Incidental Mutation 'IGL00090:Tex2'
ID |
1115 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Tex2
|
Ensembl Gene |
ENSMUSG00000040548 |
Gene Name |
testis expressed gene 2 |
Synonyms |
4930568E07Rik, Taz4, Def-5 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL00090
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
106392973-106504249 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 106459361 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 23
(V23E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000120781
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042780]
[ENSMUST00000103070]
[ENSMUST00000128933]
[ENSMUST00000153870]
|
AlphaFold |
Q6ZPJ0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000042780
AA Change: V23E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000041985 Gene: ENSMUSG00000040548 AA Change: V23E
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: V23E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000099359 Gene: ENSMUSG00000040548 AA Change: V23E
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: V23E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000120781 Gene: ENSMUSG00000040548 AA Change: V23E
Domain | Start | End | E-Value | Type |
low complexity region
|
119 |
168 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000153870
AA Change: V23E
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000207249
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb5 |
T |
C |
12: 118,854,345 (GRCm39) |
T857A |
probably benign |
Het |
Abcc9 |
A |
T |
6: 142,578,916 (GRCm39) |
|
probably benign |
Het |
Adam11 |
A |
G |
11: 102,667,657 (GRCm39) |
T709A |
probably benign |
Het |
Adgre1 |
A |
G |
17: 57,757,055 (GRCm39) |
I771V |
probably benign |
Het |
Adgrv1 |
T |
G |
13: 81,553,527 (GRCm39) |
|
probably null |
Het |
Adgrv1 |
C |
T |
13: 81,726,220 (GRCm39) |
D602N |
probably damaging |
Het |
Adra1d |
G |
T |
2: 131,403,597 (GRCm39) |
D164E |
possibly damaging |
Het |
Ago3 |
A |
G |
4: 126,265,334 (GRCm39) |
L319P |
probably damaging |
Het |
Aim2 |
A |
G |
1: 173,283,031 (GRCm39) |
S38G |
probably benign |
Het |
Apoh |
A |
G |
11: 108,286,660 (GRCm39) |
D28G |
probably benign |
Het |
Atm |
C |
T |
9: 53,435,743 (GRCm39) |
R189K |
probably damaging |
Het |
Bbs1 |
T |
C |
19: 4,943,038 (GRCm39) |
T451A |
probably benign |
Het |
BC034090 |
T |
C |
1: 155,101,193 (GRCm39) |
D719G |
possibly damaging |
Het |
Bcr |
T |
C |
10: 74,992,903 (GRCm39) |
|
probably benign |
Het |
Bmp2 |
A |
T |
2: 133,402,947 (GRCm39) |
Q166L |
probably benign |
Het |
Bms1 |
A |
T |
6: 118,381,544 (GRCm39) |
S665T |
probably benign |
Het |
Ccser1 |
A |
T |
6: 62,357,126 (GRCm39) |
T855S |
possibly damaging |
Het |
Cfap36 |
C |
T |
11: 29,172,875 (GRCm39) |
V217M |
probably benign |
Het |
Clca3b |
T |
C |
3: 144,542,393 (GRCm39) |
N470D |
probably damaging |
Het |
Cort |
A |
G |
4: 149,209,752 (GRCm39) |
F100S |
probably damaging |
Het |
Cyp4f14 |
G |
T |
17: 33,133,540 (GRCm39) |
D105E |
probably benign |
Het |
Dnah1 |
A |
G |
14: 31,009,830 (GRCm39) |
S1913P |
probably benign |
Het |
Fam91a1 |
A |
T |
15: 58,302,584 (GRCm39) |
H308L |
probably damaging |
Het |
Fbn1 |
A |
C |
2: 125,166,867 (GRCm39) |
I2016M |
probably damaging |
Het |
Fibcd1 |
T |
A |
2: 31,723,886 (GRCm39) |
Q251L |
possibly damaging |
Het |
Flg2 |
T |
A |
3: 93,109,416 (GRCm39) |
Y481* |
probably null |
Het |
Ly9 |
A |
T |
1: 171,421,019 (GRCm39) |
I624N |
probably damaging |
Het |
Mapt |
C |
T |
11: 104,213,311 (GRCm39) |
S301L |
probably damaging |
Het |
Meiob |
G |
A |
17: 25,042,603 (GRCm39) |
V144I |
probably benign |
Het |
Muc4 |
G |
A |
16: 32,754,086 (GRCm38) |
G1321R |
probably benign |
Het |
Myo5a |
T |
A |
9: 75,068,779 (GRCm39) |
C660* |
probably null |
Het |
Necab3 |
G |
T |
2: 154,389,488 (GRCm39) |
|
probably benign |
Het |
Nr2c2ap |
A |
G |
8: 70,585,279 (GRCm39) |
Y93C |
probably damaging |
Het |
Nxpe5 |
A |
G |
5: 138,247,096 (GRCm39) |
D356G |
probably benign |
Het |
Or10ak9 |
T |
A |
4: 118,726,484 (GRCm39) |
Y168N |
probably damaging |
Het |
Or2w25 |
A |
T |
11: 59,504,147 (GRCm39) |
Y119F |
possibly damaging |
Het |
Plce1 |
A |
G |
19: 38,734,232 (GRCm39) |
Q1544R |
probably damaging |
Het |
Plppr4 |
T |
A |
3: 117,115,869 (GRCm39) |
T605S |
probably benign |
Het |
Poglut1 |
C |
A |
16: 38,363,278 (GRCm39) |
W167L |
possibly damaging |
Het |
Pou2f1 |
G |
T |
1: 165,729,867 (GRCm39) |
R162S |
probably damaging |
Het |
Ptprf |
A |
G |
4: 118,080,417 (GRCm39) |
|
probably benign |
Het |
Reln |
C |
A |
5: 22,244,563 (GRCm39) |
G805V |
possibly damaging |
Het |
Rexo2 |
A |
G |
9: 48,385,747 (GRCm39) |
S126P |
probably damaging |
Het |
Robo4 |
A |
G |
9: 37,322,400 (GRCm39) |
S844G |
probably damaging |
Het |
Scn7a |
A |
G |
2: 66,513,671 (GRCm39) |
|
probably benign |
Het |
Sdc1 |
A |
G |
12: 8,840,459 (GRCm39) |
T75A |
possibly damaging |
Het |
Slc38a4 |
C |
T |
15: 96,917,690 (GRCm39) |
E12K |
probably benign |
Het |
Spata31h1 |
T |
G |
10: 82,119,586 (GRCm39) |
M4475L |
probably benign |
Het |
Tbck |
T |
C |
3: 132,448,854 (GRCm39) |
|
probably null |
Het |
Zfp770 |
A |
G |
2: 114,026,413 (GRCm39) |
V552A |
probably benign |
Het |
Zfyve26 |
T |
C |
12: 79,296,234 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Tex2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
|
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 |
|
|
Posted On |
2011-07-12 |