Incidental Mutation 'IGL03165:Axdnd1'
| ID |
411589 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Axdnd1
|
| Ensembl Gene |
ENSMUSG00000026601 |
| Gene Name |
axonemal dynein light chain domain containing 1 |
| Synonyms |
9430070O13Rik, LOC381304 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.105)
|
| Stock # |
IGL03165
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
156157985-156248743 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 156205959 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 519
(Y519F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148420
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000177824]
[ENSMUST00000178036]
[ENSMUST00000213088]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000027895
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177824
AA Change: Y454F
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000135900
Gene: ENSMUSG00000026601
AA Change: Y454F
| 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
AA Change: Y519F
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000137354
Gene: ENSMUSG00000026601
AA Change: Y519F
| 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 |
noncoding transcript
Transcript: ENSMUST00000179572
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000180173
AA Change: Y322F
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213088
AA Change: Y519F
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb3 |
T |
C |
1: 25,133,475 (GRCm39) |
I334V |
probably benign |
Het |
| C4b |
A |
G |
17: 34,958,929 (GRCm39) |
F500S |
probably benign |
Het |
| Cacng2 |
A |
T |
15: 77,879,863 (GRCm39) |
I153N |
possibly damaging |
Het |
| Ces1d |
T |
A |
8: 93,916,147 (GRCm39) |
H160L |
probably benign |
Het |
| Cnnm3 |
T |
G |
1: 36,564,313 (GRCm39) |
|
probably benign |
Het |
| Ctnna3 |
A |
G |
10: 64,781,720 (GRCm39) |
T728A |
probably damaging |
Het |
| Cyp2g1 |
G |
A |
7: 26,509,201 (GRCm39) |
V92M |
possibly damaging |
Het |
| Dock2 |
C |
A |
11: 34,578,360 (GRCm39) |
V35F |
probably damaging |
Het |
| Eif2a |
C |
A |
3: 58,456,049 (GRCm39) |
Y349* |
probably null |
Het |
| Erp44 |
C |
T |
4: 48,236,872 (GRCm39) |
|
probably null |
Het |
| Flg2 |
C |
T |
3: 93,121,918 (GRCm39) |
H1363Y |
unknown |
Het |
| Flnc |
G |
T |
6: 29,449,377 (GRCm39) |
G1425W |
probably damaging |
Het |
| Frem3 |
A |
G |
8: 81,339,158 (GRCm39) |
N484D |
probably benign |
Het |
| Fstl3 |
A |
G |
10: 79,615,799 (GRCm39) |
D95G |
probably benign |
Het |
| Gldc |
A |
G |
19: 30,076,393 (GRCm39) |
S1018P |
possibly damaging |
Het |
| Gstk1 |
T |
G |
6: 42,226,368 (GRCm39) |
I159S |
probably benign |
Het |
| Herc2 |
A |
G |
7: 55,841,660 (GRCm39) |
E3513G |
probably damaging |
Het |
| Hpca |
A |
T |
4: 129,012,383 (GRCm39) |
I51N |
probably damaging |
Het |
| Hsd17b7 |
C |
T |
1: 169,780,649 (GRCm39) |
E320K |
probably damaging |
Het |
| Igkv4-74 |
T |
C |
6: 69,162,289 (GRCm39) |
|
probably benign |
Het |
| Kdm7a |
C |
A |
6: 39,147,848 (GRCm39) |
|
probably benign |
Het |
| Or1e23 |
A |
T |
11: 73,407,710 (GRCm39) |
L105* |
probably null |
Het |
| Or52z14 |
T |
C |
7: 103,253,218 (GRCm39) |
I119T |
probably damaging |
Het |
| Or5al6 |
A |
C |
2: 85,976,412 (GRCm39) |
L222R |
possibly damaging |
Het |
| Pa2g4 |
A |
T |
10: 128,394,929 (GRCm39) |
|
probably null |
Het |
| Pdlim3 |
T |
A |
8: 46,372,035 (GRCm39) |
L360Q |
possibly damaging |
Het |
| Pkd1l2 |
G |
A |
8: 117,792,484 (GRCm39) |
T436I |
probably benign |
Het |
| Polk |
T |
A |
13: 96,653,196 (GRCm39) |
Q68L |
probably benign |
Het |
| Ppfia2 |
T |
G |
10: 106,603,348 (GRCm39) |
L195R |
probably damaging |
Het |
| Ranbp1 |
A |
T |
16: 18,065,145 (GRCm39) |
|
probably benign |
Het |
| Rbm12b1 |
A |
G |
4: 12,145,845 (GRCm39) |
R606G |
possibly damaging |
Het |
| Ryr1 |
A |
G |
7: 28,804,465 (GRCm39) |
V488A |
probably benign |
Het |
| Sall2 |
A |
T |
14: 52,551,625 (GRCm39) |
D521E |
probably damaging |
Het |
| Sntg1 |
A |
T |
1: 8,515,328 (GRCm39) |
C402S |
probably damaging |
Het |
| Spg7 |
T |
C |
8: 123,807,551 (GRCm39) |
|
probably null |
Het |
| Stk31 |
G |
A |
6: 49,422,198 (GRCm39) |
E750K |
probably damaging |
Het |
| Tlr2 |
A |
G |
3: 83,745,255 (GRCm39) |
I276T |
probably benign |
Het |
| Trav12-2 |
A |
T |
14: 53,854,206 (GRCm39) |
H60L |
probably benign |
Het |
| Urb1 |
A |
G |
16: 90,577,192 (GRCm39) |
L775S |
probably damaging |
Het |
| Utp14b |
A |
G |
1: 78,642,237 (GRCm39) |
D45G |
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 |
|
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 |
|
|
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation