Incidental Mutation 'R1087:Axdnd1'
| ID |
85057 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Axdnd1
|
| Ensembl Gene |
ENSMUSG00000026601 |
| Gene Name |
axonemal dynein light chain domain containing 1 |
| Synonyms |
LOC381304, 9430070O13Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.128)
|
| Stock # |
R1087 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
156323509-156421159 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 156365689 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 643
(M643L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137354
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102782]
[ENSMUST00000177824]
[ENSMUST00000178036]
[ENSMUST00000213088]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000027895
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102782
|
| SMART Domains |
Protein: ENSMUSP00000099843
Gene: ENSMUSG00000078193
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ribosomal_L29
|
7 |
63 |
2.7e-22 |
PFAM |
|
low complexity region
|
95 |
108 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177824
AA Change: M578L
PolyPhen 2
Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000135900
Gene: ENSMUSG00000026601
AA Change: M578L
| 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: M643L
PolyPhen 2
Score 0.083 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000137354
Gene: ENSMUSG00000026601
AA Change: M643L
| 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: M446L
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213088
AA Change: M643L
PolyPhen 2
Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700011I03Rik |
T |
C |
18: 57,730,798 (GRCm38) |
S225P |
probably damaging |
Het |
| Anxa11 |
A |
G |
14: 25,870,179 (GRCm38) |
M56V |
unknown |
Het |
| Arid4a |
G |
A |
12: 71,075,338 (GRCm38) |
S509N |
probably benign |
Het |
| Atp8b3 |
T |
C |
10: 80,520,183 (GRCm38) |
R1232G |
probably benign |
Het |
| Bsph1 |
A |
G |
7: 13,472,181 (GRCm38) |
Y57C |
probably damaging |
Het |
| Car13 |
G |
A |
3: 14,641,825 (GRCm38) |
W6* |
probably null |
Het |
| Ccng2 |
T |
C |
5: 93,273,444 (GRCm38) |
I271T |
probably benign |
Het |
| Ces1f |
T |
A |
8: 93,258,295 (GRCm38) |
D468V |
probably damaging |
Het |
| Chil4 |
A |
G |
3: 106,210,565 (GRCm38) |
Y130H |
probably benign |
Het |
| Clns1a |
T |
A |
7: 97,705,655 (GRCm38) |
H69Q |
possibly damaging |
Het |
| Cnot11 |
T |
A |
1: 39,540,058 (GRCm38) |
S335T |
probably benign |
Het |
| Dcaf11 |
A |
G |
14: 55,569,124 (GRCm38) |
S461G |
probably damaging |
Het |
| Dlst |
G |
A |
12: 85,132,639 (GRCm38) |
M417I |
probably damaging |
Het |
| Dock4 |
A |
C |
12: 40,729,938 (GRCm38) |
I612L |
probably benign |
Het |
| Endod1 |
A |
G |
9: 14,357,193 (GRCm38) |
V332A |
possibly damaging |
Het |
| F830045P16Rik |
T |
C |
2: 129,472,719 (GRCm38) |
T213A |
possibly damaging |
Het |
| Gm5773 |
A |
T |
3: 93,773,758 (GRCm38) |
I246F |
probably damaging |
Het |
| Gml2 |
T |
A |
15: 74,824,097 (GRCm38) |
D113E |
possibly damaging |
Het |
| Grik1 |
T |
C |
16: 88,006,377 (GRCm38) |
E309G |
probably benign |
Het |
| Hectd1 |
A |
T |
12: 51,776,572 (GRCm38) |
I1013K |
probably damaging |
Het |
| Kcmf1 |
T |
C |
6: 72,858,880 (GRCm38) |
E22G |
probably damaging |
Het |
| Kdm5b |
T |
A |
1: 134,600,637 (GRCm38) |
C361S |
probably damaging |
Het |
| Kif21b |
T |
C |
1: 136,162,823 (GRCm38) |
S1150P |
probably damaging |
Het |
| Man2b1 |
G |
A |
8: 85,095,171 (GRCm38) |
V701M |
probably damaging |
Het |
| March10 |
T |
C |
11: 105,390,662 (GRCm38) |
R266G |
probably damaging |
Het |
| Milr1 |
A |
G |
11: 106,755,022 (GRCm38) |
Y130C |
probably damaging |
Het |
| Nampt |
A |
G |
12: 32,833,043 (GRCm38) |
T76A |
possibly damaging |
Het |
| Nek10 |
A |
G |
14: 14,827,059 (GRCm38) |
N86D |
possibly damaging |
Het |
| Nms |
T |
G |
1: 38,944,111 (GRCm38) |
|
probably null |
Het |
| Olfr1490 |
T |
A |
19: 13,655,012 (GRCm38) |
C194* |
probably null |
Het |
| Parp14 |
A |
G |
16: 35,858,288 (GRCm38) |
S437P |
probably damaging |
Het |
| Pif1 |
A |
G |
9: 65,589,095 (GRCm38) |
M226V |
probably benign |
Het |
| Rnf169 |
T |
C |
7: 99,942,997 (GRCm38) |
R216G |
probably benign |
Het |
| Rorb |
T |
C |
19: 18,960,414 (GRCm38) |
K307R |
probably damaging |
Het |
| Scube2 |
T |
C |
7: 109,831,675 (GRCm38) |
D439G |
probably damaging |
Het |
| Serpinb8 |
T |
C |
1: 107,606,997 (GRCm38) |
V266A |
probably damaging |
Het |
| Strip2 |
A |
G |
6: 29,927,634 (GRCm38) |
E226G |
probably damaging |
Het |
| Trim23 |
A |
G |
13: 104,188,110 (GRCm38) |
D212G |
possibly damaging |
Het |
| Vmn1r172 |
T |
A |
7: 23,660,248 (GRCm38) |
V186D |
possibly damaging |
Het |
| Vwde |
A |
T |
6: 13,186,804 (GRCm38) |
C895S |
probably damaging |
Het |
| Zswim8 |
C |
A |
14: 20,717,865 (GRCm38) |
|
probably null |
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 |
|
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 |
PCR Primer
(F):5'- CCAGCCACTGGTAATTCGTGAGAG -3'
(R):5'- GGGACAATTCCACCTTCAGATCGTC -3'
Sequencing Primer
(F):5'- CACTGGTAATTCGTGAGAGTTAACAG -3'
(R):5'- CCAAACTTGGTCATTTCTTTGGACA -3'
|
| Posted On |
2013-11-18 |
Incidental Mutation