Incidental Mutation 'R8882:Tex2'
| ID |
676998 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tex2
|
| Ensembl Gene |
ENSMUSG00000040548 |
| Gene Name |
testis expressed gene 2 |
| Synonyms |
4930568E07Rik, Taz4, Def-5 |
| MMRRC Submission |
068750-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8882 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
106392973-106504249 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 106435062 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 788
(D788G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041985
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042780]
[ENSMUST00000103070]
|
| AlphaFold |
Q6ZPJ0 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000042780
AA Change: D788G
|
| SMART Domains |
Protein: ENSMUSP00000041985
Gene: ENSMUSG00000040548
AA Change: D788G
| 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: D788G
|
| SMART Domains |
Protein: ENSMUSP00000099359
Gene: ENSMUSG00000040548
AA Change: D788G
| 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: 99.8%
- 20x: 99.5%
|
| Validation Efficiency |
100% (55/55) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actbl2 |
A |
T |
13: 111,392,033 (GRCm39) |
I123L |
probably benign |
Het |
| Adam18 |
T |
C |
8: 25,136,438 (GRCm39) |
D361G |
probably benign |
Het |
| Adcyap1r1 |
G |
A |
6: 55,468,219 (GRCm39) |
V352M |
possibly damaging |
Het |
| Ahnak |
T |
C |
19: 8,978,106 (GRCm39) |
L75P |
probably damaging |
Het |
| Arhgap23 |
T |
C |
11: 97,355,949 (GRCm39) |
S856P |
probably benign |
Het |
| Asprv1 |
G |
T |
6: 86,605,349 (GRCm39) |
C65F |
probably benign |
Het |
| Atp2b4 |
A |
T |
1: 133,654,193 (GRCm39) |
|
probably null |
Het |
| Cd55 |
A |
G |
1: 130,387,501 (GRCm39) |
V99A |
probably benign |
Het |
| Cit |
G |
A |
5: 116,001,089 (GRCm39) |
A163T |
probably benign |
Het |
| Dnah6 |
A |
T |
6: 73,155,481 (GRCm39) |
D711E |
probably benign |
Het |
| Dnajc15 |
A |
T |
14: 78,094,411 (GRCm39) |
V41E |
probably damaging |
Het |
| Dock2 |
GCACACACACA |
GCACACACACACA |
11: 34,595,436 (GRCm39) |
453 |
probably null |
Het |
| Dst |
T |
C |
1: 34,240,005 (GRCm39) |
S1785P |
probably damaging |
Het |
| Efhb |
A |
G |
17: 53,769,712 (GRCm39) |
V199A |
probably damaging |
Het |
| Esyt3 |
C |
T |
9: 99,202,909 (GRCm39) |
G498D |
probably damaging |
Het |
| Fbxo11 |
A |
G |
17: 88,304,957 (GRCm39) |
I562T |
|
Het |
| Fh1 |
C |
T |
1: 175,437,353 (GRCm39) |
V249I |
possibly damaging |
Het |
| Gdpgp1 |
T |
C |
7: 79,888,704 (GRCm39) |
I245T |
possibly damaging |
Het |
| Hinfp |
A |
G |
9: 44,209,629 (GRCm39) |
|
probably null |
Het |
| Hip1r |
A |
G |
5: 124,140,025 (GRCm39) |
K1043E |
probably damaging |
Het |
| Htt |
G |
A |
5: 34,979,061 (GRCm39) |
V815I |
probably benign |
Het |
| Jrk |
A |
G |
15: 74,579,004 (GRCm39) |
Y94H |
probably damaging |
Het |
| Krit1 |
T |
A |
5: 3,886,864 (GRCm39) |
N704K |
possibly damaging |
Het |
| Mmp17 |
A |
G |
5: 129,679,008 (GRCm39) |
D331G |
probably benign |
Het |
| Nlrp9a |
T |
A |
7: 26,257,703 (GRCm39) |
Y440* |
probably null |
Het |
| Nphp3 |
A |
G |
9: 103,882,793 (GRCm39) |
T216A |
possibly damaging |
Het |
| Or1e1f |
T |
G |
11: 73,855,940 (GRCm39) |
C169G |
probably damaging |
Het |
| Or4a79 |
G |
T |
2: 89,551,740 (GRCm39) |
C238* |
probably null |
Het |
| Or5ae2 |
T |
C |
7: 84,505,681 (GRCm39) |
Y37H |
probably damaging |
Het |
| Or7e176 |
T |
C |
9: 20,171,256 (GRCm39) |
F40S |
probably benign |
Het |
| Or8c15 |
T |
A |
9: 38,120,461 (GRCm39) |
Y35* |
probably null |
Het |
| Parva |
T |
C |
7: 112,027,211 (GRCm39) |
S14P |
probably benign |
Het |
| Pax6 |
A |
C |
2: 105,521,963 (GRCm39) |
N207H |
possibly damaging |
Het |
| Pde6a |
A |
G |
18: 61,378,619 (GRCm39) |
N314S |
|
Het |
| Phlpp1 |
T |
A |
1: 106,320,372 (GRCm39) |
S1456T |
probably benign |
Het |
| Plxnc1 |
A |
G |
10: 94,677,428 (GRCm39) |
V933A |
probably damaging |
Het |
| Rasgef1b |
A |
G |
5: 99,524,860 (GRCm39) |
S100P |
probably benign |
Het |
| Rpn2 |
A |
G |
2: 157,136,102 (GRCm39) |
H170R |
probably benign |
Het |
| Sbds |
A |
G |
5: 130,282,778 (GRCm39) |
|
probably null |
Het |
| Scube2 |
G |
C |
7: 109,451,680 (GRCm39) |
L158V |
probably damaging |
Het |
| Slc16a12 |
C |
A |
19: 34,649,854 (GRCm39) |
V394L |
probably benign |
Het |
| Slc23a2 |
A |
T |
2: 131,933,159 (GRCm39) |
Y100N |
possibly damaging |
Het |
| Slc30a9 |
G |
T |
5: 67,473,044 (GRCm39) |
E43* |
probably null |
Het |
| Specc1l |
A |
T |
10: 75,065,689 (GRCm39) |
M1L |
unknown |
Het |
| Sspo |
T |
A |
6: 48,452,390 (GRCm39) |
C2785S |
probably damaging |
Het |
| Star |
T |
C |
8: 26,302,897 (GRCm39) |
S280P |
probably benign |
Het |
| Strip1 |
A |
T |
3: 107,534,341 (GRCm39) |
M127K |
probably benign |
Het |
| Tbx19 |
C |
T |
1: 164,966,780 (GRCm39) |
V365M |
probably benign |
Het |
| Tspyl1 |
A |
G |
10: 34,158,494 (GRCm39) |
E73G |
possibly damaging |
Het |
| Ulk2 |
C |
T |
11: 61,698,887 (GRCm39) |
|
probably null |
Het |
| Vmn2r120 |
A |
T |
17: 57,852,229 (GRCm39) |
M29K |
probably benign |
Het |
| Vmn2r60 |
C |
A |
7: 41,790,518 (GRCm39) |
Q502K |
probably benign |
Het |
| Xpo5 |
A |
G |
17: 46,538,666 (GRCm39) |
D624G |
possibly damaging |
Het |
| Zfp119b |
T |
C |
17: 56,246,923 (GRCm39) |
R88G |
possibly damaging |
Het |
| Zfp879 |
C |
A |
11: 50,724,763 (GRCm39) |
E98* |
probably null |
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 |
|
|
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 |
|
|
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'- GAGACAACACATGCCTTTCGG -3'
(R):5'- AGCTATCGTTTCTTACCCAGGG -3'
Sequencing Primer
(F):5'- ACATGCCTTTCGGTGCCTAG -3'
(R):5'- CTTCTGCCCGCACACAG -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation