Incidental Mutation 'R5258:Tex2'
| ID |
401259 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tex2
|
| Ensembl Gene |
ENSMUSG00000040548 |
| Gene Name |
testis expressed gene 2 |
| Synonyms |
4930568E07Rik, Taz4, Def-5 |
| MMRRC Submission |
042828-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5258 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
106392973-106504249 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to A
at 106458585 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: M282L
|
| SMART Domains |
Protein: ENSMUSP00000041985
Gene: ENSMUSG00000040548
AA Change: M282L
| 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: M282L
|
| SMART Domains |
Protein: ENSMUSP00000099359
Gene: ENSMUSG00000040548
AA Change: M282L
| 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
|
| Meta Mutation Damage Score |
0.0594 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.4%
|
| Validation Efficiency |
98% (55/56) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
T |
A |
14: 32,385,266 (GRCm39) |
D233V |
probably damaging |
Het |
| Abca13 |
A |
T |
11: 9,199,684 (GRCm39) |
T128S |
possibly damaging |
Het |
| Abca16 |
T |
G |
7: 120,035,992 (GRCm39) |
|
probably null |
Het |
| Abcc8 |
T |
C |
7: 45,757,811 (GRCm39) |
I1313V |
probably benign |
Het |
| Abcc8 |
C |
T |
7: 45,806,572 (GRCm39) |
V379I |
probably benign |
Het |
| Acp3 |
T |
C |
9: 104,186,674 (GRCm39) |
I266V |
probably benign |
Het |
| Asf1b |
C |
T |
8: 84,695,896 (GRCm39) |
T179I |
probably benign |
Het |
| B3gnt7 |
A |
G |
1: 86,233,287 (GRCm39) |
K61E |
possibly damaging |
Het |
| Card11 |
G |
A |
5: 140,862,180 (GRCm39) |
P1039L |
possibly damaging |
Het |
| Cd1d2 |
C |
G |
3: 86,894,954 (GRCm39) |
R147G |
possibly damaging |
Het |
| Cfap68 |
T |
C |
9: 50,675,633 (GRCm39) |
|
probably benign |
Het |
| Cfap69 |
T |
C |
5: 5,654,271 (GRCm39) |
|
probably null |
Het |
| Ddx46 |
T |
C |
13: 55,800,837 (GRCm39) |
F331L |
possibly damaging |
Het |
| Dkk4 |
C |
A |
8: 23,117,031 (GRCm39) |
L215I |
probably damaging |
Het |
| Dnhd1 |
C |
T |
7: 105,323,244 (GRCm39) |
T584I |
probably benign |
Het |
| Dock3 |
T |
C |
9: 106,874,124 (GRCm39) |
Y449C |
probably damaging |
Het |
| Foxi2 |
C |
T |
7: 135,012,256 (GRCm39) |
T48M |
probably benign |
Het |
| Gm12887 |
T |
C |
4: 121,472,897 (GRCm39) |
K82E |
probably benign |
Het |
| Gm4787 |
G |
C |
12: 81,424,604 (GRCm39) |
T518S |
probably benign |
Het |
| Igkv4-80 |
T |
A |
6: 68,993,811 (GRCm39) |
T27S |
probably benign |
Het |
| Invs |
A |
G |
4: 48,396,374 (GRCm39) |
D349G |
possibly damaging |
Het |
| Lbhd1 |
A |
G |
19: 8,861,453 (GRCm39) |
|
probably benign |
Het |
| Lipo3 |
T |
A |
19: 33,591,243 (GRCm39) |
|
probably benign |
Het |
| Llgl1 |
G |
C |
11: 60,602,389 (GRCm39) |
|
probably null |
Het |
| Lyzl6 |
T |
A |
11: 103,525,899 (GRCm39) |
I74F |
probably damaging |
Het |
| Map3k6 |
T |
C |
4: 132,974,953 (GRCm39) |
V662A |
possibly damaging |
Het |
| Megf8 |
T |
A |
7: 25,047,751 (GRCm39) |
F1645I |
possibly damaging |
Het |
| Mfsd4b2 |
T |
A |
10: 39,798,017 (GRCm39) |
M113L |
probably benign |
Het |
| Mib1 |
G |
A |
18: 10,795,856 (GRCm39) |
|
probably null |
Het |
| Mrps6 |
T |
A |
16: 91,896,543 (GRCm39) |
V36E |
probably damaging |
Het |
| Nhsl1 |
C |
A |
10: 18,400,070 (GRCm39) |
S432* |
probably null |
Het |
| Nle1 |
T |
C |
11: 82,795,772 (GRCm39) |
D225G |
probably damaging |
Het |
| Nlrp4c |
T |
A |
7: 6,069,622 (GRCm39) |
S508T |
probably benign |
Het |
| Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
| Or5d37 |
A |
T |
2: 87,923,762 (GRCm39) |
Y173N |
probably benign |
Het |
| P2rx7 |
A |
G |
5: 122,819,066 (GRCm39) |
E496G |
probably damaging |
Het |
| Prdm16 |
A |
T |
4: 154,451,671 (GRCm39) |
D179E |
possibly damaging |
Het |
| Psca |
A |
T |
15: 74,588,240 (GRCm39) |
I56F |
probably damaging |
Het |
| Ptprg |
A |
G |
14: 12,142,431 (GRCm38) |
T361A |
probably benign |
Het |
| Ptrhd1 |
A |
G |
12: 4,286,481 (GRCm39) |
Y124C |
probably damaging |
Het |
| Sesn1 |
C |
T |
10: 41,770,984 (GRCm39) |
P172S |
probably benign |
Het |
| Sspo |
T |
C |
6: 48,453,428 (GRCm39) |
V2872A |
probably damaging |
Het |
| Stard9 |
T |
A |
2: 120,529,824 (GRCm39) |
L2027H |
probably damaging |
Het |
| Tas2r114 |
T |
A |
6: 131,666,504 (GRCm39) |
I175F |
probably benign |
Het |
| Tfdp1 |
C |
T |
8: 13,419,529 (GRCm39) |
T86M |
possibly damaging |
Het |
| Trav14-1 |
C |
T |
14: 53,791,730 (GRCm39) |
H27Y |
probably benign |
Het |
| Trim24 |
A |
T |
6: 37,896,335 (GRCm39) |
Q264L |
probably benign |
Het |
| Vmn2r90 |
A |
G |
17: 17,933,114 (GRCm39) |
I225V |
probably benign |
Het |
| Vps13b |
A |
G |
15: 35,794,567 (GRCm39) |
T2326A |
possibly damaging |
Het |
| Zfp354b |
A |
C |
11: 50,813,917 (GRCm39) |
I336S |
probably benign |
Het |
| Zfp407 |
C |
T |
18: 84,334,051 (GRCm39) |
V1761I |
probably damaging |
Het |
| Zfp958 |
A |
T |
8: 4,678,456 (GRCm39) |
E160D |
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 |
|
|
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 |
|
|
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'- AGTTATTGCTTTCCAAGTGCCC -3'
(R):5'- CACAGACACTTGATGAAGACTCTG -3'
Sequencing Primer
(F):5'- TCCAAGTGCCCGTTCAAG -3'
(R):5'- GATGAAGACTCTGGTCAAGTCTC -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation