Incidental Mutation 'R3053:Axdnd1'
ID |
265018 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Axdnd1
|
Ensembl Gene |
ENSMUSG00000026601 |
Gene Name |
axonemal dynein light chain domain containing 1 |
Synonyms |
9430070O13Rik, LOC381304 |
MMRRC Submission |
040562-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.105)
|
Stock # |
R3053 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
156157985-156248743 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 156169440 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 809
(T809A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148420
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000177824]
[ENSMUST00000178036]
[ENSMUST00000212747]
[ENSMUST00000213088]
|
AlphaFold |
no structure available at present |
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 |
possibly damaging
Transcript: ENSMUST00000178036
AA Change: T809A
PolyPhen 2
Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000137354 Gene: ENSMUSG00000026601 AA Change: T809A
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: ENSMUST00000212342
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212747
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000213088
AA Change: T809A
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
Meta Mutation Damage Score |
0.1133 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
Validation Efficiency |
100% (37/37) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy5 |
T |
C |
16: 35,124,086 (GRCm39) |
L1255P |
probably damaging |
Het |
Agl |
T |
A |
3: 116,584,682 (GRCm39) |
I213F |
probably damaging |
Het |
Arap2 |
A |
G |
5: 62,906,200 (GRCm39) |
V273A |
probably benign |
Het |
Asb18 |
T |
A |
1: 89,920,707 (GRCm39) |
H149L |
probably damaging |
Het |
Bcl11b |
T |
C |
12: 107,882,260 (GRCm39) |
E613G |
probably benign |
Het |
Cibar1 |
G |
C |
4: 12,157,767 (GRCm39) |
|
probably null |
Het |
Cldn8 |
A |
C |
16: 88,359,619 (GRCm39) |
M102R |
probably damaging |
Het |
Cyp2a5 |
A |
G |
7: 26,542,410 (GRCm39) |
I471V |
possibly damaging |
Het |
Dmtf1 |
G |
T |
5: 9,179,316 (GRCm39) |
T206K |
probably damaging |
Het |
Dner |
G |
T |
1: 84,361,747 (GRCm39) |
Q621K |
probably damaging |
Het |
Gmppa |
A |
G |
1: 75,418,400 (GRCm39) |
Y261C |
probably benign |
Het |
Lama5 |
C |
T |
2: 179,824,860 (GRCm39) |
R2519K |
probably damaging |
Het |
Mical2 |
G |
T |
7: 111,910,630 (GRCm39) |
A267S |
probably damaging |
Het |
Nrxn3 |
A |
T |
12: 89,221,871 (GRCm39) |
D550V |
probably damaging |
Het |
Or1n1 |
T |
A |
2: 36,749,959 (GRCm39) |
M134L |
probably benign |
Het |
Pole |
A |
T |
5: 110,437,661 (GRCm39) |
D73V |
probably damaging |
Het |
Ppm1b |
G |
A |
17: 85,321,274 (GRCm39) |
R472K |
probably benign |
Het |
Ppm1m |
A |
G |
9: 106,075,874 (GRCm39) |
I18T |
probably benign |
Het |
Psg18 |
C |
T |
7: 18,083,118 (GRCm39) |
G225R |
probably damaging |
Het |
R3hcc1l |
T |
G |
19: 42,551,064 (GRCm39) |
Y20* |
probably null |
Het |
Rapgef1 |
T |
C |
2: 29,614,868 (GRCm39) |
I817T |
probably damaging |
Het |
Rasal3 |
T |
C |
17: 32,622,413 (GRCm39) |
E4G |
probably benign |
Het |
Ryr1 |
A |
T |
7: 28,752,515 (GRCm39) |
V3598E |
probably damaging |
Het |
Slc15a4 |
A |
T |
5: 127,673,746 (GRCm39) |
V556E |
possibly damaging |
Het |
Spats2l |
A |
G |
1: 57,939,925 (GRCm39) |
K193R |
probably damaging |
Het |
Tacc2 |
G |
A |
7: 130,227,226 (GRCm39) |
E1323K |
possibly damaging |
Het |
Tbc1d21 |
T |
A |
9: 58,270,352 (GRCm39) |
D141V |
probably damaging |
Het |
Tedc1 |
G |
T |
12: 113,120,087 (GRCm39) |
|
probably benign |
Het |
Terf2 |
A |
C |
8: 107,806,016 (GRCm39) |
L312R |
possibly damaging |
Het |
Tmem132d |
A |
C |
5: 127,869,538 (GRCm39) |
S599A |
probably benign |
Het |
Trp53bp2 |
T |
C |
1: 182,281,347 (GRCm39) |
F983L |
probably damaging |
Het |
Ubxn2a |
T |
A |
12: 4,941,322 (GRCm39) |
K95* |
probably null |
Het |
Ugt2a2 |
A |
T |
5: 87,622,328 (GRCm39) |
N213K |
probably damaging |
Het |
Xpo6 |
T |
C |
7: 125,703,893 (GRCm39) |
N1086D |
probably damaging |
Het |
Zbed5 |
A |
T |
5: 129,930,987 (GRCm39) |
H312L |
possibly damaging |
Het |
Zfp729b |
A |
G |
13: 67,741,585 (GRCm39) |
Y227H |
probably damaging |
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 |
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 |
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'- TATGGTGAGCATGTAGAACAGC -3'
(R):5'- CAGTGAGACACTTCTGTGCAG -3'
Sequencing Primer
(F):5'- CTGCAACTTAGGTACCCTGAGATG -3'
(R):5'- ACTTCTGTGCAGGTCTTTGAAC -3'
|
Posted On |
2015-02-05 |