Incidental Mutation 'R8256:Axdnd1'
| ID |
640544 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Axdnd1
|
| Ensembl Gene |
ENSMUSG00000026601 |
| Gene Name |
axonemal dynein light chain domain containing 1 |
| Synonyms |
LOC381304, 9430070O13Rik |
| MMRRC Submission |
067682-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.128)
|
| Stock # |
R8256 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
156323509-156421159 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 156330666 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 1105
(T1105A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148420
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027896]
[ENSMUST00000177824]
[ENSMUST00000178036]
[ENSMUST00000193020]
[ENSMUST00000212747]
[ENSMUST00000213088]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027896
|
| SMART Domains |
Protein: ENSMUSP00000027896
Gene: ENSMUSG00000026602
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
43 |
N/A |
INTRINSIC |
|
low complexity region
|
56 |
73 |
N/A |
INTRINSIC |
|
PHB
|
125 |
284 |
7.31e-35 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177824
|
| SMART Domains |
Protein: ENSMUSP00000135900
Gene: ENSMUSG00000026601
| 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
|
| SMART Domains |
Protein: ENSMUSP00000137354
Gene: ENSMUSG00000026601
| 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 |
probably benign
Transcript: ENSMUST00000193020
|
| SMART Domains |
Protein: ENSMUSP00000141328
Gene: ENSMUSG00000026602
| Domain | Start | End | E-Value | Type |
|---|
|
PHB
|
50 |
201 |
7.6e-19 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212747
AA Change: T269A
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000213088
AA Change: T1105A
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (41/41) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acap2 |
A |
T |
16: 31,139,469 (GRCm38) |
|
probably null |
Het |
| Acsbg1 |
A |
T |
9: 54,618,061 (GRCm38) |
M402K |
probably damaging |
Het |
| Adamts2 |
T |
C |
11: 50,792,756 (GRCm38) |
V955A |
probably benign |
Het |
| Adcy2 |
C |
T |
13: 68,620,761 (GRCm38) |
E1083K |
probably damaging |
Het |
| Adgrb2 |
G |
A |
4: 130,008,128 (GRCm38) |
A484T |
probably damaging |
Het |
| Adgrv1 |
G |
T |
13: 81,579,560 (GRCm38) |
D320E |
probably damaging |
Het |
| Arf4 |
T |
C |
14: 26,655,971 (GRCm38) |
S178P |
probably benign |
Het |
| Atg9a |
G |
A |
1: 75,186,919 (GRCm38) |
T179I |
possibly damaging |
Het |
| Atp13a2 |
A |
C |
4: 140,995,611 (GRCm38) |
Q225P |
possibly damaging |
Het |
| Bltp2 |
T |
A |
11: 78,277,153 (GRCm38) |
D1471E |
probably benign |
Het |
| Ccdc68 |
G |
T |
18: 69,938,947 (GRCm38) |
E32* |
probably null |
Het |
| Chd9 |
T |
C |
8: 90,933,501 (GRCm38) |
V363A |
unknown |
Het |
| Cmya5 |
C |
T |
13: 93,093,478 (GRCm38) |
E1701K |
possibly damaging |
Het |
| Def8 |
T |
C |
8: 123,459,629 (GRCm38) |
F369S |
probably damaging |
Het |
| Dhx8 |
C |
T |
11: 101,740,762 (GRCm38) |
P394S |
possibly damaging |
Het |
| Fbxo3 |
A |
G |
2: 104,033,663 (GRCm38) |
R88G |
probably damaging |
Het |
| Gstm4 |
A |
G |
3: 108,044,351 (GRCm38) |
|
probably null |
Het |
| Hira |
A |
G |
16: 18,925,693 (GRCm38) |
T387A |
probably benign |
Het |
| Hspbap1 |
A |
G |
16: 35,770,509 (GRCm38) |
T12A |
probably benign |
Het |
| Lipi |
G |
A |
16: 75,574,062 (GRCm38) |
A89V |
probably benign |
Het |
| Lsamp |
A |
T |
16: 42,144,644 (GRCm38) |
Y305F |
probably damaging |
Het |
| Ltbp1 |
T |
A |
17: 75,315,241 (GRCm38) |
|
probably benign |
Het |
| Mphosph9 |
C |
T |
5: 124,255,106 (GRCm38) |
D1116N |
probably damaging |
Het |
| Mylip |
T |
C |
13: 45,408,357 (GRCm38) |
C277R |
probably damaging |
Het |
| Mylk4 |
T |
C |
13: 32,720,539 (GRCm38) |
D204G |
probably damaging |
Het |
| Ncf2 |
G |
A |
1: 152,817,100 (GRCm38) |
|
probably null |
Het |
| Or2n1e |
T |
G |
17: 38,275,520 (GRCm38) |
L250V |
probably damaging |
Het |
| Plekhg3 |
T |
C |
12: 76,562,267 (GRCm38) |
L138P |
probably damaging |
Het |
| Pramel27 |
A |
G |
4: 143,851,685 (GRCm38) |
R172G |
probably benign |
Het |
| Ptk6 |
T |
A |
2: 181,195,840 (GRCm38) |
K429* |
probably null |
Het |
| Rasgrp4 |
T |
C |
7: 29,143,075 (GRCm38) |
V258A |
probably damaging |
Het |
| Rp1l1 |
T |
C |
14: 64,028,153 (GRCm38) |
L396S |
probably benign |
Het |
| Samd8 |
A |
T |
14: 21,783,677 (GRCm38) |
|
probably null |
Het |
| Spock1 |
T |
A |
13: 57,440,444 (GRCm38) |
I269F |
probably damaging |
Het |
| Tap2 |
A |
G |
17: 34,216,032 (GRCm38) |
D683G |
probably benign |
Het |
| Terb1 |
T |
C |
8: 104,472,947 (GRCm38) |
D455G |
possibly damaging |
Het |
| Tnfaip8l3 |
A |
G |
9: 54,027,244 (GRCm38) |
V149A |
probably benign |
Het |
| Ubr7 |
T |
A |
12: 102,769,911 (GRCm38) |
M364K |
probably damaging |
Het |
| Vmn1r121 |
T |
G |
7: 21,097,754 (GRCm38) |
N254H |
probably benign |
Het |
| Zfp804a |
A |
G |
2: 82,053,849 (GRCm38) |
N20S |
probably damaging |
Het |
| Zhx1 |
T |
C |
15: 58,052,963 (GRCm38) |
K629R |
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 |
|
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 |
|
|
|
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 |
PCR Primer
(F):5'- GCTTCTGCCATGCTTCTAGAG -3'
(R):5'- CTGCATAAGCCTTTATCTTAGAACC -3'
Sequencing Primer
(F):5'- GCTTCTAGAGAGAAATTTTCTTGGC -3'
(R):5'- GTCCTTAGAGGATACCAGTCA -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation