Incidental Mutation 'R9741:Axdnd1'
| ID |
731817 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Axdnd1
|
| Ensembl Gene |
ENSMUSG00000026601 |
| Gene Name |
axonemal dynein light chain domain containing 1 |
| Synonyms |
9430070O13Rik, LOC381304 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.105)
|
| Stock # |
R9741 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
156157985-156248743 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 156169385 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 827
(Y827F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148420
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000177824]
[ENSMUST00000178036]
[ENSMUST00000212747]
[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 |
possibly damaging
Transcript: ENSMUST00000178036
AA Change: Y827F
PolyPhen 2
Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000137354
Gene: ENSMUSG00000026601
AA Change: Y827F
| 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 benign
Transcript: ENSMUST00000212747
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213088
AA Change: Y827F
PolyPhen 2
Score 0.178 (Sensitivity: 0.92; Specificity: 0.87)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.5%
- 20x: 99.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd6 |
T |
A |
4: 32,860,339 (GRCm39) |
K35* |
probably null |
Het |
| Apoc3 |
G |
T |
9: 46,145,998 (GRCm39) |
T5K |
unknown |
Het |
| Arhgap20 |
T |
A |
9: 51,760,730 (GRCm39) |
Y860* |
probably null |
Het |
| Arhgef11 |
T |
C |
3: 87,595,156 (GRCm39) |
S123P |
probably benign |
Het |
| Armh4 |
A |
G |
14: 50,008,081 (GRCm39) |
I464T |
probably benign |
Het |
| Bbs5 |
A |
G |
2: 69,484,695 (GRCm39) |
T122A |
probably benign |
Het |
| Btbd6 |
T |
A |
12: 112,940,923 (GRCm39) |
D173E |
probably benign |
Het |
| Cblb |
T |
C |
16: 51,932,490 (GRCm39) |
I149T |
probably damaging |
Het |
| Cyp2ab1 |
G |
A |
16: 20,132,953 (GRCm39) |
R214C |
probably damaging |
Het |
| Dbn1 |
C |
T |
13: 55,624,114 (GRCm39) |
S372N |
possibly damaging |
Het |
| Dlg1 |
T |
A |
16: 31,676,735 (GRCm39) |
Y776* |
probably null |
Het |
| Dock9 |
A |
T |
14: 121,877,516 (GRCm39) |
I409N |
probably damaging |
Het |
| Ect2 |
A |
T |
3: 27,156,607 (GRCm39) |
N815K |
probably benign |
Het |
| Fbxw11 |
G |
T |
11: 32,685,358 (GRCm39) |
V398L |
probably damaging |
Het |
| Gcsam |
T |
C |
16: 45,436,319 (GRCm39) |
F34S |
possibly damaging |
Het |
| Ghsr |
G |
A |
3: 27,428,898 (GRCm39) |
V308I |
possibly damaging |
Het |
| Gm40460 |
ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
7: 141,794,450 (GRCm39) |
|
probably benign |
Het |
| H1f10 |
A |
G |
6: 87,958,200 (GRCm39) |
Y47H |
probably damaging |
Het |
| Hspg2 |
T |
C |
4: 137,239,962 (GRCm39) |
F510S |
probably damaging |
Het |
| Htr1a |
T |
C |
13: 105,581,861 (GRCm39) |
V367A |
possibly damaging |
Het |
| Iars1 |
T |
G |
13: 49,844,978 (GRCm39) |
F163C |
probably damaging |
Het |
| Igfn1 |
T |
C |
1: 135,895,383 (GRCm39) |
T1728A |
probably benign |
Het |
| Ighv7-3 |
C |
T |
12: 114,116,995 (GRCm39) |
V56I |
probably benign |
Het |
| Lrp1b |
A |
T |
2: 41,002,300 (GRCm39) |
I2133N |
|
Het |
| Lrrc37 |
T |
C |
11: 103,504,255 (GRCm39) |
E2571G |
possibly damaging |
Het |
| Or2d2 |
A |
G |
7: 106,728,366 (GRCm39) |
V78A |
possibly damaging |
Het |
| Or52z1 |
G |
T |
7: 103,436,941 (GRCm39) |
P181H |
probably benign |
Het |
| Pkd1l1 |
T |
C |
11: 8,897,224 (GRCm39) |
T562A |
|
Het |
| Ppp1r10 |
G |
A |
17: 36,237,331 (GRCm39) |
R167Q |
possibly damaging |
Het |
| Ppp1r13l |
C |
T |
7: 19,103,725 (GRCm39) |
R69W |
probably damaging |
Het |
| Proser2 |
G |
A |
2: 6,105,580 (GRCm39) |
A328V |
probably benign |
Het |
| Rhou |
A |
G |
8: 124,380,914 (GRCm39) |
Y77C |
possibly damaging |
Het |
| Rprml |
T |
A |
11: 103,540,857 (GRCm39) |
L84Q |
probably damaging |
Het |
| Ryr3 |
C |
T |
2: 112,477,271 (GRCm39) |
C4515Y |
probably benign |
Het |
| Slc9a3 |
T |
A |
13: 74,306,994 (GRCm39) |
I373N |
possibly damaging |
Het |
| Snx21 |
C |
T |
2: 164,634,231 (GRCm39) |
A339V |
probably benign |
Het |
| Srpk1 |
G |
A |
17: 28,818,652 (GRCm39) |
P395S |
probably benign |
Het |
| Syt14 |
A |
T |
1: 192,666,449 (GRCm39) |
S152T |
unknown |
Het |
| Urb2 |
G |
T |
8: 124,755,751 (GRCm39) |
R486L |
probably damaging |
Het |
| Utrn |
T |
A |
10: 12,702,564 (GRCm39) |
M7L |
probably benign |
Het |
| Vmn2r59 |
T |
A |
7: 41,708,209 (GRCm39) |
D66V |
probably damaging |
Het |
| Znrf2 |
T |
C |
6: 54,855,370 (GRCm39) |
I197T |
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 |
|
|
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 |
|
|
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'- GAGTTGCTTGACACTCTAGGTCAG -3'
(R):5'- TAGAGGAACTGTGTTGAGCAGC -3'
Sequencing Primer
(F):5'- GCTTGACACTCTAGGTCAGAAATG -3'
(R):5'- TGTTGAGCAGCCCAGTG -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation