Incidental Mutation 'R7198:Dnai4'
| ID |
560069 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dnai4
|
| Ensembl Gene |
ENSMUSG00000035126 |
| Gene Name |
dynein axonemal intermediate chain 4 |
| Synonyms |
Wdr78 |
| MMRRC Submission |
045337-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.095)
|
| Stock # |
R7198 (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 102919610 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 498
(V498A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102481
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036451]
[ENSMUST00000036557]
[ENSMUST00000106868]
[ENSMUST00000116316]
|
| AlphaFold |
E9PYY5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000036451
AA Change: V498A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000037588
Gene: ENSMUSG00000035126
AA Change: V498A
| 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 |
possibly damaging
Transcript: ENSMUST00000036557
AA Change: V146A
PolyPhen 2
Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000042272
Gene: ENSMUSG00000035126
AA Change: V146A
| 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: V498A
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000102481
Gene: ENSMUSG00000035126
AA Change: V498A
| 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 damaging
Transcript: ENSMUST00000116316
AA Change: V498A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000112018
Gene: ENSMUSG00000035126
AA Change: V498A
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
98% (62/63) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
C |
T |
11: 109,969,481 (GRCm39) |
S365N |
probably damaging |
Het |
| Baiap3 |
G |
A |
17: 25,462,814 (GRCm39) |
R1075C |
probably benign |
Het |
| Baz2b |
A |
G |
2: 59,792,550 (GRCm39) |
L526P |
probably benign |
Het |
| Bbs1 |
A |
T |
19: 4,945,043 (GRCm39) |
L376Q |
probably damaging |
Het |
| Bcl9 |
T |
A |
3: 97,112,511 (GRCm39) |
M1315L |
possibly damaging |
Het |
| Bcl9 |
T |
C |
3: 97,116,183 (GRCm39) |
Q837R |
probably damaging |
Het |
| Cct2 |
A |
G |
10: 116,889,029 (GRCm39) |
V490A |
probably benign |
Het |
| Cdh23 |
T |
C |
10: 60,148,378 (GRCm39) |
Y2663C |
possibly damaging |
Het |
| Chit1 |
A |
G |
1: 134,078,229 (GRCm39) |
K346E |
possibly damaging |
Het |
| Chl1 |
A |
G |
6: 103,683,517 (GRCm39) |
Y781C |
probably damaging |
Het |
| Col12a1 |
A |
C |
9: 79,557,314 (GRCm39) |
L1938R |
possibly damaging |
Het |
| Cpxm2 |
T |
A |
7: 131,681,813 (GRCm39) |
N239Y |
probably damaging |
Het |
| Cyp3a41b |
A |
G |
5: 145,519,330 (GRCm39) |
Y54H |
probably benign |
Het |
| Dclk1 |
A |
C |
3: 55,385,296 (GRCm39) |
D369A |
possibly damaging |
Het |
| Dpy19l3 |
T |
C |
7: 35,449,190 (GRCm39) |
N71S |
possibly damaging |
Het |
| Efcab3 |
T |
A |
11: 104,642,711 (GRCm39) |
N1111K |
probably benign |
Het |
| Fer |
T |
A |
17: 64,228,683 (GRCm39) |
V186E |
possibly damaging |
Het |
| Gm11042 |
T |
A |
12: 74,361,888 (GRCm39) |
H39L |
unknown |
Het |
| Gm14325 |
A |
G |
2: 177,473,798 (GRCm39) |
I428T |
probably benign |
Het |
| Gm47995 |
A |
G |
1: 151,074,404 (GRCm39) |
E69G |
possibly damaging |
Het |
| Gm6176 |
T |
A |
7: 21,750,596 (GRCm39) |
I112F |
probably damaging |
Het |
| Hivep2 |
T |
A |
10: 14,005,710 (GRCm39) |
D769E |
probably benign |
Het |
| Hsdl1 |
C |
T |
8: 120,294,607 (GRCm39) |
V40I |
probably benign |
Het |
| Ipmk |
A |
G |
10: 71,183,882 (GRCm39) |
H34R |
probably damaging |
Het |
| Kcnd3 |
T |
C |
3: 105,366,856 (GRCm39) |
L242P |
probably damaging |
Het |
| Kdm4d |
T |
C |
9: 14,375,316 (GRCm39) |
M181V |
probably damaging |
Het |
| Lats2 |
A |
T |
14: 57,934,582 (GRCm39) |
I716N |
probably damaging |
Het |
| Liph |
T |
C |
16: 21,784,772 (GRCm39) |
Y305C |
probably damaging |
Het |
| Ltbp1 |
T |
C |
17: 75,533,962 (GRCm39) |
V150A |
possibly damaging |
Het |
| Ly6d |
A |
T |
15: 74,634,384 (GRCm39) |
S69T |
probably benign |
Het |
| Meltf |
A |
G |
16: 31,702,617 (GRCm39) |
R115G |
possibly damaging |
Het |
| Msgn1 |
G |
T |
12: 11,258,902 (GRCm39) |
D16E |
probably benign |
Het |
| Mthfd2l |
T |
A |
5: 91,094,705 (GRCm39) |
I58K |
probably damaging |
Het |
| Mup18 |
G |
C |
4: 61,591,573 (GRCm39) |
|
probably null |
Het |
| Nek10 |
T |
A |
14: 14,850,947 (GRCm38) |
W331R |
probably damaging |
Het |
| Nphp3 |
A |
G |
9: 103,881,974 (GRCm39) |
Y148C |
probably damaging |
Het |
| Or4a47 |
T |
C |
2: 89,666,076 (GRCm39) |
Y71C |
probably damaging |
Het |
| Or5h19 |
C |
T |
16: 58,856,456 (GRCm39) |
V215I |
probably benign |
Het |
| Or6c33 |
T |
A |
10: 129,853,760 (GRCm39) |
C177S |
probably damaging |
Het |
| Oscp1 |
A |
G |
4: 125,980,459 (GRCm39) |
T325A |
possibly damaging |
Het |
| Pcdha4 |
T |
A |
18: 37,086,613 (GRCm39) |
N265K |
probably damaging |
Het |
| Pigq |
C |
T |
17: 26,153,199 (GRCm39) |
V331I |
probably benign |
Het |
| Plekhg4 |
A |
G |
8: 106,105,329 (GRCm39) |
E598G |
probably damaging |
Het |
| Pou6f2 |
G |
A |
13: 18,303,748 (GRCm39) |
T120M |
probably damaging |
Het |
| Psg27 |
T |
A |
7: 18,295,726 (GRCm39) |
T240S |
probably damaging |
Het |
| Samd12 |
T |
A |
15: 53,723,649 (GRCm39) |
I15F |
probably damaging |
Het |
| Scaf4 |
A |
T |
16: 90,049,318 (GRCm39) |
D256E |
unknown |
Het |
| Scaf8 |
T |
A |
17: 3,213,373 (GRCm39) |
M154K |
unknown |
Het |
| Slc27a1 |
T |
C |
8: 72,032,071 (GRCm39) |
V64A |
possibly damaging |
Het |
| Smc5 |
G |
A |
19: 23,237,064 (GRCm39) |
R256* |
probably null |
Het |
| Snx31 |
A |
G |
15: 36,555,455 (GRCm39) |
F31L |
probably benign |
Het |
| Spag17 |
T |
C |
3: 100,002,888 (GRCm39) |
S1871P |
probably benign |
Het |
| Tdpoz4 |
T |
G |
3: 93,704,662 (GRCm39) |
S320A |
probably benign |
Het |
| Tmprss11c |
A |
T |
5: 86,379,691 (GRCm39) |
C406S |
probably damaging |
Het |
| Tnip1 |
G |
A |
11: 54,808,630 (GRCm39) |
A519V |
probably benign |
Het |
| Tssc4 |
T |
A |
7: 142,624,724 (GRCm39) |
|
probably null |
Het |
| Uba3 |
A |
T |
6: 97,182,512 (GRCm39) |
M1K |
probably null |
Het |
| Usp32 |
GAACAAGTCCACAACAA |
GAACAA |
11: 84,913,681 (GRCm39) |
|
probably null |
Het |
| Wnt11 |
T |
C |
7: 98,496,588 (GRCm39) |
M176T |
possibly damaging |
Het |
| Wrn |
C |
T |
8: 33,814,346 (GRCm39) |
G366D |
probably benign |
Het |
| Xylt1 |
T |
A |
7: 117,255,807 (GRCm39) |
I793N |
probably damaging |
Het |
| Zfp677 |
T |
G |
17: 21,618,679 (GRCm39) |
C579G |
probably damaging |
Het |
| Zscan4-ps1 |
T |
A |
7: 10,799,626 (GRCm39) |
K421M |
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 |
|
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'- CTCGTGGGACAAACAGTATGC -3'
(R):5'- TGTGTTTATAAAGCCAGTGAGGAC -3'
Sequencing Primer
(F):5'- CGTGGGACAAACAGTATGCTTGTG -3'
(R):5'- CATGTGCCCTAGAAGCTATGG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation