Incidental Mutation 'R7809:Axdnd1'
| ID |
600988 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Axdnd1
|
| Ensembl Gene |
ENSMUSG00000026601 |
| Gene Name |
axonemal dynein light chain domain containing 1 |
| Synonyms |
9430070O13Rik, LOC381304 |
| MMRRC Submission |
045864-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.115)
|
| Stock # |
R7809 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
156157985-156248743 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 156220371 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 118
(C118*)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000177824]
[ENSMUST00000178036]
[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 |
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 null
Transcript: ENSMUST00000180173
AA Change: C118*
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213088
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot13 |
G |
A |
13: 25,004,779 (GRCm39) |
T62I |
probably damaging |
Het |
| Adam33 |
C |
G |
2: 130,893,266 (GRCm39) |
R779P |
probably benign |
Het |
| Adgrv1 |
G |
A |
13: 81,676,760 (GRCm39) |
P2024S |
possibly damaging |
Het |
| Afm |
A |
G |
5: 90,672,675 (GRCm39) |
N170S |
probably damaging |
Het |
| Ambn |
G |
A |
5: 88,615,683 (GRCm39) |
V371I |
probably benign |
Het |
| Apbb1 |
G |
A |
7: 105,223,014 (GRCm39) |
P199L |
probably benign |
Het |
| Carf |
G |
T |
1: 60,183,226 (GRCm39) |
V443L |
probably damaging |
Het |
| Cfap251 |
A |
G |
5: 123,402,894 (GRCm39) |
D459G |
probably damaging |
Het |
| Ckap5 |
G |
A |
2: 91,436,702 (GRCm39) |
A1601T |
probably benign |
Het |
| Cnot1 |
A |
T |
8: 96,478,406 (GRCm39) |
I973N |
probably damaging |
Het |
| Col11a1 |
A |
G |
3: 113,890,835 (GRCm39) |
T391A |
unknown |
Het |
| Cracr2a |
A |
T |
6: 127,626,925 (GRCm39) |
M569L |
probably benign |
Het |
| Cspg4 |
T |
C |
9: 56,797,474 (GRCm39) |
F1313L |
probably damaging |
Het |
| Cstdc2 |
A |
G |
2: 148,688,910 (GRCm39) |
S110P |
probably damaging |
Het |
| Cttnbp2 |
C |
A |
6: 18,434,289 (GRCm39) |
R523L |
probably damaging |
Het |
| Cxadr |
T |
C |
16: 78,130,407 (GRCm39) |
|
probably null |
Het |
| Dnah17 |
A |
T |
11: 117,995,462 (GRCm39) |
M962K |
probably benign |
Het |
| Dnm1 |
T |
C |
2: 32,243,091 (GRCm39) |
K44R |
probably damaging |
Het |
| Fat3 |
T |
C |
9: 15,917,924 (GRCm39) |
S1500G |
probably damaging |
Het |
| Gad1 |
T |
C |
2: 70,427,603 (GRCm39) |
F503S |
possibly damaging |
Het |
| Garin3 |
A |
G |
11: 46,298,631 (GRCm39) |
E645G |
|
Het |
| Gm20730 |
T |
C |
6: 43,058,989 (GRCm39) |
I15V |
probably benign |
Het |
| Gmppb |
T |
G |
9: 107,928,654 (GRCm39) |
*361G |
probably null |
Het |
| Inpp5f |
T |
C |
7: 128,269,367 (GRCm39) |
V239A |
probably damaging |
Het |
| Irf4 |
A |
T |
13: 30,941,415 (GRCm39) |
Y257F |
probably benign |
Het |
| Kcnma1 |
T |
C |
14: 23,423,324 (GRCm39) |
D793G |
probably benign |
Het |
| Kif11 |
T |
C |
19: 37,373,057 (GRCm39) |
V92A |
probably damaging |
Het |
| Lrriq1 |
T |
C |
10: 103,051,678 (GRCm39) |
K358R |
probably damaging |
Het |
| Mcpt4 |
T |
A |
14: 56,298,141 (GRCm39) |
I137F |
possibly damaging |
Het |
| Muc6 |
T |
A |
7: 141,226,638 (GRCm39) |
H1358L |
probably benign |
Het |
| Mug1 |
A |
T |
6: 121,855,944 (GRCm39) |
M979L |
possibly damaging |
Het |
| Mvb12a |
C |
A |
8: 71,998,306 (GRCm39) |
P175T |
probably benign |
Het |
| Myh13 |
A |
G |
11: 67,241,167 (GRCm39) |
E848G |
probably benign |
Het |
| Or4c105 |
A |
T |
2: 88,647,902 (GRCm39) |
H129L |
probably damaging |
Het |
| Oxnad1 |
T |
C |
14: 31,822,962 (GRCm39) |
V231A |
probably benign |
Het |
| Pcdhac1 |
A |
G |
18: 37,224,009 (GRCm39) |
N274S |
possibly damaging |
Het |
| Plxnc1 |
T |
A |
10: 94,630,302 (GRCm39) |
K1532N |
probably damaging |
Het |
| Polr3e |
A |
G |
7: 120,523,449 (GRCm39) |
D14G |
probably damaging |
Het |
| Prex1 |
A |
G |
2: 166,415,164 (GRCm39) |
F1432S |
possibly damaging |
Het |
| Prlhr |
A |
G |
19: 60,456,293 (GRCm39) |
L91P |
probably damaging |
Het |
| Prom1 |
C |
T |
5: 44,178,209 (GRCm39) |
V508I |
probably benign |
Het |
| Rmnd1 |
T |
C |
10: 4,357,848 (GRCm39) |
Y387C |
probably damaging |
Het |
| Sall3 |
T |
A |
18: 81,017,575 (GRCm39) |
T118S |
probably benign |
Het |
| Sf3b1 |
A |
T |
1: 55,034,614 (GRCm39) |
D1015E |
possibly damaging |
Het |
| Sfmbt2 |
A |
G |
2: 10,398,155 (GRCm39) |
N12S |
probably benign |
Het |
| Sohlh1 |
A |
C |
2: 25,735,289 (GRCm39) |
S198A |
probably benign |
Het |
| Sorbs2 |
T |
C |
8: 46,198,465 (GRCm39) |
S38P |
possibly damaging |
Het |
| Spata21 |
G |
A |
4: 140,831,354 (GRCm39) |
A434T |
probably null |
Het |
| Stard13 |
T |
A |
5: 151,113,489 (GRCm39) |
Q24L |
probably damaging |
Het |
| Syne2 |
G |
T |
12: 76,014,230 (GRCm39) |
M3140I |
probably benign |
Het |
| Tango6 |
T |
C |
8: 107,415,926 (GRCm39) |
|
probably null |
Het |
| Tdrd9 |
G |
A |
12: 111,999,155 (GRCm39) |
G757R |
probably damaging |
Het |
| Thada |
A |
C |
17: 84,759,265 (GRCm39) |
V198G |
possibly damaging |
Het |
| Tmf1 |
T |
C |
6: 97,138,420 (GRCm39) |
N833D |
probably damaging |
Het |
| Trav7-3 |
T |
C |
14: 53,681,072 (GRCm39) |
M38T |
probably benign |
Het |
| Ttc38 |
A |
C |
15: 85,722,939 (GRCm39) |
Q129P |
possibly damaging |
Het |
| Uox |
A |
T |
3: 146,333,613 (GRCm39) |
K271* |
probably null |
Het |
| Urgcp |
A |
T |
11: 5,673,133 (GRCm39) |
D47E |
probably benign |
Het |
| Usp17lb |
A |
G |
7: 104,490,420 (GRCm39) |
I169T |
probably damaging |
Het |
| Wdr75 |
T |
C |
1: 45,862,596 (GRCm39) |
I805T |
probably benign |
Het |
| Zfp131 |
A |
G |
13: 120,250,446 (GRCm39) |
F59S |
probably damaging |
Het |
| Zfp383 |
G |
A |
7: 29,609,661 (GRCm39) |
A21T |
possibly damaging |
Het |
| Zfp810 |
T |
C |
9: 22,190,278 (GRCm39) |
Y210C |
possibly damaging |
Het |
| Zfp871 |
A |
G |
17: 32,993,826 (GRCm39) |
C450R |
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 |
|
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 |
|
|
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'- CTACAGGTAAAGACAAGGCTCTGG -3'
(R):5'- TGTGGTTCCTCTCAAAAGGG -3'
Sequencing Primer
(F):5'- TAAAGACAAGGCTCTGGCTTCG -3'
(R):5'- GACACGTCTTGTCTTTGGT -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation