Incidental Mutation 'R4534:Thoc5'
| ID |
333249 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R4534 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
4845339-4878867 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 4874807 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 533
(R533*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099137
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038237]
[ENSMUST00000101615]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000038237
AA Change: R581*
|
| SMART Domains |
Protein: ENSMUSP00000045580
Gene: ENSMUSG00000034274
AA Change: R581*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FimP
|
97 |
452 |
1.1e-133 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000101615
AA Change: R533*
|
| SMART Domains |
Protein: ENSMUSP00000099137
Gene: ENSMUSG00000034274
AA Change: R533*
| 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: ENSMUST00000155872
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Angptl3 |
C |
T |
4: 98,926,232 (GRCm39) |
T454I |
possibly damaging |
Het |
| Arhgef4 |
T |
C |
1: 34,762,162 (GRCm39) |
S473P |
unknown |
Het |
| Carmil3 |
GGACGA |
GGA |
14: 55,736,933 (GRCm39) |
|
probably benign |
Het |
| Cd200r3 |
T |
A |
16: 44,774,552 (GRCm39) |
D188E |
probably benign |
Het |
| Clstn3 |
C |
T |
6: 124,436,179 (GRCm39) |
R190Q |
probably damaging |
Het |
| Dennd2b |
A |
T |
7: 109,130,363 (GRCm39) |
S879R |
probably damaging |
Het |
| Depdc5 |
CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT |
CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT |
5: 33,067,751 (GRCm39) |
|
probably benign |
Het |
| Dnaaf5 |
C |
T |
5: 139,137,282 (GRCm39) |
Q212* |
probably null |
Het |
| Efcc1 |
A |
G |
6: 87,730,133 (GRCm39) |
D482G |
probably null |
Het |
| Eri2 |
T |
C |
7: 119,389,466 (GRCm39) |
T151A |
probably damaging |
Het |
| Exoc4 |
C |
T |
6: 33,254,179 (GRCm39) |
R112C |
probably damaging |
Het |
| Fyco1 |
A |
G |
9: 123,667,953 (GRCm39) |
V91A |
probably damaging |
Het |
| Gm10320 |
G |
A |
13: 98,626,316 (GRCm39) |
P23S |
probably benign |
Het |
| Hbs1l |
A |
G |
10: 21,217,814 (GRCm39) |
I240M |
possibly damaging |
Het |
| Heatr5b |
T |
C |
17: 79,118,025 (GRCm39) |
H806R |
possibly damaging |
Het |
| Herc3 |
T |
C |
6: 58,837,332 (GRCm39) |
V335A |
probably benign |
Het |
| Ifi205 |
G |
A |
1: 173,845,207 (GRCm39) |
P192S |
probably benign |
Het |
| Ifna6 |
C |
A |
4: 88,746,086 (GRCm39) |
T145K |
probably benign |
Het |
| Ifna6 |
G |
C |
4: 88,746,099 (GRCm39) |
R149S |
probably benign |
Het |
| Ifna9 |
T |
C |
4: 88,510,285 (GRCm39) |
H113R |
possibly damaging |
Het |
| Il17rd |
T |
C |
14: 26,818,019 (GRCm39) |
F236S |
probably damaging |
Het |
| Incenp |
T |
C |
19: 9,861,303 (GRCm39) |
N450S |
unknown |
Het |
| Jmjd8 |
C |
T |
17: 26,047,984 (GRCm39) |
|
probably null |
Het |
| Lhx3 |
C |
T |
2: 26,094,026 (GRCm39) |
V66I |
probably benign |
Het |
| Nt5c2 |
C |
T |
19: 46,880,100 (GRCm39) |
C336Y |
probably damaging |
Het |
| Ntrk2 |
G |
A |
13: 59,274,343 (GRCm39) |
V740I |
probably damaging |
Het |
| Ocln |
A |
T |
13: 100,648,112 (GRCm39) |
I104N |
possibly damaging |
Het |
| Or14j8 |
T |
C |
17: 38,263,613 (GRCm39) |
I101V |
probably benign |
Het |
| Or8g54 |
G |
T |
9: 39,707,296 (GRCm39) |
L208F |
probably benign |
Het |
| Ppp1r3c |
T |
C |
19: 36,711,522 (GRCm39) |
K83E |
probably damaging |
Het |
| Sh3glb1 |
T |
A |
3: 144,405,624 (GRCm39) |
E77D |
possibly damaging |
Het |
| Slc38a3 |
T |
C |
9: 107,533,405 (GRCm39) |
N251S |
probably benign |
Het |
| Spopfm2 |
T |
C |
3: 94,083,757 (GRCm39) |
Y18C |
probably benign |
Het |
| Stox2 |
A |
T |
8: 47,646,414 (GRCm39) |
S287T |
probably damaging |
Het |
| Sycp2 |
C |
A |
2: 177,996,802 (GRCm39) |
V1134F |
probably damaging |
Het |
| Tenm2 |
C |
T |
11: 35,953,931 (GRCm39) |
S1260N |
possibly damaging |
Het |
| Tfpi2 |
T |
C |
6: 3,968,044 (GRCm39) |
N32S |
possibly damaging |
Het |
| Ttll2 |
A |
T |
17: 7,619,120 (GRCm39) |
I269N |
probably benign |
Het |
| Uchl5 |
C |
T |
1: 143,661,954 (GRCm39) |
T76I |
probably benign |
Het |
| Vmn2r102 |
A |
G |
17: 19,914,975 (GRCm39) |
T847A |
probably benign |
Het |
| Xpa |
T |
C |
4: 46,185,624 (GRCm39) |
N118S |
probably benign |
Het |
| Xrcc3 |
A |
G |
12: 111,770,966 (GRCm39) |
L321P |
probably damaging |
Het |
| Xylt2 |
T |
C |
11: 94,557,176 (GRCm39) |
D105G |
probably benign |
Het |
|
| Other mutations in Thoc5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00790:Thoc5
|
APN |
11 |
4,868,147 (GRCm39) |
missense |
probably damaging |
0.96 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCTCAGCTTGCATCCTAAAG -3'
(R):5'- GTGAGCACGTTCTGTAAATCCTG -3'
Sequencing Primer
(F):5'- GCTTGCATCCTAAAGCAGTC -3'
(R):5'- CACGTTCTGTAAATCCTGGTAAGGC -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation