Incidental Mutation 'IGL01540:Trabd'
ID |
90124 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Trabd
|
Ensembl Gene |
ENSMUSG00000015363 |
Gene Name |
TraB domain containing |
Synonyms |
5730502D15Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01540
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
88960267-88971278 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 88968998 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 172
(E172G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000131228
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081702]
[ENSMUST00000082439]
[ENSMUST00000130700]
[ENSMUST00000165690]
[ENSMUST00000168863]
[ENSMUST00000169870]
[ENSMUST00000169891]
|
AlphaFold |
Q99JY4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000081702
AA Change: E172G
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000080403 Gene: ENSMUSG00000015363 AA Change: E172G
Domain | Start | End | E-Value | Type |
low complexity region
|
44 |
56 |
N/A |
INTRINSIC |
Pfam:TraB
|
63 |
367 |
8e-49 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000082439
|
SMART Domains |
Protein: ENSMUSP00000081020 Gene: ENSMUSG00000035757
Domain | Start | End | E-Value | Type |
low complexity region
|
24 |
38 |
N/A |
INTRINSIC |
Pfam:UPF0061
|
79 |
625 |
8.3e-131 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000130700
|
SMART Domains |
Protein: ENSMUSP00000138382 Gene: ENSMUSG00000035757
Domain | Start | End | E-Value | Type |
low complexity region
|
24 |
38 |
N/A |
INTRINSIC |
Pfam:UPF0061
|
80 |
241 |
1.5e-39 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000163696
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000165690
AA Change: E172G
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000131228 Gene: ENSMUSG00000015363 AA Change: E172G
Domain | Start | End | E-Value | Type |
low complexity region
|
44 |
56 |
N/A |
INTRINSIC |
Pfam:TraB
|
63 |
310 |
9.9e-31 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000168863
AA Change: E172G
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000130292 Gene: ENSMUSG00000015363 AA Change: E172G
Domain | Start | End | E-Value | Type |
low complexity region
|
44 |
56 |
N/A |
INTRINSIC |
Pfam:TraB
|
63 |
235 |
1e-33 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000169870
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000169891
AA Change: E172G
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000128721 Gene: ENSMUSG00000015363 AA Change: E172G
Domain | Start | End | E-Value | Type |
low complexity region
|
44 |
56 |
N/A |
INTRINSIC |
Pfam:TraB
|
63 |
276 |
8.8e-44 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170754
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 20 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrb3 |
A |
G |
1: 25,151,252 (GRCm39) |
|
probably null |
Het |
Ceacam12 |
T |
C |
7: 17,805,727 (GRCm39) |
|
probably benign |
Het |
Cyp2j13 |
A |
T |
4: 95,956,959 (GRCm39) |
|
probably benign |
Het |
Golim4 |
T |
G |
3: 75,794,047 (GRCm39) |
E538A |
possibly damaging |
Het |
Gstcd |
A |
T |
3: 132,692,175 (GRCm39) |
V580D |
probably damaging |
Het |
Hspg2 |
A |
G |
4: 137,247,017 (GRCm39) |
T1115A |
probably damaging |
Het |
Maea |
T |
C |
5: 33,515,910 (GRCm39) |
S18P |
probably benign |
Het |
Mertk |
T |
C |
2: 128,625,887 (GRCm39) |
L674P |
probably damaging |
Het |
Nol8 |
A |
T |
13: 49,815,146 (GRCm39) |
Q400L |
probably benign |
Het |
Nt5el |
T |
C |
13: 105,218,761 (GRCm39) |
S32P |
possibly damaging |
Het |
Or10a3b |
G |
T |
7: 108,444,887 (GRCm39) |
T110N |
probably damaging |
Het |
Or6b2 |
A |
G |
1: 92,408,202 (GRCm39) |
L47P |
probably damaging |
Het |
Pycard |
T |
A |
7: 127,592,002 (GRCm39) |
D113V |
probably benign |
Het |
S100z |
G |
A |
13: 95,613,861 (GRCm39) |
T83M |
probably damaging |
Het |
Sacs |
A |
G |
14: 61,429,084 (GRCm39) |
D381G |
possibly damaging |
Het |
Spata31h1 |
A |
T |
10: 82,120,016 (GRCm39) |
H4331Q |
possibly damaging |
Het |
Tbpl2 |
T |
C |
2: 23,984,985 (GRCm39) |
H53R |
probably benign |
Het |
Tlr6 |
T |
C |
5: 65,112,629 (GRCm39) |
R93G |
probably damaging |
Het |
Vrk3 |
A |
G |
7: 44,416,568 (GRCm39) |
H277R |
probably damaging |
Het |
Zfp512 |
T |
C |
5: 31,630,840 (GRCm39) |
V338A |
probably damaging |
Het |
|
Other mutations in Trabd |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R0355:Trabd
|
UTSW |
15 |
88,969,816 (GRCm39) |
missense |
possibly damaging |
0.53 |
R0603:Trabd
|
UTSW |
15 |
88,966,929 (GRCm39) |
missense |
probably damaging |
1.00 |
R1658:Trabd
|
UTSW |
15 |
88,970,069 (GRCm39) |
splice site |
probably null |
|
R1806:Trabd
|
UTSW |
15 |
88,969,824 (GRCm39) |
missense |
possibly damaging |
0.96 |
R1883:Trabd
|
UTSW |
15 |
88,966,184 (GRCm39) |
missense |
probably damaging |
0.98 |
R2015:Trabd
|
UTSW |
15 |
88,968,929 (GRCm39) |
missense |
possibly damaging |
0.55 |
R4507:Trabd
|
UTSW |
15 |
88,969,833 (GRCm39) |
missense |
probably damaging |
0.97 |
R4653:Trabd
|
UTSW |
15 |
88,970,042 (GRCm39) |
missense |
probably damaging |
1.00 |
R4842:Trabd
|
UTSW |
15 |
88,966,915 (GRCm39) |
missense |
probably benign |
0.33 |
R5364:Trabd
|
UTSW |
15 |
88,967,007 (GRCm39) |
splice site |
probably benign |
|
R5561:Trabd
|
UTSW |
15 |
88,966,187 (GRCm39) |
missense |
probably benign |
0.28 |
R7378:Trabd
|
UTSW |
15 |
88,969,493 (GRCm39) |
missense |
possibly damaging |
0.56 |
R7843:Trabd
|
UTSW |
15 |
88,966,157 (GRCm39) |
missense |
possibly damaging |
0.94 |
R8157:Trabd
|
UTSW |
15 |
88,970,024 (GRCm39) |
missense |
probably damaging |
1.00 |
R8331:Trabd
|
UTSW |
15 |
88,969,131 (GRCm39) |
missense |
probably damaging |
0.99 |
R8353:Trabd
|
UTSW |
15 |
88,969,616 (GRCm39) |
missense |
possibly damaging |
0.69 |
R8443:Trabd
|
UTSW |
15 |
88,970,107 (GRCm39) |
missense |
probably benign |
0.41 |
R8453:Trabd
|
UTSW |
15 |
88,969,616 (GRCm39) |
missense |
possibly damaging |
0.69 |
R8739:Trabd
|
UTSW |
15 |
88,969,152 (GRCm39) |
missense |
probably damaging |
1.00 |
R8850:Trabd
|
UTSW |
15 |
88,969,667 (GRCm39) |
splice site |
probably benign |
|
R9021:Trabd
|
UTSW |
15 |
88,968,913 (GRCm39) |
missense |
possibly damaging |
0.46 |
R9425:Trabd
|
UTSW |
15 |
88,969,496 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Trabd
|
UTSW |
15 |
88,969,139 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Trabd
|
UTSW |
15 |
88,960,798 (GRCm39) |
intron |
probably benign |
|
|
Posted On |
2013-12-03 |