Incidental Mutation 'R5835:Tex2'
| ID |
449556 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tex2
|
| Ensembl Gene |
ENSMUSG00000040548 |
| Gene Name |
testis expressed gene 2 |
| Synonyms |
4930568E07Rik, Taz4, Def-5 |
| MMRRC Submission |
044056-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5835 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
106392973-106504249 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 106410739 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 926
(A926T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041985
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042780]
|
| AlphaFold |
Q6ZPJ0 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000042780
AA Change: A926T
|
| SMART Domains |
Protein: ENSMUSP00000041985
Gene: ENSMUSG00000040548
AA Change: A926T
| 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: ENSMUST00000207249
AA Change: A428T
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930505A04Rik |
C |
T |
11: 30,376,349 (GRCm39) |
V173M |
probably damaging |
Het |
| A2m |
A |
G |
6: 121,616,295 (GRCm39) |
K141R |
probably damaging |
Het |
| Ablim3 |
T |
C |
18: 61,956,993 (GRCm39) |
E278G |
probably damaging |
Het |
| Adam28 |
A |
G |
14: 68,893,130 (GRCm39) |
W4R |
possibly damaging |
Het |
| Ahnak2 |
T |
C |
12: 112,742,230 (GRCm39) |
N614S |
possibly damaging |
Het |
| Arfgef1 |
A |
G |
1: 10,230,964 (GRCm39) |
S1182P |
probably damaging |
Het |
| Asb8 |
A |
T |
15: 98,034,263 (GRCm39) |
D97E |
probably damaging |
Het |
| AU041133 |
T |
A |
10: 81,987,046 (GRCm39) |
L232H |
probably damaging |
Het |
| Bmp2k |
T |
G |
5: 97,204,841 (GRCm39) |
V392G |
possibly damaging |
Het |
| Capn12 |
C |
A |
7: 28,581,383 (GRCm39) |
H79N |
probably benign |
Het |
| Casp2 |
C |
A |
6: 42,244,520 (GRCm39) |
S54R |
possibly damaging |
Het |
| Ccdc18 |
T |
C |
5: 108,288,740 (GRCm39) |
S163P |
possibly damaging |
Het |
| Ccdc92b |
A |
G |
11: 74,528,838 (GRCm39) |
E114G |
probably benign |
Het |
| Cd209c |
C |
A |
8: 3,995,699 (GRCm39) |
M34I |
probably benign |
Het |
| Ceacam18 |
A |
T |
7: 43,286,382 (GRCm39) |
H85L |
probably benign |
Het |
| Cndp1 |
C |
A |
18: 84,630,958 (GRCm39) |
A434S |
probably benign |
Het |
| Crybg1 |
T |
A |
10: 43,851,129 (GRCm39) |
T1581S |
probably benign |
Het |
| Cyb5d2 |
A |
T |
11: 72,680,036 (GRCm39) |
D86E |
probably damaging |
Het |
| Duox1 |
T |
G |
2: 122,158,341 (GRCm39) |
V608G |
probably benign |
Het |
| Exosc10 |
A |
G |
4: 148,649,844 (GRCm39) |
R425G |
probably damaging |
Het |
| Fat3 |
A |
T |
9: 16,287,129 (GRCm39) |
I798N |
probably damaging |
Het |
| Habp2 |
T |
A |
19: 56,295,218 (GRCm39) |
D36E |
probably benign |
Het |
| Herpud1 |
T |
C |
8: 95,118,867 (GRCm39) |
V207A |
probably damaging |
Het |
| Htt |
A |
G |
5: 34,970,534 (GRCm39) |
I561V |
probably benign |
Het |
| Hyls1 |
G |
A |
9: 35,472,480 (GRCm39) |
S312F |
probably benign |
Het |
| Igkv18-36 |
A |
G |
6: 69,969,512 (GRCm39) |
I93T |
probably damaging |
Het |
| Kalrn |
T |
G |
16: 33,807,461 (GRCm39) |
E2636A |
probably benign |
Het |
| Kif27 |
A |
G |
13: 58,460,960 (GRCm39) |
|
probably null |
Het |
| Mep1a |
G |
A |
17: 43,789,055 (GRCm39) |
H574Y |
probably benign |
Het |
| Myh6 |
T |
C |
14: 55,187,864 (GRCm39) |
K1197E |
probably damaging |
Het |
| Obscn |
T |
C |
11: 58,892,907 (GRCm39) |
T6780A |
probably benign |
Het |
| Obscn |
C |
T |
11: 58,932,953 (GRCm39) |
V4808M |
probably damaging |
Het |
| Or6c210 |
A |
G |
10: 129,495,803 (GRCm39) |
I43V |
probably benign |
Het |
| Pkhd1 |
T |
C |
1: 20,271,307 (GRCm39) |
D3082G |
probably benign |
Het |
| Plch1 |
T |
C |
3: 63,604,943 (GRCm39) |
M1645V |
probably benign |
Het |
| Ppip5k1 |
A |
G |
2: 121,168,380 (GRCm39) |
V674A |
probably benign |
Het |
| Prrc2b |
T |
A |
2: 32,096,485 (GRCm39) |
S619T |
probably benign |
Het |
| Rab44 |
A |
T |
17: 29,367,212 (GRCm39) |
H714L |
probably benign |
Het |
| Rybp |
A |
G |
6: 100,210,151 (GRCm39) |
Y70H |
possibly damaging |
Het |
| Sfrp1 |
A |
G |
8: 23,936,260 (GRCm39) |
K234R |
possibly damaging |
Het |
| Slc1a2 |
A |
G |
2: 102,607,795 (GRCm39) |
N481S |
probably damaging |
Het |
| Slc44a3 |
T |
G |
3: 121,320,849 (GRCm39) |
I51L |
probably benign |
Het |
| Slitrk1 |
A |
G |
14: 109,149,004 (GRCm39) |
F569S |
possibly damaging |
Het |
| Smurf2 |
A |
T |
11: 106,726,974 (GRCm39) |
N451K |
probably damaging |
Het |
| Sptbn2 |
T |
A |
19: 4,788,247 (GRCm39) |
D1075E |
probably damaging |
Het |
| Syngap1 |
A |
T |
17: 27,177,192 (GRCm39) |
H65L |
probably benign |
Het |
| Tdrd12 |
T |
C |
7: 35,228,689 (GRCm39) |
D11G |
probably damaging |
Het |
| Tm7sf2 |
A |
G |
19: 6,113,914 (GRCm39) |
F209S |
probably damaging |
Het |
| Trbv12-2 |
G |
A |
6: 41,095,774 (GRCm39) |
|
probably benign |
Het |
| Virma |
T |
A |
4: 11,514,036 (GRCm39) |
L630H |
probably damaging |
Het |
| Vmn1r68 |
A |
G |
7: 10,261,747 (GRCm39) |
I117T |
possibly damaging |
Het |
| Zan |
C |
A |
5: 137,454,917 (GRCm39) |
R1373L |
unknown |
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 |
|
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'- CTTGCCCTGTGACAGTGATG -3'
(R):5'- GGAAGTACCCGTTTGGATACTG -3'
Sequencing Primer
(F):5'- TGCTTGTTGAATAATTAAGACCAGC -3'
(R):5'- GTACCCGTTTGGATACTGTAATTTAG -3'
|
| Posted On |
2016-12-20 |
Incidental Mutation