Incidental Mutation 'R9419:Tex2'
ID |
712241 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tex2
|
Ensembl Gene |
ENSMUSG00000040548 |
Gene Name |
testis expressed gene 2 |
Synonyms |
4930568E07Rik, Taz4, Def-5 |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9419 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
106392973-106504249 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to A
at 106457835 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Stop codon
at position 532
(Q532*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000041985
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042780]
[ENSMUST00000103070]
[ENSMUST00000128933]
[ENSMUST00000153870]
|
AlphaFold |
Q6ZPJ0 |
Predicted Effect |
probably null
Transcript: ENSMUST00000042780
AA Change: Q532*
|
SMART Domains |
Protein: ENSMUSP00000041985 Gene: ENSMUSG00000040548 AA Change: Q532*
Domain | Start | End | E-Value | Type |
low complexity region
|
119 |
186 |
N/A |
INTRINSIC |
low complexity region
|
319 |
341 |
N/A |
INTRINSIC |
low complexity region
|
346 |
360 |
N/A |
INTRINSIC |
transmembrane domain
|
473 |
492 |
N/A |
INTRINSIC |
transmembrane domain
|
494 |
516 |
N/A |
INTRINSIC |
PH
|
543 |
712 |
5.05e-1 |
SMART |
low complexity region
|
732 |
752 |
N/A |
INTRINSIC |
low complexity region
|
811 |
823 |
N/A |
INTRINSIC |
low complexity region
|
946 |
965 |
N/A |
INTRINSIC |
low complexity region
|
1003 |
1016 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000103070
AA Change: Q532*
|
SMART Domains |
Protein: ENSMUSP00000099359 Gene: ENSMUSG00000040548 AA Change: Q532*
Domain | Start | End | E-Value | Type |
low complexity region
|
119 |
186 |
N/A |
INTRINSIC |
low complexity region
|
319 |
341 |
N/A |
INTRINSIC |
low complexity region
|
346 |
360 |
N/A |
INTRINSIC |
transmembrane domain
|
473 |
492 |
N/A |
INTRINSIC |
transmembrane domain
|
494 |
516 |
N/A |
INTRINSIC |
PH
|
543 |
712 |
5.05e-1 |
SMART |
low complexity region
|
732 |
752 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000128933
|
SMART Domains |
Protein: ENSMUSP00000120781 Gene: ENSMUSG00000040548
Domain | Start | End | E-Value | Type |
low complexity region
|
119 |
168 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000153870
|
Predicted Effect |
probably null
Transcript: ENSMUST00000207249
AA Change: Q34*
|
Meta Mutation Damage Score |
0.9756 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
100% (47/47) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700064H15Rik |
T |
C |
3: 19,682,685 (GRCm39) |
T30A |
unknown |
Het |
Abca12 |
A |
G |
1: 71,342,649 (GRCm39) |
Y944H |
possibly damaging |
Het |
Adgrv1 |
T |
C |
13: 81,656,887 (GRCm39) |
N2869S |
probably benign |
Het |
Ank1 |
C |
A |
8: 23,574,825 (GRCm39) |
Q140K |
probably damaging |
Het |
Aspm |
T |
A |
1: 139,384,923 (GRCm39) |
M189K |
probably benign |
Het |
Atp2b1 |
G |
T |
10: 98,837,178 (GRCm39) |
R539L |
possibly damaging |
Het |
Camsap1 |
A |
G |
2: 25,845,304 (GRCm39) |
S152P |
|
Het |
Catsperd |
A |
T |
17: 56,958,821 (GRCm39) |
I276L |
probably benign |
Het |
Cbarp |
A |
G |
10: 79,967,861 (GRCm39) |
V460A |
probably damaging |
Het |
Ccdc168 |
T |
C |
1: 44,096,935 (GRCm39) |
I1388V |
probably benign |
Het |
Cd40 |
A |
T |
2: 164,904,162 (GRCm39) |
|
probably benign |
Het |
Cdk11b |
A |
T |
4: 155,724,302 (GRCm39) |
T307S |
unknown |
Het |
Chfr |
C |
T |
5: 110,317,056 (GRCm39) |
T643I |
probably damaging |
Het |
Cnbd1 |
T |
C |
4: 19,098,156 (GRCm39) |
Q88R |
probably benign |
Het |
Col15a1 |
G |
C |
4: 47,288,200 (GRCm39) |
|
probably benign |
Het |
Ghdc |
G |
T |
11: 100,661,081 (GRCm39) |
A28D |
probably damaging |
Het |
Gm5114 |
T |
C |
7: 39,057,540 (GRCm39) |
H693R |
possibly damaging |
Het |
H2-M1 |
G |
T |
17: 36,981,231 (GRCm39) |
A268E |
probably damaging |
Het |
Hsf5 |
A |
G |
11: 87,528,935 (GRCm39) |
N557D |
probably benign |
Het |
Ighg2c |
A |
G |
12: 113,251,015 (GRCm39) |
|
probably benign |
Het |
Il17ra |
C |
A |
6: 120,458,255 (GRCm39) |
Q469K |
possibly damaging |
Het |
Ipo8 |
T |
A |
6: 148,686,064 (GRCm39) |
N809Y |
probably benign |
Het |
Klra10 |
T |
A |
6: 130,256,435 (GRCm39) |
Q73L |
probably damaging |
Het |
Lamb2 |
T |
C |
9: 108,356,959 (GRCm39) |
V3A |
unknown |
Het |
Map3k9 |
T |
C |
12: 81,827,341 (GRCm39) |
Y103C |
probably damaging |
Het |
Map4 |
T |
C |
9: 109,882,029 (GRCm39) |
S298P |
possibly damaging |
Het |
Mtus2 |
T |
A |
5: 148,243,451 (GRCm39) |
N1254K |
probably damaging |
Het |
Nap1l5 |
T |
A |
6: 58,883,952 (GRCm39) |
M1L |
probably benign |
Het |
Nfxl1 |
G |
A |
5: 72,716,641 (GRCm39) |
|
probably benign |
Het |
Nmd3 |
T |
C |
3: 69,643,349 (GRCm39) |
I227T |
probably benign |
Het |
Or8c10 |
T |
G |
9: 38,279,162 (GRCm39) |
C97G |
probably damaging |
Het |
Pramel39-ps |
G |
T |
5: 94,451,001 (GRCm39) |
P375H |
probably damaging |
Het |
Ptchd3 |
G |
A |
11: 121,732,356 (GRCm39) |
M415I |
possibly damaging |
Het |
Rab28 |
A |
T |
5: 41,793,182 (GRCm39) |
S154R |
possibly damaging |
Het |
Rin1 |
A |
G |
19: 5,103,735 (GRCm39) |
E567G |
probably damaging |
Het |
Rrbp1 |
A |
C |
2: 143,811,436 (GRCm39) |
V806G |
probably benign |
Het |
Sec63 |
T |
A |
10: 42,679,901 (GRCm39) |
L326Q |
probably damaging |
Het |
Serinc2 |
T |
C |
4: 130,149,315 (GRCm39) |
T296A |
probably damaging |
Het |
Skint10 |
G |
A |
4: 112,572,981 (GRCm39) |
L272F |
probably damaging |
Het |
Slc4a11 |
C |
T |
2: 130,533,664 (GRCm39) |
A100T |
probably damaging |
Het |
Stag1 |
A |
G |
9: 100,811,967 (GRCm39) |
Q815R |
probably benign |
Het |
Stat3 |
A |
G |
11: 100,780,357 (GRCm39) |
M735T |
possibly damaging |
Het |
Stat3 |
A |
G |
11: 100,784,738 (GRCm39) |
I576T |
probably benign |
Het |
Styxl2 |
T |
C |
1: 165,927,755 (GRCm39) |
Q619R |
probably damaging |
Het |
Syne1 |
T |
C |
10: 5,155,071 (GRCm39) |
K5623E |
probably benign |
Het |
Tas1r2 |
T |
C |
4: 139,387,036 (GRCm39) |
V165A |
possibly damaging |
Het |
Tcaf3 |
A |
T |
6: 42,573,716 (GRCm39) |
D165E |
probably benign |
Het |
Utrn |
T |
C |
10: 12,564,125 (GRCm39) |
E1245G |
probably damaging |
Het |
|
Other mutations in Tex2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00090:Tex2
|
APN |
11 |
106,459,361 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01380:Tex2
|
APN |
11 |
106,435,141 (GRCm39) |
nonsense |
probably null |
|
IGL02607:Tex2
|
APN |
11 |
106,437,573 (GRCm39) |
missense |
unknown |
|
IGL02680:Tex2
|
APN |
11 |
106,459,058 (GRCm39) |
unclassified |
probably benign |
|
IGL02699:Tex2
|
APN |
11 |
106,459,259 (GRCm39) |
missense |
possibly damaging |
0.53 |
IGL03187:Tex2
|
APN |
11 |
106,458,903 (GRCm39) |
unclassified |
probably benign |
|
IGL03398:Tex2
|
APN |
11 |
106,459,098 (GRCm39) |
missense |
probably damaging |
1.00 |
R0242:Tex2
|
UTSW |
11 |
106,410,781 (GRCm39) |
nonsense |
probably null |
|
R0242:Tex2
|
UTSW |
11 |
106,410,781 (GRCm39) |
nonsense |
probably null |
|
R1085:Tex2
|
UTSW |
11 |
106,459,313 (GRCm39) |
missense |
probably damaging |
0.98 |
R1491:Tex2
|
UTSW |
11 |
106,394,466 (GRCm39) |
missense |
possibly damaging |
0.72 |
R1664:Tex2
|
UTSW |
11 |
106,458,608 (GRCm39) |
unclassified |
probably benign |
|
R1794:Tex2
|
UTSW |
11 |
106,458,728 (GRCm39) |
unclassified |
probably benign |
|
R1855:Tex2
|
UTSW |
11 |
106,437,702 (GRCm39) |
missense |
possibly damaging |
0.87 |
R2077:Tex2
|
UTSW |
11 |
106,397,690 (GRCm39) |
splice site |
probably null |
|
R2151:Tex2
|
UTSW |
11 |
106,458,161 (GRCm39) |
unclassified |
probably benign |
|
R2175:Tex2
|
UTSW |
11 |
106,394,513 (GRCm39) |
missense |
unknown |
|
R2984:Tex2
|
UTSW |
11 |
106,437,489 (GRCm39) |
critical splice donor site |
probably null |
|
R3156:Tex2
|
UTSW |
11 |
106,424,695 (GRCm39) |
critical splice donor site |
probably null |
|
R3722:Tex2
|
UTSW |
11 |
106,437,566 (GRCm39) |
nonsense |
probably null |
|
R3724:Tex2
|
UTSW |
11 |
106,420,156 (GRCm39) |
missense |
unknown |
|
R3770:Tex2
|
UTSW |
11 |
106,435,078 (GRCm39) |
missense |
unknown |
|
R3771:Tex2
|
UTSW |
11 |
106,437,720 (GRCm39) |
missense |
unknown |
|
R3813:Tex2
|
UTSW |
11 |
106,402,770 (GRCm39) |
missense |
unknown |
|
R3947:Tex2
|
UTSW |
11 |
106,410,829 (GRCm39) |
missense |
unknown |
|
R4206:Tex2
|
UTSW |
11 |
106,458,398 (GRCm39) |
unclassified |
probably benign |
|
R4342:Tex2
|
UTSW |
11 |
106,457,832 (GRCm39) |
unclassified |
probably benign |
|
R4554:Tex2
|
UTSW |
11 |
106,435,212 (GRCm39) |
missense |
unknown |
|
R4896:Tex2
|
UTSW |
11 |
106,459,230 (GRCm39) |
missense |
probably damaging |
1.00 |
R5207:Tex2
|
UTSW |
11 |
106,437,666 (GRCm39) |
missense |
unknown |
|
R5249:Tex2
|
UTSW |
11 |
106,437,615 (GRCm39) |
missense |
unknown |
|
R5257:Tex2
|
UTSW |
11 |
106,458,585 (GRCm39) |
unclassified |
probably benign |
|
R5258:Tex2
|
UTSW |
11 |
106,458,585 (GRCm39) |
unclassified |
probably benign |
|
R5278:Tex2
|
UTSW |
11 |
106,458,639 (GRCm39) |
missense |
probably benign |
0.34 |
R5702:Tex2
|
UTSW |
11 |
106,435,221 (GRCm39) |
missense |
possibly damaging |
0.58 |
R5835:Tex2
|
UTSW |
11 |
106,410,739 (GRCm39) |
missense |
unknown |
|
R6150:Tex2
|
UTSW |
11 |
106,457,906 (GRCm39) |
missense |
probably benign |
0.34 |
R6785:Tex2
|
UTSW |
11 |
106,424,776 (GRCm39) |
missense |
probably damaging |
1.00 |
R6879:Tex2
|
UTSW |
11 |
106,424,836 (GRCm39) |
missense |
unknown |
|
R7038:Tex2
|
UTSW |
11 |
106,402,726 (GRCm39) |
critical splice donor site |
probably null |
|
R7117:Tex2
|
UTSW |
11 |
106,435,071 (GRCm39) |
missense |
unknown |
|
R7336:Tex2
|
UTSW |
11 |
106,439,685 (GRCm39) |
missense |
unknown |
|
R7568:Tex2
|
UTSW |
11 |
106,439,562 (GRCm39) |
missense |
unknown |
|
R7622:Tex2
|
UTSW |
11 |
106,437,721 (GRCm39) |
missense |
unknown |
|
R8228:Tex2
|
UTSW |
11 |
106,457,997 (GRCm39) |
missense |
probably benign |
0.34 |
R8407:Tex2
|
UTSW |
11 |
106,459,221 (GRCm39) |
missense |
probably damaging |
1.00 |
R8807:Tex2
|
UTSW |
11 |
106,458,414 (GRCm39) |
missense |
unknown |
|
R8807:Tex2
|
UTSW |
11 |
106,435,194 (GRCm39) |
missense |
unknown |
|
R8882:Tex2
|
UTSW |
11 |
106,435,062 (GRCm39) |
missense |
unknown |
|
R8926:Tex2
|
UTSW |
11 |
106,459,230 (GRCm39) |
missense |
|
|
R8936:Tex2
|
UTSW |
11 |
106,458,144 (GRCm39) |
nonsense |
probably null |
|
R8988:Tex2
|
UTSW |
11 |
106,402,731 (GRCm39) |
missense |
unknown |
|
R9165:Tex2
|
UTSW |
11 |
106,458,095 (GRCm39) |
missense |
unknown |
|
R9294:Tex2
|
UTSW |
11 |
106,459,361 (GRCm39) |
missense |
probably damaging |
1.00 |
R9314:Tex2
|
UTSW |
11 |
106,435,075 (GRCm39) |
missense |
unknown |
|
R9405:Tex2
|
UTSW |
11 |
106,435,214 (GRCm39) |
missense |
unknown |
|
R9477:Tex2
|
UTSW |
11 |
106,410,706 (GRCm39) |
critical splice donor site |
probably null |
|
R9626:Tex2
|
UTSW |
11 |
106,437,579 (GRCm39) |
missense |
unknown |
|
R9634:Tex2
|
UTSW |
11 |
106,458,978 (GRCm39) |
missense |
unknown |
|
T0970:Tex2
|
UTSW |
11 |
106,437,772 (GRCm39) |
missense |
unknown |
|
Z1177:Tex2
|
UTSW |
11 |
106,424,834 (GRCm39) |
missense |
unknown |
|
|
Predicted Primers |
PCR Primer
(F):5'- AGCTGTTTGAGTTCCTGGAC -3'
(R):5'- CGCTCGGCTTCTTTATAATGTG -3'
Sequencing Primer
(F):5'- GTGGCTCACAACCATCTGTAATGG -3'
(R):5'- ATAATGTGTGTCTACGCGTACC -3'
|
Posted On |
2022-05-16 |