Incidental Mutation 'R7115:Axdnd1'
| ID |
551714 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Axdnd1
|
| Ensembl Gene |
ENSMUSG00000026601 |
| Gene Name |
axonemal dynein light chain domain containing 1 |
| Synonyms |
LOC381304, 9430070O13Rik |
| MMRRC Submission |
045206-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.128)
|
| Stock # |
R7115 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
156323509-156421159 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 156380876 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 267
(K267R)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000177824]
[ENSMUST00000178036]
[ENSMUST00000213088]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177824
AA Change: K399R
PolyPhen 2
Score 0.147 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000135900
Gene: ENSMUSG00000026601
AA Change: K399R
| 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: K464R
PolyPhen 2
Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000137354
Gene: ENSMUSG00000026601
AA Change: K464R
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213088
AA Change: K464R
PolyPhen 2
Score 0.353 (Sensitivity: 0.90; Specificity: 0.89)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc1 |
T |
A |
16: 14,437,725 (GRCm38) |
I636N |
probably benign |
Het |
| Adam5 |
A |
G |
8: 24,781,696 (GRCm38) |
I565T |
possibly damaging |
Het |
| Amd2 |
C |
A |
10: 35,711,637 (GRCm38) |
|
probably benign |
Het |
| Ap5m1 |
T |
A |
14: 49,086,270 (GRCm38) |
Y472* |
probably null |
Het |
| Apcdd1 |
T |
C |
18: 62,936,953 (GRCm38) |
F97S |
probably damaging |
Het |
| Carf |
G |
T |
1: 60,148,150 (GRCm38) |
L637F |
probably damaging |
Het |
| Ccdc103 |
A |
T |
11: 102,883,810 (GRCm38) |
S95C |
possibly damaging |
Het |
| Cfap20 |
T |
C |
8: 95,421,246 (GRCm38) |
I156V |
probably benign |
Het |
| Csn1s2a |
T |
C |
5: 87,781,805 (GRCm38) |
C96R |
probably benign |
Het |
| Cspg4b |
T |
G |
13: 113,320,776 (GRCm38) |
S1119A |
|
Het |
| Ctif |
CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC |
CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC |
18: 75,471,803 (GRCm38) |
|
probably benign |
Het |
| Dennd2a |
G |
A |
6: 39,506,711 (GRCm38) |
T405M |
probably damaging |
Het |
| Dennd5a |
A |
G |
7: 109,894,754 (GRCm38) |
Y1248H |
probably damaging |
Het |
| Dnah14 |
A |
T |
1: 181,720,145 (GRCm38) |
K2504N |
probably damaging |
Het |
| Dnajb2 |
G |
A |
1: 75,243,662 (GRCm38) |
G275D |
|
Het |
| Elf3 |
T |
G |
1: 135,257,118 (GRCm38) |
D110A |
probably damaging |
Het |
| Eomes |
A |
G |
9: 118,484,489 (GRCm38) |
N534S |
probably benign |
Het |
| Fry |
A |
T |
5: 150,386,067 (GRCm38) |
R659W |
probably damaging |
Het |
| Gm10428 |
G |
A |
11: 62,753,380 (GRCm38) |
C94Y |
unknown |
Het |
| Gm2696 |
T |
A |
10: 77,836,299 (GRCm38) |
C111S |
unknown |
Het |
| Gpt2 |
G |
A |
8: 85,518,052 (GRCm38) |
E325K |
probably benign |
Het |
| Lrp1b |
T |
A |
2: 40,998,235 (GRCm38) |
N2338Y |
|
Het |
| Map2k1 |
A |
G |
9: 64,212,606 (GRCm38) |
I139T |
probably damaging |
Het |
| Or10n7-ps1 |
T |
C |
9: 39,686,707 (GRCm38) |
Y79C |
probably benign |
Het |
| Or8g20 |
T |
C |
9: 39,484,648 (GRCm38) |
I202V |
probably benign |
Het |
| Pxylp1 |
G |
A |
9: 96,825,010 (GRCm38) |
T373I |
probably benign |
Het |
| Ranbp9 |
T |
C |
13: 43,406,671 (GRCm38) |
N484S |
probably benign |
Het |
| Rassf5 |
A |
G |
1: 131,181,249 (GRCm38) |
V293A |
probably benign |
Het |
| Ring1 |
A |
G |
17: 34,023,446 (GRCm38) |
I29T |
probably damaging |
Het |
| Scn1a |
G |
A |
2: 66,324,618 (GRCm38) |
Q666* |
probably null |
Het |
| Spice1 |
G |
A |
16: 44,379,275 (GRCm38) |
G697R |
probably benign |
Het |
| Tas2r131 |
A |
G |
6: 132,957,604 (GRCm38) |
F81L |
probably benign |
Het |
| Tenm2 |
G |
A |
11: 36,163,817 (GRCm38) |
S572L |
probably damaging |
Het |
| Tfr2 |
A |
G |
5: 137,571,715 (GRCm38) |
T128A |
probably benign |
Het |
| Trim56 |
T |
A |
5: 137,113,660 (GRCm38) |
Q334L |
probably damaging |
Het |
| Vmn2r44 |
T |
A |
7: 8,367,528 (GRCm38) |
R840* |
probably null |
Het |
|
| Other mutations in Axdnd1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03058:Axdnd1
|
APN |
1 |
156,376,663 (GRCm38) |
missense |
probably benign |
0.41 |
|
IGL03075:Axdnd1
|
APN |
1 |
156,395,442 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03165:Axdnd1
|
APN |
1 |
156,378,389 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0164:Axdnd1
|
UTSW |
1 |
156,378,386 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R0164:Axdnd1
|
UTSW |
1 |
156,378,386 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R0739:Axdnd1
|
UTSW |
1 |
156,380,886 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
R1087:Axdnd1
|
UTSW |
1 |
156,365,689 (GRCm38) |
missense |
probably benign |
0.08 |
|
R1350:Axdnd1
|
UTSW |
1 |
156,378,380 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1488:Axdnd1
|
UTSW |
1 |
156,348,960 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1493:Axdnd1
|
UTSW |
1 |
156,346,701 (GRCm38) |
missense |
probably benign |
0.03 |
|
R1845:Axdnd1
|
UTSW |
1 |
156,376,544 (GRCm38) |
missense |
possibly damaging |
0.58 |
|
R1900:Axdnd1
|
UTSW |
1 |
156,380,774 (GRCm38) |
splice site |
probably null |
|
|
R2126:Axdnd1
|
UTSW |
1 |
156,333,214 (GRCm38) |
missense |
probably benign |
0.03 |
|
R2163:Axdnd1
|
UTSW |
1 |
156,392,003 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2169:Axdnd1
|
UTSW |
1 |
156,418,309 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2380:Axdnd1
|
UTSW |
1 |
156,365,651 (GRCm38) |
missense |
probably benign |
0.02 |
|
R2568:Axdnd1
|
UTSW |
1 |
156,392,749 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R3052:Axdnd1
|
UTSW |
1 |
156,341,870 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R3053:Axdnd1
|
UTSW |
1 |
156,341,870 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R3767:Axdnd1
|
UTSW |
1 |
156,380,858 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3927:Axdnd1
|
UTSW |
1 |
156,419,270 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3936:Axdnd1
|
UTSW |
1 |
156,331,639 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4829:Axdnd1
|
UTSW |
1 |
156,376,646 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R4882:Axdnd1
|
UTSW |
1 |
156,395,559 (GRCm38) |
splice site |
probably null |
|
|
R4969:Axdnd1
|
UTSW |
1 |
156,395,505 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R5091:Axdnd1
|
UTSW |
1 |
156,420,410 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R5510:Axdnd1
|
UTSW |
1 |
156,335,350 (GRCm38) |
missense |
probably benign |
0.03 |
|
R5549:Axdnd1
|
UTSW |
1 |
156,398,534 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5587:Axdnd1
|
UTSW |
1 |
156,351,412 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5792:Axdnd1
|
UTSW |
1 |
156,341,889 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5840:Axdnd1
|
UTSW |
1 |
156,348,958 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6187:Axdnd1
|
UTSW |
1 |
156,365,612 (GRCm38) |
splice site |
probably null |
|
|
R6208:Axdnd1
|
UTSW |
1 |
156,392,856 (GRCm38) |
intron |
probably benign |
|
|
R6369:Axdnd1
|
UTSW |
1 |
156,392,745 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6493:Axdnd1
|
UTSW |
1 |
156,380,813 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7014:Axdnd1
|
UTSW |
1 |
156,330,962 (GRCm38) |
splice site |
probably null |
|
|
R7203:Axdnd1
|
UTSW |
1 |
156,382,389 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7352:Axdnd1
|
UTSW |
1 |
156,382,477 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R7447:Axdnd1
|
UTSW |
1 |
156,418,232 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7470:Axdnd1
|
UTSW |
1 |
156,376,516 (GRCm38) |
missense |
|
|
|
R7686:Axdnd1
|
UTSW |
1 |
156,395,464 (GRCm38) |
nonsense |
probably null |
|
|
R7793:Axdnd1
|
UTSW |
1 |
156,338,743 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7809:Axdnd1
|
UTSW |
1 |
156,392,801 (GRCm38) |
nonsense |
probably null |
|
|
R7882:Axdnd1
|
UTSW |
1 |
156,397,453 (GRCm38) |
missense |
|
|
|
R8256:Axdnd1
|
UTSW |
1 |
156,330,666 (GRCm38) |
missense |
unknown |
|
|
R8348:Axdnd1
|
UTSW |
1 |
156,418,284 (GRCm38) |
missense |
probably benign |
0.02 |
|
R8971:Axdnd1
|
UTSW |
1 |
156,391,946 (GRCm38) |
missense |
|
|
|
R9207:Axdnd1
|
UTSW |
1 |
156,388,046 (GRCm38) |
missense |
|
|
|
R9294:Axdnd1
|
UTSW |
1 |
156,420,347 (GRCm38) |
nonsense |
probably null |
|
|
R9741:Axdnd1
|
UTSW |
1 |
156,341,815 (GRCm38) |
missense |
probably benign |
0.18 |
|
X0009:Axdnd1
|
UTSW |
1 |
156,388,079 (GRCm38) |
missense |
possibly damaging |
0.61 |
|
X0067:Axdnd1
|
UTSW |
1 |
156,376,535 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
Z1176:Axdnd1
|
UTSW |
1 |
156,349,063 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCAAACAGTGCTCTGGACC -3'
(R):5'- TCCATGTAGCACAGAAAGCC -3'
Sequencing Primer
(F):5'- GCTCTGGACCAGCAATGAGTATTC -3'
(R):5'- AAAATGTCTTCTCAACTTTTGACCC -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation