Incidental Mutation 'R8084:Tex10'
| ID |
629502 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tex10
|
| Ensembl Gene |
ENSMUSG00000028345 |
| Gene Name |
testis expressed gene 10 |
| Synonyms |
clone 18330, 2810462N03Rik, 2610206N19Rik |
| MMRRC Submission |
067517-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.947)
|
| Stock # |
R8084 (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 T
at 48431066 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 897
(S897R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030030
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030029]
[ENSMUST00000030030]
[ENSMUST00000143433]
[ENSMUST00000155905]
[ENSMUST00000164866]
|
| AlphaFold |
Q3URQ0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030029
|
| SMART Domains |
Protein: ENSMUSP00000030029
Gene: ENSMUSG00000028344
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
47 |
76 |
2.66e-5 |
SMART |
|
ANK
|
80 |
110 |
1.8e-2 |
SMART |
|
ANK
|
113 |
144 |
1.63e0 |
SMART |
|
ANK
|
148 |
177 |
6.46e-4 |
SMART |
|
ANK
|
181 |
215 |
3.44e1 |
SMART |
|
ANK
|
220 |
250 |
1.11e-2 |
SMART |
|
ANK
|
254 |
285 |
2.07e-2 |
SMART |
|
ANK
|
288 |
317 |
3.18e-3 |
SMART |
|
ANK
|
321 |
350 |
3.91e-3 |
SMART |
|
ANK
|
356 |
385 |
2.28e-4 |
SMART |
|
ANK
|
389 |
418 |
8.39e-3 |
SMART |
|
ANK
|
422 |
451 |
3.76e-5 |
SMART |
|
ANK
|
455 |
484 |
2.45e-4 |
SMART |
|
ANK
|
488 |
517 |
1.31e-4 |
SMART |
|
ANK
|
523 |
553 |
6.71e-2 |
SMART |
|
IQ
|
554 |
576 |
5.75e-2 |
SMART |
|
low complexity region
|
589 |
607 |
N/A |
INTRINSIC |
|
IQ
|
913 |
935 |
2.46e-1 |
SMART |
|
low complexity region
|
973 |
989 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030030
AA Change: S897R
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000030030
Gene: ENSMUSG00000028345
AA Change: S897R
| 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: ENSMUST00000143433
|
| SMART Domains |
Protein: ENSMUSP00000138580
Gene: ENSMUSG00000028344
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
47 |
76 |
2.66e-5 |
SMART |
|
ANK
|
80 |
110 |
1.8e-2 |
SMART |
|
ANK
|
113 |
144 |
1.63e0 |
SMART |
|
ANK
|
164 |
194 |
1.11e-2 |
SMART |
|
ANK
|
198 |
229 |
2.07e-2 |
SMART |
|
ANK
|
232 |
261 |
3.18e-3 |
SMART |
|
ANK
|
265 |
294 |
3.91e-3 |
SMART |
|
ANK
|
300 |
329 |
2.28e-4 |
SMART |
|
ANK
|
333 |
362 |
8.39e-3 |
SMART |
|
ANK
|
366 |
395 |
3.76e-5 |
SMART |
|
ANK
|
399 |
428 |
2.45e-4 |
SMART |
|
| 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: S897R
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000132498
Gene: ENSMUSG00000028345
AA Change: S897R
| 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: 99.8%
- 3x: 99.7%
- 10x: 98.9%
- 20x: 96.2%
|
| Validation Efficiency |
100% (75/75) |
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca2 |
T |
A |
2: 25,323,979 (GRCm39) |
Y190N |
probably benign |
Het |
| Acsl3 |
G |
A |
1: 78,669,844 (GRCm39) |
D238N |
probably damaging |
Het |
| Acss1 |
T |
A |
2: 150,484,701 (GRCm39) |
I181F |
probably damaging |
Het |
| Ano5 |
A |
G |
7: 51,229,287 (GRCm39) |
I610V |
probably benign |
Het |
| Anxa6 |
A |
T |
11: 54,894,834 (GRCm39) |
F256I |
probably damaging |
Het |
| Ash2l |
A |
G |
8: 26,321,322 (GRCm39) |
S273P |
probably benign |
Het |
| Baz2b |
T |
G |
2: 59,792,580 (GRCm39) |
E516A |
probably benign |
Het |
| Bbs2 |
G |
T |
8: 94,814,056 (GRCm39) |
D187E |
probably damaging |
Het |
| Cacna1b |
T |
A |
2: 24,575,808 (GRCm39) |
M747L |
probably benign |
Het |
| Cacna2d4 |
C |
A |
6: 119,277,313 (GRCm39) |
D675E |
probably damaging |
Het |
| Calcr |
G |
A |
6: 3,687,615 (GRCm39) |
T461M |
probably benign |
Het |
| Catip |
A |
G |
1: 74,403,515 (GRCm39) |
K126E |
probably damaging |
Het |
| Chga |
T |
C |
12: 102,528,328 (GRCm39) |
I273T |
probably benign |
Het |
| Clasp2 |
G |
A |
9: 113,676,823 (GRCm39) |
V185I |
probably benign |
Het |
| Cracr2a |
A |
G |
6: 127,616,135 (GRCm39) |
N370S |
probably benign |
Het |
| Crygc |
A |
T |
1: 65,110,981 (GRCm39) |
V102D |
probably benign |
Het |
| Ddx23 |
A |
G |
15: 98,556,145 (GRCm39) |
S58P |
unknown |
Het |
| Dlgap5 |
C |
T |
14: 47,645,298 (GRCm39) |
G281D |
probably benign |
Het |
| Dnah5 |
A |
T |
15: 28,388,099 (GRCm39) |
Y3186F |
probably damaging |
Het |
| Dpp6 |
A |
C |
5: 27,836,397 (GRCm39) |
I296L |
probably benign |
Het |
| Elfn2 |
C |
T |
15: 78,556,660 (GRCm39) |
R629H |
probably damaging |
Het |
| Eml2 |
G |
T |
7: 18,915,149 (GRCm39) |
|
probably null |
Het |
| Fitm1 |
T |
A |
14: 55,813,906 (GRCm39) |
V134E |
probably damaging |
Het |
| Flnb |
A |
G |
14: 7,907,243 (GRCm38) |
N1272S |
probably benign |
Het |
| Fuca1 |
G |
A |
4: 135,662,114 (GRCm39) |
W347* |
probably null |
Het |
| Gabbr2 |
C |
T |
4: 46,736,349 (GRCm39) |
|
probably null |
Het |
| Gls2 |
G |
A |
10: 128,035,125 (GRCm39) |
R86H |
probably damaging |
Het |
| Grin2b |
T |
C |
6: 135,710,486 (GRCm39) |
K1020R |
probably benign |
Het |
| H2-DMb1 |
T |
A |
17: 34,376,327 (GRCm39) |
W149R |
probably damaging |
Het |
| Herc1 |
T |
A |
9: 66,383,217 (GRCm39) |
S3629R |
probably benign |
Het |
| Itih4 |
A |
T |
14: 30,621,400 (GRCm39) |
N821I |
possibly damaging |
Het |
| Kmt2d |
A |
T |
15: 98,739,945 (GRCm39) |
L4731Q |
unknown |
Het |
| Loxhd1 |
A |
T |
18: 77,427,845 (GRCm39) |
I472F |
possibly damaging |
Het |
| Lrp2 |
C |
A |
2: 69,339,713 (GRCm39) |
C1066F |
probably damaging |
Het |
| Mllt10 |
T |
A |
2: 18,114,637 (GRCm39) |
F114I |
probably damaging |
Het |
| N4bp1 |
T |
C |
8: 87,587,636 (GRCm39) |
E434G |
probably benign |
Het |
| N6amt1 |
T |
C |
16: 87,151,228 (GRCm39) |
F30L |
probably damaging |
Het |
| Naca |
G |
A |
10: 127,877,400 (GRCm39) |
V811I |
unknown |
Het |
| Nobox |
A |
C |
6: 43,282,101 (GRCm39) |
I324S |
possibly damaging |
Het |
| Nup210l |
T |
C |
3: 90,043,365 (GRCm39) |
S442P |
probably benign |
Het |
| Or6c2 |
A |
T |
10: 129,362,809 (GRCm39) |
T238S |
probably damaging |
Het |
| Osbpl1a |
A |
T |
18: 13,038,099 (GRCm39) |
L284Q |
probably damaging |
Het |
| Pals1 |
A |
T |
12: 78,867,625 (GRCm39) |
Q336L |
probably benign |
Het |
| Pcdhb20 |
A |
C |
18: 37,639,226 (GRCm39) |
Y584S |
possibly damaging |
Het |
| Pgpep1l |
A |
T |
7: 67,887,519 (GRCm39) |
F27Y |
probably benign |
Het |
| Pik3cg |
T |
G |
12: 32,245,687 (GRCm39) |
I854L |
probably benign |
Het |
| Pot1a |
C |
T |
6: 25,771,535 (GRCm39) |
V229M |
possibly damaging |
Het |
| Prh1 |
C |
T |
6: 132,548,822 (GRCm39) |
P110S |
unknown |
Het |
| Prkag3 |
C |
T |
1: 74,786,366 (GRCm39) |
C193Y |
probably damaging |
Het |
| Prl2c5 |
T |
C |
13: 13,360,539 (GRCm39) |
F69L |
probably benign |
Het |
| Ptprq |
T |
C |
10: 107,444,294 (GRCm39) |
T1437A |
probably benign |
Het |
| Rabgap1 |
T |
C |
2: 37,427,317 (GRCm39) |
Y633H |
probably damaging |
Het |
| Rad54l2 |
G |
A |
9: 106,590,701 (GRCm39) |
T475I |
possibly damaging |
Het |
| Retreg1 |
C |
A |
15: 25,969,885 (GRCm39) |
A130E |
probably benign |
Het |
| Rps6kb1 |
G |
T |
11: 86,426,262 (GRCm39) |
H56N |
probably benign |
Het |
| Sars2 |
A |
G |
7: 28,449,710 (GRCm39) |
H385R |
probably damaging |
Het |
| Sbpl |
T |
G |
17: 24,172,244 (GRCm39) |
N225T |
unknown |
Het |
| Scml4 |
T |
C |
10: 42,806,602 (GRCm39) |
|
probably null |
Het |
| Scrib |
G |
A |
15: 75,937,940 (GRCm39) |
T302M |
probably benign |
Het |
| Sdk2 |
G |
A |
11: 113,717,915 (GRCm39) |
T1483I |
possibly damaging |
Het |
| Sh3bgrl3 |
A |
G |
4: 133,855,390 (GRCm39) |
S19P |
probably damaging |
Het |
| Slc10a6 |
C |
T |
5: 103,760,327 (GRCm39) |
V223I |
probably benign |
Het |
| Slc4a3 |
A |
G |
1: 75,532,589 (GRCm39) |
T950A |
probably benign |
Het |
| Spats2 |
A |
T |
15: 99,064,961 (GRCm39) |
D9V |
possibly damaging |
Het |
| Sphk1 |
A |
T |
11: 116,425,904 (GRCm39) |
|
probably null |
Het |
| Tmco3 |
T |
C |
8: 13,353,873 (GRCm39) |
V395A |
probably damaging |
Het |
| Ttc7b |
A |
G |
12: 100,350,432 (GRCm39) |
L478P |
probably damaging |
Het |
| Ubac2 |
T |
C |
14: 122,220,717 (GRCm39) |
M184T |
probably benign |
Het |
| Wdr95 |
T |
C |
5: 149,511,598 (GRCm39) |
S433P |
probably damaging |
Het |
| Zfp202 |
T |
A |
9: 40,122,538 (GRCm39) |
H433Q |
probably benign |
Het |
| Zfp526 |
G |
T |
7: 24,924,737 (GRCm39) |
R332L |
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 |
|
|
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 |
|
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'- GGCAAACATCTGTTACATCAGTCTTTC -3'
(R):5'- GTTAAGTAACTCCCAACAGTTGGTTG -3'
Sequencing Primer
(F):5'- CAAACAGGAGGTACCATG -3'
(R):5'- CAACAGCTTTTGGGATAGCC -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation