Incidental Mutation 'R8926:Tex2'
| ID |
679561 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tex2
|
| Ensembl Gene |
ENSMUSG00000040548 |
| Gene Name |
testis expressed gene 2 |
| Synonyms |
4930568E07Rik, Taz4, Def-5 |
| MMRRC Submission |
068770-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8926 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
106392973-106504249 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 106459230 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Proline
at position 67
(T67P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041985
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042780]
[ENSMUST00000103070]
[ENSMUST00000128933]
[ENSMUST00000153870]
|
| AlphaFold |
Q6ZPJ0 |
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000041985
Gene: ENSMUSG00000040548
AA Change: T67P
| 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 damaging
Transcript: ENSMUST00000103070
AA Change: T67P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099359
Gene: ENSMUSG00000040548
AA Change: T67P
| 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 damaging
Transcript: ENSMUST00000128933
AA Change: T67P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000120781
Gene: ENSMUSG00000040548
AA Change: T67P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
119 |
168 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153870
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207249
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.9%
- 20x: 99.6%
|
| Validation Efficiency |
100% (69/69) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf3 |
T |
A |
5: 30,405,446 (GRCm39) |
D296V |
possibly damaging |
Het |
| Ahi1 |
T |
C |
10: 20,930,982 (GRCm39) |
Y941H |
probably damaging |
Het |
| Bscl2 |
T |
C |
19: 8,825,348 (GRCm39) |
|
probably null |
Het |
| C1s1 |
C |
T |
6: 124,510,325 (GRCm39) |
G374D |
probably damaging |
Het |
| C1s1 |
T |
C |
6: 124,513,322 (GRCm39) |
D235G |
possibly damaging |
Het |
| Cacna1e |
C |
T |
1: 154,577,080 (GRCm39) |
V106I |
possibly damaging |
Het |
| Ccdc97 |
G |
A |
7: 25,412,494 (GRCm39) |
A316V |
probably benign |
Het |
| Ces1a |
A |
G |
8: 93,751,841 (GRCm39) |
V431A |
probably benign |
Het |
| Cftr |
C |
T |
6: 18,268,003 (GRCm39) |
S684L |
possibly damaging |
Het |
| Cgnl1 |
T |
A |
9: 71,632,535 (GRCm39) |
N272I |
probably benign |
Het |
| Csf2rb |
C |
T |
15: 78,224,749 (GRCm39) |
S169L |
probably benign |
Het |
| Cux1 |
T |
A |
5: 136,338,404 (GRCm39) |
|
probably benign |
Het |
| Cyp11b1 |
T |
A |
15: 74,711,087 (GRCm39) |
Y197F |
probably benign |
Het |
| Cyp1a2 |
T |
C |
9: 57,588,361 (GRCm39) |
K288E |
probably benign |
Het |
| Dapk1 |
T |
A |
13: 60,908,734 (GRCm39) |
W1116R |
probably damaging |
Het |
| Dclre1c |
A |
T |
2: 3,434,827 (GRCm39) |
D97V |
probably damaging |
Het |
| Efcc1 |
A |
G |
6: 87,726,169 (GRCm39) |
R323G |
probably benign |
Het |
| Epha6 |
T |
A |
16: 59,659,662 (GRCm39) |
I819F |
probably benign |
Het |
| Fam118b |
A |
T |
9: 35,146,732 (GRCm39) |
L45Q |
probably damaging |
Het |
| Fcgbpl1 |
G |
A |
7: 27,853,869 (GRCm39) |
C1611Y |
probably damaging |
Het |
| Fsd1l |
T |
G |
4: 53,686,493 (GRCm39) |
I302S |
probably benign |
Het |
| Fsip2 |
T |
A |
2: 82,823,927 (GRCm39) |
D6553E |
possibly damaging |
Het |
| Gje1 |
C |
T |
10: 14,592,435 (GRCm39) |
V116I |
probably benign |
Het |
| H2-T9 |
T |
A |
17: 36,420,626 (GRCm39) |
|
probably null |
Het |
| Helz |
C |
A |
11: 107,563,509 (GRCm39) |
H1650N |
unknown |
Het |
| Hltf |
T |
G |
3: 20,123,323 (GRCm39) |
|
probably null |
Het |
| Intu |
T |
A |
3: 40,608,139 (GRCm39) |
D50E |
possibly damaging |
Het |
| Ipo9 |
C |
T |
1: 135,313,952 (GRCm39) |
|
probably benign |
Het |
| Lama5 |
G |
A |
2: 179,835,783 (GRCm39) |
T1217I |
probably benign |
Het |
| Lct |
T |
A |
1: 128,228,148 (GRCm39) |
Y1115F |
probably damaging |
Het |
| Lpgat1 |
T |
C |
1: 191,492,120 (GRCm39) |
L202P |
probably damaging |
Het |
| Lrp1 |
C |
T |
10: 127,381,671 (GRCm39) |
R3801H |
probably benign |
Het |
| Mtfmt |
T |
A |
9: 65,344,414 (GRCm39) |
Y113* |
probably null |
Het |
| Myh7 |
A |
G |
14: 55,222,533 (GRCm39) |
F801L |
probably benign |
Het |
| Myl4 |
G |
T |
11: 104,476,572 (GRCm39) |
M191I |
probably benign |
Het |
| Myo3a |
C |
A |
2: 22,401,074 (GRCm39) |
N614K |
possibly damaging |
Het |
| Naa30 |
A |
G |
14: 49,425,059 (GRCm39) |
N337S |
probably benign |
Het |
| Nol10 |
C |
A |
12: 17,466,871 (GRCm39) |
Q584K |
probably benign |
Het |
| Nup210 |
C |
A |
6: 91,030,434 (GRCm39) |
G919C |
probably damaging |
Het |
| Or13a20 |
G |
A |
7: 140,232,113 (GRCm39) |
V74M |
probably benign |
Het |
| Or5p57 |
G |
A |
7: 107,665,513 (GRCm39) |
T134I |
probably benign |
Het |
| Pdcd6ip |
T |
A |
9: 113,514,493 (GRCm39) |
Q244L |
probably benign |
Het |
| Pde4d |
T |
C |
13: 110,074,625 (GRCm39) |
V410A |
probably benign |
Het |
| Plekha7 |
A |
T |
7: 115,756,223 (GRCm39) |
|
probably benign |
Het |
| Plpp4 |
A |
T |
7: 128,923,211 (GRCm39) |
|
probably null |
Het |
| Poln |
T |
C |
5: 34,286,769 (GRCm39) |
N133S |
probably benign |
Het |
| Ppfibp1 |
A |
G |
6: 146,920,986 (GRCm39) |
N575D |
probably damaging |
Het |
| Prex2 |
T |
A |
1: 11,159,930 (GRCm39) |
|
probably null |
Het |
| Prkar2b |
A |
G |
12: 32,111,080 (GRCm39) |
M1T |
probably null |
Het |
| Ptcd3 |
A |
G |
6: 71,869,464 (GRCm39) |
F378S |
probably damaging |
Het |
| Rab27b |
C |
A |
18: 70,129,144 (GRCm39) |
R50L |
probably damaging |
Het |
| Rpl7a |
T |
G |
2: 26,801,557 (GRCm39) |
F83C |
probably damaging |
Het |
| Slc8a2 |
A |
G |
7: 15,868,194 (GRCm39) |
E142G |
probably damaging |
Het |
| Slc9a4 |
A |
T |
1: 40,619,928 (GRCm39) |
I85L |
possibly damaging |
Het |
| Sorcs1 |
C |
A |
19: 50,241,096 (GRCm39) |
W430L |
possibly damaging |
Het |
| Spaca6 |
T |
A |
17: 18,058,790 (GRCm39) |
|
probably null |
Het |
| Synrg |
C |
A |
11: 83,881,567 (GRCm39) |
A301E |
possibly damaging |
Het |
| Tcl1 |
G |
A |
12: 105,184,969 (GRCm39) |
|
probably benign |
Het |
| Tecpr1 |
C |
T |
5: 144,153,780 (GRCm39) |
V158M |
probably damaging |
Het |
| Tlr9 |
A |
T |
9: 106,103,213 (GRCm39) |
I835L |
probably benign |
Het |
| Tmem185b |
G |
C |
1: 119,454,406 (GRCm39) |
V56L |
probably benign |
Het |
| Tssk2 |
C |
T |
16: 17,717,562 (GRCm39) |
R322W |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,571,735 (GRCm39) |
Y26386F |
probably benign |
Het |
| Txndc16 |
C |
A |
14: 45,406,771 (GRCm39) |
R228I |
possibly damaging |
Het |
| Uspl1 |
T |
G |
5: 149,138,701 (GRCm39) |
|
probably null |
Het |
| Vmn1r113 |
A |
T |
7: 20,521,874 (GRCm39) |
H222L |
possibly damaging |
Het |
| Vnn1 |
T |
G |
10: 23,776,587 (GRCm39) |
S313A |
probably benign |
Het |
| Zc3hc1 |
A |
T |
6: 30,374,887 (GRCm39) |
L218Q |
possibly damaging |
Het |
| Znrf1 |
T |
G |
8: 112,264,143 (GRCm39) |
L124R |
probably damaging |
Het |
| Zzz3 |
A |
T |
3: 152,133,529 (GRCm39) |
N196Y |
possibly 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 |
|
|
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'- CCAATGGCACTGGACTTAATACC -3'
(R):5'- CCGGCAATGACAAGTCTGAATG -3'
Sequencing Primer
(F):5'- GCACTGGACTTAATACCTGCAGTG -3'
(R):5'- CAAGTCTGAATGGTCGCCATG -3'
|
| Posted On |
2021-08-02 |
Incidental Mutation