Incidental Mutation 'R1617:Tec'
ID |
174348 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tec
|
Ensembl Gene |
ENSMUSG00000029217 |
Gene Name |
tec protein tyrosine kinase |
Synonyms |
|
MMRRC Submission |
039654-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.077)
|
Stock # |
R1617 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
72913059-73025826 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 72939448 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Serine
at position 189
(F189S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000109224
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071944]
[ENSMUST00000073843]
[ENSMUST00000113594]
[ENSMUST00000126481]
[ENSMUST00000138842]
[ENSMUST00000149533]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000071944
AA Change: F189S
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000071836 Gene: ENSMUSG00000029217 AA Change: F189S
Domain | Start | End | E-Value | Type |
PH
|
5 |
113 |
2.13e-17 |
SMART |
BTK
|
113 |
149 |
1.79e-21 |
SMART |
low complexity region
|
158 |
177 |
N/A |
INTRINSIC |
SH3
|
181 |
237 |
7.06e-17 |
SMART |
SH2
|
244 |
335 |
4.05e-28 |
SMART |
TyrKc
|
369 |
618 |
2.13e-132 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000073843
AA Change: F189S
PolyPhen 2
Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000073509 Gene: ENSMUSG00000029217 AA Change: F189S
Domain | Start | End | E-Value | Type |
PH
|
5 |
113 |
2.13e-17 |
SMART |
BTK
|
113 |
149 |
1.79e-21 |
SMART |
low complexity region
|
158 |
177 |
N/A |
INTRINSIC |
SH3
|
181 |
230 |
2.85e-3 |
SMART |
SH2
|
222 |
313 |
9.96e-28 |
SMART |
TyrKc
|
347 |
596 |
2.13e-132 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000113594
AA Change: F189S
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000109224 Gene: ENSMUSG00000029217 AA Change: F189S
Domain | Start | End | E-Value | Type |
PH
|
5 |
113 |
2.13e-17 |
SMART |
BTK
|
113 |
149 |
1.79e-21 |
SMART |
low complexity region
|
158 |
177 |
N/A |
INTRINSIC |
SH3
|
181 |
237 |
7.06e-17 |
SMART |
SH2
|
244 |
335 |
4.05e-28 |
SMART |
TyrKc
|
369 |
618 |
2.13e-132 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000126481
|
SMART Domains |
Protein: ENSMUSP00000123606 Gene: ENSMUSG00000029217
Domain | Start | End | E-Value | Type |
PH
|
5 |
113 |
2.13e-17 |
SMART |
BTK
|
113 |
149 |
1.79e-21 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000138842
|
SMART Domains |
Protein: ENSMUSP00000120155 Gene: ENSMUSG00000029217
Domain | Start | End | E-Value | Type |
Pfam:PH
|
5 |
98 |
1.6e-10 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000149533
|
SMART Domains |
Protein: ENSMUSP00000123258 Gene: ENSMUSG00000029217
Domain | Start | End | E-Value | Type |
Pfam:PH
|
5 |
98 |
1.6e-10 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000155342
|
SMART Domains |
Protein: ENSMUSP00000118980 Gene: ENSMUSG00000029217
Domain | Start | End | E-Value | Type |
BTK
|
2 |
33 |
8.62e-15 |
SMART |
|
Meta Mutation Damage Score |
0.5792 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 95.8%
- 20x: 91.0%
|
Validation Efficiency |
98% (83/85) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the Tec family of non-receptor protein-tyrosine kinases containing a pleckstrin homology domain. Tec family kinases are involved in the intracellular signaling mechanisms of cytokine receptors, lymphocyte surface antigens, heterotrimeric G-protein coupled receptors, and integrin molecules. They are also key players in the regulation of the immune functions. Tec kinase is an integral component of T cell signaling and has a distinct role in T cell activation. This gene may be associated with myelodysplastic syndrome. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for a knock-out allele exhibit a minor reduction in platetet aggregation in response to threshold concentrations of collagen-related peptide or collagen. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 73 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4833420G17Rik |
T |
A |
13: 119,603,473 (GRCm39) |
I91K |
probably damaging |
Het |
AAdacl4fm3 |
T |
G |
4: 144,441,961 (GRCm39) |
T97P |
probably damaging |
Het |
Adamts16 |
T |
A |
13: 70,946,154 (GRCm39) |
M254L |
probably benign |
Het |
Adgre5 |
T |
C |
8: 84,456,806 (GRCm39) |
I192V |
possibly damaging |
Het |
Akr1c21 |
G |
A |
13: 4,626,351 (GRCm39) |
|
probably null |
Het |
Amz2 |
A |
G |
11: 109,324,850 (GRCm39) |
T245A |
probably benign |
Het |
Aqp7 |
A |
C |
4: 41,036,109 (GRCm39) |
M43R |
probably null |
Het |
Arid3c |
G |
A |
4: 41,725,103 (GRCm39) |
P315S |
probably damaging |
Het |
Birc2 |
A |
T |
9: 7,826,952 (GRCm39) |
Y345N |
possibly damaging |
Het |
Blnk |
T |
C |
19: 40,950,807 (GRCm39) |
T115A |
probably benign |
Het |
Col5a1 |
T |
C |
2: 27,842,393 (GRCm39) |
S423P |
unknown |
Het |
Corin |
A |
T |
5: 72,661,295 (GRCm39) |
F66Y |
possibly damaging |
Het |
Cpd |
A |
T |
11: 76,737,495 (GRCm39) |
W100R |
probably damaging |
Het |
Cpsf1 |
A |
T |
15: 76,486,570 (GRCm39) |
Y296* |
probably null |
Het |
Cyp2d34 |
T |
C |
15: 82,505,046 (GRCm39) |
T5A |
probably benign |
Het |
Dhrs7c |
G |
T |
11: 67,705,903 (GRCm39) |
V219L |
possibly damaging |
Het |
Dnah3 |
T |
C |
7: 119,689,169 (GRCm39) |
M82V |
probably benign |
Het |
Dnah9 |
A |
G |
11: 65,786,747 (GRCm39) |
S3629P |
probably damaging |
Het |
Fbrs |
T |
C |
7: 127,086,883 (GRCm39) |
L33P |
probably damaging |
Het |
Fhip1b |
A |
G |
7: 105,034,269 (GRCm39) |
L454P |
probably damaging |
Het |
Galnt11 |
T |
A |
5: 25,463,891 (GRCm39) |
S388T |
probably damaging |
Het |
Glmp |
A |
G |
3: 88,235,426 (GRCm39) |
|
probably benign |
Het |
Gm9894 |
A |
G |
13: 67,920,845 (GRCm39) |
|
noncoding transcript |
Het |
Grik3 |
A |
G |
4: 125,584,985 (GRCm39) |
M618V |
probably benign |
Het |
Hmcn1 |
T |
C |
1: 150,620,778 (GRCm39) |
D1144G |
probably damaging |
Het |
Hnrnpa2b1 |
T |
C |
6: 51,443,378 (GRCm39) |
K161R |
possibly damaging |
Het |
Kmt2c |
T |
C |
5: 25,580,925 (GRCm39) |
I523V |
probably benign |
Het |
Lmln |
C |
T |
16: 32,937,500 (GRCm39) |
P622S |
probably damaging |
Het |
Lmtk2 |
A |
G |
5: 144,110,680 (GRCm39) |
T467A |
probably damaging |
Het |
Map1s |
T |
A |
8: 71,366,095 (GRCm39) |
N333K |
probably damaging |
Het |
Mgat4d |
C |
A |
8: 84,092,340 (GRCm39) |
A242D |
probably damaging |
Het |
Muc5b |
T |
A |
7: 141,417,261 (GRCm39) |
Y3402* |
probably null |
Het |
Myo3b |
G |
T |
2: 70,111,562 (GRCm39) |
A922S |
probably benign |
Het |
Nphs1 |
T |
C |
7: 30,181,956 (GRCm39) |
V1183A |
probably benign |
Het |
Nup160 |
T |
A |
2: 90,509,843 (GRCm39) |
C31S |
probably benign |
Het |
Or4c58 |
T |
C |
2: 89,674,598 (GRCm39) |
T240A |
probably benign |
Het |
Or8k25 |
A |
T |
2: 86,244,035 (GRCm39) |
Y120* |
probably null |
Het |
Pcdhb5 |
T |
G |
18: 37,454,455 (GRCm39) |
Y278* |
probably null |
Het |
Pkhd1 |
T |
A |
1: 20,268,274 (GRCm39) |
E3368V |
possibly damaging |
Het |
Pla2g6 |
A |
G |
15: 79,173,341 (GRCm39) |
M676T |
probably benign |
Het |
Plcb1 |
A |
T |
2: 135,179,361 (GRCm39) |
N590Y |
probably damaging |
Het |
Prr12 |
G |
A |
7: 44,699,018 (GRCm39) |
|
probably benign |
Het |
Psat1 |
A |
G |
19: 15,901,666 (GRCm39) |
|
probably null |
Het |
Ptpn9 |
T |
G |
9: 56,934,692 (GRCm39) |
I152S |
possibly damaging |
Het |
Ric8b |
T |
A |
10: 84,783,475 (GRCm39) |
F111Y |
probably damaging |
Het |
Slc44a3 |
G |
A |
3: 121,254,914 (GRCm39) |
A568V |
probably benign |
Het |
Smarcd3 |
T |
G |
5: 24,800,192 (GRCm39) |
R213S |
probably damaging |
Het |
Snx13 |
T |
C |
12: 35,136,895 (GRCm39) |
Y119H |
probably damaging |
Het |
Socs2 |
C |
A |
10: 95,248,943 (GRCm39) |
E57* |
probably null |
Het |
Spred1 |
C |
T |
2: 117,005,828 (GRCm39) |
P197S |
probably benign |
Het |
Srek1 |
G |
T |
13: 103,880,112 (GRCm39) |
P482Q |
unknown |
Het |
Tapbp |
A |
G |
17: 34,139,405 (GRCm39) |
T134A |
probably benign |
Het |
Tarbp1 |
T |
C |
8: 127,171,007 (GRCm39) |
I998V |
possibly damaging |
Het |
Tbcel |
G |
T |
9: 42,372,589 (GRCm39) |
|
probably benign |
Het |
Tmprss11g |
A |
T |
5: 86,647,422 (GRCm39) |
Y39N |
probably damaging |
Het |
Tmtc1 |
A |
G |
6: 148,256,902 (GRCm39) |
|
probably benign |
Het |
Trpa1 |
A |
G |
1: 14,943,899 (GRCm39) |
I1070T |
probably damaging |
Het |
Trpm2 |
T |
A |
10: 77,771,709 (GRCm39) |
|
probably null |
Het |
Ttc21b |
G |
T |
2: 66,056,379 (GRCm39) |
T669K |
probably benign |
Het |
Ttll4 |
G |
A |
1: 74,718,560 (GRCm39) |
R137H |
probably benign |
Het |
Ubqln3 |
G |
T |
7: 103,792,067 (GRCm39) |
L8I |
possibly damaging |
Het |
Ung |
C |
A |
5: 114,269,415 (GRCm39) |
N42K |
probably benign |
Het |
Upp1 |
T |
C |
11: 9,084,865 (GRCm39) |
S195P |
probably damaging |
Het |
Urb1 |
T |
C |
16: 90,557,340 (GRCm39) |
E1762G |
possibly damaging |
Het |
Utp11 |
T |
C |
4: 124,579,904 (GRCm39) |
K35E |
probably damaging |
Het |
Vav3 |
A |
T |
3: 109,418,294 (GRCm39) |
K305I |
probably damaging |
Het |
Vmn1r197 |
A |
G |
13: 22,512,498 (GRCm39) |
I140V |
possibly damaging |
Het |
Vmn2r-ps158 |
A |
G |
7: 42,673,503 (GRCm39) |
E187G |
probably benign |
Het |
Zfc3h1 |
A |
G |
10: 115,226,827 (GRCm39) |
T295A |
probably benign |
Het |
Zfp268 |
A |
T |
4: 145,350,877 (GRCm39) |
|
probably benign |
Het |
Zfp46 |
T |
C |
4: 136,017,823 (GRCm39) |
L219P |
probably damaging |
Het |
Zfp493 |
G |
A |
13: 67,931,999 (GRCm39) |
V33M |
probably damaging |
Het |
Zfp92 |
T |
C |
X: 72,463,466 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Tec |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00230:Tec
|
APN |
5 |
72,926,111 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00980:Tec
|
APN |
5 |
72,944,141 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01986:Tec
|
APN |
5 |
72,939,348 (GRCm39) |
nonsense |
probably null |
|
IGL02505:Tec
|
APN |
5 |
72,946,587 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02522:Tec
|
APN |
5 |
72,946,515 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02527:Tec
|
APN |
5 |
72,936,758 (GRCm39) |
splice site |
probably null |
|
IGL03292:Tec
|
APN |
5 |
72,914,707 (GRCm39) |
missense |
probably null |
0.98 |
development
|
UTSW |
5 |
72,939,520 (GRCm39) |
critical splice acceptor site |
probably null |
|
technocrat
|
UTSW |
5 |
72,939,355 (GRCm39) |
missense |
probably null |
0.98 |
IGL02988:Tec
|
UTSW |
5 |
72,926,090 (GRCm39) |
missense |
possibly damaging |
0.95 |
PIT4696001:Tec
|
UTSW |
5 |
72,931,178 (GRCm39) |
missense |
possibly damaging |
0.73 |
R0254:Tec
|
UTSW |
5 |
72,941,081 (GRCm39) |
missense |
probably benign |
0.12 |
R0254:Tec
|
UTSW |
5 |
72,920,899 (GRCm39) |
splice site |
probably benign |
|
R0646:Tec
|
UTSW |
5 |
72,980,840 (GRCm39) |
missense |
probably damaging |
1.00 |
R1122:Tec
|
UTSW |
5 |
72,936,792 (GRCm39) |
missense |
probably damaging |
0.96 |
R1495:Tec
|
UTSW |
5 |
72,944,098 (GRCm39) |
missense |
probably damaging |
1.00 |
R3905:Tec
|
UTSW |
5 |
72,917,705 (GRCm39) |
missense |
probably damaging |
1.00 |
R3953:Tec
|
UTSW |
5 |
72,939,520 (GRCm39) |
critical splice acceptor site |
probably null |
|
R3954:Tec
|
UTSW |
5 |
72,939,520 (GRCm39) |
critical splice acceptor site |
probably null |
|
R3955:Tec
|
UTSW |
5 |
72,939,520 (GRCm39) |
critical splice acceptor site |
probably null |
|
R3981:Tec
|
UTSW |
5 |
72,980,942 (GRCm39) |
utr 5 prime |
probably benign |
|
R4061:Tec
|
UTSW |
5 |
72,980,752 (GRCm39) |
unclassified |
probably benign |
|
R4389:Tec
|
UTSW |
5 |
72,939,350 (GRCm39) |
missense |
probably benign |
|
R4507:Tec
|
UTSW |
5 |
72,917,701 (GRCm39) |
missense |
probably damaging |
1.00 |
R4689:Tec
|
UTSW |
5 |
72,980,980 (GRCm39) |
start gained |
probably benign |
|
R4702:Tec
|
UTSW |
5 |
72,941,074 (GRCm39) |
missense |
possibly damaging |
0.71 |
R4776:Tec
|
UTSW |
5 |
72,926,119 (GRCm39) |
missense |
probably benign |
0.38 |
R4911:Tec
|
UTSW |
5 |
72,913,694 (GRCm39) |
missense |
probably benign |
0.05 |
R4923:Tec
|
UTSW |
5 |
72,939,365 (GRCm39) |
nonsense |
probably null |
|
R4932:Tec
|
UTSW |
5 |
72,917,736 (GRCm39) |
nonsense |
probably null |
|
R5595:Tec
|
UTSW |
5 |
72,926,087 (GRCm39) |
missense |
possibly damaging |
0.91 |
R7211:Tec
|
UTSW |
5 |
72,939,355 (GRCm39) |
missense |
probably null |
0.98 |
R7404:Tec
|
UTSW |
5 |
72,920,961 (GRCm39) |
missense |
probably damaging |
1.00 |
R7465:Tec
|
UTSW |
5 |
72,931,223 (GRCm39) |
missense |
probably damaging |
1.00 |
R7526:Tec
|
UTSW |
5 |
72,943,362 (GRCm39) |
missense |
probably benign |
|
R7548:Tec
|
UTSW |
5 |
72,917,693 (GRCm39) |
missense |
probably damaging |
1.00 |
R7699:Tec
|
UTSW |
5 |
72,943,367 (GRCm39) |
missense |
possibly damaging |
0.60 |
R7700:Tec
|
UTSW |
5 |
72,943,367 (GRCm39) |
missense |
possibly damaging |
0.60 |
R8021:Tec
|
UTSW |
5 |
72,914,812 (GRCm39) |
missense |
probably benign |
0.03 |
R8217:Tec
|
UTSW |
5 |
72,921,602 (GRCm39) |
missense |
probably benign |
0.13 |
R8704:Tec
|
UTSW |
5 |
72,926,105 (GRCm39) |
missense |
probably damaging |
1.00 |
R9287:Tec
|
UTSW |
5 |
72,926,117 (GRCm39) |
missense |
probably damaging |
1.00 |
R9731:Tec
|
UTSW |
5 |
72,939,439 (GRCm39) |
missense |
probably benign |
0.01 |
Z1177:Tec
|
UTSW |
5 |
72,939,358 (GRCm39) |
missense |
possibly damaging |
0.90 |
Z1177:Tec
|
UTSW |
5 |
72,926,050 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CCCCTCACGATGCTGCAAATTCAG -3'
(R):5'- TTCCAACAGCACCAGCCTTGTC -3'
Sequencing Primer
(F):5'- AGCTGGACTAAGTCTGTTGTAAGC -3'
(R):5'- ACCAGCCTTGTCGTGGAG -3'
|
Posted On |
2014-04-24 |