Incidental Mutation 'R5106:Thoc5'
ID |
392641 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Thoc5
|
Ensembl Gene |
ENSMUSG00000034274 |
Gene Name |
THO complex 5 |
Synonyms |
Fmip, PK1.3, 1700060C24Rik, A430085L24Rik |
MMRRC Submission |
042694-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5106 (G1)
|
Quality Score |
101 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
4845339-4878867 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 4860630 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 103
(S103P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000118940
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038237]
[ENSMUST00000101615]
[ENSMUST00000142543]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000038237
AA Change: S240P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000045580 Gene: ENSMUSG00000034274 AA Change: S240P
Domain | Start | End | E-Value | Type |
Pfam:FimP
|
97 |
452 |
1.1e-133 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000101615
AA Change: S192P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000099137 Gene: ENSMUSG00000034274 AA Change: S192P
Domain | Start | End | E-Value | Type |
low complexity region
|
34 |
41 |
N/A |
INTRINSIC |
Pfam:FimP
|
48 |
405 |
7.5e-142 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000142543
AA Change: S103P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000118940 Gene: ENSMUSG00000034274 AA Change: S103P
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
|
Meta Mutation Damage Score |
0.8455 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.0%
|
Validation Efficiency |
100% (62/62) |
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
C1qtnf2 |
G |
A |
11: 43,376,880 (GRCm39) |
R84Q |
possibly damaging |
Het |
Carmil2 |
T |
A |
8: 106,420,638 (GRCm39) |
|
probably null |
Het |
Cenpf |
A |
T |
1: 189,416,005 (GRCm39) |
C107S |
probably benign |
Het |
Cideb |
T |
C |
14: 55,991,982 (GRCm39) |
M191V |
probably benign |
Het |
Cope |
C |
A |
8: 70,763,097 (GRCm39) |
R213S |
possibly damaging |
Het |
Ctcf |
T |
C |
8: 106,408,130 (GRCm39) |
|
probably benign |
Het |
Daam2 |
T |
C |
17: 49,783,489 (GRCm39) |
Y647C |
probably damaging |
Het |
Dlg2 |
T |
C |
7: 92,091,894 (GRCm39) |
Y920H |
probably damaging |
Het |
Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
Fdps |
C |
A |
3: 89,006,710 (GRCm39) |
R127L |
probably damaging |
Het |
G6pd2 |
C |
T |
5: 61,967,695 (GRCm39) |
T490I |
probably benign |
Het |
Gm6401 |
A |
G |
14: 41,787,463 (GRCm39) |
M121T |
probably damaging |
Het |
Gnl2 |
T |
C |
4: 124,947,329 (GRCm39) |
|
probably null |
Het |
Gprc5c |
G |
T |
11: 114,755,093 (GRCm39) |
V257L |
possibly damaging |
Het |
Gtf2a1l |
A |
G |
17: 89,002,073 (GRCm39) |
S310G |
possibly damaging |
Het |
Igdcc4 |
T |
C |
9: 65,031,983 (GRCm39) |
F500L |
probably damaging |
Het |
Lgr4 |
A |
T |
2: 109,827,940 (GRCm39) |
H207L |
probably damaging |
Het |
Llcfc1 |
A |
G |
6: 41,662,310 (GRCm39) |
M105V |
probably benign |
Het |
Macroh2a1 |
A |
G |
13: 56,236,106 (GRCm39) |
