Incidental Mutation 'R6150:Tex2'
ID |
489207 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tex2
|
Ensembl Gene |
ENSMUSG00000040548 |
Gene Name |
testis expressed gene 2 |
Synonyms |
4930568E07Rik, Taz4, Def-5 |
MMRRC Submission |
044297-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6150 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
106392973-106504249 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 106457906 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Aspartic acid
at position 508
(V508D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099359
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042780]
[ENSMUST00000103070]
[ENSMUST00000128933]
[ENSMUST00000153870]
|
AlphaFold |
Q6ZPJ0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000042780
AA Change: V508D
PolyPhen 2
Score 0.335 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000041985 Gene: ENSMUSG00000040548 AA Change: V508D
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 benign
Transcript: ENSMUST00000103070
AA Change: V508D
PolyPhen 2
Score 0.335 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000099359 Gene: ENSMUSG00000040548 AA Change: V508D
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 |
unknown
Transcript: ENSMUST00000207249
AA Change: V10D
|
Meta Mutation Damage Score |
0.3415 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.9%
|
Validation Efficiency |
97% (56/58) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aldh3a1 |
A |
G |
11: 61,104,334 (GRCm39) |
T74A |
probably benign |
Het |
Arhgef1 |
T |
C |
7: 24,618,782 (GRCm39) |
|
probably null |
Het |
Art1 |
C |
G |
7: 101,756,294 (GRCm39) |
R162G |
probably benign |
Het |
Boll |
T |
A |
1: 55,309,812 (GRCm39) |
I280F |
possibly damaging |
Het |
Cep44 |
T |
C |
8: 56,992,840 (GRCm39) |
E258G |
probably benign |
Het |
Cutc |
T |
A |
19: 43,748,328 (GRCm39) |
V75E |
probably damaging |
Het |
Dtx1 |
T |
C |
5: 120,819,428 (GRCm39) |
K590R |
probably damaging |
Het |
Eps8 |
A |
T |
6: 137,494,172 (GRCm39) |
D295E |
probably damaging |
Het |
Erc2 |
C |
A |
14: 27,863,248 (GRCm39) |
S491Y |
probably damaging |
Het |
F2rl3 |
G |
T |
8: 73,489,366 (GRCm39) |
A198S |
probably benign |
Het |
Fam83b |
G |
A |
9: 76,399,639 (GRCm39) |
T488M |
probably damaging |
Het |
Fitm2 |
A |
G |
2: 163,311,994 (GRCm39) |
L73P |
probably damaging |
Het |
Fxyd1 |
T |
C |
7: 30,754,228 (GRCm39) |
|
probably null |
Het |
Gm17186 |
T |
C |
14: 51,918,183 (GRCm39) |
|
noncoding transcript |
Het |
Hivep3 |
C |
A |
4: 119,591,274 (GRCm39) |
S94* |
probably null |
Het |
Ifna1 |
T |
A |
4: 88,768,349 (GRCm39) |
M9K |
probably null |
Het |
Igsf11 |
G |
A |
16: 38,843,711 (GRCm39) |
E275K |
probably damaging |
Het |
Itga1 |
G |
A |
13: 115,104,769 (GRCm39) |
L1086F |
probably benign |
Het |
Itgav |
T |
C |
2: 83,606,780 (GRCm39) |
S374P |
probably benign |
Het |
Jmy |
A |
T |
13: 93,577,641 (GRCm39) |
N842K |
probably benign |
Het |
Kcnh6 |
G |
A |
11: 105,911,557 (GRCm39) |
V595M |
possibly damaging |
Het |
Kif13b |
T |
A |
14: 64,989,088 (GRCm39) |
I823N |
probably damaging |
Het |
Kif26b |
T |
C |
1: 178,743,111 (GRCm39) |
L1069P |
probably damaging |
Het |
Kl |
T |
A |
5: 150,912,318 (GRCm39) |
M689K |
possibly damaging |
Het |
Kmt2b |
G |
T |
7: 30,287,902 (GRCm39) |
|
probably benign |
Het |
Map10 |
G |
A |
8: 126,398,328 (GRCm39) |
D574N |
probably damaging |
Het |
Mau2 |
A |
T |
8: 70,472,487 (GRCm39) |
H565Q |
probably benign |
Het |
Myb |
A |
G |
10: 21,017,668 (GRCm39) |
I641T |
probably damaging |
Het |
Naaladl2 |
C |
A |
3: 24,606,214 (GRCm39) |
G15V |
probably null |
Het |
Or10k2 |
G |
A |
8: 84,267,782 (GRCm39) |
C3Y |
probably benign |
Het |
Or3a4 |
A |
C |
11: 73,945,145 (GRCm39) |
S147A |
probably benign |
Het |
Or6c210 |
A |
G |
10: 129,495,803 (GRCm39) |
I43V |
probably benign |
Het |
Or7d11 |
A |
T |
9: 19,966,170 (GRCm39) |
N78K |
probably benign |
Het |
Otog |
A |
G |
7: 45,913,483 (GRCm39) |
E772G |
possibly damaging |
Het |
Pla2g4d |
T |
C |
2: 120,100,045 (GRCm39) |
D674G |
probably damaging |
Het |
Pmpcb |
A |
G |
5: 21,942,137 (GRCm39) |
|
probably null |
Het |
Pomk |
A |
G |
8: 26,473,284 (GRCm39) |
V223A |
possibly damaging |
Het |
Prpf40a |
T |
C |
2: 53,047,927 (GRCm39) |
M197V |
probably benign |
Het |
Serpina1e |
A |
G |
12: 103,917,066 (GRCm39) |
V201A |
probably benign |
Het |
Six5 |
C |
T |
7: 18,831,446 (GRCm39) |
P646S |
probably benign |
Het |
Slc17a9 |
A |
G |
2: 180,379,421 (GRCm39) |
I298V |
probably benign |
Het |
Slc37a2 |
G |
T |
9: 37,149,643 (GRCm39) |
T188K |
probably damaging |
Het |
Slc6a11 |
T |
A |
6: 114,222,579 (GRCm39) |
F525I |
probably benign |
Het |
Slit2 |
A |
T |
5: 48,461,516 (GRCm39) |
D1504V |
probably damaging |
Het |
Srcap |
T |
A |
7: 127,134,000 (GRCm39) |
M907K |
probably damaging |
Het |
Sspo |
T |
C |
6: 48,463,313 (GRCm39) |
L3746P |
probably benign |
Het |
Supv3l1 |
A |
T |
10: 62,271,501 (GRCm39) |
N376K |
possibly damaging |
Het |
Tekt3 |
A |
T |
11: 62,985,483 (GRCm39) |
T430S |
possibly damaging |
Het |
Tmem184c |
G |
T |
8: 78,323,069 (GRCm39) |
Q598K |
probably benign |
Het |
Ube2v1 |
G |
A |
2: 167,459,874 (GRCm39) |
R42* |
probably null |
Het |
Usp45 |
A |
C |
4: 21,810,797 (GRCm39) |
D331A |
probably damaging |
Het |
Vangl1 |
T |
C |
3: 102,091,835 (GRCm39) |
T84A |
probably damaging |
Het |
Vgll3 |
T |
A |
16: 65,625,064 (GRCm39) |
|
probably null |
Het |
Vmn1r61 |
T |
A |
7: 5,613,678 (GRCm39) |
H212L |
probably benign |
Het |
Vmn2r114 |
A |
G |
17: 23,510,269 (GRCm39) |
V737A |
probably benign |
Het |
Vmn2r35 |
A |
T |
7: 7,789,555 (GRCm39) |
D727E |
probably damaging |
Het |
Vps18 |
T |
A |
2: 119,128,073 (GRCm39) |
Y965* |
probably null |
Het |
Zfp521 |
A |
T |
18: 13,977,135 (GRCm39) |
C1093S |
probably damaging |
Het |
Zfp971 |
A |
C |
2: 177,675,247 (GRCm39) |
H282P |
probably benign |
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 |
|
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 |
|
R9419:Tex2
|
UTSW |
11 |
106,457,835 (GRCm39) |
nonsense |
probably null |
|
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'- CCCGATTCGAACACCTTCAG -3'
(R):5'- TGATAAGACCCTCGATCTCCCC -3'
Sequencing Primer
(F):5'- GATTCGAACACCTTCAGCCATCAG -3'
(R):5'- TCAAGCCAGAGGTGCTTG -3'
|
Posted On |
2017-10-10 |