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 |
LOC381304, 9430070O13Rik |
| MMRRC Submission |
040427-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.128)
|
| Stock # |
R2568 (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 156392749 bp (GRCm38)
|
| 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 |
|---|
| 2410089E03Rik |
T |
C |
15: 8,201,269 (GRCm38) |
V1010A |
possibly damaging |
Het |
| 4930563D23Rik |
A |
G |
16: 92,321,319 (GRCm38) |
L27P |
probably damaging |
Het |
| A730071L15Rik |
A |
T |
11: 6,200,161 (GRCm38) |
|
probably benign |
Het |
| Abca13 |
A |
T |
11: 9,333,310 (GRCm38) |
N3244I |
probably benign |
Het |
| Adgrf5 |
A |
G |
17: 43,437,671 (GRCm38) |
T219A |
probably damaging |
Het |
| Adgrg5 |
A |
T |
8: 94,934,021 (GRCm38) |
N92I |
probably damaging |
Het |
| Agt |
A |
C |
8: 124,556,955 (GRCm38) |
V475G |
probably damaging |
Het |
| Akap6 |
A |
G |
12: 52,887,278 (GRCm38) |
K518E |
possibly damaging |
Het |
| Apoh |
T |
G |
11: 108,404,871 (GRCm38) |
D133E |
probably benign |
Het |
| Cacna1d |
A |
G |
14: 30,082,511 (GRCm38) |
I1335T |
probably damaging |
Het |
| Cdh15 |
G |
A |
8: 122,862,024 (GRCm38) |
R279Q |
probably damaging |
Het |
| Cfap206 |
T |
A |
4: 34,711,566 (GRCm38) |
K444* |
probably null |
Het |
| Clasp2 |
A |
G |
9: 113,878,764 (GRCm38) |
I614M |
probably benign |
Het |
| Col6a4 |
A |
T |
9: 106,063,076 (GRCm38) |
D1218E |
possibly damaging |
Het |
| Csmd3 |
CCTTTGCGCTT |
CCTT |
15: 47,741,236 (GRCm38) |
|
probably null |
Het |
| D130043K22Rik |
C |
T |
13: 24,883,891 (GRCm38) |
T870M |
probably damaging |
Het |
| Dagla |
C |
A |
19: 10,248,152 (GRCm38) |
A883S |
probably benign |
Het |
| Dhx30 |
A |
G |
9: 110,097,195 (GRCm38) |
V87A |
probably damaging |
Het |
| Dtx1 |
C |
A |
5: 120,710,184 (GRCm38) |
V44L |
possibly damaging |
Het |
| Ecm2 |
T |
A |
13: 49,530,129 (GRCm38) |
S528T |
possibly damaging |
Het |
| Egfem1 |
A |
T |
3: 29,582,931 (GRCm38) |
N172I |
probably damaging |
Het |
| Fam102b |
T |
A |
3: 108,978,848 (GRCm38) |
N356I |
probably benign |
Het |
| Fam13a |
T |
G |
6: 58,935,609 (GRCm38) |
R686S |
probably damaging |
Het |
| Fmo1 |
T |
A |
1: 162,836,259 (GRCm38) |
I234L |
probably benign |
Het |
| Foxj2 |
C |
T |
6: 122,828,372 (GRCm38) |
R68W |
probably damaging |
Het |
| Foxo6 |
A |
T |
4: 120,268,764 (GRCm38) |
M278K |
probably benign |
Het |
| Fsip2 |
A |
G |
2: 82,990,431 (GRCm38) |
S5503G |
probably benign |
Het |
| Gdf5 |
C |
G |
2: 155,942,090 (GRCm38) |
R100G |
probably benign |
Het |
| Il1b |
A |
T |
2: 129,367,322 (GRCm38) |
D129E |
probably damaging |
Het |
| Klhl29 |
A |
G |
12: 5,091,350 (GRCm38) |
S545P |
probably damaging |
Het |
| Krt83 |
G |
T |
15: 101,487,827 (GRCm38) |
R296S |
possibly damaging |
Het |
| Llgl1 |
T |
G |
11: 60,708,812 (GRCm38) |
S509R |
probably damaging |
Het |
| Lmod1 |
A |
T |
1: 135,363,964 (GRCm38) |
K186* |
probably null |
Het |
| Lrpprc |
C |
T |
17: 84,726,649 (GRCm38) |
A973T |
probably damaging |
Het |
| Marco |
T |
C |
1: 120,494,785 (GRCm38) |
H49R |
possibly damaging |
Het |
| Mylk4 |
T |
C |
13: 32,722,018 (GRCm38) |
N394S |
probably null |
Het |
| Myo5a |
T |
C |
9: 75,151,897 (GRCm38) |
V469A |
probably damaging |
Het |
| Myo5a |
A |
G |
9: 75,123,040 (GRCm38) |
Y147C |
probably damaging |
Het |
| Myot |
A |
G |
18: 44,337,216 (GRCm38) |
T87A |
probably benign |
Het |
| Nav2 |
A |
G |
7: 49,597,564 (GRCm38) |
H2154R |
probably damaging |
Het |
| Nek10 |
A |
G |
14: 14,999,112 (GRCm38) |
E1037G |
possibly damaging |
Het |
| Olfr181 |
A |
G |
16: 58,925,923 (GRCm38) |
V216A |
probably benign |
Het |
| Olfr341 |
T |
C |
2: 36,479,974 (GRCm38) |
D52G |
probably damaging |
Het |
| Olfr677 |
A |
G |
7: 105,056,671 (GRCm38) |
T142A |
probably benign |
Het |
| Pitrm1 |
G |
T |
13: 6,575,092 (GRCm38) |
V869F |
probably benign |
Het |
| Plekhm3 |
CCTGCTGCTGCTGCTGCTGCTGCTGC |
CCTGCTGCTGCTGCTGCTGCTGC |
1: 64,937,781 (GRCm38) |
|
probably benign |
Het |
| Prdx1 |
T |
G |
4: 116,693,800 (GRCm38) |
I156S |
probably benign |
Het |
| Rbks |
T |
A |
5: 31,665,752 (GRCm38) |
T107S |
probably damaging |
Het |
| Ryr3 |
G |
A |
2: 112,675,874 (GRCm38) |
R3468W |
probably damaging |
Het |
| Scn1a |
C |
T |
2: 66,273,469 (GRCm38) |
D1805N |
probably damaging |
Het |
| Sirpa |
T |
C |
2: 129,615,648 (GRCm38) |
V214A |
probably benign |
Het |
| Slc35c1 |
T |
C |
2: 92,458,880 (GRCm38) |
N94D |
probably benign |
Het |
| Sorbs2 |
A |
T |
8: 45,795,370 (GRCm38) |
K553* |
probably null |
Het |
| Tectb |
C |
G |
19: 55,180,999 (GRCm38) |
|
probably benign |
Het |
| Thg1l |
A |
G |
11: 45,951,565 (GRCm38) |
V142A |
probably benign |
Het |
| Tiparp |
T |
A |
3: 65,553,130 (GRCm38) |
Y513* |
probably null |
Het |
| Tmc6 |
A |
G |
11: 117,772,820 (GRCm38) |
V522A |
probably benign |
Het |
| Trim39 |
T |
A |
17: 36,269,164 (GRCm38) |
|
probably benign |
Het |
| Trrap |
G |
A |
5: 144,843,369 (GRCm38) |
|
probably null |
Het |
| Tulp3 |
C |
T |
6: 128,327,638 (GRCm38) |
V218I |
probably benign |
Het |
| Vmn1r38 |
T |
A |
6: 66,776,971 (GRCm38) |
I54F |
probably benign |
Het |
| Vmn2r23 |
T |
A |
6: 123,742,188 (GRCm38) |
Y833* |
probably null |
Het |
| Zfp810 |
A |
T |
9: 22,279,238 (GRCm38) |
S125T |
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 |
|
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'- GTGGTTAGCATTTCCTACAGGTAAAG -3'
(R):5'- TGTGGTTCCTCTCAAAAGGG -3'
Sequencing Primer
(F):5'- TAAAGACAAGGCTCTGGCTTC -3'
(R):5'- GACACGTCTTGTCTTTGGT -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation