Incidental Mutation 'R7622:Tex2'
| ID |
589210 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tex2
|
| Ensembl Gene |
ENSMUSG00000040548 |
| Gene Name |
testis expressed gene 2 |
| Synonyms |
4930568E07Rik, Taz4, Def-5 |
| MMRRC Submission |
045717-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7622 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
106392973-106504249 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 106437721 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Tyrosine
at position 650
(D650Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041985
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042780]
[ENSMUST00000103070]
|
| AlphaFold |
Q6ZPJ0 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000042780
AA Change: D650Y
|
| SMART Domains |
Protein: ENSMUSP00000041985
Gene: ENSMUSG00000040548
AA Change: D650Y
| 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: D650Y
|
| SMART Domains |
Protein: ENSMUSP00000099359
Gene: ENSMUSG00000040548
AA Change: D650Y
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
98% (55/56) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrd1 |
G |
A |
5: 129,216,688 (GRCm39) |
D384N |
probably benign |
Het |
| Aqp8 |
T |
C |
7: 123,065,883 (GRCm39) |
F226S |
possibly damaging |
Het |
| Arl6ip6 |
A |
G |
2: 53,107,339 (GRCm39) |
Y207C |
probably damaging |
Het |
| Bltp1 |
C |
A |
3: 37,002,562 (GRCm39) |
C1502* |
probably null |
Het |
| Cbfa2t2 |
A |
G |
2: 154,342,365 (GRCm39) |
E27G |
possibly damaging |
Het |
| Cdc42bpb |
T |
G |
12: 111,261,206 (GRCm39) |
E201A |
unknown |
Het |
| Cfap54 |
A |
C |
10: 92,792,806 (GRCm39) |
V1769G |
unknown |
Het |
| Dmxl2 |
C |
T |
9: 54,379,502 (GRCm39) |
G7S |
probably damaging |
Het |
| Dnah6 |
G |
T |
6: 73,101,742 (GRCm39) |
F1927L |
possibly damaging |
Het |
| Dnajc6 |
A |
G |
4: 101,497,688 (GRCm39) |
E942G |
probably damaging |
Het |
| Fam170a |
A |
G |
18: 50,415,969 (GRCm39) |
R324G |
probably benign |
Het |
| Gapdhs |
G |
A |
7: 30,438,756 (GRCm39) |
T9I |
unknown |
Het |
| Gm10320 |
T |
A |
13: 98,626,232 (GRCm39) |
R51* |
probably null |
Het |
| Gm19410 |
A |
T |
8: 36,277,501 (GRCm39) |
T1776S |
possibly damaging |
Het |
| Gm4846 |
A |
T |
1: 166,323,441 (GRCm39) |
M94K |
possibly damaging |
Het |
| Ighv2-5 |
G |
A |
12: 113,649,358 (GRCm39) |
Q32* |
probably null |
Het |
| Klc2 |
T |
C |
19: 5,161,660 (GRCm39) |
E310G |
probably damaging |
Het |
| Krt75 |
A |
G |
15: 101,478,707 (GRCm39) |
M309T |
probably damaging |
Het |
| Lrp11 |
G |
A |
10: 7,465,936 (GRCm39) |
G41R |
unknown |
Het |
| Lrrc52 |
G |
T |
1: 167,293,664 (GRCm39) |
P207Q |
probably benign |
Het |
| Lrrc52 |
G |
T |
1: 167,293,665 (GRCm39) |
P207T |
probably benign |
Het |
| Lrrk2 |
A |
T |
15: 91,696,526 (GRCm39) |
D2438V |
probably damaging |
Het |
| Mycbp |
C |
T |
4: 123,799,094 (GRCm39) |
T28M |
probably damaging |
Het |
| Myh14 |
A |
G |
7: 44,281,846 (GRCm39) |
V804A |
probably benign |
Het |
| Myo16 |
A |
G |
8: 10,426,238 (GRCm39) |
I332V |
unknown |
Het |
| Ncor1 |
G |
T |
11: 62,208,794 (GRCm39) |
Q1359K |
probably benign |
Het |
| Oog3 |
T |
C |
4: 143,884,889 (GRCm39) |
D349G |
probably benign |
Het |
| Or12e1 |
A |
T |
2: 87,022,594 (GRCm39) |
I188L |
probably benign |
Het |
| Or1j21 |
A |
G |
2: 36,683,943 (GRCm39) |
K232E |
probably benign |
Het |
| Or52b4i |
A |
G |
7: 102,191,830 (GRCm39) |
H229R |
probably benign |
Het |
| Or8k53 |
A |
G |
2: 86,178,006 (GRCm39) |
Y35H |
possibly damaging |
Het |
| Pate4 |
A |
G |
9: 35,519,595 (GRCm39) |
S32P |
possibly damaging |
Het |
| Pcdhb7 |
A |
C |
18: 37,475,514 (GRCm39) |
S217R |
probably benign |
Het |
| Pde1c |
G |
A |
6: 56,103,910 (GRCm39) |
R580C |
probably damaging |
Het |
| Pi4ka |
C |
A |
16: 17,111,841 (GRCm39) |
A1545S |
|
Het |
| Pign |
G |
T |
1: 105,575,842 (GRCm39) |
T266K |
possibly damaging |
Het |
| Pitpnm2 |
A |
G |
5: 124,260,090 (GRCm39) |
I1134T |
probably benign |
Het |
| Ppfia2 |
G |
A |
10: 106,666,520 (GRCm39) |
V409I |
possibly damaging |
Het |
| Prr7 |
A |
G |
13: 55,620,609 (GRCm39) |
T206A |
probably benign |
Het |
| Rnf13 |
A |
T |
3: 57,727,955 (GRCm39) |
R212* |
probably null |
Het |
| Rwdd2b |
T |
C |
16: 87,231,500 (GRCm39) |
N218S |
probably benign |
Het |
| Serpina3m |
A |
G |
12: 104,355,834 (GRCm39) |
D167G |
possibly damaging |
Het |
| Slit2 |
A |
T |
5: 48,142,547 (GRCm39) |
N56Y |
probably damaging |
Het |
| Sprr3 |
G |
T |
3: 92,364,592 (GRCm39) |
T84K |
probably damaging |
Het |
| Stab2 |
A |
T |
10: 86,709,766 (GRCm39) |
H1626Q |
possibly damaging |
Het |
| Tmprss6 |
A |
G |
15: 78,330,926 (GRCm39) |
S436P |
probably benign |
Het |
| Uba2 |
A |
C |
7: 33,864,860 (GRCm39) |
F63L |
probably damaging |
Het |
| Ubxn2b |
C |
T |
4: 6,214,692 (GRCm39) |
S242L |
probably damaging |
Het |
| Vmn1r86 |
T |
G |
7: 12,836,685 (GRCm39) |
I64L |
probably benign |
Het |
| Vmn2r67 |
A |
T |
7: 84,785,662 (GRCm39) |
V781E |
probably damaging |
Het |
| Vmn2r80 |
T |
A |
10: 79,030,097 (GRCm39) |
F641Y |
probably damaging |
Het |
| Wdfy4 |
A |
T |
14: 32,800,231 (GRCm39) |
I1965K |
|
Het |
| Wdr25 |
G |
A |
12: 108,958,819 (GRCm39) |
G344S |
possibly damaging |
Het |
| Wdr90 |
G |
T |
17: 26,073,083 (GRCm39) |
F837L |
probably benign |
Het |
| Xpo4 |
A |
G |
14: 57,834,468 (GRCm39) |
V704A |
possibly damaging |
Het |
| Zc3h12d |
A |
G |
10: 7,743,033 (GRCm39) |
K268E |
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 |
|
|
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 |
|
|
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'- ATTTCAGTCAAGGCCATGTGAC -3'
Sequencing Primer
(F):5'- TCGAGGCCAGGATGAACC -3'
(R):5'- TCAAGGCCATGTGACAGCCTG -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation