Incidental Mutation 'R9132:Dnai4'
| ID |
693694 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dnai4
|
| Ensembl Gene |
ENSMUSG00000035126 |
| Gene Name |
dynein axonemal intermediate chain 4 |
| Synonyms |
Wdr78 |
| MMRRC Submission |
068929-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.095)
|
| Stock # |
R9132 (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 G
at 102916930 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 592
(M592T)
|
| 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 damaging
Transcript: ENSMUST00000036557
AA Change: M240T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000042272
Gene: ENSMUSG00000035126
AA Change: M240T
| 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 damaging
Transcript: ENSMUST00000106868
AA Change: M592T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000102481
Gene: ENSMUSG00000035126
AA Change: M592T
| 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 |
|
| Meta Mutation Damage Score |
0.2902 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
97% (65/67) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AC133488.1 |
A |
T |
16: 18,440,075 (GRCm39) |
V363E |
probably benign |
Het |
| Adamts16 |
A |
G |
13: 70,901,408 (GRCm39) |
S890P |
probably benign |
Het |
| Amd1 |
A |
G |
10: 40,169,158 (GRCm39) |
|
probably null |
Het |
| Apcs |
A |
G |
1: 172,722,061 (GRCm39) |
I95T |
probably damaging |
Het |
| Arhgap18 |
A |
G |
10: 26,730,886 (GRCm39) |
D188G |
probably benign |
Het |
| Arhgap42 |
C |
T |
9: 9,011,419 (GRCm39) |
V456M |
probably damaging |
Het |
| Atp2a2 |
T |
C |
5: 122,599,633 (GRCm39) |
Y586C |
probably damaging |
Het |
| Cbr1 |
G |
C |
16: 93,406,794 (GRCm39) |
G170A |
probably benign |
Het |
| Cdh23 |
T |
A |
10: 60,270,283 (GRCm39) |
|
probably benign |
Het |
| Cfap53 |
T |
A |
18: 74,416,272 (GRCm39) |
Y2N |
probably damaging |
Het |
| Clcn3 |
A |
G |
8: 61,382,136 (GRCm39) |
I511T |
probably damaging |
Het |
| Col28a1 |
T |
A |
6: 8,014,993 (GRCm39) |
D804V |
probably damaging |
Het |
| Csmd2 |
A |
G |
4: 128,443,007 (GRCm39) |
T3253A |
|
Het |
| Csta3 |
G |
A |
16: 36,038,069 (GRCm39) |
V69I |
probably benign |
Het |
| Cyp2c40 |
A |
T |
19: 39,762,317 (GRCm39) |
D443E |
probably damaging |
Het |
| Cyp7b1 |
A |
G |
3: 18,151,476 (GRCm39) |
C246R |
probably benign |
Het |
| Dmxl1 |
C |
G |
18: 50,072,639 (GRCm39) |
N2744K |
probably damaging |
Het |
| Dpyd |
T |
A |
3: 118,710,897 (GRCm39) |
I435N |
probably damaging |
Het |
| Fat2 |
A |
T |
11: 55,189,436 (GRCm39) |
L1194Q |
possibly damaging |
Het |
| Firrm |
A |
G |
1: 163,814,514 (GRCm39) |
I143T |
probably damaging |
Het |
| Gabrg1 |
A |
T |
5: 70,939,622 (GRCm39) |
I170N |
possibly damaging |
Het |
| Gon4l |
C |
T |
3: 88,815,484 (GRCm39) |
P2016S |
probably benign |
Het |
| Hax1 |
T |
C |
3: 89,903,127 (GRCm39) |
R251G |
probably damaging |
Het |
| Hbq1b |
A |
T |
11: 32,237,228 (GRCm39) |
K41* |
probably null |
Het |
| Ido2 |
G |
A |
8: 25,023,933 (GRCm39) |
P302S |
probably damaging |
Het |
| Igf2bp2 |
G |
A |
16: 21,900,502 (GRCm39) |
T213I |
probably damaging |
Het |
| Itga2 |
A |
T |
13: 115,014,298 (GRCm39) |
L210* |
probably null |
Het |
| Kdm1b |
G |
A |
13: 47,225,458 (GRCm39) |
S547N |
probably benign |
Het |
| Ltbp2 |
G |
A |
12: 84,837,864 (GRCm39) |
P1192L |
probably benign |
Het |
| Lyz2 |
A |
T |
10: 117,116,562 (GRCm39) |
C95* |
probably null |
Het |
| Mafa |
A |
T |
15: 75,619,048 (GRCm39) |
S242T |
possibly damaging |
Het |
| Mapk1 |
T |
C |
16: 16,856,300 (GRCm39) |
|
probably null |
Het |
| Mta1 |
T |
A |
12: 113,100,025 (GRCm39) |
V645E |
probably damaging |
Het |
| Muc5ac |
T |
C |
7: 141,363,529 (GRCm39) |
I2280T |
unknown |
Het |
| Naa35 |
T |
C |
13: 59,772,341 (GRCm39) |
I438T |
possibly damaging |
Het |
| Necab2 |
T |
C |
8: 120,189,303 (GRCm39) |
Y158H |
probably damaging |
Het |
| Nphp3 |
T |
A |
9: 103,897,980 (GRCm39) |
L523Q |
probably damaging |
Het |
| Ogdh |
A |
T |
11: 6,290,488 (GRCm39) |
I369F |
probably benign |
Het |
| Pglyrp4 |
C |
T |
3: 90,635,238 (GRCm39) |
Q28* |
probably null |
Het |
| Pla2g4a |
C |
T |
1: 149,747,230 (GRCm39) |
V319I |
probably benign |
Het |
| Plk3 |
ACACTCAC |
ACAC |
4: 116,989,090 (GRCm39) |
|
probably benign |
Het |
| Prdm6 |
C |
A |
18: 53,598,019 (GRCm39) |
A127D |
unknown |
Het |
| Prop1 |
T |
G |
11: 50,843,037 (GRCm39) |
E50A |
|
Het |
| Ripk1 |
A |
G |
13: 34,212,184 (GRCm39) |
N498S |
probably benign |
Het |
| Rnf213 |
A |
G |
11: 119,374,742 (GRCm39) |
N5069S |
|
Het |
| Saa3 |
T |
C |
7: 46,362,121 (GRCm39) |
D41G |
probably damaging |
Het |
| Setd2 |
T |
C |
9: 110,374,385 (GRCm39) |
|
probably null |
Het |
| Shbg |
G |
A |
11: 69,506,430 (GRCm39) |
L327F |
probably benign |
Het |
| Slc12a5 |
G |
A |
2: 164,835,876 (GRCm39) |
|
probably benign |
Het |
| Slc1a4 |
C |
T |
11: 20,258,527 (GRCm39) |
G304D |
probably damaging |
Het |
| Slf1 |
T |
C |
13: 77,249,073 (GRCm39) |
K372E |
probably benign |
Het |
| Smad2 |
T |
A |
18: 76,395,573 (GRCm39) |
I4N |
possibly damaging |
Het |
| Smad6 |
A |
C |
9: 63,914,870 (GRCm39) |
S300A |
probably benign |
Het |
| Spata31h1 |
T |
C |
10: 82,127,896 (GRCm39) |
T1705A |
possibly damaging |
Het |
| Spem2 |
T |
A |
11: 69,707,414 (GRCm39) |
|
probably benign |
Het |
| Syde1 |
T |
C |
10: 78,425,340 (GRCm39) |
S224G |
probably benign |
Het |
| Tacc1 |
A |
T |
8: 25,672,151 (GRCm39) |
V359E |
possibly damaging |
Het |
| Tex15 |
T |
G |
8: 34,067,554 (GRCm39) |
V2328G |
possibly damaging |
Het |
| Tmem43 |
A |
C |
6: 91,459,291 (GRCm39) |
D254A |
probably benign |
Het |
| Trav6d-3 |
T |
A |
14: 52,964,210 (GRCm39) |
Y58N |
possibly damaging |
Het |
| Trrap |
A |
G |
5: 144,726,362 (GRCm39) |
E437G |
probably benign |
Het |
| Wars1 |
A |
G |
12: 108,827,199 (GRCm39) |
F474L |
probably benign |
Het |
| Zfp169 |
T |
C |
13: 48,644,557 (GRCm39) |
E190G |
unknown |
Het |
| Zfp541 |
T |
A |
7: 15,816,966 (GRCm39) |
V918D |
probably benign |
Het |
| Zfp747 |
T |
C |
7: 126,974,922 (GRCm39) |
D26G |
probably 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 |
|
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 |
|
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'- TGGCGTGTATGAATCACAAACTG -3'
(R):5'- ATCAGCCGATGGAAGGATCTCC -3'
Sequencing Primer
(F):5'- TCACAAACTGCACCTCAATATTTGG -3'
(R):5'- GATCTCCAAGTGGATCATCCG -3'
|
| Posted On |
2022-01-20 |
Incidental Mutation