Incidental Mutation 'R0164:Axdnd1'
| ID |
24309 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Axdnd1
|
| Ensembl Gene |
ENSMUSG00000026601 |
| Gene Name |
axonemal dynein light chain domain containing 1 |
| Synonyms |
LOC381304, 9430070O13Rik |
| MMRRC Submission |
038440-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.128)
|
| Stock # |
R0164 (G1)
|
| Quality Score |
171 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
156323509-156421159 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 156378386 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 520
(E520G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148420
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000177824]
[ENSMUST00000178036]
[ENSMUST00000213088]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000027895
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177824
AA Change: E455G
PolyPhen 2
Score 0.294 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000135900
Gene: ENSMUSG00000026601
AA Change: E455G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ax_dynein_light
|
131 |
314 |
2.4e-12 |
PFAM |
|
low complexity region
|
405 |
414 |
N/A |
INTRINSIC |
|
low complexity region
|
452 |
464 |
N/A |
INTRINSIC |
|
low complexity region
|
666 |
677 |
N/A |
INTRINSIC |
|
coiled coil region
|
787 |
837 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000178036
AA Change: E520G
PolyPhen 2
Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000137354
Gene: ENSMUSG00000026601
AA Change: E520G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ax_dynein_light
|
196 |
380 |
3.3e-14 |
PFAM |
|
low complexity region
|
470 |
479 |
N/A |
INTRINSIC |
|
low complexity region
|
517 |
529 |
N/A |
INTRINSIC |
|
low complexity region
|
731 |
742 |
N/A |
INTRINSIC |
|
coiled coil region
|
889 |
939 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000179572
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000180173
AA Change: E323G
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000213088
AA Change: E520G
PolyPhen 2
Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.5%
|
| Validation Efficiency |
69% (18/26) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2010315B03Rik |
T |
C |
9: 124,295,159 (GRCm38) |
|
probably benign |
Het |
| 4930522L14Rik |
T |
C |
5: 109,736,847 (GRCm38) |
K382E |
probably damaging |
Het |
| Adck1 |
A |
G |
12: 88,455,510 (GRCm38) |
E297G |
probably damaging |
Het |
| Aldh3a2 |
C |
T |
11: 61,248,888 (GRCm38) |
V473I |
probably benign |
Het |
| Arfgef3 |
A |
T |
10: 18,647,915 (GRCm38) |
I369K |
possibly damaging |
Het |
| Atp1b3 |
T |
C |
9: 96,338,709 (GRCm38) |
I178V |
possibly damaging |
Het |
| BB019430 |
A |
T |
10: 58,704,271 (GRCm38) |
|
noncoding transcript |
Het |
| Btbd1 |
T |
A |
7: 81,801,003 (GRCm38) |
Q343L |
probably benign |
Het |
| Catsper1 |
A |
G |
19: 5,339,475 (GRCm38) |
T473A |
possibly damaging |
Het |
| Chmp6 |
G |
A |
11: 119,915,523 (GRCm38) |
|
probably null |
Het |
| D130040H23Rik |
T |
C |
8: 69,302,543 (GRCm38) |
V200A |
possibly damaging |
Het |
| D830013O20Rik |
C |
T |
12: 73,364,331 (GRCm38) |
|
noncoding transcript |
Het |
| Dcaf1 |
T |
A |
9: 106,844,145 (GRCm38) |
S379T |
possibly damaging |
Het |
| Dhx58 |
T |
C |
11: 100,695,324 (GRCm38) |
I624V |
probably benign |
Het |
| Disp3 |
T |
C |
4: 148,254,251 (GRCm38) |
E821G |
probably damaging |
Het |
| Dlc1 |
T |
A |
8: 36,599,440 (GRCm38) |
E464V |
probably damaging |
Het |
| Dnah10 |
G |
A |
5: 124,783,834 (GRCm38) |
V2151I |
probably damaging |
Het |
| Dnah8 |
G |
A |
17: 30,748,665 (GRCm38) |
G2617D |
probably benign |
Het |
| Dnah9 |
C |
A |
11: 65,918,804 (GRCm38) |
E872* |
probably null |
Het |
| Dock9 |
T |
C |
14: 121,597,665 (GRCm38) |
Y99C |
probably damaging |
Het |
| Dpy19l3 |
T |
A |
7: 35,716,646 (GRCm38) |
I310F |
probably damaging |
Het |
| Fggy |
A |
T |
4: 95,837,654 (GRCm38) |
I137F |
probably damaging |
Het |
| Gm14012 |
C |
T |
2: 128,238,016 (GRCm38) |
|
noncoding transcript |
Het |
| Gm14421 |
A |
