Incidental Mutation 'R4342:Tex2'
| ID |
324189 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tex2
|
| Ensembl Gene |
ENSMUSG00000040548 |
| Gene Name |
testis expressed gene 2 |
| Synonyms |
4930568E07Rik, Taz4, Def-5 |
| MMRRC Submission |
041100-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4342 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
106392973-106504249 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to C
at 106457832 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119568
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042780]
[ENSMUST00000103070]
[ENSMUST00000128933]
[ENSMUST00000153870]
|
| AlphaFold |
Q6ZPJ0 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000042780
AA Change: S533G
|
| SMART Domains |
Protein: ENSMUSP00000041985
Gene: ENSMUSG00000040548
AA Change: S533G
| 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: S533G
|
| SMART Domains |
Protein: ENSMUSP00000099359
Gene: ENSMUSG00000040548
AA Change: S533G
| 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: S35G
|
| Meta Mutation Damage Score |
0.0860 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
99% (68/69) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars2 |
T |
C |
17: 45,827,421 (GRCm39) |
C488R |
probably benign |
Het |
| Adamts19 |
A |
T |
18: 59,075,572 (GRCm39) |
H489L |
probably damaging |
Het |
| Ahnak |
T |
C |
19: 8,989,447 (GRCm39) |
V3577A |
possibly damaging |
Het |
| Ajm1 |
A |
G |
2: 25,469,120 (GRCm39) |
Y264H |
possibly damaging |
Het |
| Arhgap44 |
G |
A |
11: 64,902,887 (GRCm39) |
R401* |
probably null |
Het |
| Cbx3-ps2 |
T |
C |
13: 65,707,502 (GRCm39) |
|
noncoding transcript |
Het |
| Ccdc174 |
T |
A |
6: 91,862,337 (GRCm39) |
L86* |
probably null |
Het |
| Cd38 |
A |
C |
5: 44,026,431 (GRCm39) |
I72L |
probably benign |
Het |
| Cers4 |
T |
C |
8: 4,571,223 (GRCm39) |
L264P |
probably damaging |
Het |
| Cldn23 |
A |
G |
8: 36,292,652 (GRCm39) |
S279P |
probably benign |
Het |
| Cth |
T |
A |
3: 157,630,613 (GRCm39) |
T19S |
probably damaging |
Het |
| Dnajc22 |
T |
A |
15: 99,002,345 (GRCm39) |
L330* |
probably null |
Het |
| Epas1 |
G |
A |
17: 87,131,228 (GRCm39) |
C336Y |
probably damaging |
Het |
| Evi5l |
A |
C |
8: 4,233,492 (GRCm39) |
|
probably benign |
Het |
| Fbxl2 |
A |
T |
9: 113,814,374 (GRCm39) |
H272Q |
probably benign |
Het |
| Fgd3 |
C |
T |
13: 49,427,185 (GRCm39) |
|
probably null |
Het |
| Fhdc1 |
C |
A |
3: 84,352,133 (GRCm39) |
V1031F |
probably benign |
Het |
| Fscn1 |
T |
C |
5: 142,957,776 (GRCm39) |
Y308H |
probably damaging |
Het |
| Garin3 |
A |
G |
11: 46,298,043 (GRCm39) |
D449G |
possibly damaging |
Het |
| Gm5878 |
G |
A |
6: 85,102,633 (GRCm39) |
R31* |
probably null |
Het |
| Gpatch2l |
T |
C |
12: 86,307,453 (GRCm39) |
V277A |
probably benign |
Het |
| Greb1l |
T |
A |
18: 10,544,561 (GRCm39) |
M1385K |
probably benign |
Het |
| Grin2a |
A |
G |
16: 9,471,453 (GRCm39) |
I605T |
possibly damaging |
Het |
| Hoxc11 |
C |
T |
15: 102,863,106 (GRCm39) |
S49F |
probably damaging |
Het |
| Igf2r |
C |
T |
17: 12,928,398 (GRCm39) |
E982K |
possibly damaging |
Het |
| Ighv10-3 |
A |
T |
12: 114,487,124 (GRCm39) |
M99K |
possibly damaging |
Het |
| Itgb4 |
A |
T |
11: 115,879,555 (GRCm39) |
T614S |
probably benign |
Het |
| Kcnv1 |
G |
A |
15: 44,977,840 (GRCm39) |
T66M |
probably damaging |
Het |
| Mast4 |
A |
G |
13: 102,910,756 (GRCm39) |
V461A |
probably damaging |
Het |
| Mcts2 |
G |
A |
2: 152,529,584 (GRCm39) |
V132M |
probably damaging |
Het |
| Mical3 |
C |
A |
6: 120,911,799 (GRCm39) |
E1083* |
probably null |
Het |
| Nbeal2 |
A |
G |
9: 110,460,861 (GRCm39) |
|
probably benign |
Het |
| Nek4 |
T |
C |
14: 30,675,863 (GRCm39) |
V66A |
probably damaging |
Het |
| Nfasc |
A |
G |
1: 132,559,443 (GRCm39) |
F229S |
probably damaging |
Het |
| Nhsl1 |
T |
C |
10: 18,402,437 (GRCm39) |
F1221S |
probably damaging |
Het |
| Nr1d1 |
T |
G |
11: 98,662,640 (GRCm39) |
K118Q |
probably damaging |
Het |
| Ntaq1 |
T |
C |
15: 58,016,110 (GRCm39) |
S120P |
probably benign |
Het |
| Ntm |
T |
C |
9: 29,020,727 (GRCm39) |
E164G |
probably damaging |
Het |
| Or51a7 |
A |
G |
7: 102,615,231 (GRCm39) |
N308S |
probably benign |
Het |
| Parp1 |
G |
T |
1: 180,414,894 (GRCm39) |
A411S |
probably benign |
Het |
| Pds5b |
A |
G |
5: 150,724,319 (GRCm39) |
T1301A |
probably benign |
Het |
| Pkhd1 |
A |
G |
1: 20,128,841 (GRCm39) |
V3954A |
probably benign |
Het |
| Pkp4 |
A |
T |
2: 59,180,952 (GRCm39) |
K739I |
probably damaging |
Het |
| Pla2g4e |
T |
C |
2: 120,016,927 (GRCm39) |
|
probably benign |
Het |
| Plod3 |
G |
C |
5: 137,017,000 (GRCm39) |
A50P |
probably benign |
Het |
| Ralgds |
T |
C |
2: 28,442,107 (GRCm39) |
L96P |
probably damaging |
Het |
| Rbm6 |
A |
T |
9: 107,724,446 (GRCm39) |
|
probably benign |
Het |
| Scp2d1 |
T |
C |
2: 144,666,087 (GRCm39) |
L142P |
probably damaging |
Het |
| Setd5 |
AT |
ATT |
6: 113,088,281 (GRCm39) |
|
probably benign |
Het |
| Sgf29 |
G |
A |
7: 126,270,949 (GRCm39) |
C143Y |
probably damaging |
Het |
| Slc22a12 |
A |
G |
19: 6,591,129 (GRCm39) |
I156T |
probably benign |
Het |
| Stambpl1 |
A |
G |
19: 34,211,446 (GRCm39) |
Q169R |
probably benign |
Het |
| Trip11 |
A |
T |
12: 101,850,575 (GRCm39) |
I878N |
probably damaging |
Het |
| Ttf1 |
C |
T |
2: 28,955,488 (GRCm39) |
S284L |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Ugt2b5 |
A |
T |
5: 87,287,582 (GRCm39) |
V195E |
probably damaging |
Het |
| Vmn1r14 |
T |
A |
6: 57,210,808 (GRCm39) |
Y85N |
probably benign |
Het |
| Zfp131 |
C |
T |
13: 120,237,554 (GRCm39) |
R268H |
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 |
|
|
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 |
|
|
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'- AGCTGTTTGAGTTCCTGGAC -3'
(R):5'- AGACGCTCGGCTTCTTTATAATG -3'
Sequencing Primer
(F):5'- GTGGCTCACAACCATCTGTAATGG -3'
(R):5'- ATAATGTGTGTCTACGCGTACC -3'
|
| Posted On |
2015-06-24 |
Incidental Mutation