Incidental Mutation 'R6223:Tex10'
ID |
504130 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tex10
|
Ensembl Gene |
ENSMUSG00000028345 |
Gene Name |
testis expressed gene 10 |
Synonyms |
clone 18330, 2810462N03Rik, 2610206N19Rik |
MMRRC Submission |
044354-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.952)
|
Stock # |
R6223 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
48430858-48473459 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 48468525 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glycine
at position 134
(R134G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000114669
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030030]
[ENSMUST00000155905]
[ENSMUST00000164866]
|
AlphaFold |
Q3URQ0 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000030030
AA Change: R217G
PolyPhen 2
Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000030030 Gene: ENSMUSG00000028345 AA Change: R217G
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: ENSMUST00000132911
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155750
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000155905
AA Change: R134G
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000114669 Gene: ENSMUSG00000028345 AA Change: R134G
Domain | Start | End | E-Value | Type |
Pfam:Ipi1_N
|
47 |
152 |
3.4e-24 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000164866
AA Change: R217G
PolyPhen 2
Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000132498 Gene: ENSMUSG00000028345 AA Change: R217G
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: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.6%
|
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
6820408C15Rik |
A |
C |
2: 152,269,873 (GRCm39) |
R8S |
probably benign |
Het |
Abca8b |
A |
G |
11: 109,868,672 (GRCm39) |
V164A |
probably benign |
Het |
Acadm |
C |
A |
3: 153,644,186 (GRCm39) |
|
probably null |
Het |
Ap3b2 |
G |
A |
7: 81,123,210 (GRCm39) |
R435* |
probably null |
Het |
Art2b |
A |
G |
7: 101,229,158 (GRCm39) |
F247S |
possibly damaging |
Het |
C1rb |
T |
A |
6: 124,551,539 (GRCm39) |
D216E |
probably benign |
Het |
Casz1 |
C |
A |
4: 149,017,840 (GRCm39) |
D90E |
probably damaging |
Het |
Ccdc13 |
A |
G |
9: 121,627,975 (GRCm39) |
|
probably benign |
Het |
Cdc25a |
C |
A |
9: 109,718,842 (GRCm39) |
P409T |
possibly damaging |
Het |
Cidea |
A |
C |
18: 67,491,809 (GRCm39) |
K23T |
possibly damaging |
Het |
Clspn |
T |
A |
4: 126,479,961 (GRCm39) |
D1101E |
probably damaging |
Het |
Col10a1 |
A |
T |
10: 34,271,183 (GRCm39) |
D385V |
probably damaging |
Het |
Crat |
C |
T |
2: 30,297,042 (GRCm39) |
V304I |
probably benign |
Het |
Cyp2d26 |
A |
T |
15: 82,675,918 (GRCm39) |
W265R |
probably benign |
Het |
Dock8 |
A |
T |
19: 25,138,416 (GRCm39) |
Y1247F |
probably benign |
Het |
Dync2i1 |
T |
C |
12: 116,221,078 (GRCm39) |
D11G |
possibly damaging |
Het |
Eed |
A |
G |
7: 89,605,495 (GRCm39) |
Y365H |
probably damaging |
Het |
Fabp5 |
T |
A |
3: 10,080,170 (GRCm39) |
F73L |
probably benign |
Het |
Fbn1 |
C |
T |
2: 125,254,591 (GRCm39) |
C224Y |
possibly damaging |
Het |
Ggcx |
T |
C |
6: 72,406,588 (GRCm39) |
F684L |
probably damaging |
Het |
Glrp1 |
G |
A |
1: 88,431,164 (GRCm39) |
Q69* |
probably null |
Het |
Gm29797 |
T |
C |
2: 181,300,850 (GRCm39) |
V115A |
possibly damaging |
Het |
Gtf3c1 |
C |
T |
7: 125,275,797 (GRCm39) |
R543K |
probably benign |
Het |
Ifih1 |
T |
C |
2: 62,428,603 (GRCm39) |
I891V |
probably benign |
Het |
Ifnar2 |
C |
T |
16: 91,184,876 (GRCm39) |
T89M |
probably damaging |
Het |
Kat6a |
C |
A |
8: 23,430,442 (GRCm39) |
N1932K |
unknown |
Het |
Mgat5 |
A |
T |
1: 127,310,716 (GRCm39) |
D210V |
possibly damaging |
Het |
Mmel1 |
A |
G |
4: 154,956,159 (GRCm39) |
|
probably null |
Het |
Myh3 |
G |
T |
11: 66,988,843 (GRCm39) |
V1499L |
probably benign |
Het |
Ncan |
A |
C |
8: 70,562,604 (GRCm39) |
D551E |
probably benign |
Het |
Nol11 |
G |
T |
11: 107,062,442 (GRCm39) |
T598K |
possibly damaging |
Het |
Olfml3 |
G |
A |
3: 103,643,776 (GRCm39) |
R202W |
probably damaging |
Het |
Or2w4 |
G |
A |
13: 21,795,536 (GRCm39) |
T201I |
probably benign |
Het |
Or4e2 |
A |
G |
14: 52,688,136 (GRCm39) |
R89G |
probably benign |
Het |
Pcdh9 |
T |
C |
14: 93,253,169 (GRCm39) |
K1131E |
probably benign |
Het |
Pcolce |
A |
G |
5: 137,603,561 (GRCm39) |
M424T |
probably damaging |
Het |
Pi16 |
C |
A |
17: 29,546,413 (GRCm39) |
S397* |
probably null |
Het |
Pi4ka |
A |
T |
16: 17,175,435 (GRCm39) |
Y464* |
probably null |
Het |
Pik3c2b |
T |
A |
1: 132,998,095 (GRCm39) |
L324M |
probably damaging |
Het |
Prdm2 |
T |
C |
4: 142,868,777 (GRCm39) |
N179S |
probably benign |
Het |
Prss56 |
C |
T |
1: 87,113,134 (GRCm39) |
P183S |
probably benign |
Het |
Prx |
T |
G |
7: 27,216,261 (GRCm39) |
M393R |
probably damaging |
Het |
Qpctl |
T |
C |
7: 18,877,134 (GRCm39) |
D328G |
probably damaging |
Het |
Qser1 |
A |
G |
2: 104,617,993 (GRCm39) |
S940P |
probably benign |
Het |
Rchy1 |
G |
A |
5: 92,105,826 (GRCm39) |
R41W |
probably damaging |
Het |
Scp2d1 |
T |
C |
2: 144,665,868 (GRCm39) |
I69T |
possibly damaging |
Het |
Sirpb1a |
A |
G |
3: 15,444,086 (GRCm39) |
V388A |
probably benign |
Het |
Ssu2 |
G |
T |
6: 112,353,409 (GRCm39) |
C238* |
probably null |
Het |
Stub1 |
C |
T |
17: 26,051,787 (GRCm39) |
G14D |
probably damaging |
Het |
Tab1 |
T |
A |
15: 80,032,464 (GRCm39) |
C24S |
probably damaging |
Het |
Tdrd1 |
T |
C |
19: 56,854,282 (GRCm39) |
V1076A |
probably damaging |
Het |
Tg |
T |
A |
15: 66,579,771 (GRCm39) |
N1525K |
probably benign |
Het |
Tll2 |
G |
A |
19: 41,124,391 (GRCm39) |
T208I |
possibly damaging |
Het |
Tmem232 |
T |
C |
17: 65,807,191 (GRCm39) |
M1V |
probably null |
Het |
Ttc7b |
A |
G |
12: 100,353,368 (GRCm39) |
|
probably null |
Het |
Ubb |
A |
G |
11: 62,443,351 (GRCm39) |
E127G |
possibly damaging |
Het |
Ulk2 |
A |
T |
11: 61,678,330 (GRCm39) |
Y796* |
probably null |
Het |
Vdac2 |
G |
A |
14: 21,895,246 (GRCm39) |
G265R |
possibly damaging |
Het |
Vmn2r45 |
A |
T |
7: 8,486,301 (GRCm39) |
V329E |
probably benign |
Het |
Zbtb47 |
G |
A |
9: 121,592,853 (GRCm39) |
R391Q |
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 |
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 |
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'- TCGTTGGCATGATCCTTCCAG -3'
(R):5'- AAGTGCCCATCTCTCTAGTGC -3'
Sequencing Primer
(F):5'- GTTGATAAAAATGGAGTTGCTAGTGG -3'
(R):5'- GTGCCATGACTCACATTACTGAAGG -3'
|
Posted On |
2018-02-28 |