Incidental Mutation 'R5732:Tex10'
ID |
451476 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tex10
|
Ensembl Gene |
ENSMUSG00000028345 |
Gene Name |
testis expressed gene 10 |
Synonyms |
clone 18330, 2810462N03Rik, 2610206N19Rik |
MMRRC Submission |
043347-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.952)
|
Stock # |
R5732 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
48430858-48473459 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 48460046 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Lysine
at position 435
(T435K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000132498
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030030]
[ENSMUST00000155905]
[ENSMUST00000164866]
|
AlphaFold |
Q3URQ0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000030030
AA Change: T435K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000030030 Gene: ENSMUSG00000028345 AA Change: T435K
Domain | Start | End | E-Value | Type |
low complexity region
|
13 |
25 |
N/A |
INTRINSIC |
Pfam:Ipi1_N
|
130 |
235 |
9.7e-24 |
PFAM |
low complexity region
|
832 |
846 |
N/A |
INTRINSIC |
low complexity region
|
856 |
873 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138531
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000155905
|
SMART Domains |
Protein: ENSMUSP00000114669 Gene: ENSMUSG00000028345
Domain | Start | End | E-Value | Type |
Pfam:Ipi1_N
|
47 |
152 |
3.4e-24 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000164866
AA Change: T435K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000132498 Gene: ENSMUSG00000028345 AA Change: T435K
Domain | Start | End | E-Value | Type |
low complexity region
|
13 |
25 |
N/A |
INTRINSIC |
Pfam:Ipi1_N
|
132 |
235 |
4.1e-25 |
PFAM |
low complexity region
|
832 |
846 |
N/A |
INTRINSIC |
low complexity region
|
856 |
873 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.3%
- 10x: 96.8%
- 20x: 94.5%
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality prior to E7.5 with impaired inner cell mass proliferation in culture. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acaa1b |
T |
A |
9: 118,977,462 (GRCm39) |
M407L |
possibly damaging |
Het |
Acsf2 |
T |
C |
11: 94,460,768 (GRCm39) |
|
probably benign |
Het |
Apob |
A |
G |
12: 8,060,353 (GRCm39) |
D2945G |
probably benign |
Het |
Atg2a |
T |
C |
19: 6,307,490 (GRCm39) |
Y1475H |
probably damaging |
Het |
Capn5 |
A |
G |
7: 97,778,593 (GRCm39) |
L342P |
possibly damaging |
Het |
Ccdc152 |
A |
G |
15: 3,321,860 (GRCm39) |
|
probably null |
Het |
Ccdc7b |
A |
G |
8: 129,799,195 (GRCm39) |
M91V |
possibly damaging |
Het |
Cd3g |
T |
C |
9: 44,884,929 (GRCm39) |
E105G |
possibly damaging |
Het |
Cdadc1 |
A |
G |
14: 59,834,360 (GRCm39) |
L44P |
probably damaging |
Het |
Cdh23 |
A |
G |
10: 60,167,096 (GRCm39) |
V1852A |
possibly damaging |
Het |
Cdx2 |
T |
C |
5: 147,238,833 (GRCm39) |
Q252R |
possibly damaging |
Het |
Cps1 |
A |
T |
1: 67,196,923 (GRCm39) |
I325F |
probably benign |
Het |
Dctn1 |
G |
A |
6: 83,174,931 (GRCm39) |
|
probably null |
Het |
Dcun1d3 |
T |
C |
7: 119,457,256 (GRCm39) |
K152R |
probably benign |
Het |
Dhx35 |
G |
A |
2: 158,673,705 (GRCm39) |
V379M |
probably damaging |
Het |
Fam171a2 |
T |
C |
11: 102,330,807 (GRCm39) |
E224G |
possibly damaging |
Het |
Flt1 |
G |
T |
5: 147,571,293 (GRCm39) |
Y671* |
probably null |
Het |
Fndc3b |
T |
C |
3: 27,515,922 (GRCm39) |
Y628C |
probably damaging |
Het |
Foxj3 |
A |
T |
4: 119,443,008 (GRCm39) |
D144V |
probably damaging |
Het |
Gp2 |
A |
G |
7: 119,048,331 (GRCm39) |
V429A |
probably damaging |
Het |
Hydin |
T |
A |
8: 111,178,690 (GRCm39) |
I1095N |
probably benign |
Het |
Kat2a |
A |
G |
11: 100,599,066 (GRCm39) |
F571S |
probably damaging |
Het |
Kcnq1 |
C |
A |
7: 142,702,493 (GRCm39) |
|
probably benign |
Het |
Letm2 |
A |
C |
8: 26,077,341 (GRCm39) |
S250A |
possibly damaging |
Het |
Llgl1 |
T |
C |
11: 60,600,286 (GRCm39) |
V545A |
probably benign |
Het |
Lrfn3 |
T |
C |
7: 30,059,031 (GRCm39) |
D398G |
probably benign |
Het |
Lrig1 |
G |
T |
6: 94,676,520 (GRCm39) |
C49* |
probably null |
Het |
Mug1 |
A |
G |
6: 121,855,452 (GRCm39) |
I929V |
probably benign |
Het |
Naaa |
G |
A |
5: 92,411,314 (GRCm39) |
T291I |
probably damaging |
Het |
Ndufaf1 |
G |
A |
2: 119,490,521 (GRCm39) |
Q180* |
probably null |
Het |
Nr3c1 |
A |
T |
18: 39,548,752 (GRCm39) |
H741Q |
probably damaging |
Het |
Nsun5 |
T |
C |
5: 135,400,204 (GRCm39) |
L109P |
probably damaging |
Het |
Pacsin3 |
A |
G |
2: 91,090,605 (GRCm39) |
E18G |
probably damaging |
Het |
Rpgr |
G |
A |
X: 10,032,511 (GRCm39) |
P857L |
probably benign |
Het |
Siglec1 |
G |
A |
2: 130,916,188 (GRCm39) |
T1254M |
probably benign |
Het |
Slc35a4 |
A |
T |
18: 36,815,394 (GRCm39) |
T75S |
probably benign |
Het |
Slc52a2 |
T |
C |
15: 76,425,274 (GRCm39) |
I434T |
probably benign |
Het |
Slco2a1 |
C |
T |
9: 102,927,455 (GRCm39) |
T116I |
probably damaging |
Het |
Snrpd2 |
T |
C |
7: 18,886,538 (GRCm39) |
|
probably null |
Het |
Tbc1d32 |
T |
A |
10: 55,964,489 (GRCm39) |
L903F |
probably damaging |
Het |
Tmem266 |
T |
C |
9: 55,288,120 (GRCm39) |
S66P |
probably damaging |
Het |
Top2b |
A |
T |
14: 16,400,106 (GRCm38) |
E581D |
possibly damaging |
Het |
Uggt1 |
A |
T |
1: 36,200,852 (GRCm39) |
|
probably null |
Het |
Wdr47 |
T |
A |
3: 108,540,472 (GRCm39) |
Y622* |
probably null |
Het |
Zfp644 |
A |
T |
5: 106,784,989 (GRCm39) |
H519Q |
probably damaging |
Het |
Zfp687 |
T |
C |
3: 94,918,528 (GRCm39) |
M415V |
possibly damaging |
Het |
|
Other mutations in Tex10 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00574:Tex10
|
APN |
4 |
48,469,937 (GRCm39) |
nonsense |
probably null |
|
IGL00832:Tex10
|
APN |
4 |
48,468,864 (GRCm39) |
missense |
probably benign |
|
IGL01376:Tex10
|
APN |
4 |
48,456,740 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL01594:Tex10
|
APN |
4 |
48,469,906 (GRCm39) |
missense |
possibly damaging |
0.47 |
IGL02754:Tex10
|
APN |
4 |
48,435,028 (GRCm39) |
missense |
possibly damaging |
0.46 |
IGL03071:Tex10
|
APN |
4 |
48,452,946 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03399:Tex10
|
APN |
4 |
48,459,915 (GRCm39) |
missense |
probably benign |
0.04 |
R0105:Tex10
|
UTSW |
4 |
48,468,957 (GRCm39) |
missense |
probably damaging |
0.99 |
R0105:Tex10
|
UTSW |
4 |
48,468,957 (GRCm39) |
missense |
probably damaging |
0.99 |
R0544:Tex10
|
UTSW |
4 |
48,462,766 (GRCm39) |
splice site |
probably null |
|
R0583:Tex10
|
UTSW |
4 |
48,451,952 (GRCm39) |
missense |
probably damaging |
1.00 |
R0591:Tex10
|
UTSW |
4 |
48,456,800 (GRCm39) |
missense |
probably benign |
0.04 |
R0592:Tex10
|
UTSW |
4 |
48,456,800 (GRCm39) |
missense |
probably benign |
0.04 |
R0593:Tex10
|
UTSW |
4 |
48,456,800 (GRCm39) |
missense |
probably benign |
0.04 |
R0893:Tex10
|
UTSW |
4 |
48,456,800 (GRCm39) |
missense |
probably benign |
0.04 |
R1485:Tex10
|
UTSW |
4 |
48,436,492 (GRCm39) |
missense |
possibly damaging |
0.54 |
R1703:Tex10
|
UTSW |
4 |
48,456,800 (GRCm39) |
missense |
probably benign |
0.04 |
R1704:Tex10
|
UTSW |
4 |
48,456,800 (GRCm39) |
missense |
probably benign |
0.04 |
R1706:Tex10
|
UTSW |
4 |
48,456,800 (GRCm39) |
missense |
probably benign |
0.04 |
R1911:Tex10
|
UTSW |
4 |
48,456,800 (GRCm39) |
missense |
probably benign |
0.04 |
R1912:Tex10
|
UTSW |
4 |
48,456,800 (GRCm39) |
missense |
probably benign |
0.04 |
R1930:Tex10
|
UTSW |
4 |
48,456,800 (GRCm39) |
missense |
probably benign |
0.04 |
R1983:Tex10
|
UTSW |
4 |
48,460,059 (GRCm39) |
missense |
possibly damaging |
0.93 |
R2001:Tex10
|
UTSW |
4 |
48,451,940 (GRCm39) |
missense |
probably damaging |
1.00 |
R2074:Tex10
|
UTSW |
4 |
48,456,800 (GRCm39) |
missense |
probably benign |
0.04 |
R2075:Tex10
|
UTSW |
4 |
48,456,800 (GRCm39) |
missense |
probably benign |
0.04 |
R2157:Tex10
|
UTSW |
4 |
48,436,522 (GRCm39) |
splice site |
probably benign |
|
R3000:Tex10
|
UTSW |
4 |
48,459,393 (GRCm39) |
splice site |
probably null |
|
R4067:Tex10
|
UTSW |
4 |
48,459,355 (GRCm39) |
nonsense |
probably null |
|
R4081:Tex10
|
UTSW |
4 |
48,468,873 (GRCm39) |
missense |
probably benign |
0.11 |
R4133:Tex10
|
UTSW |
4 |
48,468,968 (GRCm39) |
missense |
probably damaging |
1.00 |
R4352:Tex10
|
UTSW |
4 |
48,452,039 (GRCm39) |
missense |
possibly damaging |
0.77 |
R4364:Tex10
|
UTSW |
4 |
48,468,774 (GRCm39) |
missense |
probably benign |
0.13 |
R4601:Tex10
|
UTSW |
4 |
48,452,946 (GRCm39) |
missense |
probably benign |
0.00 |
R4602:Tex10
|
UTSW |
4 |
48,452,946 (GRCm39) |
missense |
probably benign |
0.00 |
R4610:Tex10
|
UTSW |
4 |
48,452,946 (GRCm39) |
missense |
probably benign |
0.00 |
R4707:Tex10
|
UTSW |
4 |
48,468,984 (GRCm39) |
missense |
probably benign |
0.00 |
R4744:Tex10
|
UTSW |
4 |
48,469,990 (GRCm39) |
missense |
probably benign |
0.00 |
R4778:Tex10
|
UTSW |
4 |
48,436,468 (GRCm39) |
missense |
probably damaging |
1.00 |
R4989:Tex10
|
UTSW |
4 |
48,458,525 (GRCm39) |
splice site |
probably benign |
|
R5051:Tex10
|
UTSW |
4 |
48,460,019 (GRCm39) |
missense |
possibly damaging |
0.86 |
R5120:Tex10
|
UTSW |
4 |
48,459,272 (GRCm39) |
missense |
possibly damaging |
0.68 |
R5799:Tex10
|
UTSW |
4 |
48,433,295 (GRCm39) |
missense |
possibly damaging |
0.62 |
R5813:Tex10
|
UTSW |
4 |
48,452,928 (GRCm39) |
missense |
probably benign |
0.00 |
R6091:Tex10
|
UTSW |
4 |
48,459,891 (GRCm39) |
missense |
probably damaging |
0.98 |
R6223:Tex10
|
UTSW |
4 |
48,468,525 (GRCm39) |
missense |
probably damaging |
0.98 |
R6493:Tex10
|
UTSW |
4 |
48,436,450 (GRCm39) |
missense |
probably damaging |
1.00 |
R7567:Tex10
|
UTSW |
4 |
48,468,787 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7590:Tex10
|
UTSW |
4 |
48,467,725 (GRCm39) |
missense |
probably damaging |
0.99 |
R7808:Tex10
|
UTSW |
4 |
48,459,984 (GRCm39) |
missense |
probably benign |
|
R8004:Tex10
|
UTSW |
4 |
48,452,047 (GRCm39) |
missense |
possibly damaging |
0.64 |
R8084:Tex10
|
UTSW |
4 |
48,431,066 (GRCm39) |
missense |
probably benign |
0.05 |
R9030:Tex10
|
UTSW |
4 |
48,452,056 (GRCm39) |
missense |
probably damaging |
1.00 |
X0017:Tex10
|
UTSW |
4 |
48,460,080 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TGCCAGACCCAGATCTTCTC -3'
(R):5'- TGCCTAGTACTCTGTCAGCTTGG -3'
Sequencing Primer
(F):5'- GCACCACCTACCTCTGTTTGG -3'
(R):5'- AGTGCTCAAAAGCAGGTG -3'
|
Posted On |
2017-01-03 |