Incidental Mutation 'R6833:Thoc5'
| ID |
534451 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Thoc5
|
| Ensembl Gene |
ENSMUSG00000034274 |
| Gene Name |
THO complex 5 |
| Synonyms |
Fmip, PK1.3, 1700060C24Rik, A430085L24Rik |
| MMRRC Submission |
044942-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6833 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
4845339-4878867 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 4869804 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 402
(L402P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099137
(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: L450P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000045580
Gene: ENSMUSG00000034274
AA Change: L450P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FimP
|
97 |
452 |
1.1e-133 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000101615
AA Change: L402P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099137
Gene: ENSMUSG00000034274
AA Change: L402P
| 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 benign
Transcript: ENSMUST00000142543
|
| SMART Domains |
Protein: ENSMUSP00000118940
Gene: ENSMUSG00000034274
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FimP
|
1 |
301 |
1.3e-97 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
| Validation Efficiency |
96% (54/56) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A830018L16Rik |
T |
A |
1: 11,658,733 (GRCm39) |
W215R |
probably damaging |
Het |
| Aco1 |
A |
G |
4: 40,164,747 (GRCm39) |
K79R |
probably benign |
Het |
| Adam28 |
C |
T |
14: 68,855,576 (GRCm39) |
A630T |
probably benign |
Het |
| Alpk2 |
T |
C |
18: 65,439,480 (GRCm39) |
K1105E |
probably benign |
Het |
| Angptl1 |
A |
T |
1: 156,672,263 (GRCm39) |
I30L |
probably benign |
Het |
| Astn1 |
A |
T |
1: 158,491,692 (GRCm39) |
Q47L |
probably benign |
Het |
| Atf6b |
T |
C |
17: 34,868,131 (GRCm39) |
S135P |
probably damaging |
Het |
| Ccdc122 |
G |
T |
14: 77,326,371 (GRCm39) |
|
probably benign |
Het |
| Cers3 |
T |
C |
7: 66,429,419 (GRCm39) |
|
probably null |
Het |
| Dcaf10 |
T |
C |
4: 45,373,043 (GRCm39) |
C95R |
probably damaging |
Het |
| Dcxr |
A |
G |
11: 120,616,917 (GRCm39) |
Y149H |
probably damaging |
Het |
| Dmxl1 |
A |
T |
18: 50,088,890 (GRCm39) |
I2790F |
probably damaging |
Het |
| Dnhd1 |
T |
A |
7: 105,352,580 (GRCm39) |
C2578S |
probably benign |
Het |
| Dnttip2 |
T |
C |
3: 122,070,452 (GRCm39) |
S556P |
probably damaging |
Het |
| Efr3a |
T |
G |
15: 65,714,535 (GRCm39) |
V301G |
probably damaging |
Het |
| Eml5 |
A |
T |
12: 98,853,283 (GRCm39) |
H105Q |
probably damaging |
Het |
| Enpp3 |
T |
A |
10: 24,685,768 (GRCm39) |
H44L |
probably damaging |
Het |
| Fam120a |
A |
G |
13: 49,087,517 (GRCm39) |
V281A |
probably damaging |
Het |
| Fat3 |
C |
T |
9: 15,826,357 (GRCm39) |
E4532K |
possibly damaging |
Het |
| Ferd3l |
G |
A |
12: 33,978,537 (GRCm39) |
V17I |
probably damaging |
Het |
| Glb1l |
A |
G |
1: 75,178,397 (GRCm39) |
V347A |
possibly damaging |
Het |
| Gm4846 |
A |
T |
1: 166,322,147 (GRCm39) |
I140N |
possibly damaging |
Het |
| Gm9195 |
T |
C |
14: 72,671,856 (GRCm39) |
T2586A |
possibly damaging |
Het |
| Hsd17b8 |
T |
C |
17: 34,246,191 (GRCm39) |
S161G |
probably damaging |
Het |
| Hsp90ab1 |
T |
C |
17: 45,881,393 (GRCm39) |
I250V |
probably benign |
Het |
| Il11ra1 |
A |
G |
4: 41,765,454 (GRCm39) |
H183R |
probably benign |
Het |
| Lama3 |
G |
A |
18: 12,624,605 (GRCm39) |
C1450Y |
probably damaging |
Het |
| Lgals7 |
G |
A |
7: 28,565,087 (GRCm39) |
R75Q |
probably damaging |
Het |
| Lpcat3 |
A |
G |
6: 124,676,974 (GRCm39) |
Y124C |
probably damaging |
Het |
| Lrrc8a |
T |
A |
2: 30,145,659 (GRCm39) |
S158T |
possibly damaging |
Het |
| Mcm3 |
A |
T |
1: 20,880,320 (GRCm39) |
M504K |
possibly damaging |
Het |
| Mro |
G |
T |
18: 73,997,003 (GRCm39) |
|
probably benign |
Het |
| Mybpc3 |
A |
G |
2: 90,955,773 (GRCm39) |
|
probably null |
Het |
| Myh14 |
T |
A |
7: 44,273,803 (GRCm39) |
K1356* |
probably null |
Het |
| Myo5b |
A |
C |
18: 74,903,396 (GRCm39) |
Q1804P |
probably benign |
Het |
| Nol10 |
A |
G |
12: 17,402,728 (GRCm39) |
I67V |
probably benign |
Het |
| Pam |
T |
A |
1: 97,765,717 (GRCm39) |
I771F |
probably damaging |
Het |
| Pcdhgb8 |
G |
T |
18: 37,895,142 (GRCm39) |
A71S |
probably benign |
Het |
| Pmfbp1 |
T |
C |
8: 110,265,307 (GRCm39) |
|
probably null |
Het |
| Poc1b |
C |
T |
10: 99,028,666 (GRCm39) |
A336V |
probably benign |
Het |
| Poglut3 |
A |
G |
9: 53,303,308 (GRCm39) |
I67V |
possibly damaging |
Het |
| Prap1 |
C |
A |
7: 139,674,995 (GRCm39) |
A20E |
possibly damaging |
Het |
| Prox1 |
G |
A |
1: 189,892,975 (GRCm39) |
A490V |
probably damaging |
Het |
| Prss39 |
G |
T |
1: 34,537,697 (GRCm39) |
V54F |
possibly damaging |
Het |
| Sema3b |
T |
A |
9: 107,480,515 (GRCm39) |
E144V |
probably benign |
Het |
| Sft2d1 |
C |
T |
17: 8,537,707 (GRCm39) |
T32I |
possibly damaging |
Het |
| Smpd2 |
C |
T |
10: 41,364,442 (GRCm39) |
A160T |
probably damaging |
Het |
| Stard9 |
G |
T |
2: 120,531,740 (GRCm39) |
V2666F |
probably damaging |
Het |
| Syt7 |
T |
A |
19: 10,421,508 (GRCm39) |
M400K |
probably damaging |
Het |
| Tinf2 |
A |
T |
14: 55,919,037 (GRCm39) |
M1K |
probably null |
Het |
| Ttc21a |
A |
G |
9: 119,771,701 (GRCm39) |
I167V |
probably benign |
Het |
| Vldlr |
T |
C |
19: 27,217,974 (GRCm39) |
L474P |
probably damaging |
Het |
| Xirp2 |
T |
C |
2: 67,340,294 (GRCm39) |
V845A |
probably benign |
Het |
| Zdhhc7 |
A |
T |
8: 120,811,663 (GRCm39) |
M180K |
probably damaging |
Het |
| Zfp735 |
G |
A |
11: 73,601,434 (GRCm39) |
G126D |
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 |
|
R6504:Thoc5
|
UTSW |
11 |
4,874,815 (GRCm39) |
nonsense |
probably null |
|
|
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'- GCATTCAGGATGAGCATCAGTC -3'
(R):5'- GGGAAGGCCAAGTCATCTCAAC -3'
Sequencing Primer
(F):5'- ATCAGTCTTGATGTGAGGACAC -3'
(R):5'- TCTCAACACTTGAAGACTAGGTAGG -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation