Incidental Mutation 'R2568:Axdnd1'
ID |
254601 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Axdnd1
|
Ensembl Gene |
ENSMUSG00000026601 |
Gene Name |
axonemal dynein light chain domain containing 1 |
Synonyms |
9430070O13Rik, LOC381304 |
MMRRC Submission |
040427-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.105)
|
Stock # |
R2568 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
156157985-156248743 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 156220319 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Leucine
at position 234
(M234L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000135900
(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 |
possibly damaging
Transcript: ENSMUST00000177824
AA Change: M234L
PolyPhen 2
Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000135900 Gene: ENSMUSG00000026601 AA Change: M234L
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: M299L
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000137354 Gene: ENSMUSG00000026601 AA Change: M299L
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 |
unknown
Transcript: ENSMUST00000180173
AA Change: M136L
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000213088
AA Change: M299L
PolyPhen 2
Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A730071L15Rik |
A |
T |
11: 6,150,161 (GRCm39) |
|
probably benign |
Het |
Abca13 |
A |
T |
11: 9,283,310 (GRCm39) |
N3244I |
probably benign |
Het |
Adgrf5 |
A |
G |
17: 43,748,562 (GRCm39) |
T219A |
probably damaging |
Het |
Adgrg5 |
A |
T |
8: 95,660,649 (GRCm39) |
N92I |
probably damaging |
Het |
Agt |
A |
C |
8: 125,283,694 (GRCm39) |
V475G |
probably damaging |
Het |
Akap6 |
A |
G |
12: 52,934,061 (GRCm39) |
K518E |
possibly damaging |
Het |
Apoh |
T |
G |
11: 108,295,697 (GRCm39) |
D133E |
probably benign |
Het |
Cacna1d |
A |
G |
14: 29,804,468 (GRCm39) |
I1335T |
probably damaging |
Het |
Cdh15 |
G |
A |
8: 123,588,763 (GRCm39) |
R279Q |
probably damaging |
Het |
Cfap206 |
T |
A |
4: 34,711,566 (GRCm39) |
K444* |
probably null |
Het |
Clasp2 |
A |
G |
9: 113,707,832 (GRCm39) |
I614M |
probably benign |
Het |
Col6a4 |
A |
T |
9: 105,940,275 (GRCm39) |
D1218E |
possibly damaging |
Het |
Cplane1 |
T |
C |
15: 8,230,753 (GRCm39) |
V1010A |
possibly damaging |
Het |
Csmd3 |
CCTTTGCGCTT |
CCTT |
15: 47,604,632 (GRCm39) |
|
probably null |
Het |
D130043K22Rik |
C |
T |
13: 25,067,874 (GRCm39) |
T870M |
probably damaging |
Het |
Dagla |
C |
A |
19: 10,225,516 (GRCm39) |
A883S |
probably benign |
Het |
Dhx30 |
A |
G |
9: 109,926,263 (GRCm39) |
V87A |
probably damaging |
Het |
Dtx1 |
C |
A |
5: 120,848,249 (GRCm39) |
V44L |
possibly damaging |
Het |
Ecm2 |
T |
A |
13: 49,683,605 (GRCm39) |
S528T |
possibly damaging |
Het |
Eeig2 |
T |
A |
3: 108,886,164 (GRCm39) |
N356I |
probably benign |
Het |
Egfem1 |
A |
T |
3: 29,637,080 (GRCm39) |
N172I |
probably damaging |
Het |
Fam13a |
T |
G |
6: 58,912,594 (GRCm39) |
R686S |
probably damaging |
Het |
Fam243 |
A |
G |
16: 92,118,207 (GRCm39) |
L27P |
probably damaging |
Het |
Fmo1 |
T |
A |
1: 162,663,828 (GRCm39) |
I234L |
probably benign |
Het |
Foxj2 |
C |
T |
6: 122,805,331 (GRCm39) |
R68W |
probably damaging |
Het |
Foxo6 |
A |
T |
4: 120,125,961 (GRCm39) |
M278K |
probably benign |
Het |
Fsip2 |
A |
G |
2: 82,820,775 (GRCm39) |
S5503G |
probably benign |
Het |
Gdf5 |
C |
G |
2: 155,784,010 (GRCm39) |
R100G |
probably benign |
Het |
Il1b |
A |
T |
2: 129,209,242 (GRCm39) |
D129E |
probably damaging |
Het |
Klhl29 |
A |
G |
12: 5,141,350 (GRCm39) |
S545P |
probably damaging |
Het |
Krt87 |
G |
T |
15: 101,385,708 (GRCm39) |
R296S |
possibly damaging |
Het |
Llgl1 |
T |
G |
11: 60,599,638 (GRCm39) |
S509R |
probably damaging |
Het |
Lmod1 |
A |
T |
1: 135,291,702 (GRCm39) |
K186* |
probably null |
Het |
Lrpprc |
C |
T |
17: 85,034,077 (GRCm39) |
A973T |
probably damaging |
Het |
Marco |
T |
C |
1: 120,422,514 (GRCm39) |
H49R |
possibly damaging |
Het |
Mylk4 |
T |
C |
13: 32,906,001 (GRCm39) |
N394S |
probably null |
Het |
Myo5a |
A |
G |
9: 75,030,322 (GRCm39) |
Y147C |
probably damaging |
Het |
Myo5a |
T |
C |
9: 75,059,179 (GRCm39) |
V469A |
probably damaging |
Het |
Myot |
A |
G |
18: 44,470,283 (GRCm39) |
T87A |
probably benign |
Het |
Nav2 |
A |
G |
7: 49,247,312 (GRCm39) |
H2154R |
probably damaging |
Het |
Nek10 |
A |
G |
14: 14,999,112 (GRCm38) |
E1037G |
possibly damaging |
Het |
Or1j13 |
T |
C |
2: 36,369,986 (GRCm39) |
D52G |
probably damaging |
Het |
Or52e4 |
A |
G |
7: 104,705,878 (GRCm39) |
T142A |
probably benign |
Het |
Or5k17 |
A |
G |
16: 58,746,286 (GRCm39) |
V216A |
probably benign |
Het |
Pitrm1 |
G |
T |
13: 6,625,128 (GRCm39) |
V869F |
probably benign |
Het |
Plekhm3 |
CCTGCTGCTGCTGCTGCTGCTGCTGC |
CCTGCTGCTGCTGCTGCTGCTGC |
1: 64,976,940 (GRCm39) |
|
probably benign |
Het |
Prdx1 |
T |
G |
4: 116,550,997 (GRCm39) |
I156S |
probably benign |
Het |
Rbks |
T |
A |
5: 31,823,096 (GRCm39) |
T107S |
probably damaging |
Het |
Ryr3 |
G |
A |
2: 112,506,219 (GRCm39) |
R3468W |
probably damaging |
Het |
Scn1a |
C |
T |
2: 66,103,813 (GRCm39) |
D1805N |
probably damaging |
Het |
Sirpa |
T |
C |
2: 129,457,568 (GRCm39) |
V214A |
probably benign |
Het |
Slc35c1 |
T |
C |
2: 92,289,225 (GRCm39) |
N94D |
probably benign |
Het |
Sorbs2 |
A |
T |
8: 46,248,407 (GRCm39) |
K553* |
probably null |
Het |
Tectb |
C |
G |
19: 55,169,431 (GRCm39) |
|
probably benign |
Het |
Thg1l |
A |
G |
11: 45,842,392 (GRCm39) |
V142A |
probably benign |
Het |
Tiparp |
T |
A |
3: 65,460,551 (GRCm39) |
Y513* |
probably null |
Het |
Tmc6 |
A |
G |
11: 117,663,646 (GRCm39) |
V522A |
probably benign |
Het |
Trim39 |
T |
A |
17: 36,580,056 (GRCm39) |
|
probably benign |
Het |
Trrap |
G |
A |
5: 144,780,179 (GRCm39) |
|
probably null |
Het |
Tulp3 |
C |
T |
6: 128,304,601 (GRCm39) |
V218I |
probably benign |
Het |
Vmn1r38 |
T |
A |
6: 66,753,955 (GRCm39) |
I54F |
probably benign |
Het |
Vmn2r23 |
T |
A |
6: 123,719,147 (GRCm39) |
Y833* |
probably null |
Het |
Zfp810 |
A |
T |
9: 22,190,534 (GRCm39) |
S125T |
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 |
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 |
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 |
PCR Primer
(F):5'- GTGGTTAGCATTTCCTACAGGTAAAG -3'
(R):5'- TGTGGTTCCTCTCAAAAGGG -3'
Sequencing Primer
(F):5'- TAAAGACAAGGCTCTGGCTTC -3'
(R):5'- GACACGTCTTGTCTTTGGT -3'
|
Posted On |
2014-12-04 |