Incidental Mutation 'R6369:Axdnd1'
| ID |
512833 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Axdnd1
|
| Ensembl Gene |
ENSMUSG00000026601 |
| Gene Name |
axonemal dynein light chain domain containing 1 |
| Synonyms |
LOC381304, 9430070O13Rik |
| MMRRC Submission |
044519-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.128)
|
| Stock # |
R6369 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
156323509-156421159 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 156392745 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 235
(I235T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135900
(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 damaging
Transcript: ENSMUST00000177824
AA Change: I235T
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000135900
Gene: ENSMUSG00000026601
AA Change: I235T
| 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: I300T
PolyPhen 2
Score 0.518 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000137354
Gene: ENSMUSG00000026601
AA Change: I300T
| 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 |
unknown
Transcript: ENSMUST00000180173
AA Change: I137T
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000213088
AA Change: I300T
PolyPhen 2
Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.4%
|
| Validation Efficiency |
98% (54/55) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afdn |
C |
T |
17: 13,835,343 (GRCm38) |
R571* |
probably null |
Het |
| Asb18 |
A |
T |
1: 90,014,471 (GRCm38) |
I36N |
probably damaging |
Het |
| Ascc3 |
G |
A |
10: 50,699,985 (GRCm38) |
G779S |
probably damaging |
Het |
| Atl2 |
T |
C |
17: 79,854,555 (GRCm38) |
Q205R |
probably damaging |
Het |
| Bri3bp |
A |
G |
5: 125,454,701 (GRCm38) |
N237S |
probably damaging |
Het |
| Ccdc191 |
A |
G |
16: 43,915,485 (GRCm38) |
N256S |
probably benign |
Het |
| Cchcr1 |
T |
C |
17: 35,528,176 (GRCm38) |
I474T |
probably damaging |
Het |
| Cd209c |
T |
C |
8: 3,944,984 (GRCm38) |
Y60C |
probably damaging |
Het |
| Cd300c |
C |
A |
11: 114,957,555 (GRCm38) |
D171Y |
probably damaging |
Het |
| Crb1 |
C |
T |
1: 139,237,462 (GRCm38) |
V975M |
probably damaging |
Het |
| Csmd1 |
C |
T |
8: 17,535,004 (GRCm38) |
|
probably benign |
Het |
| Ctnna2 |
A |
G |
6: 76,980,695 (GRCm38) |
S524P |
possibly damaging |
Het |
| Eno1 |
T |
C |
4: 150,239,568 (GRCm38) |
|
probably null |
Het |
| Ero1l |
T |
C |
14: 45,299,958 (GRCm38) |
I170M |
probably damaging |
Het |
| Fam186a |
A |
G |
15: 99,947,331 (GRCm38) |
M344T |
unknown |
Het |
| Frem1 |
A |
T |
4: 82,913,792 (GRCm38) |
|
probably null |
Het |
| Gjb5 |
G |
T |
4: 127,355,930 (GRCm38) |
D140E |
possibly damaging |
Het |
| Gm11595 |
G |
A |
11: 99,772,555 (GRCm38) |
R100C |
unknown |
Het |
| Hk2 |
G |
T |
6: 82,736,753 (GRCm38) |
S449R |
probably damaging |
Het |
| Hs3st3a1 |
A |
T |
11: 64,520,601 (GRCm38) |
I322F |
probably benign |
Het |
| Itga1 |
T |
C |
13: 114,965,660 (GRCm38) |
I1145V |
probably damaging |
Het |
| Kcp |
A |
G |
6: 29,484,694 (GRCm38) |
L1295S |
probably damaging |
Het |
| Macf1 |
T |
C |
4: 123,410,562 (GRCm38) |
D49G |
possibly damaging |
Het |
| Mef2b |
T |
A |
8: 70,165,559 (GRCm38) |
D96E |
probably benign |
Het |
| Megf10 |
A |
T |
18: 57,261,187 (GRCm38) |
D461V |
probably benign |
Het |
| Myom1 |
T |
C |
17: 71,101,076 (GRCm38) |
S1104P |
probably damaging |
Het |
| Nab1 |
A |
G |
1: 52,490,222 (GRCm38) |
L172P |
probably damaging |
Het |
| Olfr123 |
T |
G |
17: 37,795,496 (GRCm38) |
D17E |
probably benign |
Het |
| Pate1 |
A |
G |
9: 35,687,028 (GRCm38) |
V18A |
probably benign |
Het |
| Pink1 |
T |
C |
4: 138,320,734 (GRCm38) |
|
probably null |
Het |
| Pnpla1 |
T |
A |
17: 28,878,481 (GRCm38) |
I207N |
probably damaging |
Het |
| Ppp1r12b |
T |
C |
1: 134,886,542 (GRCm38) |
E341G |
possibly damaging |
Het |
| Ppp1r21 |
C |
A |
17: 88,582,412 (GRCm38) |
|
probably null |
Het |
| Rad52 |
A |
G |
6: 119,914,207 (GRCm38) |
E76G |
unknown |
Het |
| Rad54l |
A |
G |
4: 116,111,189 (GRCm38) |
|
probably null |
Het |
| Rasgrf2 |
T |
C |
13: 92,131,446 (GRCm38) |
M17V |
probably benign |
Het |
| Rbm42 |
A |
G |
7: 30,641,313 (GRCm38) |
M411T |
unknown |
Het |
| Reln |
A |
G |
5: 22,051,361 (GRCm38) |
I495T |
probably benign |
Het |
| Rnf224 |
A |
G |
2: 25,235,942 (GRCm38) |
F133S |
probably damaging |
Het |
| Rrm1 |
C |
A |
7: 102,446,702 (GRCm38) |
H87Q |
probably damaging |
Het |
| Sec14l2 |
T |
C |
11: 4,103,962 (GRCm38) |
D235G |
possibly damaging |
Het |
| Serpinb3d |
G |
T |
1: 107,080,753 (GRCm38) |
N127K |
probably benign |
Het |
| Skint7 |
A |
T |
4: 111,980,293 (GRCm38) |
E89D |
probably benign |
Het |
| Slc22a5 |
T |
G |
11: 53,891,370 (GRCm38) |
N57T |
probably damaging |
Het |
| Smarcd3 |
A |
T |
5: 24,594,984 (GRCm38) |
F263I |
probably damaging |
Het |
| Sncaip |
A |
G |
18: 52,868,604 (GRCm38) |
I66V |
probably damaging |
Het |
| Syngr1 |
A |
C |
15: 80,115,590 (GRCm38) |
|
probably benign |
Het |
| Tbc1d2 |
A |
G |
4: 46,614,420 (GRCm38) |
Y554H |
probably benign |
Het |
| Tmem198 |
T |
C |
1: 75,479,743 (GRCm38) |
V44A |
probably benign |
Het |
| Trappc11 |
T |
C |
8: 47,512,285 (GRCm38) |
|
probably null |
Het |
| Uox |
C |
T |
3: 146,624,577 (GRCm38) |
R163* |
probably null |
Het |
| Vmn2r111 |
C |
T |
17: 22,548,602 (GRCm38) |
C638Y |
probably damaging |
Het |
| Washc4 |
A |
G |
10: 83,574,444 (GRCm38) |
Y632C |
probably damaging |
Het |
| Zfp212 |
T |
C |
6: 47,930,897 (GRCm38) |
V270A |
probably benign |
Het |
| Zfp92 |
G |
A |
X: 73,421,968 (GRCm38) |
R189H |
possibly damaging |
Homo |
|
| 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 |
|
|
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 |
|
|
R7115:Axdnd1
|
UTSW |
1 |
156,380,876 (GRCm38) |
missense |
|
|
|
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'- CTGTGGTTAGCATTTCCTACAGG -3'
(R):5'- ATGTGGTTCCTCTCAAAAGGG -3'
Sequencing Primer
(F):5'- TTCCTACAGGTAAAGACAAGGCTCTG -3'
(R):5'- GACACGTCTTGTCTTTGG -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation