Incidental Mutation 'R0591:Tex10'
ID |
55968 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tex10
|
Ensembl Gene |
ENSMUSG00000028345 |
Gene Name |
testis expressed gene 10 |
Synonyms |
clone 18330, 2810462N03Rik, 2610206N19Rik |
MMRRC Submission |
038781-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.952)
|
Stock # |
R0591 (G1)
|
Quality Score |
211 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
48430858-48473459 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 48456800 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glutamine
at position 637
(R637Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000132498
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030030]
[ENSMUST00000155905]
[ENSMUST00000164866]
|
AlphaFold |
Q3URQ0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000030030
AA Change: R637Q
PolyPhen 2
Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000030030 Gene: ENSMUSG00000028345 AA Change: R637Q
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 benign
Transcript: ENSMUST00000164866
AA Change: R637Q
PolyPhen 2
Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000132498 Gene: ENSMUSG00000028345 AA Change: R637Q
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 |
0.0898 |
Coding Region Coverage |
- 1x: 99.7%
- 3x: 99.2%
- 10x: 97.7%
- 20x: 95.3%
|
Validation Efficiency |
100% (62/62) |
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
G |
T |
3: 137,774,704 (GRCm39) |
E1298* |
probably null |
Het |
Aadacl2fm2 |
C |
A |
3: 59,659,550 (GRCm39) |
Y334* |
probably null |
Het |
Adam19 |
T |
C |
11: 46,012,238 (GRCm39) |
|
probably benign |
Het |
Agt |
A |
T |
8: 125,283,678 (GRCm39) |
S480R |
possibly damaging |
Het |
Anapc1 |
G |
T |
2: 128,461,252 (GRCm39) |
D1769E |
probably benign |
Het |
Aox4 |
T |
C |
1: 58,278,261 (GRCm39) |
|
probably benign |
Het |
Apol9b |
G |
A |
15: 77,619,830 (GRCm39) |
V209I |
possibly damaging |
Het |
Appl2 |
A |
T |
10: 83,460,509 (GRCm39) |
I116K |
possibly damaging |
Het |
BC051665 |
A |
G |
13: 60,932,422 (GRCm39) |
|
probably benign |
Het |
Cactin |
G |
T |
10: 81,159,837 (GRCm39) |
E89* |
probably null |
Het |
Carf |
G |
T |
1: 60,165,073 (GRCm39) |
|
probably benign |
Het |
Ccdc167 |
A |
G |
17: 29,924,235 (GRCm39) |
|
probably benign |
Het |
Ceacam3 |
G |
A |
7: 16,885,808 (GRCm39) |
|
probably null |
Het |
Clca4b |
T |
A |
3: 144,621,353 (GRCm39) |
K574* |
probably null |
Het |
Crabp1 |
T |
A |
9: 54,672,887 (GRCm39) |
I64N |
probably damaging |
Het |
Dgkd |
T |
A |
1: 87,842,826 (GRCm39) |
I118N |
probably damaging |
Het |
Dglucy |
T |
C |
12: 100,825,777 (GRCm39) |
|
probably benign |
Het |
Dock10 |
C |
T |
1: 80,518,936 (GRCm39) |
|
probably benign |
Het |
Ednrb |
A |
T |
14: 104,060,710 (GRCm39) |
|
probably null |
Het |
Ercc6 |
T |
C |
14: 32,279,973 (GRCm39) |
|
probably benign |
Het |
Golga3 |
A |
C |
5: 110,336,609 (GRCm39) |
Q416P |
probably damaging |
Het |
Gpr12 |
A |
G |
5: 146,520,445 (GRCm39) |
V159A |
probably benign |
Het |
Heatr5a |
A |
T |
12: 51,956,884 (GRCm39) |
|
probably benign |
Het |
Helz2 |
A |
G |
2: 180,873,909 (GRCm39) |
I2195T |
probably damaging |
Het |
Hikeshi |
A |
T |
7: 89,569,295 (GRCm39) |
N76K |
possibly damaging |
Het |
Hsd11b1 |
T |
C |
1: 192,911,984 (GRCm39) |
|
probably benign |
Het |
Iftap |
A |
T |
2: 101,406,462 (GRCm39) |
D155E |
probably benign |
Het |
Inhba |
A |
T |
13: 16,201,405 (GRCm39) |
K322N |
probably damaging |
Het |
Katnal1 |
A |
T |
5: 148,829,326 (GRCm39) |
F291L |
probably damaging |
Het |
Kcnj9 |
T |
C |
1: 172,150,665 (GRCm39) |
E316G |
probably damaging |
Het |
Lrsam1 |
A |
G |
2: 32,823,935 (GRCm39) |
|
probably benign |
Het |
Mcf2l |
T |
G |
8: 13,068,751 (GRCm39) |
S1075A |
probably benign |
Het |
Mios |
T |
C |
6: 8,215,470 (GRCm39) |
V222A |
possibly damaging |
Het |
Mycbp2 |
A |
T |
14: 103,433,827 (GRCm39) |
|
probably benign |
Het |
Nars1 |
A |
T |
18: 64,633,638 (GRCm39) |
I544N |
probably damaging |
Het |
Or5ak23 |
A |
G |
2: 85,245,034 (GRCm39) |
L63P |
possibly damaging |
Het |
Pbrm1 |
A |
G |
14: 30,768,387 (GRCm39) |
|
probably benign |
Het |
Plcb4 |
A |
G |
2: 135,796,932 (GRCm39) |
|
probably benign |
Het |
Pnliprp1 |
A |
G |
19: 58,723,138 (GRCm39) |
D213G |
probably damaging |
Het |
Psap |
A |
G |
10: 60,136,634 (GRCm39) |
N538D |
possibly damaging |
Het |
Ptdss1 |
A |
G |
13: 67,120,714 (GRCm39) |
|
probably benign |
Het |
Rap1b |
G |
A |
10: 117,654,522 (GRCm39) |
|
probably benign |
Het |
Rhcg |
T |
A |
7: 79,244,520 (GRCm39) |
|
probably benign |
Het |
Ryr1 |
G |
A |
7: 28,804,220 (GRCm39) |
T550I |
possibly damaging |
Het |
Samm50 |
G |
A |
15: 84,095,369 (GRCm39) |
G452R |
probably benign |
Het |
Scin |
A |
G |
12: 40,130,929 (GRCm39) |
|
probably null |
Het |
Sesn3 |
T |
C |
9: 14,219,854 (GRCm39) |
L81S |
probably damaging |
Het |
Skint6 |
A |
C |
4: 112,715,366 (GRCm39) |
|
probably benign |
Het |
Slc30a4 |
A |
T |
2: 122,527,160 (GRCm39) |
L411H |
probably damaging |
Het |
Slc44a5 |
C |
T |
3: 153,939,782 (GRCm39) |
|
probably benign |
Het |
Slc4a3 |
C |
T |
1: 75,525,665 (GRCm39) |
A255V |
probably damaging |
Het |
Slc9b1 |
A |
G |
3: 135,088,593 (GRCm39) |
N318S |
possibly damaging |
Het |
Tcp11l2 |
A |
T |
10: 84,440,458 (GRCm39) |
H287L |
probably benign |
Het |
Tnks2 |
T |
A |
19: 36,849,962 (GRCm39) |
Y605N |
probably damaging |
Het |
Topbp1 |
T |
A |
9: 103,227,037 (GRCm39) |
N1490K |
probably benign |
Het |
Ube4b |
T |
G |
4: 149,442,034 (GRCm39) |
|
probably benign |
Het |
Usp4 |
G |
A |
9: 108,225,228 (GRCm39) |
|
probably benign |
Het |
Vezf1 |
A |
T |
11: 88,068,435 (GRCm38) |
|
probably benign |
Het |
Vmn1r184 |
A |
T |
7: 25,966,500 (GRCm39) |
D82V |
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 |
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 |
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'- CCAGAAACTTGCATCAGCCTTAGTATCA -3'
(R):5'- ACACACATGGAGCAAAGAAGTTGTGTT -3'
Sequencing Primer
(F):5'- ccagtatgatctacattgtaagttcc -3'
(R):5'- tcagaaatccgcctgcc -3'
|
Posted On |
2013-07-11 |