Incidental Mutation 'R9030:Tex10'
| ID |
686984 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tex10
|
| Ensembl Gene |
ENSMUSG00000028345 |
| Gene Name |
testis expressed gene 10 |
| Synonyms |
clone 18330, 2810462N03Rik, 2610206N19Rik |
| MMRRC Submission |
068859-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.952)
|
| Stock # |
R9030 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
48430858-48473459 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 48452056 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 690
(F690S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030030
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030030]
[ENSMUST00000155905]
[ENSMUST00000164866]
|
| AlphaFold |
Q3URQ0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030030
AA Change: F690S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000030030
Gene: ENSMUSG00000028345
AA Change: F690S
| 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 |
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: F690S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000132498
Gene: ENSMUSG00000028345
AA Change: F690S
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (57/57) |
| 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 |
|---|
| Actr5 |
A |
C |
2: 158,474,321 (GRCm39) |
I375L |
probably benign |
Het |
| Adgrl2 |
G |
T |
3: 148,544,761 (GRCm39) |
T778K |
possibly damaging |
Het |
| Ccn3 |
A |
T |
15: 54,615,687 (GRCm39) |
Y284F |
probably damaging |
Het |
| Cdc73 |
A |
T |
1: 143,485,234 (GRCm39) |
L478H |
probably damaging |
Het |
| Cdh20 |
C |
A |
1: 110,027,843 (GRCm39) |
H529Q |
probably benign |
Het |
| Cep55 |
T |
C |
19: 38,059,592 (GRCm39) |
|
probably null |
Het |
| Chd9 |
G |
A |
8: 91,683,198 (GRCm39) |
R546Q |
unknown |
Het |
| Ddit4 |
A |
T |
10: 59,786,515 (GRCm39) |
L178Q |
probably damaging |
Het |
| Dgke |
A |
T |
11: 88,941,237 (GRCm39) |
N315K |
possibly damaging |
Het |
| Dsg1a |
A |
G |
18: 20,473,549 (GRCm39) |
D874G |
probably damaging |
Het |
| Dsp |
T |
A |
13: 38,352,673 (GRCm39) |
Y184N |
probably damaging |
Het |
| Dynlt1c |
A |
G |
17: 6,870,916 (GRCm39) |
I20V |
probably benign |
Het |
| Ephx4 |
A |
G |
5: 107,577,549 (GRCm39) |
H291R |
possibly damaging |
Het |
| Epx |
A |
T |
11: 87,763,470 (GRCm39) |
M250K |
probably benign |
Het |
| Fan1 |
T |
C |
7: 64,022,761 (GRCm39) |
Y164C |
probably benign |
Het |
| Fer1l6 |
A |
T |
15: 58,502,594 (GRCm39) |
Y1365F |
probably damaging |
Het |
| Fndc8 |
A |
G |
11: 82,789,522 (GRCm39) |
T227A |
probably benign |
Het |
| Gbp7 |
T |
C |
3: 142,243,798 (GRCm39) |
I115T |
probably damaging |
Het |
| Gm5145 |
A |
G |
17: 20,791,270 (GRCm39) |
E216G |
probably benign |
Het |
| Gm94 |
A |
T |
18: 43,914,326 (GRCm39) |
F77L |
possibly damaging |
Het |
| Grik3 |
C |
A |
4: 125,526,185 (GRCm39) |
H139Q |
probably benign |
Het |
| Gucy2e |
T |
C |
11: 69,115,827 (GRCm39) |
T852A |
probably damaging |
Het |
| Hif1a |
T |
C |
12: 73,983,010 (GRCm39) |
S274P |
probably damaging |
Het |
| Hmcn1 |
T |
A |
1: 150,692,870 (GRCm39) |
I268L |
probably benign |
Het |
| Klk15 |
C |
T |
7: 43,587,790 (GRCm39) |
H73Y |
possibly damaging |
Het |
| Lin52 |
T |
A |
12: 84,592,681 (GRCm39) |
S87T |
|
Het |
| Lrrc74b |
A |
G |
16: 17,367,640 (GRCm39) |
|
probably null |
Het |
| Mapk10 |
T |
C |
5: 103,144,499 (GRCm39) |
K136R |
probably damaging |
Het |
| Nlrp2 |
A |
T |
7: 5,325,457 (GRCm39) |
N738K |
probably null |
Het |
| Nlrp5 |
A |
T |
7: 23,129,573 (GRCm39) |
Q880L |
possibly damaging |
Het |
| Or2y11 |
T |
A |
11: 49,442,808 (GRCm39) |
V78E |
probably damaging |
Het |
| Or5d39 |
A |
T |
2: 87,979,718 (GRCm39) |
I215N |
possibly damaging |
Het |
| Or6c215 |
G |
T |
10: 129,637,926 (GRCm39) |
P156Q |
probably damaging |
Het |
| P4htm |
G |
A |
9: 108,474,627 (GRCm39) |
P46L |
probably benign |
Het |
| Pcsk4 |
A |
T |
10: 80,164,858 (GRCm39) |
H69Q |
probably damaging |
Het |
| Pdzd2 |
A |
G |
15: 12,374,385 (GRCm39) |
S1917P |
probably benign |
Het |
| Pnpla5 |
A |
G |
15: 83,998,087 (GRCm39) |
V385A |
possibly damaging |
Het |
| Prorp |
T |
C |
12: 55,426,192 (GRCm39) |
F514S |
probably damaging |
Het |
| Rims2 |
C |
T |
15: 39,339,873 (GRCm39) |
R856C |
probably damaging |
Het |
| Rprd2 |
A |
G |
3: 95,691,622 (GRCm39) |
Y218H |
probably benign |
Het |
| Sat2 |
T |
A |
11: 69,513,069 (GRCm39) |
|
probably benign |
Het |
| Sf1 |
C |
T |
19: 6,426,336 (GRCm39) |
R186C |
|
Het |
| Snrnp200 |
A |
G |
2: 127,053,466 (GRCm39) |
|
probably benign |
Het |
| Sqor |
A |
T |
2: 122,629,514 (GRCm39) |
D124V |
probably benign |
Het |
| Ssh2 |
A |
G |
11: 77,312,062 (GRCm39) |
H191R |
possibly damaging |
Het |
| Stac |
C |
A |
9: 111,519,320 (GRCm39) |
|
probably benign |
Het |
| Svs4 |
T |
C |
2: 164,119,058 (GRCm39) |
M93V |
unknown |
Het |
| Tbc1d32 |
A |
T |
10: 56,037,241 (GRCm39) |
S668T |
possibly damaging |
Het |
| Tex30 |
A |
G |
1: 44,130,356 (GRCm39) |
M88T |
|
Het |
| Tgfbrap1 |
T |
C |
1: 43,095,837 (GRCm39) |
T534A |
probably benign |
Het |
| Tmco1 |
C |
T |
1: 167,136,132 (GRCm39) |
|
probably benign |
Het |
| Tnrc18 |
T |
C |
5: 142,711,818 (GRCm39) |
E2647G |
probably damaging |
Het |
| Trim43a |
GATTTATTTATTTATTTATTTATTTATTTATTTATTTATT |
GATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATT |
9: 88,465,042 (GRCm39) |
|
probably benign |
Het |
| Tubb3 |
A |
T |
8: 124,145,696 (GRCm39) |
R62W |
probably damaging |
Het |
| Vmn2r108 |
A |
G |
17: 20,690,312 (GRCm39) |
S507P |
probably benign |
Het |
| Vmn2r116 |
A |
G |
17: 23,603,864 (GRCm39) |
K30E |
possibly damaging |
Het |
| Vmn2r14 |
G |
A |
5: 109,368,054 (GRCm39) |
H313Y |
probably damaging |
Het |
| Wdr37 |
C |
T |
13: 8,885,424 (GRCm39) |
V340M |
probably damaging |
Het |
| Zfp799 |
A |
G |
17: 33,039,565 (GRCm39) |
F234L |
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 |
|
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 |
|
X0017:Tex10
|
UTSW |
4 |
48,460,080 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGTAGCAGCAGCATCTCAC -3'
(R):5'- GATCACATCCTTTGCATGTGTAG -3'
Sequencing Primer
(F):5'- CAAGCACTGGTGACGAAGC -3'
(R):5'- CCTTTGCATGTGTAGTTAATGTGAAC -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation