Incidental Mutation 'R6504:Thoc5'
| ID |
523630 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Thoc5
|
| Ensembl Gene |
ENSMUSG00000034274 |
| Gene Name |
THO complex 5 |
| Synonyms |
Fmip, PK1.3, 1700060C24Rik, A430085L24Rik |
| MMRRC Submission |
044636-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6504 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
4845339-4878867 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 4874815 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 535
(C535*)
|
| 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: C583*
|
| SMART Domains |
Protein: ENSMUSP00000045580
Gene: ENSMUSG00000034274
AA Change: C583*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FimP
|
97 |
452 |
1.1e-133 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000101615
AA Change: C535*
|
| SMART Domains |
Protein: ENSMUSP00000099137
Gene: ENSMUSG00000034274
AA Change: C535*
| 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: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.5%
|
| Validation Efficiency |
100% (35/35) |
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700006A11Rik |
T |
C |
3: 124,213,569 (GRCm39) |
T31A |
probably benign |
Het |
| Adam12 |
A |
T |
7: 133,531,713 (GRCm39) |
H507Q |
probably damaging |
Het |
| Ampd1 |
A |
G |
3: 103,006,911 (GRCm39) |
D712G |
possibly damaging |
Het |
| Ap4m1 |
T |
A |
5: 138,176,358 (GRCm39) |
D351E |
probably benign |
Het |
| Celsr1 |
T |
C |
15: 85,863,121 (GRCm39) |
T1304A |
probably benign |
Het |
| Dhx36 |
G |
T |
3: 62,396,060 (GRCm39) |
A449E |
probably benign |
Het |
| Dmkn |
A |
T |
7: 30,475,854 (GRCm39) |
K2N |
possibly damaging |
Het |
| Dnah10 |
T |
C |
5: 124,839,846 (GRCm39) |
I1217T |
possibly damaging |
Het |
| Dph5 |
A |
G |
3: 115,720,452 (GRCm39) |
|
probably null |
Het |
| Dysf |
T |
C |
6: 83,985,907 (GRCm39) |
V4A |
probably benign |
Het |
| Elavl4 |
A |
T |
4: 110,112,579 (GRCm39) |
|
probably null |
Het |
| Ep400 |
T |
C |
5: 110,856,703 (GRCm39) |
|
probably benign |
Het |
| Fat2 |
A |
G |
11: 55,153,223 (GRCm39) |
I3663T |
probably benign |
Het |
| Gm7233 |
T |
A |
14: 43,037,394 (GRCm39) |
D15E |
probably benign |
Het |
| Grik2 |
A |
G |
10: 49,232,198 (GRCm39) |
V444A |
probably damaging |
Het |
| Hdac4 |
T |
A |
1: 91,896,177 (GRCm39) |
I698F |
possibly damaging |
Het |
| Kank1 |
T |
C |
19: 25,405,518 (GRCm39) |
S1179P |
probably damaging |
Het |
| Kif1b |
T |
C |
4: 149,277,053 (GRCm39) |
M1337V |
probably benign |
Het |
| Med13l |
T |
A |
5: 118,892,386 (GRCm39) |
D1936E |
probably benign |
Het |
| Ofcc1 |
A |
T |
13: 40,250,531 (GRCm39) |
L595Q |
probably damaging |
Het |
| Or10d3 |
C |
T |
9: 39,461,574 (GRCm39) |
V198M |
probably damaging |
Het |
| Or5b110-ps1 |
A |
C |
19: 13,259,848 (GRCm39) |
H191Q |
possibly damaging |
Het |
| Orc1 |
A |
G |
4: 108,447,914 (GRCm39) |
I54V |
probably benign |
Het |
| Pom121l2 |
A |
G |
13: 22,167,631 (GRCm39) |
Q634R |
possibly damaging |
Het |
| Prrc2c |
A |
G |
1: 162,525,364 (GRCm39) |
V414A |
unknown |
Het |
| Ranbp3l |
T |
C |
15: 8,997,946 (GRCm39) |
F13L |
probably benign |
Het |
| Scaf11 |
T |
C |
15: 96,317,341 (GRCm39) |
|
probably null |
Het |
| Sh3d19 |
A |
G |
3: 85,992,643 (GRCm39) |
T224A |
probably benign |
Het |
| Shq1 |
T |
A |
6: 100,625,208 (GRCm39) |
Y217F |
probably benign |
Het |
| Slitrk1 |
A |
T |
14: 109,149,129 (GRCm39) |
H527Q |
probably benign |
Het |
| Smap2 |
GACTCTAC |
GAC |
4: 120,830,282 (GRCm39) |
|
probably benign |
Het |
| Stxbp1 |
T |
C |
2: 32,691,895 (GRCm39) |
I432M |
possibly damaging |
Het |
| Sulf2 |
A |
G |
2: 165,925,841 (GRCm39) |
Y439H |
probably benign |
Het |
| Tlr3 |
T |
C |
8: 45,850,486 (GRCm39) |
I280V |
possibly damaging |
Het |
| Ush2a |
A |
G |
1: 188,643,444 (GRCm39) |
S4269G |
probably benign |
Het |
| Vmn1r214 |
A |
T |
13: 23,219,610 (GRCm39) |
*368L |
probably null |
Het |
| Wif1 |
C |
G |
10: 120,870,996 (GRCm39) |
Q92E |
probably damaging |
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 |
|
|
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 |
|
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'- CAGCTCAGCTTGCATCCTAAAG -3'
(R):5'- GGTGAGCACGTTCTGTAAATCC -3'
Sequencing Primer
(F):5'- GCTTGCATCCTAAAGCAGTC -3'
(R):5'- CACGTTCTGTAAATCCTGGTAAGGC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation