Incidental Mutation 'IGL00790:Thoc5'
| ID |
14456 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Thoc5
|
| Ensembl Gene |
ENSMUSG00000034274 |
| Gene Name |
THO complex 5 |
| Synonyms |
Fmip, PK1.3, 1700060C24Rik, A430085L24Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL00790
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
4845339-4878867 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 4868147 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glycine
at position 275
(V275G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118940
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038237]
[ENSMUST00000101615]
[ENSMUST00000142543]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000038237
AA Change: V400G
PolyPhen 2
Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000045580
Gene: ENSMUSG00000034274
AA Change: V400G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FimP
|
97 |
452 |
1.1e-133 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000101615
AA Change: V352G
PolyPhen 2
Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000099137
Gene: ENSMUSG00000034274
AA Change: V352G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
34 |
41 |
N/A |
INTRINSIC |
|
Pfam:FimP
|
48 |
405 |
7.5e-142 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000121125
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000142543
AA Change: V275G
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000118940
Gene: ENSMUSG00000034274
AA Change: V275G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FimP
|
1 |
301 |
1.3e-97 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144371
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155872
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality prior to E5.5. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd12 |
A |
T |
17: 66,291,175 (GRCm39) |
N1419K |
probably benign |
Het |
| Arhgef18 |
A |
G |
8: 3,479,553 (GRCm39) |
E79G |
probably damaging |
Het |
| Art4 |
T |
A |
6: 136,831,493 (GRCm39) |
Q216L |
probably damaging |
Het |
| Bbs4 |
T |
C |
9: 59,231,348 (GRCm39) |
D407G |
probably benign |
Het |
| Cherp |
A |
G |
8: 73,222,090 (GRCm39) |
I277T |
probably damaging |
Het |
| Cnot2 |
A |
G |
10: 116,342,976 (GRCm39) |
M119T |
probably benign |
Het |
| Disp2 |
T |
A |
2: 118,616,759 (GRCm39) |
C73S |
probably damaging |
Het |
| Dock4 |
T |
C |
12: 40,884,390 (GRCm39) |
S1686P |
probably damaging |
Het |
| Dsc1 |
C |
T |
18: 20,227,953 (GRCm39) |
G468S |
probably damaging |
Het |
| Duox2 |
T |
A |
2: 122,122,781 (GRCm39) |
D551V |
possibly damaging |
Het |
| Gmip |
T |
A |
8: 70,269,661 (GRCm39) |
Y585* |
probably null |
Het |
| Gnal |
A |
G |
18: 67,267,360 (GRCm39) |
|
probably null |
Het |
| Idh1 |
T |
G |
1: 65,205,281 (GRCm39) |
Q228P |
possibly damaging |
Het |
| Igsf10 |
A |
T |
3: 59,226,938 (GRCm39) |
I2245N |
probably damaging |
Het |
| Mrgpra4 |
A |
T |
7: 47,631,052 (GRCm39) |
M183K |
possibly damaging |
Het |
| Npr2 |
T |
A |
4: 43,641,612 (GRCm39) |
V472D |
possibly damaging |
Het |
| Pcdh7 |
A |
T |
5: 57,878,806 (GRCm39) |
N787I |
probably damaging |
Het |
| Phf8-ps |
A |
G |
17: 33,286,361 (GRCm39) |
V147A |
probably damaging |
Het |
| Ppp1r10 |
A |
T |
17: 36,235,751 (GRCm39) |
N111I |
probably damaging |
Het |
| Ppp3ca |
A |
G |
3: 136,640,942 (GRCm39) |
N508D |
probably benign |
Het |
| Rgs17 |
A |
G |
10: 5,862,624 (GRCm38) |
Q25P |
possibly damaging |
Het |
| Slco6d1 |
T |
A |
1: 98,348,925 (GRCm39) |
|
probably benign |
Het |
| Tab3 |
T |
A |
X: 84,665,210 (GRCm39) |
N591K |
probably damaging |
Het |
| Tfcp2 |
T |
C |
15: 100,411,059 (GRCm39) |
|
probably benign |
Het |
| Them5 |
A |
T |
3: 94,250,716 (GRCm39) |
D93V |
probably damaging |
Het |
| Trmt1l |
T |
C |
1: 151,318,463 (GRCm39) |
|
probably null |
Het |
| Zdbf2 |
G |
T |
1: 63,345,673 (GRCm39) |
V1351F |
possibly damaging |
Het |
| Zfp14 |
G |
T |
7: 29,738,312 (GRCm39) |
Y224* |
probably null |
Het |
| Zfp606 |
T |
G |
7: 12,228,159 (GRCm39) |
M702R |
probably damaging |
Het |
|
| Other mutations in Thoc5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02039:Thoc5
|
APN |
11 |
4,872,027 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02227:Thoc5
|
APN |
11 |
4,876,217 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02970:Thoc5
|
APN |
11 |
4,854,201 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0398:Thoc5
|
UTSW |
11 |
4,871,978 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R0401:Thoc5
|
UTSW |
11 |
4,852,213 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R0453:Thoc5
|
UTSW |
11 |
4,868,217 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R1223:Thoc5
|
UTSW |
11 |
4,871,922 (GRCm39) |
missense |
probably benign |
0.40 |
|
R1438:Thoc5
|
UTSW |
11 |
4,861,427 (GRCm39) |
splice site |
probably benign |
|
|
R1661:Thoc5
|
UTSW |
11 |
4,869,792 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1665:Thoc5
|
UTSW |
11 |
4,869,792 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1776:Thoc5
|
UTSW |
11 |
4,864,517 (GRCm39) |
splice site |
probably benign |
|
|
R1830:Thoc5
|
UTSW |
11 |
4,864,608 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1912:Thoc5
|
UTSW |
11 |
4,865,561 (GRCm39) |
missense |
probably benign |
0.15 |
|
R3001:Thoc5
|
UTSW |
11 |
4,878,688 (GRCm39) |
missense |
probably benign |
|
|
R3002:Thoc5
|
UTSW |
11 |
4,878,688 (GRCm39) |
missense |
probably benign |
|
|
R3783:Thoc5
|
UTSW |
11 |
4,870,372 (GRCm39) |
unclassified |
probably benign |
|
|
R4534:Thoc5
|
UTSW |
11 |
4,874,807 (GRCm39) |
nonsense |
probably null |
|
|
R4619:Thoc5
|
UTSW |
11 |
4,876,218 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4747:Thoc5
|
UTSW |
11 |
4,854,187 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5106:Thoc5
|
UTSW |
11 |
4,860,630 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5310:Thoc5
|
UTSW |
11 |
4,860,648 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5914:Thoc5
|
UTSW |
11 |
4,870,416 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R5936:Thoc5
|
UTSW |
11 |
4,854,133 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6167:Thoc5
|
UTSW |
11 |
4,865,497 (GRCm39) |
missense |
probably benign |
0.12 |
|
R6209:Thoc5
|
UTSW |
11 |
4,855,697 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6243:Thoc5
|
UTSW |
11 |
4,869,753 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R6504:Thoc5
|
UTSW |
11 |
4,874,815 (GRCm39) |
nonsense |
probably null |
|
|
R6833:Thoc5
|
UTSW |
11 |
4,869,804 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6874:Thoc5
|
UTSW |
11 |
4,851,261 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7048:Thoc5
|
UTSW |
11 |
4,876,237 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7197:Thoc5
|
UTSW |
11 |
4,865,563 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7753:Thoc5
|
UTSW |
11 |
4,852,156 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7828:Thoc5
|
UTSW |
11 |
4,852,306 (GRCm39) |
start gained |
probably benign |
|
|
R8416:Thoc5
|
UTSW |
11 |
4,876,068 (GRCm39) |
missense |
probably benign |
0.41 |
|
R8428:Thoc5
|
UTSW |
11 |
4,876,115 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8673:Thoc5
|
UTSW |
11 |
4,876,061 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R8964:Thoc5
|
UTSW |
11 |
4,860,647 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R9214:Thoc5
|
UTSW |
11 |
4,864,303 (GRCm39) |
missense |
probably benign |
0.13 |
|
R9651:Thoc5
|
UTSW |
11 |
4,849,883 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
| Posted On |
2012-12-06 |
Incidental Mutation