Incidental Mutation 'R6785:Tex2'
| ID |
531638 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tex2
|
| Ensembl Gene |
ENSMUSG00000040548 |
| Gene Name |
testis expressed gene 2 |
| Synonyms |
4930568E07Rik, Taz4, Def-5 |
| MMRRC Submission |
044899-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6785 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
106392973-106504249 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 106424776 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Arginine
at position 334
(I334R)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042780]
|
| AlphaFold |
Q6ZPJ0 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000042780
AA Change: I832R
|
| SMART Domains |
Protein: ENSMUSP00000041985
Gene: ENSMUSG00000040548
AA Change: I832R
| 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 |
probably damaging
Transcript: ENSMUST00000207249
AA Change: I334R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.6610 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.3%
|
| Validation Efficiency |
98% (59/60) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi1 |
A |
G |
2: 22,843,479 (GRCm39) |
V316A |
probably benign |
Het |
| Acad12 |
T |
C |
5: 121,747,908 (GRCm39) |
Y170C |
probably damaging |
Het |
| Acss2 |
T |
C |
2: 155,402,605 (GRCm39) |
V587A |
probably damaging |
Het |
| Adamtsl3 |
A |
G |
7: 82,171,212 (GRCm39) |
I422V |
probably damaging |
Het |
| Aldh18a1 |
A |
G |
19: 40,556,788 (GRCm39) |
L375P |
probably damaging |
Het |
| B020011L13Rik |
A |
G |
1: 117,728,799 (GRCm39) |
D102G |
possibly damaging |
Het |
| Cfap74 |
T |
A |
4: 155,538,481 (GRCm39) |
|
probably benign |
Het |
| Coa4 |
G |
A |
7: 100,188,460 (GRCm39) |
V58M |
probably damaging |
Het |
| Crybg1 |
T |
C |
10: 43,875,167 (GRCm39) |
N647S |
probably benign |
Het |
| Dync1h1 |
G |
A |
12: 110,596,113 (GRCm39) |
G1547S |
probably damaging |
Het |
| Espnl |
A |
G |
1: 91,249,943 (GRCm39) |
D30G |
probably benign |
Het |
| Fasl |
T |
A |
1: 161,609,404 (GRCm39) |
Y194F |
probably benign |
Het |
| Fbxw8 |
T |
C |
5: 118,230,754 (GRCm39) |
E349G |
probably damaging |
Het |
| Gen1 |
A |
G |
12: 11,312,531 (GRCm39) |
V13A |
possibly damaging |
Het |
| Gm4559 |
A |
G |
7: 141,827,845 (GRCm39) |
C86R |
unknown |
Het |
| H2-M9 |
T |
C |
17: 36,953,125 (GRCm39) |
N61D |
probably damaging |
Het |
| H6pd |
C |
T |
4: 150,067,247 (GRCm39) |
E380K |
possibly damaging |
Het |
| Herc1 |
TCCC |
TCC |
9: 66,408,470 (GRCm39) |
|
probably null |
Het |
| Hnrnpd |
C |
A |
5: 100,126,283 (GRCm39) |
K67N |
probably benign |
Het |
| Hspg2 |
T |
C |
4: 137,235,709 (GRCm39) |
S170P |
probably damaging |
Het |
| Igsf10 |
G |
T |
3: 59,226,665 (GRCm39) |
P2336Q |
probably damaging |
Het |
| Itih3 |
C |
T |
14: 30,634,572 (GRCm39) |
|
probably null |
Het |
| Katnb1 |
T |
C |
8: 95,822,270 (GRCm39) |
Y298H |
probably benign |
Het |
| Kif21a |
A |
T |
15: 90,819,933 (GRCm39) |
N1610K |
probably damaging |
Het |
| Lce1l |
A |
T |
3: 92,757,500 (GRCm39) |
C119* |
probably null |
Het |
| Lcn2 |
C |
T |
2: 32,277,039 (GRCm39) |
|
probably null |
Het |
| Lmf2 |
A |
T |
15: 89,236,236 (GRCm39) |
S588T |
probably benign |
Het |
| Mboat7 |
A |
G |
7: 3,688,835 (GRCm39) |
L231P |
probably benign |
Het |
| Mier2 |
T |
C |
10: 79,380,547 (GRCm39) |
R288G |
probably damaging |
Het |
| Mybbp1a |
T |
C |
11: 72,338,392 (GRCm39) |
V694A |
probably benign |
Het |
| Ndnf |
C |
A |
6: 65,680,047 (GRCm39) |
L109I |
probably benign |
Het |
| Nfkb1 |
C |
A |
3: 135,321,064 (GRCm39) |
E230D |
probably benign |
Het |
| Nostrin |
A |
G |
2: 69,014,271 (GRCm39) |
K409R |
probably benign |
Het |
| Or1j10 |
A |
G |
2: 36,266,854 (GRCm39) |
Q22R |
probably benign |
Het |
| Or1j10 |
C |
A |
2: 36,266,963 (GRCm39) |
Y58* |
probably null |
Het |
| Or8k35 |
T |
A |
2: 86,424,765 (GRCm39) |
M136L |
probably damaging |
Het |
| Pdpr |
C |
A |
8: 111,851,243 (GRCm39) |
T534N |
probably benign |
Het |
| Plekhf1 |
G |
A |
7: 37,921,488 (GRCm39) |
Q27* |
probably null |
Het |
| Ppp6c |
A |
T |
2: 39,087,593 (GRCm39) |
H204Q |
probably benign |
Het |
| Prrc2c |
T |
C |
1: 162,536,670 (GRCm39) |
|
probably benign |
Het |
| Prrg2 |
A |
G |
7: 44,709,649 (GRCm39) |
F83L |
probably damaging |
Het |
| Rab11fip3 |
T |
G |
17: 26,210,692 (GRCm39) |
D938A |
probably damaging |
Het |
| Rai1 |
A |
G |
11: 60,079,620 (GRCm39) |
N1228S |
probably benign |
Het |
| Ryr1 |
G |
T |
7: 28,764,299 (GRCm39) |
T3060K |
probably benign |
Het |
| Scube2 |
A |
G |
7: 109,409,824 (GRCm39) |
I557T |
probably benign |
Het |
| Setdb1 |
C |
A |
3: 95,233,712 (GRCm39) |
R1066L |
probably benign |
Het |
| Shoc1 |
T |
C |
4: 59,049,066 (GRCm39) |
M1100V |
probably benign |
Het |
| Slc35f3 |
T |
C |
8: 127,121,198 (GRCm39) |
V353A |
probably benign |
Het |
| Slfn3 |
A |
T |
11: 83,105,427 (GRCm39) |
T475S |
possibly damaging |
Het |
| Snrnp200 |
T |
A |
2: 127,071,085 (GRCm39) |
M1122K |
possibly damaging |
Het |
| Tead4 |
T |
A |
6: 128,219,444 (GRCm39) |
K223* |
probably null |
Het |
| Tfdp1 |
C |
T |
8: 13,420,485 (GRCm39) |
R105W |
probably damaging |
Het |
| Tfdp1 |
G |
T |
8: 13,427,233 (GRCm39) |
V393F |
possibly damaging |
Het |
| Thsd7b |
T |
C |
1: 129,358,644 (GRCm39) |
L26P |
probably damaging |
Het |
| Trim80 |
T |
C |
11: 115,332,027 (GRCm39) |
I73T |
probably damaging |
Het |
| Tssk4 |
T |
A |
14: 55,887,932 (GRCm39) |
Y43N |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,541,839 (GRCm39) |
T25389A |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,578,288 (GRCm39) |
F24202I |
probably damaging |
Het |
| Vmn1r177 |
A |
G |
7: 23,565,562 (GRCm39) |
S105P |
probably damaging |
Het |
| Vmn2r40 |
T |
A |
7: 8,911,203 (GRCm39) |
T697S |
probably benign |
Het |
| Zfp267 |
T |
A |
3: 36,219,601 (GRCm39) |
C541* |
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 |
|
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'- CAGTCTGTGATCCAGGTCAG -3'
(R):5'- AAGATGGACAAGTCATGCGTTC -3'
Sequencing Primer
(F):5'- CAGTCTGTGATCCAGGTCAGATACG -3'
(R):5'- GGACAAGTCATGCGTTCCGTTTC -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation