Incidental Mutation 'R7465:Tex14'
| ID |
578716 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tex14
|
| Ensembl Gene |
ENSMUSG00000010342 |
| Gene Name |
testis expressed gene 14 |
| Synonyms |
|
| MMRRC Submission |
045539-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.159)
|
| Stock # |
R7465 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
87295891-87446649 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 87405256 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 723
(S723P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000054444
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060835]
|
| AlphaFold |
Q7M6U3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000060835
AA Change: S723P
PolyPhen 2
Score 0.482 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000054444
Gene: ENSMUSG00000010342
AA Change: S723P
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
22 |
51 |
7.99e2 |
SMART |
|
ANK
|
55 |
84 |
6.36e-3 |
SMART |
|
ANK
|
88 |
117 |
3.49e0 |
SMART |
|
Pfam:Pkinase
|
251 |
504 |
3.5e-19 |
PFAM |
|
Pfam:Pkinase_Tyr
|
254 |
503 |
8.1e-28 |
PFAM |
|
coiled coil region
|
659 |
684 |
N/A |
INTRINSIC |
|
coiled coil region
|
740 |
776 |
N/A |
INTRINSIC |
|
low complexity region
|
1219 |
1236 |
N/A |
INTRINSIC |
|
coiled coil region
|
1289 |
1309 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0799 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (59/59) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is necessary for intercellular bridges in germ cells, which are required for spermatogenesis. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2011]
PHENOTYPE: Males homozygous for a targeted allele are infertile due to spermatogenic failure. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agtr1a |
A |
T |
13: 30,565,964 (GRCm39) |
D343V |
probably benign |
Het |
| Anks1 |
G |
A |
17: 28,273,297 (GRCm39) |
R972Q |
possibly damaging |
Het |
| Atp2a2 |
T |
C |
5: 122,599,763 (GRCm39) |
K543E |
probably benign |
Het |
| Atp8b5 |
G |
A |
4: 43,271,269 (GRCm39) |
V4I |
probably benign |
Het |
| Bcar3 |
A |
T |
3: 122,316,879 (GRCm39) |
N617Y |
probably benign |
Het |
| Blm |
A |
G |
7: 80,162,863 (GRCm39) |
S163P |
probably benign |
Het |
| Cbx3 |
A |
G |
6: 51,455,510 (GRCm39) |
D87G |
probably benign |
Het |
| Celsr1 |
A |
G |
15: 85,917,593 (GRCm39) |
S127P |
probably benign |
Het |
| Cndp1 |
A |
T |
18: 84,637,666 (GRCm39) |
M356K |
probably damaging |
Het |
| Cnn2 |
G |
A |
10: 79,828,361 (GRCm39) |
E113K |
probably damaging |
Het |
| Col17a1 |
T |
A |
19: 47,656,544 (GRCm39) |
R573* |
probably null |
Het |
| Cttnbp2 |
T |
A |
6: 18,501,991 (GRCm39) |
E49V |
probably damaging |
Het |
| Dipk1a |
T |
C |
5: 108,057,550 (GRCm39) |
D336G |
probably damaging |
Het |
| Dynlrb2 |
T |
A |
8: 117,241,696 (GRCm39) |
V80E |
possibly damaging |
Het |
| Ehbp1 |
A |
G |
11: 22,088,001 (GRCm39) |
V386A |
probably benign |
Het |
| Elfn1 |
C |
T |
5: 139,957,842 (GRCm39) |
P282L |
probably benign |
Het |
| Fan1 |
G |
A |
7: 64,003,386 (GRCm39) |
T812I |
probably benign |
Het |
| Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
| Fat1 |
G |
A |
8: 45,497,189 (GRCm39) |
V4225I |
probably benign |
Het |
| Frem1 |
A |
G |
4: 82,833,072 (GRCm39) |
C1873R |
probably benign |
Het |
| Fsd1l |
T |
C |
4: 53,647,755 (GRCm39) |
I66T |
probably benign |
Het |
| Gabrr1 |
C |
A |
4: 33,146,970 (GRCm39) |
D52E |
probably benign |
Het |
| Il18rap |
T |
C |
1: 40,582,249 (GRCm39) |
L390P |
probably damaging |
Het |
| Il27ra |
T |
A |
8: 84,766,241 (GRCm39) |
D181V |
probably benign |
Het |
| Irgq |
C |
A |
7: 24,233,834 (GRCm39) |
H558Q |
probably damaging |
Het |
| Itsn2 |
C |
T |
12: 4,756,983 (GRCm39) |
Q1358* |
probably null |
Het |
| Kmt2c |
C |
T |
5: 25,507,847 (GRCm39) |
G3197S |
probably damaging |
Het |
| Lrrk2 |
A |
G |
15: 91,651,543 (GRCm39) |
Y1733C |
probably damaging |
Het |
| Mapk7 |
G |
A |
11: 61,381,279 (GRCm39) |
A510V |
probably damaging |
Het |
| Mtch1 |
A |
T |
17: 29,551,698 (GRCm39) |
C385S |
probably benign |
Het |
| Nfib |
A |
G |
4: 82,271,758 (GRCm39) |
|
probably null |
Het |
| Nostrin |
C |
T |
2: 69,015,851 (GRCm39) |
T448M |
possibly damaging |
Het |
| Or12j4 |
T |
A |
7: 140,046,711 (GRCm39) |
V199D |
probably damaging |
Het |
| Or4c12b |
T |
C |
2: 89,646,880 (GRCm39) |
L64P |
probably damaging |
Het |
| Or52e18 |
A |
G |
7: 104,609,124 (GRCm39) |
Y272H |
probably benign |
Het |
| Or5a3 |
T |
A |
19: 12,400,509 (GRCm39) |
Y279N |
probably damaging |
Het |
| Or5an10 |
T |
C |
19: 12,275,801 (GRCm39) |
I232V |
probably benign |
Het |
| Or8k28 |
A |
G |
2: 86,286,150 (GRCm39) |
V155A |
probably benign |
Het |
| Pcdha2 |
T |
C |
18: 37,073,383 (GRCm39) |
V338A |
probably damaging |
Het |
| Pcdhgc3 |
A |
G |
18: 37,940,798 (GRCm39) |
T400A |
probably benign |
Het |
| Piezo2 |
C |
T |
18: 63,145,794 (GRCm39) |
S2710N |
probably benign |
Het |
| Ppp4r1 |
T |
A |
17: 66,138,015 (GRCm39) |
Y591* |
probably null |
Het |
| Ptpn18 |
G |
A |
1: 34,512,445 (GRCm39) |
D417N |
possibly damaging |
Het |
| Rab42 |
T |
C |
4: 132,029,925 (GRCm39) |
E99G |
possibly damaging |
Het |
| Rd3l |
A |
T |
12: 111,945,916 (GRCm39) |
W188R |
probably damaging |
Het |
| Sap30bp |
A |
G |
11: 115,842,794 (GRCm39) |
D89G |
probably benign |
Het |
| Sptbn4 |
T |
C |
7: 27,066,114 (GRCm39) |
T1985A |
probably benign |
Het |
| Tec |
T |
C |
5: 72,931,223 (GRCm39) |
Y247C |
probably damaging |
Het |
| Tek |
G |
A |
4: 94,716,063 (GRCm39) |
|
probably null |
Het |
| Thumpd3 |
T |
A |
6: 113,024,592 (GRCm39) |
L62Q |
probably damaging |
Het |
| Tlr12 |
A |
T |
4: 128,509,963 (GRCm39) |
D762E |
probably damaging |
Het |
| Tmem94 |
G |
T |
11: 115,677,082 (GRCm39) |
R118L |
possibly damaging |
Het |
| Txndc16 |
T |
A |
14: 45,402,845 (GRCm39) |
I316F |
probably damaging |
Het |
| Vamp1 |
T |
C |
6: 125,195,538 (GRCm39) |
S2P |
unknown |
Het |
| Vmn1r211 |
T |
A |
13: 23,036,086 (GRCm39) |
M194L |
probably benign |
Het |
| Zfp874a |
T |
A |
13: 67,590,376 (GRCm39) |
Q436L |
probably damaging |
Het |
|
| Other mutations in Tex14 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00272:Tex14
|
APN |
11 |
87,426,469 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL00494:Tex14
|
APN |
11 |
87,446,310 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01604:Tex14
|
APN |
11 |
87,400,524 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
IGL02690:Tex14
|
APN |
11 |
87,377,100 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL02888:Tex14
|
APN |
11 |
87,418,738 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03073:Tex14
|
APN |
11 |
87,426,435 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03109:Tex14
|
APN |
11 |
87,434,191 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03047:Tex14
|
UTSW |
11 |
87,427,530 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0141:Tex14
|
UTSW |
11 |
87,383,857 (GRCm39) |
splice site |
probably null |
|
|
R0455:Tex14
|
UTSW |
11 |
87,405,131 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0624:Tex14
|
UTSW |
11 |
87,411,525 (GRCm39) |
missense |
probably benign |
0.19 |
|
R0718:Tex14
|
UTSW |
11 |
87,390,439 (GRCm39) |
missense |
probably benign |
0.20 |
|
R1077:Tex14
|
UTSW |
11 |
87,410,571 (GRCm39) |
splice site |
probably benign |
|
|
R1118:Tex14
|
UTSW |
11 |
87,413,343 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1120:Tex14
|
UTSW |
11 |
87,429,502 (GRCm39) |
splice site |
probably benign |
|
|
R1168:Tex14
|
UTSW |
11 |
87,427,568 (GRCm39) |
missense |
probably benign |
0.11 |
|
R1190:Tex14
|
UTSW |
11 |
87,385,934 (GRCm39) |
splice site |
probably null |
|
|
R1470:Tex14
|
UTSW |
11 |
87,440,355 (GRCm39) |
splice site |
probably benign |
|
|
R1563:Tex14
|
UTSW |
11 |
87,427,634 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1607:Tex14
|
UTSW |
11 |
87,445,754 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1696:Tex14
|
UTSW |
11 |
87,402,371 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R1873:Tex14
|
UTSW |
11 |
87,390,431 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1894:Tex14
|
UTSW |
11 |
87,365,274 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1911:Tex14
|
UTSW |
11 |
87,385,861 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1955:Tex14
|
UTSW |
11 |
87,400,447 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1971:Tex14
|
UTSW |
11 |
87,402,431 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1990:Tex14
|
UTSW |
11 |
87,440,296 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1991:Tex14
|
UTSW |
11 |
87,440,296 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1993:Tex14
|
UTSW |
11 |
87,427,581 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R2106:Tex14
|
UTSW |
11 |
87,377,076 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R2118:Tex14
|
UTSW |
11 |
87,410,569 (GRCm39) |
splice site |
probably benign |
|
|
R2860:Tex14
|
UTSW |
11 |
87,365,243 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2861:Tex14
|
UTSW |
11 |
87,365,243 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4016:Tex14
|
UTSW |
11 |
87,429,449 (GRCm39) |
splice site |
probably null |
|
|
R4089:Tex14
|
UTSW |
11 |
87,403,029 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4158:Tex14
|
UTSW |
11 |
87,407,595 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4533:Tex14
|
UTSW |
11 |
87,427,655 (GRCm39) |
nonsense |
probably null |
|
|
R4713:Tex14
|
UTSW |
11 |
87,427,691 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4758:Tex14
|
UTSW |
11 |
87,405,311 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4880:Tex14
|
UTSW |
11 |
87,377,121 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4953:Tex14
|
UTSW |
11 |
87,427,727 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5092:Tex14
|
UTSW |
11 |
87,405,668 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5119:Tex14
|
UTSW |
11 |
87,324,639 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5322:Tex14
|
UTSW |
11 |
87,402,298 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5470:Tex14
|
UTSW |
11 |
87,442,430 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5607:Tex14
|
UTSW |
11 |
87,413,404 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5642:Tex14
|
UTSW |
11 |
87,405,046 (GRCm39) |
missense |
probably benign |
|
|
R5643:Tex14
|
UTSW |
11 |
87,426,452 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5786:Tex14
|
UTSW |
11 |
87,405,121 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6478:Tex14
|
UTSW |
11 |
87,405,199 (GRCm39) |
missense |
probably benign |
|
|
R6560:Tex14
|
UTSW |
11 |
87,388,688 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6661:Tex14
|
UTSW |
11 |
87,385,842 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7037:Tex14
|
UTSW |
11 |
87,388,741 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7156:Tex14
|
UTSW |
11 |
87,375,545 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7675:Tex14
|
UTSW |
11 |
87,400,504 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7725:Tex14
|
UTSW |
11 |
87,385,868 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7911:Tex14
|
UTSW |
11 |
87,424,428 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8015:Tex14
|
UTSW |
11 |
87,400,426 (GRCm39) |
missense |
probably benign |
0.13 |
|
R8226:Tex14
|
UTSW |
11 |
87,375,585 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8283:Tex14
|
UTSW |
11 |
87,365,241 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8292:Tex14
|
UTSW |
11 |
87,388,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8833:Tex14
|
UTSW |
11 |
87,383,878 (GRCm39) |
missense |
probably benign |
0.22 |
|
R8932:Tex14
|
UTSW |
11 |
87,324,675 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R9023:Tex14
|
UTSW |
11 |
87,365,239 (GRCm39) |
missense |
|
|
|
R9144:Tex14
|
UTSW |
11 |
87,413,423 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9610:Tex14
|
UTSW |
11 |
87,377,084 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9611:Tex14
|
UTSW |
11 |
87,377,084 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF018:Tex14
|
UTSW |
11 |
87,405,572 (GRCm39) |
missense |
probably benign |
0.01 |
|
X0017:Tex14
|
UTSW |
11 |
87,426,375 (GRCm39) |
nonsense |
probably null |
|
|
Z1176:Tex14
|
UTSW |
11 |
87,390,419 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
Z1176:Tex14
|
UTSW |
11 |
87,375,633 (GRCm39) |
missense |
probably benign |
0.08 |
|
Z1177:Tex14
|
UTSW |
11 |
87,404,981 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGACACTGGGAACTGACAAGG -3'
(R):5'- ATGAAGCATCCCGCAAACTG -3'
Sequencing Primer
(F):5'- CATCCCTGGAAGAAGAGCTCG -3'
(R):5'- GCAAACTGCTGCACTGACTGTC -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation