Incidental Mutation 'R9314:Tex2'
| ID |
705797 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tex2
|
| Ensembl Gene |
ENSMUSG00000040548 |
| Gene Name |
testis expressed gene 2 |
| Synonyms |
4930568E07Rik, Taz4, Def-5 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9314 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
106392973-106504249 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 106435075 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 784
(C784S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041985
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042780]
[ENSMUST00000103070]
|
| AlphaFold |
Q6ZPJ0 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000042780
AA Change: C784S
|
| SMART Domains |
Protein: ENSMUSP00000041985
Gene: ENSMUSG00000040548
AA Change: C784S
| 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: C784S
|
| SMART Domains |
Protein: ENSMUSP00000099359
Gene: ENSMUSG00000040548
AA Change: C784S
| 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: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
A |
C |
17: 24,547,593 (GRCm39) |
N260K |
possibly damaging |
Het |
| Anapc1 |
G |
A |
2: 128,464,420 (GRCm39) |
S1692L |
possibly damaging |
Het |
| Brca2 |
A |
G |
5: 150,474,359 (GRCm39) |
R2421G |
probably damaging |
Het |
| Cad |
A |
G |
5: 31,234,988 (GRCm39) |
Y2143C |
probably damaging |
Het |
| Calr3 |
T |
A |
8: 73,178,535 (GRCm39) |
D356V |
possibly damaging |
Het |
| Cd207 |
T |
A |
6: 83,652,699 (GRCm39) |
T144S |
probably damaging |
Het |
| Cntln |
T |
C |
4: 84,924,719 (GRCm39) |
L608P |
probably damaging |
Het |
| Dnah8 |
A |
T |
17: 30,990,857 (GRCm39) |
Y3300F |
probably benign |
Het |
| Emb |
T |
C |
13: 117,408,604 (GRCm39) |
I315T |
probably damaging |
Het |
| Esr1 |
T |
A |
10: 4,916,181 (GRCm39) |
V456E |
possibly damaging |
Het |
| Evpl |
A |
T |
11: 116,118,503 (GRCm39) |
H701Q |
probably benign |
Het |
| F5 |
C |
T |
1: 164,029,146 (GRCm39) |
T1715I |
probably benign |
Het |
| Fut10 |
T |
A |
8: 31,691,504 (GRCm39) |
H116Q |
probably damaging |
Het |
| Gm40460 |
ACAACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
ACAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
7: 141,794,447 (GRCm39) |
|
probably benign |
Het |
| Gm5591 |
T |
C |
7: 38,221,884 (GRCm39) |
T62A |
probably benign |
Het |
| Hectd4 |
T |
C |
5: 121,437,708 (GRCm39) |
|
probably null |
Het |
| Ifit1bl1 |
G |
C |
19: 34,576,693 (GRCm39) |
Q3E |
probably benign |
Het |
| Ighg3 |
A |
T |
12: 113,323,946 (GRCm39) |
D147E |
|
Het |
| Ighv8-13 |
A |
G |
12: 115,728,996 (GRCm39) |
V87A |
possibly damaging |
Het |
| Kdelr1 |
A |
G |
7: 45,531,050 (GRCm39) |
T160A |
probably benign |
Het |
| Kdm2a |
A |
G |
19: 4,372,510 (GRCm39) |
L945P |
probably damaging |
Het |
| Krt36 |
C |
T |
11: 99,994,227 (GRCm39) |
W283* |
probably null |
Het |
| Lamp3 |
T |
C |
16: 19,492,192 (GRCm39) |
M351V |
probably benign |
Het |
| Lox |
C |
G |
18: 52,653,911 (GRCm39) |
R395P |
probably damaging |
Het |
| Lrrtm3 |
T |
C |
10: 63,925,499 (GRCm39) |
|
probably benign |
Het |
| Madcam1 |
C |
A |
10: 79,501,481 (GRCm39) |
T182K |
probably damaging |
Het |
| Megf8 |
T |
A |
7: 25,029,297 (GRCm39) |
H280Q |
probably damaging |
Het |
| Mrgprb5 |
A |
G |
7: 47,818,174 (GRCm39) |
