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 |
9430070O13Rik, LOC381304 |
| MMRRC Submission |
038440-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.105)
|
| Stock # |
R0164 (G1)
|
| Quality Score |
171 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
156157985-156248743 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 156205956 bp (GRCm39)
|
| 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: 124,057,789 (GRCm39) |
|
probably benign |
Het |
| 4930522L14Rik |
T |
C |
5: 109,884,713 (GRCm39) |
K382E |
probably damaging |
Het |
| Adck1 |
A |
G |
12: 88,422,280 (GRCm39) |
E297G |
probably damaging |
Het |
| Aldh3a2 |
C |
T |
11: 61,139,714 (GRCm39) |
V473I |
probably benign |
Het |
| Arfgef3 |
A |
T |
10: 18,523,663 (GRCm39) |
I369K |
possibly damaging |
Het |
| Atp1b3 |
T |
C |
9: 96,220,762 (GRCm39) |
I178V |
possibly damaging |
Het |
| BB019430 |
A |
T |
10: 58,540,093 (GRCm39) |
|
noncoding transcript |
Het |
| Btbd1 |
T |
A |
7: 81,450,751 (GRCm39) |
Q343L |
probably benign |
Het |
| Catsper1 |
A |
G |
19: 5,389,503 (GRCm39) |
T473A |
possibly damaging |
Het |
| Ccn4 |
T |
C |
15: 66,791,059 (GRCm39) |
L287P |
probably damaging |
Het |
| Chmp6 |
G |
A |
11: 119,806,349 (GRCm39) |
|
probably null |
Het |
| Cstdc7 |
T |
A |
18: 42,306,608 (GRCm39) |
D58E |
probably damaging |
Het |
| D130040H23Rik |
T |
C |
8: 69,755,195 (GRCm39) |
V200A |
possibly damaging |
Het |
| D830013O20Rik |
C |
T |
12: 73,411,105 (GRCm39) |
|
noncoding transcript |
Het |
| Dcaf1 |
T |
A |
9: 106,721,344 (GRCm39) |
S379T |
possibly damaging |
Het |
| Dhx58 |
T |
C |
11: 100,586,150 (GRCm39) |
I624V |
probably benign |
Het |
| Disp3 |
T |
C |
4: 148,338,708 (GRCm39) |
E821G |
probably damaging |
Het |
| Dlc1 |
T |
A |
8: 37,066,594 (GRCm39) |
E464V |
probably damaging |
Het |
| Dnah10 |
G |
A |
5: 124,860,898 (GRCm39) |
V2151I |
probably damaging |
Het |
| Dnah8 |
G |
A |
17: 30,967,639 (GRCm39) |
G2617D |
probably benign |
Het |
| Dnah9 |
C |
A |
11: 65,809,630 (GRCm39) |
E872* |
probably null |
Het |
| Dock9 |
T |
C |
14: 121,835,077 (GRCm39) |
Y99C |
probably damaging |
Het |
| Dpy19l3 |
T |
A |
7: 35,416,071 (GRCm39) |
I310F |
probably damaging |
Het |
| Fggy |
A |
T |
4: 95,725,891 (GRCm39) |
I137F |
probably damaging |
Het |
| Gm14012 |
C |
T |
2: 128,079,936 (GRCm39) |
|
noncoding transcript |
Het |
| Gm14421 |
A |
T |
2: 176,748,515 (GRCm39) |
|
noncoding transcript |
Het |
| Grin2a |
A |
G |
16: 9,812,685 (GRCm39) |
|
probably null |
Het |
| Incenp |
A |
G |
19: 9,872,243 (GRCm39) |
S72P |
probably benign |
Het |
| Klc3 |
T |
A |
7: 19,128,851 (GRCm39) |
N469Y |
possibly damaging |
Het |
| Lrrc42 |
A |
G |
4: 107,104,702 (GRCm39) |
S88P |
probably benign |
Het |
| Lrrc49 |
G |
A |
9: 60,587,883 (GRCm39) |
T93I |
probably benign |
Het |
| Mlycd |
A |
T |
8: 120,134,380 (GRCm39) |
Q294L |
probably damaging |
Het |
| Mrpl22 |
T |
A |
11: 58,062,647 (GRCm39) |
I19N |
probably benign |
Het |
| Msh3 |
T |
A |
13: 92,485,717 (GRCm39) |
K202N |
probably damaging |
Het |
| Mucl2 |
C |
T |
15: 103,929,445 (GRCm39) |
|
probably null |
Het |
| Ncam1 |
C |
T |
9: 49,479,709 (GRCm39) |
D90N |
probably damaging |
Het |
| Nckap5 |
A |
T |
1: 125,952,144 (GRCm39) |
D1405E |
possibly damaging |
Het |
| Ncoa2 |
A |
G |
1: 13,256,955 (GRCm39) |
|
probably null |
Het |
| Nlrp1b |
A |
T |
11: 71,054,925 (GRCm39) |
W844R |
probably damaging |
Het |
| Nmnat1 |
G |
T |
4: 149,553,607 (GRCm39) |
N168K |
possibly damaging |
Het |
| Or5b96 |
A |
G |
19: 12,867,809 (GRCm39) |
L44P |
probably damaging |
Het |
| Ost4 |
T |
C |
5: 31,064,803 (GRCm39) |
H26R |
probably damaging |
Het |
| Otog |
G |
A |
7: 45,953,655 (GRCm39) |
V2638M |
probably damaging |
Het |
| Otogl |
A |
T |
10: 107,710,391 (GRCm39) |
I566N |
probably damaging |
Het |
| Pcyt1a |
T |
C |
16: 32,289,004 (GRCm39) |
S282P |
probably damaging |
Het |
| Prkcg |
G |
A |
7: 3,377,635 (GRCm39) |
E581K |
probably damaging |
Het |
| Ralgps2 |
A |
G |
1: 156,714,659 (GRCm39) |
|
probably null |
Het |
| Scmh1 |
T |
C |
4: 120,387,062 (GRCm39) |
|
probably benign |
Het |
| Sgo2b |
T |
C |
8: 64,391,417 (GRCm39) |
H150R |
possibly damaging |
Het |
| Sh2b3 |
T |
G |
5: 121,967,100 (GRCm39) |
T5P |
probably damaging |
Het |
| Tdp2 |
A |
G |
13: 25,022,222 (GRCm39) |
M214V |
probably damaging |
Het |
| Tmem204 |
A |
G |
17: 25,277,324 (GRCm39) |
I187T |
probably damaging |
Het |
| Tmem208 |
T |
G |
8: 106,061,326 (GRCm39) |
D117E |
probably benign |
Het |
| Tnks1bp1 |
C |
T |
2: 84,889,565 (GRCm39) |
P631S |
possibly damaging |
Het |
| Tomm70a |
T |
C |
16: 56,968,184 (GRCm39) |
V517A |
probably damaging |
Het |
| Ttc7 |
T |
C |
17: 87,687,323 (GRCm39) |
V801A |
probably damaging |
Het |
| Txndc5 |
A |
T |
13: 38,691,929 (GRCm39) |
C146S |
probably damaging |
Het |
| Ube4b |
G |
T |
4: 149,444,781 (GRCm39) |
T493K |
probably damaging |
Het |
| Ufl1 |
A |
T |
4: 25,256,008 (GRCm39) |
Y504N |
probably benign |
Het |
| Ulk3 |
T |
A |
9: 57,497,969 (GRCm39) |
I90N |
probably damaging |
Het |
| Unc13c |
T |
C |
9: 73,602,174 (GRCm39) |
I1357M |
probably benign |
Het |
| Vmn1r28 |
G |
A |
6: 58,242,702 (GRCm39) |
A182T |
probably benign |
Het |
| Vmn2r91 |
A |
C |
17: 18,326,399 (GRCm39) |
N228T |
probably benign |
Het |
| Zbtb6 |
G |
T |
2: 37,319,600 (GRCm39) |
Y109* |
probably null |
Het |
| Zfp640 |
G |
T |
13: 66,819,062 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp640 |
C |
A |
13: 66,819,038 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp980 |
A |
G |
4: 145,428,567 (GRCm39) |
D432G |
probably benign |
Het |
|
| Other mutations in Axdnd1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03058:Axdnd1
|
APN |
1 |
156,204,233 (GRCm39) |
missense |
probably benign |
0.41 |
|
IGL03075:Axdnd1
|
APN |
1 |
156,223,012 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03165:Axdnd1
|
APN |
1 |
156,205,959 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0164:Axdnd1
|
UTSW |
1 |
156,205,956 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0739:Axdnd1
|
UTSW |
1 |
156,208,456 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R1087:Axdnd1
|
UTSW |
1 |
156,193,259 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1350:Axdnd1
|
UTSW |
1 |
156,205,950 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1488:Axdnd1
|
UTSW |
1 |
156,176,530 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1493:Axdnd1
|
UTSW |
1 |
156,174,271 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1845:Axdnd1
|
UTSW |
1 |
156,204,114 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R1900:Axdnd1
|
UTSW |
1 |
156,208,344 (GRCm39) |
splice site |
probably null |
|
|
R2126:Axdnd1
|
UTSW |
1 |
156,160,784 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2163:Axdnd1
|
UTSW |
1 |
156,219,573 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2169:Axdnd1
|
UTSW |
1 |
156,245,879 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2380:Axdnd1
|
UTSW |
1 |
156,193,221 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2568:Axdnd1
|
UTSW |
1 |
156,220,319 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R3052:Axdnd1
|
UTSW |
1 |
156,169,440 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R3053:Axdnd1
|
UTSW |
1 |
156,169,440 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R3767:Axdnd1
|
UTSW |
1 |
156,208,428 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3927:Axdnd1
|
UTSW |
1 |
156,246,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3936:Axdnd1
|
UTSW |
1 |
156,159,209 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4829:Axdnd1
|
UTSW |
1 |
156,204,216 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4882:Axdnd1
|
UTSW |
1 |
156,223,129 (GRCm39) |
splice site |
probably null |
|
|
R4969:Axdnd1
|
UTSW |
1 |
156,223,075 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5091:Axdnd1
|
UTSW |
1 |
156,247,980 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R5510:Axdnd1
|
UTSW |
1 |
156,162,920 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5549:Axdnd1
|
UTSW |
1 |
156,226,104 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5587:Axdnd1
|
UTSW |
1 |
156,178,982 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5792:Axdnd1
|
UTSW |
1 |
156,169,459 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5840:Axdnd1
|
UTSW |
1 |
156,176,528 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6187:Axdnd1
|
UTSW |
1 |
156,193,182 (GRCm39) |
splice site |
probably null |
|
|
R6208:Axdnd1
|
UTSW |
1 |
156,220,426 (GRCm39) |
intron |
probably benign |
|
|
R6369:Axdnd1
|
UTSW |
1 |
156,220,315 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6493:Axdnd1
|
UTSW |
1 |
156,208,383 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7014:Axdnd1
|
UTSW |
1 |
156,158,532 (GRCm39) |
splice site |
probably null |
|
|
R7115:Axdnd1
|
UTSW |
1 |
156,208,446 (GRCm39) |
missense |
|
|
|
R7203:Axdnd1
|
UTSW |
1 |
156,209,959 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7352:Axdnd1
|
UTSW |
1 |
156,210,047 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7447:Axdnd1
|
UTSW |
1 |
156,245,802 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7470:Axdnd1
|
UTSW |
1 |
156,204,086 (GRCm39) |
missense |
|
|
|
R7686:Axdnd1
|
UTSW |
1 |
156,223,034 (GRCm39) |
nonsense |
probably null |
|
|
R7793:Axdnd1
|
UTSW |
1 |
156,166,313 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7809:Axdnd1
|
UTSW |
1 |
156,220,371 (GRCm39) |
nonsense |
probably null |
|
|
R7882:Axdnd1
|
UTSW |
1 |
156,225,023 (GRCm39) |
missense |
|
|
|
R8256:Axdnd1
|
UTSW |
1 |
156,158,236 (GRCm39) |
missense |
unknown |
|
|
R8348:Axdnd1
|
UTSW |
1 |
156,245,854 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8971:Axdnd1
|
UTSW |
1 |
156,219,516 (GRCm39) |
missense |
|
|
|
R9207:Axdnd1
|
UTSW |
1 |
156,215,616 (GRCm39) |
missense |
|
|
|
R9294:Axdnd1
|
UTSW |
1 |
156,247,917 (GRCm39) |
nonsense |
probably null |
|
|
R9741:Axdnd1
|
UTSW |
1 |
156,169,385 (GRCm39) |
missense |
probably benign |
0.18 |
|
X0009:Axdnd1
|
UTSW |
1 |
156,215,649 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
X0067:Axdnd1
|
UTSW |
1 |
156,204,105 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
Z1176:Axdnd1
|
UTSW |
1 |
156,176,633 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
|
| Posted On |
2013-04-16 |
Incidental Mutation