Incidental Mutation 'R1794:Tex2'
ID |
202067 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tex2
|
Ensembl Gene |
ENSMUSG00000040548 |
Gene Name |
testis expressed gene 2 |
Synonyms |
4930568E07Rik, Taz4, Def-5 |
MMRRC Submission |
039824-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1794 (G1)
|
Quality Score |
222 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
106392973-106504249 bp(-) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
T to C
at 106458728 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042780]
[ENSMUST00000103070]
[ENSMUST00000128933]
[ENSMUST00000153870]
|
AlphaFold |
Q6ZPJ0 |
Predicted Effect |
unknown
Transcript: ENSMUST00000042780
AA Change: Y234C
|
SMART Domains |
Protein: ENSMUSP00000041985 Gene: ENSMUSG00000040548 AA Change: Y234C
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 |
unknown
Transcript: ENSMUST00000103070
AA Change: Y234C
|
SMART Domains |
Protein: ENSMUSP00000099359 Gene: ENSMUSG00000040548 AA Change: Y234C
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 benign
Transcript: ENSMUST00000207249
|
Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.7%
- 10x: 94.8%
- 20x: 91.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Anxa7 |
A |
G |
14: 20,521,535 (GRCm39) |
Y54H |
unknown |
Het |
Arhgef3 |
A |
G |
14: 27,119,562 (GRCm39) |
T331A |
probably benign |
Het |
Arhgef40 |
G |
T |
14: 52,227,387 (GRCm39) |
C477F |
possibly damaging |
Het |
Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
Atp13a5 |
C |
A |
16: 29,140,527 (GRCm39) |
R343L |
probably damaging |
Het |
Brdt |
ACAGCAGCAGCAGCAGC |
ACAGCAGCAGCAGC |
5: 107,507,719 (GRCm39) |
|
probably benign |
Het |
Btbd2 |
G |
T |
10: 80,479,747 (GRCm39) |
D426E |
probably damaging |
Het |
Cabin1 |
A |
C |
10: 75,561,579 (GRCm39) |
I974R |
possibly damaging |
Het |
Cacna1i |
G |
A |
15: 80,273,323 (GRCm39) |
V1670M |
probably damaging |
Het |
Cc2d2a |
C |
A |
5: 43,845,594 (GRCm39) |
Q288K |
probably damaging |
Het |
Ccl20 |
T |
A |
1: 83,095,550 (GRCm39) |
I37K |
possibly damaging |
Het |
Cdcp1 |
A |
G |
9: 123,019,159 (GRCm39) |
V40A |
probably benign |
Het |
Cdcp1 |
T |
C |
9: 123,044,896 (GRCm39) |
T27A |
probably benign |
Het |
Cdh4 |
C |
T |
2: 179,528,635 (GRCm39) |
T581I |
probably damaging |
Het |
Cgn |
A |
G |
3: 94,669,864 (GRCm39) |
|
probably null |
Het |
Col7a1 |
G |
A |
9: 108,794,996 (GRCm39) |
G1493D |
unknown |
Het |
Creb3 |
A |
G |
4: 43,563,302 (GRCm39) |
E133G |
probably benign |
Het |
Dchs1 |
T |
C |
7: 105,420,927 (GRCm39) |
T498A |
probably benign |
Het |
Dis3l |
A |
C |
9: 64,225,058 (GRCm39) |
V413G |
possibly damaging |
Het |
Dnah6 |
T |
C |
6: 73,001,941 (GRCm39) |
E3865G |
probably damaging |
Het |
Fam219b |
A |
G |
9: 57,446,564 (GRCm39) |
Y139C |
probably damaging |
Het |
Fat3 |
A |
T |
9: 15,908,432 (GRCm39) |
Y2523* |
probably null |
Het |
Fat3 |
A |
T |
9: 15,908,434 (GRCm39) |
Y2523N |
probably benign |
Het |
Fmnl1 |
T |
C |
11: 103,087,973 (GRCm39) |
S40P |
probably benign |
Het |
Gm4792 |
T |
C |
10: 94,134,352 (GRCm39) |
D6G |
unknown |
Het |
Hhat |
G |
T |
1: 192,376,214 (GRCm39) |
Y306* |
probably null |
Het |
Hmcn1 |
A |
G |
1: 150,474,036 (GRCm39) |
I4802T |
probably benign |
Het |
Hmcn1 |
G |
A |
1: 150,502,903 (GRCm39) |
T3908I |
probably damaging |
Het |
Hsph1 |
A |
T |
5: 149,554,238 (GRCm39) |
N79K |
probably damaging |
Het |
Ikbke |
T |
A |
1: 131,186,955 (GRCm39) |
Y579F |
probably damaging |
Het |
Jak2 |
A |
G |
19: 29,276,957 (GRCm39) |
D838G |
probably benign |
Het |
Klhdc7b |
T |
C |
15: 89,271,223 (GRCm39) |
S702P |
probably benign |
Het |
Lingo3 |
C |
A |
10: 80,671,432 (GRCm39) |
R166L |
probably benign |
Het |
Lins1 |
T |
C |
7: 66,361,657 (GRCm39) |
F436S |
probably damaging |
Het |
Lman1 |
T |
C |
18: 66,124,755 (GRCm39) |
D328G |
probably benign |
Het |
Lox |
A |
G |
18: 52,661,379 (GRCm39) |
C232R |
probably damaging |
Het |
Lrrc59 |
T |
C |
11: 94,529,421 (GRCm39) |
V165A |
probably benign |
Het |
Map9 |
A |
G |
3: 82,287,528 (GRCm39) |
D50G |
probably damaging |
Het |
Marchf1 |
T |
A |
8: 66,839,594 (GRCm39) |
Y126N |
possibly damaging |
Het |
Mcf2l |
T |
C |
8: 12,965,982 (GRCm39) |
F3L |
probably benign |
Het |
Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
Nin |
G |
A |
12: 70,090,569 (GRCm39) |
Q949* |
probably null |
Het |
Nlgn3 |
A |
G |
X: 100,363,639 (GRCm39) |
H636R |
probably benign |
Het |
Notch2 |
A |
G |
3: 98,006,863 (GRCm39) |
D411G |
possibly damaging |
Het |
Or4c52 |
A |
G |
2: 89,845,364 (GRCm39) |
Y30C |
probably damaging |
Het |
Or5b24 |
G |
C |
19: 12,912,332 (GRCm39) |
A77P |
probably damaging |
Het |
Pate7 |
T |
A |
9: 35,688,418 (GRCm39) |
I56F |
probably benign |
Het |
Plekha7 |
A |
G |
7: 115,739,916 (GRCm39) |
V579A |
probably damaging |
Het |
Prrc2c |
T |
C |
1: 162,533,528 (GRCm39) |
|
probably benign |
Het |
Rab7b |
T |
C |
1: 131,624,806 (GRCm39) |
|
probably null |
Het |
Reg3b |
G |
T |
6: 78,349,197 (GRCm39) |
|
probably null |
Het |
Rgs20 |
A |
G |
1: 4,980,795 (GRCm39) |
Y177H |
probably damaging |
Het |
Ripk3 |
G |
T |
14: 56,022,786 (GRCm39) |
N379K |
probably benign |
Het |
Rnf220 |
G |
T |
4: 117,164,765 (GRCm39) |
Q7K |
probably benign |
Het |
Ros1 |
T |
A |
10: 52,000,199 (GRCm39) |
K1109* |
probably null |
Het |
Slc22a7 |
T |
G |
17: 46,744,079 (GRCm39) |
R460S |
probably damaging |
Het |
Slc4a2 |
A |
G |
5: 24,644,326 (GRCm39) |
M975V |
probably damaging |
Het |
Slc4a3 |
A |
T |
1: 75,533,952 (GRCm39) |
I1100F |
probably damaging |
Het |
Smco1 |
A |
G |
16: 32,092,950 (GRCm39) |
E207G |
probably benign |
Het |
Snrnp200 |
A |
G |
2: 127,058,656 (GRCm39) |
E369G |
probably benign |
Het |
Spata31d1e |
T |
C |
13: 59,890,434 (GRCm39) |
E44G |
probably benign |
Het |
Tcf4 |
T |
A |
18: 69,790,924 (GRCm39) |
M178K |
probably benign |
Het |
Tjp1 |
A |
T |
7: 64,972,877 (GRCm39) |
I521N |
probably damaging |
Het |
Tmem203 |
A |
G |
2: 25,146,006 (GRCm39) |
T109A |
probably benign |
Het |
Tmem50b |
T |
C |
16: 91,374,917 (GRCm39) |
I126V |
probably benign |
Het |
Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
Ush2a |
T |
C |
1: 188,595,006 (GRCm39) |
F3813L |
probably benign |
Het |
Vmn1r203 |
C |
T |
13: 22,708,521 (GRCm39) |
R101W |
probably damaging |
Het |
Vmn2r79 |
G |
A |
7: 86,650,621 (GRCm39) |
V136I |
probably benign |
Het |
Wdr38 |
A |
G |
2: 38,890,741 (GRCm39) |
Y205C |
probably damaging |
Het |
Zfp248 |
A |
G |
6: 118,406,264 (GRCm39) |
F442L |
probably damaging |
Het |
Znrf4 |
A |
G |
17: 56,818,599 (GRCm39) |
I236T |
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 |
|
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 |
|
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'- AGGCGTCGCTTAGTGTCTTC -3'
(R):5'- AGAAAACCAGTTCTTCGTCTCC -3'
Sequencing Primer
(F):5'- CGATTTTTGCCTCCATTTCGGG -3'
(R):5'- AAACCAGTTCTTCGTCTCCACTGTC -3'
|
Posted On |
2014-06-23 |