I187T |
probably benign |
Het |
| Muc1 |
T |
C |
3: 89,138,825 (GRCm39) |
V478A |
probably damaging |
Het |
| Mug1 |
T |
G |
6: 121,834,296 (GRCm39) |
V359G |
probably damaging |
Het |
| Myh4 |
A |
G |
11: 67,151,141 (GRCm39) |
H1932R |
probably benign |
Het |
| Naaladl1 |
A |
C |
19: 6,162,401 (GRCm39) |
N448H |
probably damaging |
Het |
| Or52b1 |
A |
T |
7: 104,979,081 (GRCm39) |
I106N |
probably damaging |
Het |
| Or5a1 |
C |
T |
19: 12,097,144 (GRCm39) |
E311K |
probably benign |
Het |
| Pkd1l1 |
A |
T |
11: 8,829,153 (GRCm39) |
Y1480N |
|
Het |
| Poll |
T |
C |
19: 45,547,091 (GRCm39) |
E127G |
probably benign |
Het |
| Ppl |
T |
C |
16: 4,922,367 (GRCm39) |
N305S |
possibly damaging |
Het |
| Prss53 |
A |
G |
7: 127,490,039 (GRCm39) |
V17A |
probably benign |
Het |
| Ptprj |
A |
G |
2: 90,301,631 (GRCm39) |
V74A |
possibly damaging |
Het |
| Rapgef4 |
A |
T |
2: 72,064,983 (GRCm39) |
H804L |
possibly damaging |
Het |
| Rassf8 |
A |
G |
6: 145,762,296 (GRCm39) |
T356A |
probably damaging |
Het |
| Rptor |
T |
C |
11: 119,786,772 (GRCm39) |
S1246P |
probably benign |
Het |
| Setdb2 |
A |
T |
14: 59,650,240 (GRCm39) |
I458N |
probably benign |
Het |
| Sgtb |
A |
G |
13: 104,254,933 (GRCm39) |
K68E |
possibly damaging |
Het |
| Slc19a3 |
T |
G |
1: 83,000,094 (GRCm39) |
I308L |
possibly damaging |
Het |
| Slc22a5 |
T |
C |
11: 53,762,487 (GRCm39) |
D320G |
possibly damaging |
Het |
| Slc34a2 |
T |
C |
5: 53,218,143 (GRCm39) |
S141P |
possibly damaging |
Het |
| Slc37a2 |
T |
C |
9: 37,150,482 (GRCm39) |
T158A |
possibly damaging |
Het |
| Slc7a1 |
T |
C |
5: 148,269,327 (GRCm39) |
I598V |
probably benign |
Het |
| Sphk2 |
T |
C |
7: 45,361,158 (GRCm39) |
D282G |
probably damaging |
Het |
| Spty2d1 |
G |
T |
7: 46,648,486 (GRCm39) |
P148T |
probably damaging |
Het |
| Supt3 |
A |
G |
17: 45,352,250 (GRCm39) |
T310A |
probably benign |
Het |
| Supt5 |
T |
A |
7: 28,019,799 (GRCm39) |
D457V |
probably damaging |
Het |
| Svep1 |
C |
T |
4: 58,070,347 (GRCm39) |
G2480R |
probably damaging |
Het |
| Tbcd |
T |
C |
11: 121,487,297 (GRCm39) |
V803A |
probably benign |
Het |
| Thrb |
A |
G |
14: 17,963,208 (GRCm38) |
H57R |
probably benign |
Het |
| Tmc4 |
T |
C |
7: 3,679,723 (GRCm39) |
T34A |
possibly damaging |
Het |
| Tmprss2 |
T |
C |
16: 97,400,459 (GRCm39) |
N4S |
probably benign |
Het |
| Trank1 |
A |
G |
9: 111,195,049 (GRCm39) |
I1024M |
probably damaging |
Het |
| Trnau1ap |
C |
A |
4: 132,056,697 (GRCm39) |
|
probably benign |
Het |
| Ttn |
A |
G |
2: 76,566,710 (GRCm39) |
V28061A |
probably damaging |
Het |
| Txnl4b |
C |
A |
8: 110,299,331 (GRCm39) |
P97Q |
probably benign |
Het |
| Ube4a |
T |
C |
9: 44,854,023 (GRCm39) |
T573A |
probably benign |
Het |
| Vit |
A |
T |
17: 78,927,044 (GRCm39) |
T330S |
probably benign |
Het |
| Wdr3 |
T |
C |
3: 100,050,288 (GRCm39) |
I750V |
probably benign |
Het |
| Zfp59 |
C |
T |
7: 27,554,029 (GRCm39) |
L494F |
possibly 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 |
|
|
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 |
|
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'- AGCTATCGTTTCTTACCCAGG -3'
Sequencing Primer
(F):5'- ACATGCCTTTCGGTGCCTAG -3'
(R):5'- GTTTCTTACCCAGGGCTTCTG -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation