Incidental Mutation 'IGL03022:Dynlt5'
ID |
408013 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Dynlt5
|
Ensembl Gene |
ENSMUSG00000028523 |
Gene Name |
dynein light chain Tctex-type 5 |
Synonyms |
1700055O19Rik, Tctex1d1 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.109)
|
Stock # |
IGL03022
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
102835900-102862419 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 102859714 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 85
(T85A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000128228
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030248]
[ENSMUST00000116317]
[ENSMUST00000125417]
[ENSMUST00000140654]
[ENSMUST00000169211]
[ENSMUST00000223169]
|
AlphaFold |
Q9D5I4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000030248
AA Change: T85A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000030248 Gene: ENSMUSG00000028523 AA Change: T85A
Domain | Start | End | E-Value | Type |
Pfam:Tctex-1
|
74 |
171 |
9.8e-28 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000116317
AA Change: T85A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000112019 Gene: ENSMUSG00000028523 AA Change: T85A
Domain | Start | End | E-Value | Type |
Pfam:Tctex-1
|
72 |
172 |
7.7e-29 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000125417
AA Change: T28A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000117319 Gene: ENSMUSG00000028523 AA Change: T28A
Domain | Start | End | E-Value | Type |
Pfam:Tctex-1
|
17 |
114 |
4.5e-28 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000140654
AA Change: T28A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000116692 Gene: ENSMUSG00000028523 AA Change: T28A
Domain | Start | End | E-Value | Type |
Pfam:Tctex-1
|
15 |
99 |
4.6e-24 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148892
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000169211
AA Change: T85A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000128228 Gene: ENSMUSG00000028523 AA Change: T85A
Domain | Start | End | E-Value | Type |
Pfam:Tctex-1
|
15 |
115 |
3.3e-29 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000223169
AA Change: T89A
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acvr2b |
G |
T |
9: 119,256,587 (GRCm39) |
R40L |
probably benign |
Het |
Asph |
T |
C |
4: 9,517,668 (GRCm39) |
N402D |
possibly damaging |
Het |
Brip1 |
T |
C |
11: 85,968,776 (GRCm39) |
Y803C |
probably damaging |
Het |
Cenpc1 |
T |
C |
5: 86,170,234 (GRCm39) |
|
probably benign |
Het |
Fam110b |
A |
G |
4: 5,799,448 (GRCm39) |
M289V |
probably benign |
Het |
Fam193b |
T |
C |
13: 55,691,475 (GRCm39) |
N429S |
probably damaging |
Het |
Folh1 |
T |
C |
7: 86,395,379 (GRCm39) |
Y351C |
possibly damaging |
Het |
Fryl |
G |
A |
5: 73,216,726 (GRCm39) |
A2188V |
possibly damaging |
Het |
Gtf2f1 |
C |
T |
17: 57,317,971 (GRCm39) |
|
probably null |
Het |
Gucy1a1 |
T |
C |
3: 82,016,404 (GRCm39) |
K195E |
probably benign |
Het |
H2-Oa |
T |
C |
17: 34,313,023 (GRCm39) |
V100A |
probably damaging |
Het |
Kcnu1 |
A |
T |
8: 26,427,614 (GRCm39) |
K310N |
probably damaging |
Het |
Mtss1 |
A |
G |
15: 58,825,439 (GRCm39) |
S254P |
probably damaging |
Het |
N4bp2l2 |
A |
G |
5: 150,566,761 (GRCm39) |
S516P |
probably benign |
Het |
Nrcam |
A |
G |
12: 44,645,225 (GRCm39) |
D1139G |
probably damaging |
Het |
Nxpe4 |
T |
C |
9: 48,304,548 (GRCm39) |
S212P |
probably damaging |
Het |
Or1ab2 |
A |
C |
8: 72,863,968 (GRCm39) |
K186T |
probably damaging |
Het |
Or5d47 |
C |
T |
2: 87,804,341 (GRCm39) |
V223I |
probably benign |
Het |
Or5p52 |
A |
T |
7: 107,502,188 (GRCm39) |
H88L |
probably benign |
Het |
Parp2 |
T |
C |
14: 51,058,553 (GRCm39) |
Y528H |
probably damaging |
Het |
Pdgfd |
T |
C |
9: 6,288,495 (GRCm39) |
Y50H |
probably damaging |
Het |
Prkaca |
A |
G |
8: 84,721,976 (GRCm39) |
D329G |
possibly damaging |
Het |
Rbbp8 |
A |
G |
18: 11,858,559 (GRCm39) |
|
probably benign |
Het |
Sele |
A |
G |
1: 163,882,248 (GRCm39) |
T578A |
probably benign |
Het |
Shroom2 |
A |
G |
X: 151,443,089 (GRCm39) |
V692A |
probably benign |
Het |
Stxbp3 |
G |
A |
3: 108,708,072 (GRCm39) |
L410F |
probably damaging |
Het |
Tcaf1 |
C |
A |
6: 42,655,060 (GRCm39) |
G553* |
probably null |
Het |
Ttn |
G |
A |
2: 76,576,862 (GRCm39) |
T24677M |
probably damaging |
Het |
Vmn2r24 |
T |
A |
6: 123,755,967 (GRCm39) |
L13H |
probably damaging |
Het |
Zfp106 |
C |
A |
2: 120,359,120 (GRCm39) |
|
probably benign |
Het |
Zfp616 |
A |
G |
11: 73,973,800 (GRCm39) |
D23G |
possibly damaging |
Het |
Zfp84 |
T |
C |
7: 29,474,759 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Dynlt5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02650:Dynlt5
|
APN |
4 |
102,845,803 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02813:Dynlt5
|
APN |
4 |
102,849,769 (GRCm39) |
missense |
probably damaging |
1.00 |
R0127:Dynlt5
|
UTSW |
4 |
102,859,649 (GRCm39) |
splice site |
probably benign |
|
R0685:Dynlt5
|
UTSW |
4 |
102,859,735 (GRCm39) |
missense |
probably damaging |
1.00 |
R4695:Dynlt5
|
UTSW |
4 |
102,861,426 (GRCm39) |
missense |
probably damaging |
0.98 |
R5274:Dynlt5
|
UTSW |
4 |
102,859,768 (GRCm39) |
missense |
possibly damaging |
0.85 |
R5433:Dynlt5
|
UTSW |
4 |
102,859,700 (GRCm39) |
missense |
possibly damaging |
0.75 |
R5950:Dynlt5
|
UTSW |
4 |
102,861,447 (GRCm39) |
missense |
probably damaging |
1.00 |
R6196:Dynlt5
|
UTSW |
4 |
102,849,766 (GRCm39) |
missense |
possibly damaging |
0.89 |
R6245:Dynlt5
|
UTSW |
4 |
102,845,864 (GRCm39) |
missense |
probably benign |
0.02 |
R9270:Dynlt5
|
UTSW |
4 |
102,845,955 (GRCm39) |
splice site |
probably null |
|
|
Posted On |
2016-08-02 |