Incidental Mutation 'R5840:Axdnd1'
| ID |
450352 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Axdnd1
|
| Ensembl Gene |
ENSMUSG00000026601 |
| Gene Name |
axonemal dynein light chain domain containing 1 |
| Synonyms |
9430070O13Rik, LOC381304 |
| MMRRC Submission |
044060-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.115)
|
| Stock # |
R5840 (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 156176528 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 684
(E684G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135900
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000177824]
[ENSMUST00000178036]
[ENSMUST00000213088]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000177824
AA Change: E684G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000135900
Gene: ENSMUSG00000026601
AA Change: E684G
| 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: E749G
PolyPhen 2
Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000137354
Gene: ENSMUSG00000026601
AA Change: E749G
| 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 damaging
Transcript: ENSMUST00000213088
AA Change: E749G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Meta Mutation Damage Score |
0.1587 |
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.3%
- 10x: 96.5%
- 20x: 88.1%
|
| Validation Efficiency |
99% (75/76) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca2 |
G |
A |
2: 25,323,371 (GRCm39) |
R113Q |
probably benign |
Het |
| Aip |
G |
A |
19: 4,166,010 (GRCm39) |
P147L |
possibly damaging |
Het |
| Anapc1 |
A |
C |
2: 128,448,957 (GRCm39) |
|
probably benign |
Het |
| Arhgap42 |
C |
T |
9: 9,046,518 (GRCm39) |
V240I |
possibly damaging |
Het |
| BC005624 |
G |
A |
2: 30,871,869 (GRCm39) |
R2W |
probably benign |
Het |
| Cd177 |
T |
G |
7: 24,457,495 (GRCm39) |
Q182P |
probably damaging |
Het |
| Cdca5 |
G |
A |
19: 6,140,399 (GRCm39) |
E187K |
possibly damaging |
Het |
| Chmp1a |
T |
C |
8: 123,934,839 (GRCm39) |
Q39R |
probably benign |
Het |
| Dab2ip |
A |
G |
2: 35,617,511 (GRCm39) |
I1079V |
probably damaging |
Het |
| Dip2c |
A |
T |
13: 9,556,712 (GRCm39) |
E85D |
possibly damaging |
Het |
| Elmo2 |
A |
T |
2: 165,137,472 (GRCm39) |
S497R |
possibly damaging |
Het |
| Ephb6 |
C |
T |
6: 41,592,507 (GRCm39) |
A339V |
possibly damaging |
Het |
| Foxred1 |
T |
C |
9: 35,121,435 (GRCm39) |
K38E |
probably damaging |
Het |
| Frem2 |
T |
A |
3: 53,555,342 (GRCm39) |
T1732S |
probably damaging |
Het |
| Fto |
A |
G |
8: 92,393,068 (GRCm39) |
|
probably benign |
Het |
| Gm17430 |
T |
A |
18: 9,726,528 (GRCm39) |
Q48L |
probably damaging |
Het |
| Gng2 |
A |
G |
14: 19,925,882 (GRCm39) |
I70T |
probably damaging |
Het |
| Gtf2a2 |
A |
G |
9: 69,922,575 (GRCm39) |
|
probably benign |
Het |
| Invs |
A |
G |
4: 48,396,284 (GRCm39) |
D263G |
probably damaging |
Het |
| Itga2b |
C |
T |
11: 102,352,157 (GRCm39) |
V475M |
probably damaging |
Het |
| Kansl1l |
A |
G |
1: 66,809,374 (GRCm39) |
|
probably benign |
Het |
| Klhl25 |
T |
C |
7: 75,516,440 (GRCm39) |
F449L |
possibly damaging |
Het |
| Lamb1 |
T |
A |
12: 31,316,755 (GRCm39) |
C83S |
probably damaging |
Het |
| Loxl4 |
G |
T |
19: 42,587,154 (GRCm39) |
T648K |
probably damaging |
Het |
| Lrit2 |
T |
C |
14: 36,790,962 (GRCm39) |
F214L |
possibly damaging |
Het |
| N4bp2 |
T |
G |
5: 65,965,437 (GRCm39) |
L1162R |
probably damaging |
Het |
| Naa40 |
A |
T |
19: 7,207,373 (GRCm39) |
I117N |
probably benign |
Het |
| Ncapd3 |
T |
C |
9: 27,006,054 (GRCm39) |
S1492P |
probably benign |
Het |
| Nf2 |
T |
A |
11: 4,766,146 (GRCm39) |
D128V |
probably benign |
Het |
| Nox4 |
T |
C |
7: 87,010,001 (GRCm39) |
S401P |
probably benign |
Het |
| Nt5c1b |
T |
C |
12: 10,427,171 (GRCm39) |
V323A |
probably damaging |
Het |
| Or52a33 |
C |
T |
7: 103,288,463 (GRCm39) |
V295I |
probably benign |
Het |
| Or52s19 |
T |
A |
7: 103,007,576 (GRCm39) |
H275L |
probably damaging |
Het |
| Or5b118 |
G |
A |
19: 13,449,242 (GRCm39) |
V303I |
probably benign |
Het |
| Pcdhb14 |
T |
C |
18: 37,581,803 (GRCm39) |
V303A |
probably benign |
Het |
| Pde8a |
C |
A |
7: 80,863,713 (GRCm39) |
H17Q |
probably benign |
Het |
| Pfkl |
C |
T |
10: 77,824,558 (GRCm39) |
V716I |
probably benign |
Het |
| Phc3 |
G |
A |
3: 30,990,732 (GRCm39) |
S495L |
possibly damaging |
Het |
| Psg18 |
A |
G |
7: 18,080,527 (GRCm39) |
|
probably benign |
Het |
| Rcc2 |
T |
G |
4: 140,439,449 (GRCm39) |
N175K |
possibly damaging |
Het |
| Rhot2 |
G |
A |
17: 26,059,032 (GRCm39) |
T276I |
probably benign |
Het |
| Rnase9 |
A |
T |
14: 51,276,445 (GRCm39) |
Y178N |
probably benign |
Het |
| Sema4b |
T |
C |
7: 79,868,697 (GRCm39) |
C297R |
probably damaging |
Het |
| Slc35d2 |
T |
C |
13: 64,266,227 (GRCm39) |
|
probably null |
Het |
| Sptlc3 |
A |
T |
2: 139,389,126 (GRCm39) |
N169Y |
probably damaging |
Het |
| Srsf9 |
T |
G |
5: 115,469,524 (GRCm39) |
M29R |
probably benign |
Het |
| Stip1 |
C |
A |
19: 6,999,436 (GRCm39) |
D449Y |
possibly damaging |
Het |
| Syne2 |
T |
A |
12: 75,927,065 (GRCm39) |
|
probably null |
Het |
| Tgm5 |
A |
G |
2: 120,916,141 (GRCm39) |
|
probably null |
Het |
| Thbs2 |
A |
T |
17: 14,901,692 (GRCm39) |
|
probably null |
Het |
| Trak2 |
T |
C |
1: 58,958,432 (GRCm39) |
E283G |
probably damaging |
Het |
| Trbv21 |
A |
G |
6: 41,179,792 (GRCm39) |
Y36C |
probably damaging |
Het |
| Trpm7 |
A |
T |
2: 126,664,531 (GRCm39) |
Y949* |
probably null |
Het |
| Ubqln5 |
T |
C |
7: 103,778,161 (GRCm39) |
D221G |
possibly damaging |
Het |
| Ubxn4 |
T |
A |
1: 128,187,262 (GRCm39) |
V85D |
possibly damaging |
Het |
| Vmn1r172 |
T |
A |
7: 23,359,600 (GRCm39) |
W162R |
probably benign |
Het |
| Vrk2 |
A |
G |
11: 26,484,314 (GRCm39) |
|
probably benign |
Het |
| Zc3h8 |
A |
C |
2: 128,771,824 (GRCm39) |
D276E |
probably benign |
Het |
| Zfp369 |
C |
T |
13: 65,445,092 (GRCm39) |
T745I |
possibly damaging |
Het |
| Zfp608 |
T |
C |
18: 55,031,978 (GRCm39) |
K654R |
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 |
|
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 |
|
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'- ACCGTGCTGAAACAAGCTG -3'
(R):5'- GCTGAGTCATCTTTCCCAGC -3'
Sequencing Primer
(F):5'- GGAATTTTGTTACATAGCCAGCCCAG -3'
(R):5'- CTAAAATGGTTGCTTGGATTGTAATC -3'
|
| Posted On |
2016-12-20 |
Incidental Mutation