Incidental Mutation 'R5290:Dnai4'
| ID |
424641 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dnai4
|
| Ensembl Gene |
ENSMUSG00000035126 |
| Gene Name |
dynein axonemal intermediate chain 4 |
| Synonyms |
Wdr78 |
| MMRRC Submission |
042873-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.083)
|
| Stock # |
R5290 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
102895262-102971521 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 102906730 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 694
(D694E)
|
| 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: D694E
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000102481
Gene: ENSMUSG00000035126
AA Change: D694E
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
97% (70/72) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110008E08Rik |
A |
T |
16: 90,351,098 (GRCm39) |
|
noncoding transcript |
Het |
| 2700049A03Rik |
C |
A |
12: 71,235,565 (GRCm39) |
P1172T |
probably benign |
Het |
| Abi3bp |
T |
A |
16: 56,462,838 (GRCm39) |
|
probably null |
Het |
| Apod |
T |
A |
16: 31,129,884 (GRCm39) |
H24L |
probably damaging |
Het |
| Arfgef3 |
T |
C |
10: 18,476,208 (GRCm39) |
E1537G |
probably damaging |
Het |
| B020004C17Rik |
T |
C |
14: 57,254,036 (GRCm39) |
V53A |
possibly damaging |
Het |
| Ccdc113 |
C |
A |
8: 96,267,424 (GRCm39) |
|
probably null |
Het |
| Cd7 |
T |
G |
11: 120,928,936 (GRCm39) |
D105A |
probably damaging |
Het |
| Celsr3 |
C |
T |
9: 108,720,357 (GRCm39) |
T2550M |
probably benign |
Het |
| Cibar1 |
T |
C |
4: 12,171,195 (GRCm39) |
Q86R |
probably benign |
Het |
| Col6a5 |
C |
T |
9: 105,823,282 (GRCm39) |
G25D |
unknown |
Het |
| Cps1 |
A |
G |
1: 67,211,868 (GRCm39) |
M679V |
probably benign |
Het |
| Dync1h1 |
A |
T |
12: 110,581,502 (GRCm39) |
T316S |
probably benign |
Het |
| Edrf1 |
T |
C |
7: 133,252,295 (GRCm39) |
Y449H |
probably damaging |
Het |
| Fkbpl |
G |
A |
17: 34,864,303 (GRCm39) |
A24T |
probably benign |
Het |
| Flg2 |
A |
T |
3: 93,127,873 (GRCm39) |
I2262L |
unknown |
Het |
| Flnc |
T |
C |
6: 29,457,553 (GRCm39) |
L2417P |
probably damaging |
Het |
| Gabrp |
A |
T |
11: 33,517,310 (GRCm39) |
Y121N |
probably damaging |
Het |
| Gdpd4 |
A |
G |
7: 97,615,543 (GRCm39) |
T123A |
possibly damaging |
Het |
| Gpr162 |
C |
A |
6: 124,838,232 (GRCm39) |
M139I |
probably benign |
Het |
| Greb1l |
G |
A |
18: 10,542,427 (GRCm39) |
E1341K |
probably damaging |
Het |
| Gsn |
G |
A |
2: 35,186,484 (GRCm39) |
S410N |
probably benign |
Het |
| Gtf2f2 |
T |
C |
14: 76,135,089 (GRCm39) |
Y212C |
probably damaging |
Het |
| Hao2 |
C |
T |
3: 98,784,493 (GRCm39) |
A291T |
probably damaging |
Het |
| Igkv1-133 |
A |
G |
6: 67,702,563 (GRCm39) |
T94A |
possibly damaging |
Het |
| Irf2bp1 |
G |
A |
7: 18,738,923 (GRCm39) |
A188T |
possibly damaging |
Het |
| Itpr1 |
T |
C |
6: 108,383,106 (GRCm39) |
V1478A |
possibly damaging |
Het |
| Kdm5b |
T |
C |
1: 134,549,837 (GRCm39) |
|
probably null |
Het |
| Kif5b |
A |
T |
18: 6,234,882 (GRCm39) |
D49E |
probably damaging |
Het |
| Lmbr1l |
A |
G |
15: 98,810,123 (GRCm39) |
W113R |
probably damaging |
Het |
| Lrp2 |
T |
C |
2: 69,343,698 (GRCm39) |
D887G |
probably damaging |
Het |
| Lrrc14 |
T |
A |
15: 76,598,143 (GRCm39) |
M291K |
probably benign |
Het |
| Lypd11 |
T |
C |
7: 24,422,836 (GRCm39) |
E79G |
probably benign |
Het |
| Mgarp |
G |
A |
3: 51,296,387 (GRCm39) |
A205V |
possibly damaging |
Het |
| Msl2 |
T |
C |
9: 100,978,606 (GRCm39) |
|
probably null |
Het |
| Nfix |
G |
A |
8: 85,440,406 (GRCm39) |
Q487* |
probably null |
Het |
| Notch4 |
T |
C |
17: 34,784,263 (GRCm39) |
V22A |
probably benign |
Het |
| Npc1l1 |
T |
A |
11: 6,172,221 (GRCm39) |
Q823L |
probably benign |
Het |
| Obox3 |
T |
C |
7: 15,360,774 (GRCm39) |
K122E |
probably benign |
Het |
| Or10ab5 |
C |
T |
7: 108,245,755 (GRCm39) |
M9I |
probably benign |
Het |
| Or2a12 |
A |
G |
6: 42,904,972 (GRCm39) |
K269R |
probably damaging |
Het |
| Or8s10 |
T |
C |
15: 98,336,213 (GRCm39) |
Y288H |
probably damaging |
Het |
| Plekhh3 |
T |
A |
11: 101,057,397 (GRCm39) |
M287L |
possibly damaging |
Het |
| Prpf3 |
A |
T |
3: 95,760,857 (GRCm39) |
I15K |
probably benign |
Het |
| Rpl12-ps1 |
G |
T |
1: 36,997,423 (GRCm39) |
|
noncoding transcript |
Het |
| Rps8 |
G |
C |
4: 117,012,352 (GRCm39) |
|
probably benign |
Het |
| Setd2 |
T |
C |
9: 110,446,899 (GRCm39) |
V2489A |
probably damaging |
Het |
| Slfn10-ps |
T |
A |
11: 82,919,851 (GRCm39) |
|
noncoding transcript |
Het |
| Smad2 |
C |
T |
18: 76,395,795 (GRCm39) |
P78L |
probably damaging |
Het |
| Spen |
G |
A |
4: 141,201,127 (GRCm39) |
T2500I |
probably damaging |
Het |
| Stmnd1 |
A |
G |
13: 46,453,074 (GRCm39) |
D250G |
probably benign |
Het |
| Tjp2 |
T |
G |
19: 24,108,568 (GRCm39) |
E181D |
probably benign |
Het |
| Tmem131l |
T |
C |
3: 83,806,572 (GRCm39) |
D1478G |
probably benign |
Het |
| Trim72 |
G |
T |
7: 127,609,176 (GRCm39) |
R326L |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,727,584 (GRCm39) |
|
probably benign |
Het |
| Vmn1r177 |
A |
T |
7: 23,565,498 (GRCm39) |
M126K |
probably damaging |
Het |
| Vmn1r57 |
A |
G |
7: 5,224,319 (GRCm39) |
I281M |
probably damaging |
Het |
| Vmn2r108 |
C |
A |
17: 20,691,665 (GRCm39) |
R286L |
probably benign |
Het |
| Wdr25 |
T |
C |
12: 108,863,968 (GRCm39) |
S38P |
probably benign |
Het |
| Zfp937 |
T |
A |
2: 150,080,229 (GRCm39) |
Y86* |
probably null |
Het |
| Zfr2 |
CTCAGACTGGTGTCAGAC |
CTCAGAC |
10: 81,082,544 (GRCm39) |
|
probably null |
Het |
| Zswim1 |
C |
T |
2: 164,667,845 (GRCm39) |
H366Y |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTGTTTCTCCTGGAGACATC -3'
(R):5'- TATGCAATGCTCAGTGGTGC -3'
Sequencing Primer
(F):5'- TTTCTCCTGGAGACATCACTCAAAAC -3'
(R):5'- GTGCATGTGTAGCTTCTAGAAATC -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation