Incidental Mutation 'R5051:Tex10'
ID |
394639 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tex10
|
Ensembl Gene |
ENSMUSG00000028345 |
Gene Name |
testis expressed gene 10 |
Synonyms |
clone 18330, 2810462N03Rik, 2610206N19Rik |
MMRRC Submission |
042641-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.952)
|
Stock # |
R5051 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
48430858-48473459 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 48460019 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Valine
at position 444
(A444V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000132498
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030030]
[ENSMUST00000155905]
[ENSMUST00000164866]
|
AlphaFold |
Q3URQ0 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000030030
AA Change: A444V
PolyPhen 2
Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000030030 Gene: ENSMUSG00000028345 AA Change: A444V
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 |
possibly damaging
Transcript: ENSMUST00000164866
AA Change: A444V
PolyPhen 2
Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000132498 Gene: ENSMUSG00000028345 AA Change: A444V
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 |
|
Meta Mutation Damage Score |
0.1365 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.3%
- 10x: 95.9%
- 20x: 90.6%
|
Validation Efficiency |
98% (62/63) |
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
5730522E02Rik |
G |
A |
11: 25,718,990 (GRCm39) |
T51I |
unknown |
Het |
Alms1 |
C |
T |
6: 85,604,916 (GRCm39) |
Q2189* |
probably null |
Het |
Ank1 |
A |
T |
8: 23,609,397 (GRCm39) |
D1363V |
probably damaging |
Het |
Ap3d1 |
T |
G |
10: 80,555,033 (GRCm39) |
T431P |
probably damaging |
Het |
Arnt |
A |
G |
3: 95,377,648 (GRCm39) |
T125A |
probably benign |
Het |
Atp10a |
TGTCCGTC |
TGTC |
7: 58,389,994 (GRCm39) |
|
probably null |
Het |
Bscl2 |
A |
T |
19: 8,822,643 (GRCm39) |
R195* |
probably null |
Het |
Ccdc146 |
C |
T |
5: 21,508,081 (GRCm39) |
V656I |
possibly damaging |
Het |
Ccn6 |
A |
G |
10: 39,031,152 (GRCm39) |
F124L |
probably benign |
Het |
Ccr4 |
T |
C |
9: 114,321,714 (GRCm39) |
Y117C |
probably damaging |
Het |
Cd55 |
T |
A |
1: 130,376,085 (GRCm39) |
D355V |
probably damaging |
Het |
Cntn6 |
T |
A |
6: 104,749,558 (GRCm39) |
I259N |
probably damaging |
Het |
Cspg4 |
A |
G |
9: 56,793,020 (GRCm39) |
I252V |
possibly damaging |
Het |
Dmbt1 |
T |
C |
7: 130,696,472 (GRCm39) |
V895A |
probably benign |
Het |
Ect2 |
A |
G |
3: 27,156,635 (GRCm39) |
V775A |
probably benign |
Het |
Gm14486 |
T |
C |
2: 30,548,889 (GRCm39) |
|
noncoding transcript |
Het |
Grin2b |
T |
C |
6: 135,756,393 (GRCm39) |
N444S |
possibly damaging |
Het |
Heatr5b |
T |
C |
17: 79,102,703 (GRCm39) |
D1225G |
probably damaging |
Het |
Il1rl2 |
G |
A |
1: 40,382,254 (GRCm39) |
V189I |
probably benign |
Het |
Kif1a |
G |
A |
1: 93,003,876 (GRCm39) |
|
probably null |
Het |
Ltbr |
T |
A |
6: 125,289,733 (GRCm39) |
T154S |
probably damaging |
Het |
Mrgpra6 |
C |
T |
7: 46,835,690 (GRCm39) |
V244I |
probably benign |
Het |
Myo15a |
G |
A |
11: 60,378,251 (GRCm39) |
|
probably null |
Het |
Ndufs1 |
A |
G |
1: 63,204,106 (GRCm39) |
|
probably null |
Het |
Nectin3 |
A |
T |
16: 46,268,913 (GRCm39) |
N496K |
possibly damaging |
Het |
Nkd2 |
A |
G |
13: 73,973,195 (GRCm39) |
V147A |
probably benign |
Het |
Nlrp3 |
G |
C |
11: 59,457,025 (GRCm39) |
R1013P |
probably benign |
Het |
Or4d11 |
C |
A |
19: 12,013,288 (GRCm39) |
V273F |
possibly damaging |
Het |
Or4k36 |
T |
A |
2: 111,146,599 (GRCm39) |
Y258* |
probably null |
Het |
Pdk2 |
T |
C |
11: 94,919,598 (GRCm39) |
S263G |
probably benign |
Het |
Pla2g4e |
T |
A |
2: 120,004,785 (GRCm39) |
I520F |
probably damaging |
Het |
Plat |
A |
G |
8: 23,263,688 (GRCm39) |
T196A |
probably benign |
Het |
Podn |
T |
A |
4: 107,872,043 (GRCm39) |
D400V |
probably benign |
Het |
Poteg |
T |
C |
8: 27,943,357 (GRCm39) |
V147A |
possibly damaging |
Het |
Prkar2a |
A |
G |
9: 108,622,690 (GRCm39) |
N315D |
probably benign |
Het |
Rac2 |
A |
G |
15: 78,449,134 (GRCm39) |
I13T |
possibly damaging |
Het |
Rangap1 |
A |
C |
15: 81,594,664 (GRCm39) |
D388E |
probably benign |
Het |
Relch |
T |
A |
1: 105,619,711 (GRCm39) |
N313K |
possibly damaging |
Het |
Sp140 |
T |
A |
1: 85,538,549 (GRCm39) |
D95E |
possibly damaging |
Het |
Supv3l1 |
A |
C |
10: 62,279,196 (GRCm39) |
I240S |
probably damaging |
Het |
Sympk |
C |
T |
7: 18,769,967 (GRCm39) |
R215C |
probably benign |
Het |
Tead4 |
A |
C |
6: 128,271,262 (GRCm39) |
|
probably benign |
Het |
Tgds |
A |
T |
14: 118,365,639 (GRCm39) |
I73K |
probably damaging |
Het |
Tmem117 |
C |
A |
15: 94,612,794 (GRCm39) |
T110K |
probably damaging |
Het |
Trim30a |
T |
A |
7: 104,060,913 (GRCm39) |
|
probably benign |
Het |
Unc80 |
C |
T |
1: 66,548,636 (GRCm39) |
T636I |
probably damaging |
Het |
Ybey |
G |
A |
10: 76,304,173 (GRCm39) |
R10W |
probably damaging |
Het |
Zap70 |
A |
G |
1: 36,820,532 (GRCm39) |
I576V |
probably benign |
Het |
Zfp64 |
T |
C |
2: 168,768,304 (GRCm39) |
D436G |
probably 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 |
|
R5120:Tex10
|
UTSW |
4 |
48,459,272 (GRCm39) |
missense |
possibly damaging |
0.68 |
R5732:Tex10
|
UTSW |
4 |
48,460,046 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- AGACCCAGATCTTCTCTCCTG -3'
(R):5'- AGTGCTCAAAAGCAGGTG -3'
|
Posted On |
2016-06-15 |