Incidental Mutation 'R1855:Tex2'
ID |
206048 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tex2
|
Ensembl Gene |
ENSMUSG00000040548 |
Gene Name |
testis expressed gene 2 |
Synonyms |
4930568E07Rik, Taz4, Def-5 |
MMRRC Submission |
039879-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1855 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
106392973-106504249 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 106437702 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 158
(E158G)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042780]
[ENSMUST00000103070]
|
AlphaFold |
Q6ZPJ0 |
Predicted Effect |
unknown
Transcript: ENSMUST00000042780
AA Change: E656G
|
SMART Domains |
Protein: ENSMUSP00000041985 Gene: ENSMUSG00000040548 AA Change: E656G
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: E656G
|
SMART Domains |
Protein: ENSMUSP00000099359 Gene: ENSMUSG00000040548 AA Change: E656G
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 |
possibly damaging
Transcript: ENSMUST00000207249
AA Change: E158G
PolyPhen 2
Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)
|
Meta Mutation Damage Score |
0.1013 |
Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.9%
- 10x: 95.3%
- 20x: 92.4%
|
Validation Efficiency |
97% (72/74) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A830018L16Rik |
T |
A |
1: 11,818,195 (GRCm39) |
L285Q |
probably damaging |
Het |
Acaca |
T |
C |
11: 84,262,380 (GRCm39) |
L1994P |
probably damaging |
Het |
Adamts9 |
A |
G |
6: 92,878,350 (GRCm39) |
|
probably benign |
Het |
Aff3 |
T |
C |
1: 38,249,385 (GRCm39) |
E574G |
probably benign |
Het |
Ankrd1 |
T |
C |
19: 36,096,635 (GRCm39) |
K64R |
probably damaging |
Het |
Arhgap23 |
T |
C |
11: 97,339,523 (GRCm39) |
I163T |
probably damaging |
Het |
Ascc3 |
A |
T |
10: 50,494,018 (GRCm39) |
Q151L |
probably benign |
Het |
Atad2 |
G |
A |
15: 57,960,685 (GRCm39) |
P971L |
possibly damaging |
Het |
C1s1 |
A |
C |
6: 124,511,315 (GRCm39) |
|
probably null |
Het |
Ccdc150 |
T |
C |
1: 54,407,069 (GRCm39) |
|
probably benign |
Het |
Cdhr3 |
A |
T |
12: 33,110,351 (GRCm39) |
I311N |
probably damaging |
Het |
Chad |
T |
A |
11: 94,456,303 (GRCm39) |
L127H |
probably damaging |
Het |
Clasp1 |
G |
A |
1: 118,436,624 (GRCm39) |
A303T |
probably damaging |
Het |
Clptm1 |
A |
G |
7: 19,372,134 (GRCm39) |
V234A |
probably benign |
Het |
Cnih3 |
C |
A |
1: 181,282,186 (GRCm39) |
S140* |
probably null |
Het |
Col24a1 |
G |
A |
3: 145,164,895 (GRCm39) |
G1033D |
probably damaging |
Het |
Csnk1a1 |
T |
A |
18: 61,708,498 (GRCm39) |
|
probably null |
Het |
Cttnbp2 |
T |
A |
6: 18,378,412 (GRCm39) |
I1475L |
probably benign |
Het |
Dnah5 |
T |
C |
15: 28,411,815 (GRCm39) |
V3728A |
possibly damaging |
Het |
Dock9 |
C |
A |
14: 121,877,571 (GRCm39) |
V391F |
probably damaging |
Het |
Ehmt2 |
A |
T |
17: 35,129,752 (GRCm39) |
I949F |
probably damaging |
Het |
Eif4g1 |
C |
A |
16: 20,505,911 (GRCm39) |
T1025K |
possibly damaging |
Het |
Enpp2 |
C |
T |
15: 54,709,219 (GRCm39) |
E803K |
probably damaging |
Het |
Esrrg |
A |
T |
1: 187,943,295 (GRCm39) |
M423L |
probably damaging |
Het |
Etnppl |
A |
T |
3: 130,414,371 (GRCm39) |
I89F |
probably benign |
Het |
Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
Fbln7 |
A |
G |
2: 128,735,755 (GRCm39) |
T248A |
possibly damaging |
Het |
Galnt9 |
C |
T |
5: 110,763,390 (GRCm39) |
T465M |
probably damaging |
Het |
Grcc10 |
A |
G |
6: 124,717,541 (GRCm39) |
V57A |
probably benign |
Het |
Herc1 |
T |
A |
9: 66,298,708 (GRCm39) |
M614K |
possibly damaging |
Het |
Itch |
C |
T |
2: 155,014,374 (GRCm39) |
|
probably benign |
Het |
Kdm6b |
C |
A |
11: 69,298,112 (GRCm39) |
A167S |
probably damaging |
Het |
Kidins220 |
C |
T |
12: 25,106,590 (GRCm39) |
R1348C |
probably damaging |
Het |
Kif17 |
T |
C |
4: 138,015,582 (GRCm39) |
L577P |
probably benign |
Het |
Krt25 |
A |
T |
11: 99,209,141 (GRCm39) |
L258Q |
probably damaging |
Het |
Marchf10 |
T |
C |
11: 105,281,218 (GRCm39) |
T356A |
probably benign |
Het |
Mical2 |
G |
A |
7: 111,944,489 (GRCm39) |
A940T |
probably benign |
Het |
Mrpl4 |
A |
G |
9: 20,914,667 (GRCm39) |
E81G |
possibly damaging |
Het |
Mtcl1 |
A |
G |
17: 66,686,509 (GRCm39) |
V447A |
probably benign |
Het |
Mtor |
C |
A |
4: 148,637,546 (GRCm39) |
N2502K |
probably benign |
Het |
Notch4 |
G |
A |
17: 34,799,936 (GRCm39) |
D966N |
probably benign |
Het |
Oip5 |
C |
A |
2: 119,442,271 (GRCm39) |
K214N |
probably benign |
Het |
Or8a1b |
A |
T |
9: 37,623,266 (GRCm39) |
F103Y |
possibly damaging |
Het |
Pabir2 |
T |
A |
X: 52,342,933 (GRCm39) |
Q201H |
probably benign |
Het |
Pak5 |
A |
T |
2: 135,929,429 (GRCm39) |
S585T |
probably benign |
Het |
Pard3 |
T |
A |
8: 128,174,293 (GRCm39) |
|
probably null |
Het |
Pcnx2 |
A |
T |
8: 126,534,735 (GRCm39) |
|
probably benign |
Het |
Pcsk5 |
T |
C |
19: 17,492,556 (GRCm39) |
Y939C |
possibly damaging |
Het |
Pde1a |
A |
G |
2: 79,728,408 (GRCm39) |
|
probably null |
Het |
Pde9a |
C |
T |
17: 31,674,094 (GRCm39) |
P60S |
probably damaging |
Het |
Pikfyve |
C |
A |
1: 65,297,957 (GRCm39) |
T1562K |
probably benign |
Het |
Plekhg6 |
A |
T |
6: 125,352,802 (GRCm39) |
M115K |
probably damaging |
Het |
Pogz |
C |
T |
3: 94,786,160 (GRCm39) |
T863I |
probably benign |
Het |
Ppp1r3a |
A |
T |
6: 14,754,993 (GRCm39) |
W85R |
probably damaging |
Het |
Rnf123 |
C |
A |
9: 107,938,990 (GRCm39) |
R826L |
probably damaging |
Het |
Slc1a6 |
T |
A |
10: 78,648,758 (GRCm39) |
V493E |
probably damaging |
Het |
Slc22a2 |
A |
G |
17: 12,805,699 (GRCm39) |
D150G |
probably damaging |
Het |
Snap47 |
C |
T |
11: 59,319,159 (GRCm39) |
|
probably benign |
Het |
Spata22 |
A |
G |
11: 73,231,385 (GRCm39) |
D213G |
probably benign |
Het |
St6galnac2 |
T |
A |
11: 116,581,141 (GRCm39) |
R60S |
probably benign |
Het |
Stk32c |
A |
G |
7: 138,701,363 (GRCm39) |
F263S |
probably damaging |
Het |
Supt6 |
T |
C |
11: 78,123,366 (GRCm39) |
I104V |
possibly damaging |
Het |
Tiam2 |
C |
T |
17: 3,465,410 (GRCm39) |
R380C |
probably damaging |
Het |
Trim25 |
C |
T |
11: 88,906,407 (GRCm39) |
T410I |
probably benign |
Het |
Usp18 |
T |
A |
6: 121,239,076 (GRCm39) |
C212S |
probably benign |
Het |
Vmn1r2 |
A |
G |
4: 3,172,588 (GRCm39) |
Y169C |
probably damaging |
Het |
Wdr33 |
A |
T |
18: 32,039,909 (GRCm39) |
|
probably benign |
Het |
Xpr1 |
A |
G |
1: 155,159,002 (GRCm39) |
Y597H |
probably benign |
Het |
Yy1 |
CGGG |
CGGGGGGGGG |
12: 108,759,916 (GRCm39) |
|
probably benign |
Het |
Zfp54 |
T |
A |
17: 21,654,404 (GRCm39) |
Y299* |
probably null |
Het |
Zfp566 |
T |
G |
7: 29,777,927 (GRCm39) |
S85R |
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 |
|
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'- TGAGCTCTGACTTCAGCCTC -3'
(R):5'- AGTCAAGGCCATGTGACAGC -3'
Sequencing Primer
(F):5'- TCGAGGCCAGGATGAACC -3'
(R):5'- TGATGCACAGGTAGACGCTC -3'
|
Posted On |
2014-06-23 |