T |
2: 177,056,722 (GRCm38) |
|
noncoding transcript |
Het |
| Gm5689 |
T |
A |
18: 42,173,543 (GRCm38) |
D58E |
probably damaging |
Het |
| Grin2a |
A |
G |
16: 9,994,821 (GRCm38) |
|
probably null |
Het |
| Incenp |
A |
G |
19: 9,894,879 (GRCm38) |
S72P |
probably benign |
Het |
| Klc3 |
T |
A |
7: 19,394,926 (GRCm38) |
N469Y |
possibly damaging |
Het |
| Lrrc42 |
A |
G |
4: 107,247,505 (GRCm38) |
S88P |
probably benign |
Het |
| Lrrc49 |
G |
A |
9: 60,680,600 (GRCm38) |
T93I |
probably benign |
Het |
| Mlycd |
A |
T |
8: 119,407,641 (GRCm38) |
Q294L |
probably damaging |
Het |
| Mrpl22 |
T |
A |
11: 58,171,821 (GRCm38) |
I19N |
probably benign |
Het |
| Msh3 |
T |
A |
13: 92,349,209 (GRCm38) |
K202N |
probably damaging |
Het |
| Mucl2 |
C |
T |
15: 103,899,179 (GRCm38) |
|
probably null |
Het |
| Ncam1 |
C |
T |
9: 49,568,409 (GRCm38) |
D90N |
probably damaging |
Het |
| Nckap5 |
A |
T |
1: 126,024,407 (GRCm38) |
D1405E |
possibly damaging |
Het |
| Ncoa2 |
A |
G |
1: 13,186,731 (GRCm38) |
|
probably null |
Het |
| Nlrp1b |
A |
T |
11: 71,164,099 (GRCm38) |
W844R |
probably damaging |
Het |
| Nmnat1 |
G |
T |
4: 149,469,150 (GRCm38) |
N168K |
possibly damaging |
Het |
| Olfr1446 |
A |
G |
19: 12,890,445 (GRCm38) |
L44P |
probably damaging |
Het |
| Ost4 |
T |
C |
5: 30,907,459 (GRCm38) |
H26R |
probably damaging |
Het |
| Otog |
G |
A |
7: 46,304,231 (GRCm38) |
V2638M |
probably damaging |
Het |
| Otogl |
A |
T |
10: 107,874,530 (GRCm38) |
I566N |
probably damaging |
Het |
| Pcyt1a |
T |
C |
16: 32,470,186 (GRCm38) |
S282P |
probably damaging |
Het |
| Prkcg |
G |
A |
7: 3,329,119 (GRCm38) |
E581K |
probably damaging |
Het |
| Ralgps2 |
A |
G |
1: 156,887,089 (GRCm38) |
|
probably null |
Het |
| Scmh1 |
T |
C |
4: 120,529,865 (GRCm38) |
|
probably benign |
Het |
| Sgo2b |
T |
C |
8: 63,938,383 (GRCm38) |
H150R |
possibly damaging |
Het |
| Sh2b3 |
T |
G |
5: 121,829,037 (GRCm38) |
T5P |
probably damaging |
Het |
| Tdp2 |
A |
G |
13: 24,838,239 (GRCm38) |
M214V |
probably damaging |
Het |
| Tmem204 |
A |
G |
17: 25,058,350 (GRCm38) |
I187T |
probably damaging |
Het |
| Tmem208 |
T |
G |
8: 105,334,694 (GRCm38) |
D117E |
probably benign |
Het |
| Tnks1bp1 |
C |
T |
2: 85,059,221 (GRCm38) |
P631S |
possibly damaging |
Het |
| Tomm70a |
T |
C |
16: 57,147,821 (GRCm38) |
V517A |
probably damaging |
Het |
| Ttc7 |
T |
C |
17: 87,379,895 (GRCm38) |
V801A |
probably damaging |
Het |
| Txndc5 |
A |
T |
13: 38,507,953 (GRCm38) |
C146S |
probably damaging |
Het |
| Ube4b |
G |
T |
4: 149,360,324 (GRCm38) |
T493K |
probably damaging |
Het |
| Ufl1 |
A |
T |
4: 25,256,008 (GRCm38) |
Y504N |
probably benign |
Het |
| Ulk3 |
T |
A |
9: 57,590,686 (GRCm38) |
I90N |
probably damaging |
Het |
| Unc13c |
T |
C |
9: 73,694,892 (GRCm38) |
I1357M |
probably benign |
Het |
| Vmn1r28 |
G |
A |
6: 58,265,717 (GRCm38) |
A182T |
probably benign |
Het |
| Vmn2r91 |
A |
C |
17: 18,106,137 (GRCm38) |
N228T |
probably benign |
Het |
| Wisp1 |
T |
C |
15: 66,919,210 (GRCm38) |
L287P |
probably damaging |
Het |
| Zbtb6 |
G |
T |
2: 37,429,588 (GRCm38) |
Y109* |
probably null |
Het |
| Zfp640 |
C |
A |
13: 66,670,974 (GRCm38) |
|
noncoding transcript |
Het |
| Zfp640 |
G |
T |
13: 66,670,998 (GRCm38) |
|
noncoding transcript |
Het |
| Zfp980 |
A |
G |
4: 145,701,997 (GRCm38) |
D432G |
probably benign |
Het |
|
| Other mutations in Axdnd1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03058:Axdnd1
|
APN |
1 |
156,376,663 (GRCm38) |
missense |
probably benign |
0.41 |
|
IGL03075:Axdnd1
|
APN |
1 |
156,395,442 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03165:Axdnd1
|
APN |
1 |
156,378,389 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0164:Axdnd1
|
UTSW |
1 |
156,378,386 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R0739:Axdnd1
|
UTSW |
1 |
156,380,886 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
R1087:Axdnd1
|
UTSW |
1 |
156,365,689 (GRCm38) |
missense |
probably benign |
0.08 |
|
R1350:Axdnd1
|
UTSW |
1 |
156,378,380 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1488:Axdnd1
|
UTSW |
1 |
156,348,960 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1493:Axdnd1
|
UTSW |
1 |
156,346,701 (GRCm38) |
missense |
probably benign |
0.03 |
|
R1845:Axdnd1
|
UTSW |
1 |
156,376,544 (GRCm38) |
missense |
possibly damaging |
0.58 |
|
R1900:Axdnd1
|
UTSW |
1 |
156,380,774 (GRCm38) |
splice site |
probably null |
|
|
R2126:Axdnd1
|
UTSW |
1 |
156,333,214 (GRCm38) |
missense |
probably benign |
0.03 |
|
R2163:Axdnd1
|
UTSW |
1 |
156,392,003 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2169:Axdnd1
|
UTSW |
1 |
156,418,309 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2380:Axdnd1
|
UTSW |
1 |
156,365,651 (GRCm38) |
missense |
probably benign |
0.02 |
|
R2568:Axdnd1
|
UTSW |
1 |
156,392,749 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R3052:Axdnd1
|
UTSW |
1 |
156,341,870 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R3053:Axdnd1
|
UTSW |
1 |
156,341,870 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R3767:Axdnd1
|
UTSW |
1 |
156,380,858 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3927:Axdnd1
|
UTSW |
1 |
156,419,270 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3936:Axdnd1
|
UTSW |
1 |
156,331,639 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4829:Axdnd1
|
UTSW |
1 |
156,376,646 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R4882:Axdnd1
|
UTSW |
1 |
156,395,559 (GRCm38) |
splice site |
probably null |
|
|
R4969:Axdnd1
|
UTSW |
1 |
156,395,505 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R5091:Axdnd1
|
UTSW |
1 |
156,420,410 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R5510:Axdnd1
|
UTSW |
1 |
156,335,350 (GRCm38) |
missense |
probably benign |
0.03 |
|
R5549:Axdnd1
|
UTSW |
1 |
156,398,534 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5587:Axdnd1
|
UTSW |
1 |
156,351,412 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5792:Axdnd1
|
UTSW |
1 |
156,341,889 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5840:Axdnd1
|
UTSW |
1 |
156,348,958 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6187:Axdnd1
|
UTSW |
1 |
156,365,612 (GRCm38) |
splice site |
probably null |
|
|
R6208:Axdnd1
|
UTSW |
1 |
156,392,856 (GRCm38) |
intron |
probably benign |
|
|
R6369:Axdnd1
|
UTSW |
1 |
156,392,745 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6493:Axdnd1
|
UTSW |
1 |
156,380,813 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7014:Axdnd1
|
UTSW |
1 |
156,330,962 (GRCm38) |
splice site |
probably null |
|
|
R7115:Axdnd1
|
UTSW |
1 |
156,380,876 (GRCm38) |
missense |
|
|
|
R7203:Axdnd1
|
UTSW |
1 |
156,382,389 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7352:Axdnd1
|
UTSW |
1 |
156,382,477 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R7447:Axdnd1
|
UTSW |
1 |
156,418,232 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7470:Axdnd1
|
UTSW |
1 |
156,376,516 (GRCm38) |
missense |
|
|
|
R7686:Axdnd1
|
UTSW |
1 |
156,395,464 (GRCm38) |
nonsense |
probably null |
|
|
R7793:Axdnd1
|
UTSW |
1 |
156,338,743 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7809:Axdnd1
|
UTSW |
1 |
156,392,801 (GRCm38) |
nonsense |
probably null |
|
|
R7882:Axdnd1
|
UTSW |
1 |
156,397,453 (GRCm38) |
missense |
|
|
|
R8256:Axdnd1
|
UTSW |
1 |
156,330,666 (GRCm38) |
missense |
unknown |
|
|
R8348:Axdnd1
|
UTSW |
1 |
156,418,284 (GRCm38) |
missense |
probably benign |
0.02 |
|
R8971:Axdnd1
|
UTSW |
1 |
156,391,946 (GRCm38) |
missense |
|
|
|
R9207:Axdnd1
|
UTSW |
1 |
156,388,046 (GRCm38) |
missense |
|
|
|
R9294:Axdnd1
|
UTSW |
1 |
156,420,347 (GRCm38) |
nonsense |
probably null |
|
|
R9741:Axdnd1
|
UTSW |
1 |
156,341,815 (GRCm38) |
missense |
probably benign |
0.18 |
|
X0009:Axdnd1
|
UTSW |
1 |
156,388,079 (GRCm38) |
missense |
possibly damaging |
0.61 |
|
X0067:Axdnd1
|
UTSW |
1 |
156,376,535 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
Z1176:Axdnd1
|
UTSW |
1 |
156,349,063 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
|
| Posted On |
2013-04-16 |
Incidental Mutation