Incidental Mutation 'R9405:Tex2'
ID |
711481 |
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 # |
R9405 (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 106435214 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Arginine
at position 737
(S737R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000041985
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042780]
[ENSMUST00000103070]
|
AlphaFold |
Q6ZPJ0 |
Predicted Effect |
unknown
Transcript: ENSMUST00000042780
AA Change: S737R
|
SMART Domains |
Protein: ENSMUSP00000041985 Gene: ENSMUSG00000040548 AA Change: S737R
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: S737R
|
SMART Domains |
Protein: ENSMUSP00000099359 Gene: ENSMUSG00000040548 AA Change: S737R
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: ENSMUST00000207249
AA Change: S239R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acaa1b |
T |
A |
9: 118,978,506 (GRCm39) |
Q277L |
probably damaging |
Het |
Adamts18 |
A |
G |
8: 114,430,030 (GRCm39) |
V1135A |
probably damaging |
Het |
Apobr |
A |
G |
7: 126,184,704 (GRCm39) |
S72G |
possibly damaging |
Het |
Arl13b |
T |
A |
16: 62,632,260 (GRCm39) |
Q214L |
possibly damaging |
Het |
Armt1 |
AC |
A |
10: 4,400,848 (GRCm39) |
|
probably null |
Het |
Asah2 |
T |
G |
19: 31,986,045 (GRCm39) |
T542P |
possibly damaging |
Het |
Asns |
C |
T |
6: 7,689,283 (GRCm39) |
C73Y |
probably damaging |
Het |
Calhm2 |
T |
A |
19: 47,124,108 (GRCm39) |
T79S |
probably benign |
Het |
Cd300c2 |
T |
G |
11: 114,891,587 (GRCm39) |
T96P |
probably damaging |
Het |
Copb1 |
G |
A |
7: 113,822,458 (GRCm39) |
T757I |
possibly damaging |
Het |
Csmd3 |
T |
A |
15: 47,539,187 (GRCm39) |
T1517S |
|
Het |
Ddx60 |
T |
A |
8: 62,425,248 (GRCm39) |
L679M |
probably benign |
Het |
Dip2b |
A |
G |
15: 100,093,757 (GRCm39) |
K1123R |
probably benign |
Het |
Dnah17 |
A |
G |
11: 118,009,737 (GRCm39) |
S612P |
probably benign |
Het |
Dnah5 |
T |
A |
15: 28,272,306 (GRCm39) |
C1037S |
probably benign |
Het |
Efcab5 |
G |
A |
11: 77,022,934 (GRCm39) |
T593I |
probably damaging |
Het |
Ei24 |
A |
T |
9: 36,694,137 (GRCm39) |
I244N |
possibly damaging |
Het |
Epb41l4a |
C |
A |
18: 33,943,271 (GRCm39) |
|
probably null |
Het |
Fam83b |
A |
G |
9: 76,398,703 (GRCm39) |
M800T |
possibly damaging |
Het |
Fcf1 |
T |
G |
12: 85,021,013 (GRCm39) |
C98G |
probably benign |
Het |
H2bc3 |
T |
C |
13: 23,931,141 (GRCm39) |
Y122H |
probably benign |
Het |
Hltf |
G |
T |
3: 20,137,094 (GRCm39) |
Q417H |
possibly damaging |
Het |
Hmg20b |
T |
C |
10: 81,185,258 (GRCm39) |
S35G |
probably benign |
Het |
Igkv4-57-1 |
T |
G |
6: 69,521,525 (GRCm39) |
Y59S |
probably damaging |
Het |
Irs2 |
C |
T |
8: 11,055,061 (GRCm39) |
V1124I |
possibly damaging |
Het |
Kprp |
A |
G |
3: 92,731,560 (GRCm39) |
C497R |
unknown |
Het |
Krt15 |
A |
T |
11: 100,022,961 (GRCm39) |
V418E |
probably benign |
Het |
Lce1e |
G |
A |
3: 92,615,312 (GRCm39) |
P12S |
unknown |
Het |
Lsmem1 |
T |
C |
12: 40,227,113 (GRCm39) |
D124G |
probably damaging |
Het |
Morc3 |
T |
C |
16: 93,642,036 (GRCm39) |
F85S |
probably damaging |
Het |
Mtnr1b |
A |
T |
9: 15,774,447 (GRCm39) |
V204E |
possibly damaging |
Het |
Myo7b |
C |
T |
18: 32,109,356 (GRCm39) |
A1172T |
probably benign |
Het |
Nbeal1 |
T |
A |
1: 60,349,424 (GRCm39) |
I2362N |
probably damaging |
Het |
Nde1 |
T |
G |
16: 14,006,255 (GRCm39) |
L261R |
probably damaging |
Het |
Neurl1b |
A |
G |
17: 26,658,265 (GRCm39) |
D401G |
probably benign |
Het |
Nfkb2 |
T |
C |
19: 46,296,839 (GRCm39) |
V303A |
probably damaging |
Het |
Nlrc5 |
C |
T |
8: 95,199,652 (GRCm39) |
P88S |
probably damaging |
Het |
Or10ad1b |
T |
A |
15: 98,124,912 (GRCm39) |
I207F |
possibly damaging |
Het |
Or4k36 |
T |
A |
2: 111,146,460 (GRCm39) |
I212K |
possibly damaging |
Het |
Or6c203 |
T |
A |
10: 129,010,165 (GRCm39) |
M242L |
probably benign |
Het |
Pde1c |
T |
A |
6: 56,049,199 (GRCm39) |
K705* |
probably null |
Het |
Pear1 |
A |
T |
3: 87,659,890 (GRCm39) |
F699I |
probably damaging |
Het |
Peg10 |
CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG |
CCACATCAGGATCCACATCAGGATGCACATCAG |
6: 4,756,398 (GRCm39) |
|
probably benign |
Het |
Prickle1 |
A |
T |
15: 93,400,861 (GRCm39) |
L541* |
probably null |
Het |
Prss39 |
G |
A |
1: 34,538,344 (GRCm39) |
G70S |
probably damaging |
Het |
Prune2 |
T |
G |
19: 17,193,708 (GRCm39) |
N3065K |
probably damaging |
Het |
Qrfprl |
T |
A |
6: 65,433,078 (GRCm39) |
N299K |
probably benign |
Het |
Rdh5 |
A |
C |
10: 128,753,937 (GRCm39) |
D127E |
probably benign |
Het |
Ryr3 |
G |
A |
2: 112,664,612 (GRCm39) |
H1580Y |
probably damaging |
Het |
Sash1 |
G |
A |
10: 8,637,994 (GRCm39) |
|
probably benign |
Het |
Scgb3a2 |
T |
A |
18: 43,900,129 (GRCm39) |
L139Q |
possibly damaging |
Het |
Six1 |
A |
G |
12: 73,093,095 (GRCm39) |
S36P |
probably damaging |
Het |
Slc30a5 |
T |
C |
13: 100,950,416 (GRCm39) |
I281V |
probably benign |
Het |
Snai2 |
T |
A |
16: 14,524,589 (GRCm39) |
Y32N |
probably benign |
Het |
Stat2 |
T |
C |
10: 128,114,634 (GRCm39) |
S244P |
probably damaging |
Het |
Syne1 |
A |
G |
10: 5,152,030 (GRCm39) |
I5759T |
probably damaging |
Het |
Tbc1d23 |
T |
C |
16: 57,012,985 (GRCm39) |
N329S |
possibly damaging |
Het |
Trav13d-3 |
G |
A |
14: 53,270,715 (GRCm39) |
R59H |
probably benign |
Het |
Tspan9 |
C |
T |
6: 127,944,124 (GRCm39) |
A59T |
probably benign |
Het |
Usp53 |
G |
A |
3: 122,746,918 (GRCm39) |
A349V |
probably damaging |
Het |
Vmn1r188 |
T |
C |
13: 22,272,898 (GRCm39) |
L284P |
probably damaging |
Het |
Vmn2r85 |
T |
C |
10: 130,261,215 (GRCm39) |
N374S |
probably damaging |
Het |
Zfp622 |
A |
T |
15: 25,985,035 (GRCm39) |
I134F |
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 |
|
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 |
|
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'- TACCTTCTTCGAAGCTGTGGG -3'
(R):5'- CATTCCAGAATTACCTTGGAGAAC -3'
Sequencing Primer
(F):5'- TCGAAGCTGTGGGGCTGC -3'
(R):5'- AAAGTCACCTATTGTTAGAACAGAAG -3'
|
Posted On |
2022-05-16 |