Incidental Mutation 'IGL01151:Thumpd1'
| ID |
51679 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Thumpd1
|
| Ensembl Gene |
ENSMUSG00000030942 |
| Gene Name |
THUMP domain containing 1 |
| Synonyms |
6330575P11Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.187)
|
| Stock # |
IGL01151
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
119314316-119320021 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 119317418 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 161
(R161Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033236
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033236]
[ENSMUST00000047045]
|
| AlphaFold |
Q99J36 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000033236
AA Change: R161Q
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000033236
Gene: ENSMUSG00000030942
AA Change: R161Q
| Domain | Start | End | E-Value | Type |
|---|
|
THUMP
|
161 |
254 |
4.5e-13 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047045
|
| SMART Domains |
Protein: ENSMUSP00000045160
Gene: ENSMUSG00000047026
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AMP-binding
|
64 |
478 |
5.8e-83 |
PFAM |
|
Pfam:AMP-binding_C
|
486 |
566 |
1.4e-22 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208774
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209175
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(1) : Gene trapped(1) |
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
T |
C |
13: 81,553,518 (GRCm39) |
Q5452R |
probably benign |
Het |
| Ankrd42 |
A |
G |
7: 92,254,408 (GRCm39) |
|
probably benign |
Het |
| Camk2g |
T |
C |
14: 20,816,027 (GRCm39) |
D157G |
probably damaging |
Het |
| Cd55b |
A |
T |
1: 130,350,643 (GRCm39) |
V18E |
possibly damaging |
Het |
| Ep300 |
T |
A |
15: 81,507,673 (GRCm39) |
|
probably benign |
Het |
| Fbxw26 |
A |
G |
9: 109,550,848 (GRCm39) |
V393A |
possibly damaging |
Het |
| Fkbp4 |
T |
C |
6: 128,412,754 (GRCm39) |
T59A |
probably benign |
Het |
| Gbp5 |
T |
C |
3: 142,206,355 (GRCm39) |
L13P |
probably damaging |
Het |
| Gpr161 |
G |
T |
1: 165,149,078 (GRCm39) |
L482F |
probably damaging |
Het |
| Il6st |
T |
A |
13: 112,630,185 (GRCm39) |
S344T |
probably benign |
Het |
| Itpr3 |
T |
G |
17: 27,310,503 (GRCm39) |
F429V |
probably damaging |
Het |
| Kbtbd11 |
G |
T |
8: 15,079,176 (GRCm39) |
D592Y |
probably damaging |
Het |
| Magi3 |
C |
A |
3: 103,958,690 (GRCm39) |
G465V |
probably damaging |
Het |
| Naip6 |
T |
A |
13: 100,435,601 (GRCm39) |
Y974F |
probably benign |
Het |
| Nek1 |
A |
G |
8: 61,473,111 (GRCm39) |
Y169C |
probably damaging |
Het |
| Nos1ap |
A |
T |
1: 170,416,845 (GRCm39) |
I30N |
probably damaging |
Het |
| Obox5 |
T |
C |
7: 15,492,516 (GRCm39) |
I157T |
possibly damaging |
Het |
| Or10ag60 |
A |
T |
2: 87,438,323 (GRCm39) |
D197V |
probably damaging |
Het |
| Pcdhb10 |
T |
A |
18: 37,545,248 (GRCm39) |
I108N |
probably damaging |
Het |
| Pgf |
A |
G |
12: 85,218,510 (GRCm39) |
L80P |
probably damaging |
Het |
| Rpgrip1l |
A |
G |
8: 92,001,777 (GRCm39) |
L459P |
probably damaging |
Het |
| Slc9a1 |
A |
T |
4: 133,139,300 (GRCm39) |
I173F |
probably damaging |
Het |
| Taf15 |
T |
C |
11: 83,378,197 (GRCm39) |
S146P |
possibly damaging |
Het |
| Tedc1 |
C |
T |
12: 113,126,808 (GRCm39) |
R357* |
probably null |
Het |
| Tjp2 |
A |
G |
19: 24,116,174 (GRCm39) |
I5T |
possibly damaging |
Het |
| Umod |
A |
G |
7: 119,076,442 (GRCm39) |
V108A |
possibly damaging |
Het |
| Usp38 |
A |
T |
8: 81,740,469 (GRCm39) |
S199R |
probably damaging |
Het |
| Vmn2r73 |
T |
A |
7: 85,507,086 (GRCm39) |
Y742F |
probably damaging |
Het |
|
| Other mutations in Thumpd1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00952:Thumpd1
|
APN |
7 |
119,316,232 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01327:Thumpd1
|
APN |
7 |
119,319,925 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL02140:Thumpd1
|
APN |
7 |
119,316,232 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02945:Thumpd1
|
APN |
7 |
119,315,970 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
F6893:Thumpd1
|
UTSW |
7 |
119,319,799 (GRCm39) |
nonsense |
probably null |
|
|
R4153:Thumpd1
|
UTSW |
7 |
119,319,816 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4934:Thumpd1
|
UTSW |
7 |
119,316,002 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5475:Thumpd1
|
UTSW |
7 |
119,319,943 (GRCm39) |
missense |
probably benign |
|
|
R5631:Thumpd1
|
UTSW |
7 |
119,319,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6123:Thumpd1
|
UTSW |
7 |
119,316,232 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6292:Thumpd1
|
UTSW |
7 |
119,319,897 (GRCm39) |
missense |
probably benign |
0.38 |
|
R6351:Thumpd1
|
UTSW |
7 |
119,319,828 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7565:Thumpd1
|
UTSW |
7 |
119,316,085 (GRCm39) |
nonsense |
probably null |
|
|
R8139:Thumpd1
|
UTSW |
7 |
119,319,808 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8951:Thumpd1
|
UTSW |
7 |
119,317,471 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
| Posted On |
2013-06-21 |
Incidental Mutation