V213A |
possibly damaging |
Het |
Map2k3 |
A |
G |
11: 60,832,708 (GRCm39) |
K18E |
probably damaging |
Het |
Mccc1 |
T |
A |
3: 36,026,713 (GRCm39) |
D528V |
probably benign |
Het |
Nedd4l |
C |
T |
18: 65,326,376 (GRCm39) |
T568M |
probably damaging |
Het |
Nr3c1 |
A |
C |
18: 39,619,654 (GRCm39) |
I211S |
possibly damaging |
Het |
Nudt5 |
C |
T |
2: 5,859,640 (GRCm39) |
|
probably benign |
Het |
Or2ag20 |
T |
A |
7: 106,464,595 (GRCm39) |
M136K |
probably damaging |
Het |
Or5d46 |
T |
C |
2: 88,170,454 (GRCm39) |
Y182H |
probably benign |
Het |
Or6c202 |
T |
C |
10: 128,996,106 (GRCm39) |
Y249C |
probably damaging |
Het |
Or9k2b |
A |
T |
10: 130,016,177 (GRCm39) |
S191T |
probably benign |
Het |
Pcid2 |
A |
T |
8: 13,129,648 (GRCm39) |
F326I |
probably damaging |
Het |
Pcnt |
A |
T |
10: 76,237,278 (GRCm39) |
I1336N |
probably damaging |
Het |
Pomk |
T |
C |
8: 26,476,404 (GRCm39) |
D50G |
probably benign |
Het |
Ppp2r2a |
T |
C |
14: 67,260,546 (GRCm39) |
Y244C |
probably damaging |
Het |
Ptprz1 |
A |
G |
6: 23,000,027 (GRCm39) |
T706A |
probably benign |
Het |
Rad54l |
G |
A |
4: 115,956,961 (GRCm39) |
|
probably benign |
Het |
Raph1 |
T |
C |
1: 60,572,459 (GRCm39) |
D36G |
probably damaging |
Het |
Rgs7 |
A |
G |
1: 174,904,416 (GRCm39) |
S166P |
possibly damaging |
Het |
Rnf183 |
C |
G |
4: 62,346,465 (GRCm39) |
R111P |
probably damaging |
Het |
Rp1l1 |
A |
T |
14: 64,265,395 (GRCm39) |
D327V |
probably damaging |
Het |
Rpl3l |
A |
G |
17: 24,951,411 (GRCm39) |
Y156C |
probably damaging |
Het |
Slc25a54 |
G |
T |
3: 109,020,180 (GRCm39) |
C398F |
probably benign |
Het |
Slc39a2 |
A |
G |
14: 52,132,988 (GRCm39) |
*310W |
probably null |
Het |
Slit3 |
T |
C |
11: 35,503,194 (GRCm39) |
C464R |
probably damaging |
Het |
Smu1 |
A |
T |
4: 40,743,104 (GRCm39) |
F345I |
possibly damaging |
Het |
Ssc5d |
T |
A |
7: 4,939,664 (GRCm39) |
V700E |
probably benign |
Het |
Stxbp3 |
T |
C |
3: 108,702,243 (GRCm39) |
Y521C |
probably benign |
Het |
Tenm4 |
T |
C |
7: 96,492,356 (GRCm39) |
S1061P |
probably damaging |
Het |
Tmem221 |
A |
G |
8: 72,008,522 (GRCm39) |
F173L |
probably benign |
Het |
Trit1 |
T |
C |
4: 122,948,106 (GRCm39) |
|
probably benign |
Het |
Ttc23l |
G |
T |
15: 10,551,636 (GRCm39) |
T30K |
possibly damaging |
Het |
Vmn2r106 |
T |
C |
17: 20,499,395 (GRCm39) |
|
probably null |
Het |
Vmn2r38 |
C |
A |
7: 9,078,169 (GRCm39) |
V738L |
possibly damaging |
Het |
Zfp160 |
T |
A |
17: 21,247,023 (GRCm39) |
H524Q |
probably damaging |
Het |
Zfp791 |
T |
A |
8: 85,837,259 (GRCm39) |
K202* |
probably null |
Het |
Zfp985 |
T |
A |
4: 147,668,612 (GRCm39) |
S493R |
probably damaging |
Het |
Zkscan7 |
T |
C |
9: 122,725,198 (GRCm39) |
|
probably benign |
Het |
Zwilch |
A |
C |
9: 64,060,866 (GRCm39) |
F329V |
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 |
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'- ACTGAGCTTTTGTCTTGCCATAG -3'
(R):5'- CACATTGCTCAAGCCTCAGG -3'
Sequencing Primer
(F):5'- GAGCTTTTGTCTTGCCATAGTTCTAC -3'
(R):5'- AAAGCTGGGGTGCTCTCCTG -3'
|
Posted On |
2016-06-15 |