Incidental Mutation 'R4882:Axdnd1'
| ID |
375314 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Axdnd1
|
| Ensembl Gene |
ENSMUSG00000026601 |
| Gene Name |
axonemal dynein light chain domain containing 1 |
| Synonyms |
9430070O13Rik, LOC381304 |
| MMRRC Submission |
042490-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.105)
|
| Stock # |
R4882 (G1)
|
| Quality Score |
199 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
156157985-156248743 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 156223129 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148420
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000177824]
[ENSMUST00000177824]
[ENSMUST00000178036]
[ENSMUST00000178036]
[ENSMUST00000213088]
[ENSMUST00000213088]
[ENSMUST00000213088]
[ENSMUST00000213088]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000027895
|
| Predicted Effect |
probably null
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 null
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 |
noncoding transcript
Transcript: ENSMUST00000177858
|
| Predicted Effect |
probably null
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 null
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 null
Transcript: ENSMUST00000180173
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000180173
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000180173
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000180173
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000213088
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000213088
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000213088
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000213088
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.9%
|
| Validation Efficiency |
98% (59/60) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acap3 |
A |
G |
4: 155,990,112 (GRCm39) |
D764G |
probably damaging |
Het |
| Adgrg6 |
T |
A |
10: 14,310,081 (GRCm39) |
I775F |
possibly damaging |
Het |
| Ahnak |
T |
A |
19: 8,983,261 (GRCm39) |
M1515K |
probably damaging |
Het |
| Aqp4 |
A |
G |
18: 15,531,311 (GRCm39) |
V150A |
possibly damaging |
Het |
| Bap1 |
C |
T |
14: 30,973,678 (GRCm39) |
|
probably benign |
Het |
| BB014433 |
A |
G |
8: 15,092,016 (GRCm39) |
V279A |
probably benign |
Het |
| Cacng8 |
T |
C |
7: 3,460,669 (GRCm39) |
Y151H |
probably damaging |
Het |
| Caskin1 |
T |
C |
17: 24,723,389 (GRCm39) |
S726P |
probably damaging |
Het |
| Cd200 |
T |
C |
16: 45,217,380 (GRCm39) |
T104A |
probably benign |
Het |
| Cdk12 |
C |
T |
11: 98,101,272 (GRCm39) |
R377C |
unknown |
Het |
| Ceacam13 |
A |
G |
7: 17,746,997 (GRCm39) |
H150R |
probably benign |
Het |
| Cebpzos |
T |
C |
17: 79,227,220 (GRCm39) |
Y65H |
probably benign |
Het |
| Cgnl1 |
T |
A |
9: 71,624,683 (GRCm39) |
M630L |
probably benign |
Het |
| Dop1b |
G |
T |
16: 93,549,802 (GRCm39) |
R247L |
possibly damaging |
Het |
| Dqx1 |
A |
G |
6: 83,043,069 (GRCm39) |
|
probably null |
Het |
| Etaa1 |
T |
C |
11: 17,896,174 (GRCm39) |
S648G |
probably benign |
Het |
| Flnb |
A |
G |
14: 7,929,936 (GRCm38) |
D2022G |
possibly damaging |
Het |
| Gpr158 |
T |
A |
2: 21,830,059 (GRCm39) |
N701K |
probably damaging |
Het |
| H2-Eb2 |
C |
T |
17: 34,553,230 (GRCm39) |
H139Y |
probably benign |
Het |
| Hbb-bh2 |
A |
T |
7: 103,488,455 (GRCm39) |
V114E |
probably damaging |
Het |
| Ifna9 |
T |
A |
4: 88,510,540 (GRCm39) |
Q28L |
probably benign |
Het |
| Inca1 |
T |
C |
11: 70,579,566 (GRCm39) |
T188A |
probably benign |
Het |
| Irf9 |
G |
T |
14: 55,846,496 (GRCm39) |
|
probably benign |
Het |
| Kdm1b |
T |
A |
13: 47,214,369 (GRCm39) |
H238Q |
probably benign |
Het |
| Lpin1 |
G |
C |
12: 16,588,537 (GRCm39) |
F851L |
probably damaging |
Het |
| Map3k9 |
C |
T |
12: 81,770,936 (GRCm39) |
R884Q |
probably damaging |
Het |
| Mcm3ap |
C |
T |
10: 76,320,495 (GRCm39) |
Q818* |
probably null |
Het |
| Mcm7 |
A |
T |
5: 138,164,173 (GRCm39) |
|
probably null |
Het |
| Npdc1 |
G |
A |
2: 25,298,957 (GRCm39) |
D284N |
probably damaging |
Het |
| Nppa |
G |
T |
4: 148,085,544 (GRCm39) |
M50I |
probably benign |
Het |
| Opcml |
G |
A |
9: 28,812,886 (GRCm39) |
E193K |
probably damaging |
Het |
| Phf14 |
T |
A |
6: 11,988,756 (GRCm39) |
N665K |
possibly damaging |
Het |
| Plekhh3 |
G |
A |
11: 101,056,009 (GRCm39) |
A47V |
probably damaging |
Het |
| Plekhh3 |
T |
A |
11: 101,058,764 (GRCm39) |
E156V |
probably null |
Het |
| Prpf19 |
T |
C |
19: 10,876,323 (GRCm39) |
|
probably benign |
Het |
| Rev3l |
T |
A |
10: 39,697,456 (GRCm39) |
V651E |
possibly damaging |
Het |
| Sgpl1 |
T |
C |
10: 60,948,044 (GRCm39) |
N171S |
probably damaging |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Slx4 |
T |
C |
16: 3,798,860 (GRCm39) |
|
probably null |
Het |
| Smchd1 |
T |
A |
17: 71,665,234 (GRCm39) |
|
probably benign |
Het |
| Snca |
A |
G |
6: 60,792,719 (GRCm39) |
V63A |
probably benign |
Het |
| Taok3 |
A |
T |
5: 117,390,695 (GRCm39) |
Q92L |
probably damaging |
Het |
| Uhrf1 |
T |
C |
17: 56,616,401 (GRCm39) |
V73A |
probably damaging |
Het |
| Usp38 |
G |
A |
8: 81,708,606 (GRCm39) |
Q991* |
probably null |
Het |
| Vmn2r96 |
T |
A |
17: 18,817,866 (GRCm39) |
V673E |
probably damaging |
Het |
| Zan |
A |
G |
5: 137,436,710 (GRCm39) |
Y2048H |
unknown |
Het |
| Zfp759 |
T |
A |
13: 67,287,354 (GRCm39) |
Y302N |
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 |
|
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 |
|
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'- ACAGCTTTTGACATGGGGAAC -3'
(R):5'- CTGGTAGGTACAATTCAGGAGCC -3'
Sequencing Primer
(F):5'- GGAACCTGGAACATTCCAT -3'
(R):5'- TGAACTCTGGACCTTCGGAAG -3'
|
| Posted On |
2016-03-17 |
Incidental Mutation