10: 76,557,711 (GRCm39) |
V175A |
probably benign |
Het |
| Dclk1 |
C |
A |
3: 55,163,575 (GRCm39) |
D222E |
probably benign |
Het |
| Dnah10 |
G |
T |
5: 124,905,141 (GRCm39) |
C4058F |
probably damaging |
Het |
| Elmod3 |
A |
T |
6: 72,543,790 (GRCm39) |
Y334N |
probably damaging |
Het |
| Enah |
C |
A |
1: 181,749,817 (GRCm39) |
A341S |
probably damaging |
Het |
| Eomes |
T |
C |
9: 118,311,364 (GRCm39) |
*396Q |
probably null |
Het |
| Epb41l1 |
T |
A |
2: 156,345,679 (GRCm39) |
Y227* |
probably null |
Het |
| Epha5 |
A |
T |
5: 84,218,977 (GRCm39) |
D765E |
probably benign |
Het |
| Fat3 |
T |
C |
9: 15,910,782 (GRCm39) |
N1740S |
possibly damaging |
Het |
| Fhip2a |
C |
T |
19: 57,361,450 (GRCm39) |
H125Y |
probably damaging |
Het |
| Galnt9 |
G |
A |
5: 110,737,710 (GRCm39) |
R222H |
possibly damaging |
Het |
| Gm19410 |
A |
G |
8: 36,269,480 (GRCm39) |
D1105G |
probably damaging |
Het |
| Hoxa13 |
T |
A |
6: 52,236,897 (GRCm39) |
Y121F |
probably damaging |
Het |
| Hps4 |
G |
A |
5: 112,525,905 (GRCm39) |
S642N |
possibly damaging |
Het |
| Jag1 |
T |
G |
2: 136,931,204 (GRCm39) |
T643P |
probably damaging |
Het |
| Limd1 |
T |
A |
9: 123,309,514 (GRCm39) |
S404R |
probably benign |
Het |
| Micall2 |
A |
T |
5: 139,705,035 (GRCm39) |
S100T |
probably damaging |
Het |
| Miga2 |
T |
A |
2: 30,271,735 (GRCm39) |
L419Q |
probably damaging |
Het |
| Ms4a13 |
A |
C |
19: 11,168,950 (GRCm39) |
I25S |
|
Het |
| Nnmt |
T |
C |
9: 48,503,367 (GRCm39) |
T220A |
probably benign |
Het |
| Nrg3 |
G |
A |
14: 38,734,052 (GRCm39) |
T278I |
probably damaging |
Het |
| Nup98 |
A |
G |
7: 101,783,895 (GRCm39) |
W1146R |
probably damaging |
Het |
| Or13a28 |
T |
G |
7: 140,217,695 (GRCm39) |
L27R |
|
Het |
| Or5m10 |
T |
C |
2: 85,717,920 (GRCm39) |
Y259H |
probably benign |
Het |
| Pacsin3 |
T |
C |
2: 91,091,557 (GRCm39) |
F85L |
probably benign |
Het |
| Padi4 |
T |
A |
4: 140,477,953 (GRCm39) |
D465V |
probably damaging |
Het |
| Pakap |
A |
G |
4: 57,855,412 (GRCm39) |
E247G |
probably damaging |
Het |
| Pclo |
A |
T |
5: 14,726,599 (GRCm39) |
Y1819F |
unknown |
Het |
| Pitpnm1 |
C |
A |
19: 4,156,869 (GRCm39) |
T464N |
probably damaging |
Het |
| Rnf214 |
T |
C |
9: 45,809,772 (GRCm39) |
|
probably benign |
Het |
| Rrs1 |
G |
A |
1: 9,616,677 (GRCm39) |
G310D |
probably damaging |
Het |
| Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,130 (GRCm39) |
|
probably benign |
Het |
| Slc35e3 |
A |
G |
10: 117,581,688 (GRCm39) |
|
probably null |
Het |
| Slc47a2 |
T |
C |
11: 61,227,699 (GRCm39) |
I142V |
probably benign |
Het |
| Slc8a3 |
G |
A |
12: 81,260,852 (GRCm39) |
R626C |
probably benign |
Het |
| Spart |
T |
C |
3: 55,032,275 (GRCm39) |
S370P |
probably benign |
Het |
| Spata31e1 |
G |
A |
13: 49,940,087 (GRCm39) |
S541F |
probably damaging |
Het |
| Spmap2 |
G |
T |
10: 79,420,571 (GRCm39) |
L189I |
probably damaging |
Het |
| Tle3 |
T |
A |
9: 61,282,821 (GRCm39) |
M67K |
probably damaging |
Het |
| Tmco1 |
C |
T |
1: 167,136,132 (GRCm39) |
|
probably benign |
Het |
| Ubr3 |
T |
A |
2: 69,839,489 (GRCm39) |
Y1534* |
probably null |
Het |
| Usp13 |
T |
C |
3: 32,965,812 (GRCm39) |
|
probably null |
Het |
| Vmn2r97 |
T |
C |
17: 19,134,585 (GRCm39) |
M1T |
probably null |
Het |
| Zc3h7a |
G |
A |
16: 10,969,047 (GRCm39) |
T438I |
probably damaging |
Het |
| Zfhx2 |
A |
G |
14: 55,311,803 (GRCm39) |
V297A |
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 |
|
|
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 |
|
|
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'- GCATCCGAGTCACACAACTG -3'
(R):5'- AAGAGTCTCCTGTCTCTTGGTG -3'
Sequencing Primer
(F):5'- TCCGAGTCACACAACTGAGCTATAC -3'
(R):5'- AAAATAAAGTAGCCTGATAGTAGCAG -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation