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 |
9430070O13Rik, LOC381304 |
| MMRRC Submission |
067682-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.105)
|
| Stock # |
R8256 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
156157985-156248743 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 156158236 bp (GRCm39)
|
| 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: 30,958,287 (GRCm39) |
|
probably null |
Het |
| Acsbg1 |
A |
T |
9: 54,525,345 (GRCm39) |
M402K |
probably damaging |
Het |
| Adamts2 |
T |
C |
11: 50,683,583 (GRCm39) |
V955A |
probably benign |
Het |
| Adcy2 |
C |
T |
13: 68,768,880 (GRCm39) |
E1083K |
probably damaging |
Het |
| Adgrb2 |
G |
A |
4: 129,901,921 (GRCm39) |
A484T |
probably damaging |
Het |
| Adgrv1 |
G |
T |
13: 81,727,679 (GRCm39) |
D320E |
probably damaging |
Het |
| Arf4 |
T |
C |
14: 26,377,126 (GRCm39) |
S178P |
probably benign |
Het |
| Atg9a |
G |
A |
1: 75,163,563 (GRCm39) |
T179I |
possibly damaging |
Het |
| Atp13a2 |
A |
C |
4: 140,722,922 (GRCm39) |
Q225P |
possibly damaging |
Het |
| Bltp2 |
T |
A |
11: 78,167,979 (GRCm39) |
D1471E |
probably benign |
Het |
| Ccdc68 |
G |
T |
18: 70,072,018 (GRCm39) |
E32* |
probably null |
Het |
| Chd9 |
T |
C |
8: 91,660,129 (GRCm39) |
V363A |
unknown |
Het |
| Cmya5 |
C |
T |
13: 93,229,986 (GRCm39) |
E1701K |
possibly damaging |
Het |
| Def8 |
T |
C |
8: 124,186,368 (GRCm39) |
F369S |
probably damaging |
Het |
| Dhx8 |
C |
T |
11: 101,631,588 (GRCm39) |
P394S |
possibly damaging |
Het |
| Fbxo3 |
A |
G |
2: 103,864,008 (GRCm39) |
R88G |
probably damaging |
Het |
| Gstm4 |
A |
G |
3: 107,951,667 (GRCm39) |
|
probably null |
Het |
| Hira |
A |
G |
16: 18,744,443 (GRCm39) |
T387A |
probably benign |
Het |
| Hspbap1 |
A |
G |
16: 35,590,879 (GRCm39) |
T12A |
probably benign |
Het |
| Lipi |
G |
A |
16: 75,370,950 (GRCm39) |
A89V |
probably benign |
Het |
| Lsamp |
A |
T |
16: 41,965,007 (GRCm39) |
Y305F |
probably damaging |
Het |
| Ltbp1 |
T |
A |
17: 75,622,236 (GRCm39) |
|
probably benign |
Het |
| Mphosph9 |
C |
T |
5: 124,393,169 (GRCm39) |
D1116N |
probably damaging |
Het |
| Mylip |
T |
C |
13: 45,561,833 (GRCm39) |
C277R |
probably damaging |
Het |
| Mylk4 |
T |
C |
13: 32,904,522 (GRCm39) |
D204G |
probably damaging |
Het |
| Ncf2 |
G |
A |
1: 152,692,851 (GRCm39) |
|
probably null |
Het |
| Or2n1e |
T |
G |
17: 38,586,411 (GRCm39) |
L250V |
probably damaging |
Het |
| Plekhg3 |
T |
C |
12: 76,609,041 (GRCm39) |
L138P |
probably damaging |
Het |
| Pramel27 |
A |
G |
4: 143,578,255 (GRCm39) |
R172G |
probably benign |
Het |
| Ptk6 |
T |
A |
2: 180,837,633 (GRCm39) |
K429* |
probably null |
Het |
| Rasgrp4 |
T |
C |
7: 28,842,500 (GRCm39) |
V258A |
probably damaging |
Het |
| Rp1l1 |
T |
C |
14: 64,265,602 (GRCm39) |
L396S |
probably benign |
Het |
| Samd8 |
A |
T |
14: 21,833,745 (GRCm39) |
|
probably null |
Het |
| Spock1 |
T |
A |
13: 57,588,257 (GRCm39) |
I269F |
probably damaging |
Het |
| Tap2 |
A |
G |
17: 34,435,006 (GRCm39) |
D683G |
probably benign |
Het |
| Terb1 |
T |
C |
8: 105,199,579 (GRCm39) |
D455G |
possibly damaging |
Het |
| Tnfaip8l3 |
A |
G |
9: 53,934,528 (GRCm39) |
V149A |
probably benign |
Het |
| Ubr7 |
T |
A |
12: 102,736,170 (GRCm39) |
M364K |
probably damaging |
Het |
| Vmn1r121 |
T |
G |
7: 20,831,679 (GRCm39) |
N254H |
probably benign |
Het |
| Zfp804a |
A |
G |
2: 81,884,193 (GRCm39) |
N20S |
probably damaging |
Het |
| Zhx1 |
T |
C |
15: 57,916,359 (GRCm39) |
K629R |
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 |
|
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 |
|
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 |
|
|
|
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'- GCTTCTGCCATGCTTCTAGAG -3'
(R):5'- CTGCATAAGCCTTTATCTTAGAACC -3'
Sequencing Primer
(F):5'- GCTTCTAGAGAGAAATTTTCTTGGC -3'
(R):5'- GTCCTTAGAGGATACCAGTCA -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation