Incidental Mutation 'IGL03399:Tex10'
ID |
421345 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Tex10
|
Ensembl Gene |
ENSMUSG00000028345 |
Gene Name |
testis expressed gene 10 |
Synonyms |
clone 18330, 2810462N03Rik, 2610206N19Rik |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.952)
|
Stock # |
IGL03399
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
48430858-48473459 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 48459915 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Aspartic acid
at position 479
(N479D)
|
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: N479D
PolyPhen 2
Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000030030 Gene: ENSMUSG00000028345 AA Change: N479D
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: N479D
PolyPhen 2
Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000132498 Gene: ENSMUSG00000028345 AA Change: N479D
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 |
|
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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acss1 |
C |
T |
2: 150,479,798 (GRCm39) |
G303D |
probably damaging |
Het |
Adam6b |
A |
T |
12: 113,454,728 (GRCm39) |
Y515F |
probably damaging |
Het |
Birc2 |
A |
T |
9: 7,821,088 (GRCm39) |
L412Q |
probably damaging |
Het |
Birc6 |
T |
C |
17: 74,901,368 (GRCm39) |
I1144T |
probably benign |
Het |
Dip2b |
A |
T |
15: 100,073,208 (GRCm39) |
N770I |
possibly damaging |
Het |
Dmxl2 |
T |
C |
9: 54,353,956 (GRCm39) |
N671D |
probably damaging |
Het |
Dpyd |
A |
G |
3: 119,108,426 (GRCm39) |
D823G |
probably damaging |
Het |
Eif5 |
A |
G |
12: 111,511,024 (GRCm39) |
D367G |
probably damaging |
Het |
Exog |
T |
G |
9: 119,276,017 (GRCm39) |
S56A |
possibly damaging |
Het |
Hap1 |
C |
A |
11: 100,245,093 (GRCm39) |
M39I |
possibly damaging |
Het |
Hsd17b6 |
A |
T |
10: 127,829,625 (GRCm39) |
H192Q |
probably benign |
Het |
Insrr |
T |
A |
3: 87,716,638 (GRCm39) |
L622Q |
probably null |
Het |
Kars1 |
G |
T |
8: 112,734,926 (GRCm39) |
A20E |
probably benign |
Het |
Kyat3 |
A |
G |
3: 142,431,771 (GRCm39) |
D197G |
probably damaging |
Het |
Mapk9 |
T |
A |
11: 49,774,126 (GRCm39) |
|
probably benign |
Het |
Naip1 |
A |
T |
13: 100,545,426 (GRCm39) |
D1367E |
probably damaging |
Het |
Oaz1 |
G |
A |
10: 80,664,176 (GRCm39) |
S84N |
probably benign |
Het |
Ofcc1 |
T |
C |
13: 40,296,314 (GRCm39) |
R507G |
possibly damaging |
Het |
Or1j16 |
T |
G |
2: 36,530,894 (GRCm39) |
V281G |
possibly damaging |
Het |
Or5p6 |
A |
G |
7: 107,630,789 (GRCm39) |
F254L |
probably benign |
Het |
Or8g24 |
A |
T |
9: 38,989,533 (GRCm39) |
C169* |
probably null |
Het |
Pclo |
T |
A |
5: 14,816,745 (GRCm39) |
D4540E |
unknown |
Het |
Ppp6r1 |
A |
G |
7: 4,646,251 (GRCm39) |
V150A |
probably damaging |
Het |
Prdm2 |
T |
C |
4: 142,861,658 (GRCm39) |
D544G |
probably benign |
Het |
Rab27b |
A |
G |
18: 70,120,067 (GRCm39) |
I128T |
possibly damaging |
Het |
Scart2 |
G |
A |
7: 139,827,869 (GRCm39) |
E26K |
probably benign |
Het |
Slc25a1 |
G |
T |
16: 17,743,684 (GRCm39) |
T195K |
probably damaging |
Het |
Thsd7b |
G |
T |
1: 129,556,622 (GRCm39) |
W326L |
probably damaging |
Het |
Tril |
T |
C |
6: 53,797,042 (GRCm39) |
D60G |
probably benign |
Het |
Ttn |
C |
T |
2: 76,615,625 (GRCm39) |
R14984H |
probably damaging |
Het |
Uba2 |
G |
A |
7: 33,843,939 (GRCm39) |
T12I |
probably damaging |
Het |
Vmn2r107 |
T |
C |
17: 20,578,220 (GRCm39) |
|
probably benign |
Het |
Vti1a |
A |
G |
19: 55,487,703 (GRCm39) |
K183R |
probably benign |
Het |
Zkscan16 |
T |
C |
4: 58,956,915 (GRCm39) |
V399A |
probably benign |
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 |
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 |
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 |
|
Posted On |
2016-08-02 |