Incidental Mutation 'R4689:Tec'
ID |
354765 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tec
|
Ensembl Gene |
ENSMUSG00000029217 |
Gene Name |
tec protein tyrosine kinase |
Synonyms |
|
MMRRC Submission |
041940-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.077)
|
Stock # |
R4689 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
72913059-73025826 bp(-) (GRCm39) |
Type of Mutation |
start gained |
DNA Base Change (assembly) |
G to A
at 72980980 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144458
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071944]
[ENSMUST00000073843]
[ENSMUST00000113594]
[ENSMUST00000126481]
[ENSMUST00000138842]
[ENSMUST00000149533]
[ENSMUST00000202547]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000071944
|
SMART Domains |
Protein: ENSMUSP00000071836 Gene: ENSMUSG00000029217
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: ENSMUST00000073843
|
SMART Domains |
Protein: ENSMUSP00000073509 Gene: ENSMUSG00000029217
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 benign
Transcript: ENSMUST00000113594
|
SMART Domains |
Protein: ENSMUSP00000109224 Gene: ENSMUSG00000029217
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 |
noncoding transcript
Transcript: ENSMUST00000150193
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000202547
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.3%
|
Validation Efficiency |
97% (72/74) |
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: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc10 |
C |
A |
17: 46,634,996 (GRCm39) |
V336L |
probably benign |
Het |
Acbd4 |
T |
C |
11: 102,996,194 (GRCm39) |
L165P |
possibly damaging |
Het |
Adam10 |
T |
C |
9: 70,673,236 (GRCm39) |
S456P |
possibly damaging |
Het |
Adgre4 |
T |
C |
17: 56,109,096 (GRCm39) |
F368L |
probably damaging |
Het |
Ahcyl1 |
G |
T |
3: 107,572,834 (GRCm39) |
Y528* |
probably null |
Het |
Aldh3b3 |
G |
A |
19: 4,014,516 (GRCm39) |
V84M |
probably damaging |
Het |
Cdca8 |
C |
T |
4: 124,824,896 (GRCm39) |
G78E |
probably damaging |
Het |
Cry2 |
T |
C |
2: 92,254,899 (GRCm39) |
D152G |
probably benign |
Het |
Cyp2c67 |
T |
C |
19: 39,627,032 (GRCm39) |
Y266C |
probably benign |
Het |
Dkk4 |
T |
C |
8: 23,115,336 (GRCm39) |
F62S |
probably benign |
Het |
Dnah12 |
G |
A |
14: 26,427,994 (GRCm39) |
V207I |
probably benign |
Het |
Dthd1 |
T |
C |
5: 63,000,255 (GRCm39) |
C526R |
probably damaging |
Het |
Dubr |
A |
T |
16: 50,552,866 (GRCm39) |
|
noncoding transcript |
Het |
F5 |
T |
C |
1: 163,979,542 (GRCm39) |
|
probably benign |
Het |
Flcn |
A |
C |
11: 59,691,870 (GRCm39) |
W260G |
possibly damaging |
Het |
Fmnl1 |
G |
A |
11: 103,084,562 (GRCm39) |
|
probably null |
Het |
Frem2 |
A |
T |
3: 53,455,056 (GRCm39) |
D2173E |
probably benign |
Het |
Fstl4 |
C |
T |
11: 52,959,477 (GRCm39) |
Q173* |
probably null |
Het |
Gfra3 |
G |
A |
18: 34,823,640 (GRCm39) |
P381S |
unknown |
Het |
Gm28308 |
C |
A |
6: 52,190,291 (GRCm39) |
|
probably benign |
Het |
Gm8730 |
T |
A |
8: 103,592,379 (GRCm39) |
|
noncoding transcript |
Het |
Gzmd |
T |
C |
14: 56,368,683 (GRCm39) |
|
probably null |
Het |
Hexb |
A |
G |
13: 97,317,600 (GRCm39) |
Y366H |
probably damaging |
Het |
Hydin |
A |
T |
8: 111,322,046 (GRCm39) |
H4566L |
probably benign |
Het |
Ifi213 |
G |
A |
1: 173,417,986 (GRCm39) |
T142I |
possibly damaging |
Het |
Kif13b |
T |
A |
14: 65,010,513 (GRCm39) |
C1271S |
probably damaging |
Het |
Krtap9-5 |
G |
T |
11: 99,840,286 (GRCm39) |
C329F |
unknown |
Het |
Larp1 |
G |
T |
11: 57,932,439 (GRCm39) |
G207W |
probably damaging |
Het |
Lfng |
A |
G |
5: 140,600,194 (GRCm39) |
D368G |
probably damaging |
Het |
Mbd5 |
G |
A |
2: 49,148,291 (GRCm39) |
V834I |
possibly damaging |
Het |
Mterf1b |
T |
A |
5: 4,247,263 (GRCm39) |
Y301* |
probably null |
Het |
Myh7b |
T |
C |
2: 155,472,434 (GRCm39) |
I1305T |
possibly damaging |
Het |
Myo16 |
T |
C |
8: 10,488,890 (GRCm39) |
V687A |
probably damaging |
Het |
Naip2 |
A |
T |
13: 100,285,320 (GRCm39) |
I1292N |
probably damaging |
Het |
Nmral1 |
A |
G |
16: 4,532,422 (GRCm39) |
F130L |
probably damaging |
Het |
Nos1 |
A |
G |
5: 118,017,450 (GRCm39) |
N271S |
probably benign |
Het |
Nrap |
A |
G |
19: 56,374,458 (GRCm39) |
S23P |
probably damaging |
Het |
Or12d16-ps1 |
A |
T |
17: 37,705,662 (GRCm39) |
N77I |
probably damaging |
Het |
Or2aj4 |
A |
T |
16: 19,385,263 (GRCm39) |
Y123* |
probably null |
Het |
Or4e2 |
T |
C |
14: 52,688,671 (GRCm39) |
I267T |
probably benign |
Het |
Or6c210 |
T |
C |
10: 129,496,185 (GRCm39) |
V170A |
probably benign |
Het |
Pkdcc |
C |
G |
17: 83,523,290 (GRCm39) |
C132W |
probably damaging |
Het |
Plekhg6 |
G |
A |
6: 125,350,144 (GRCm39) |
L265F |
probably benign |
Het |
Prkaa1 |
A |
G |
15: 5,208,177 (GRCm39) |
T473A |
probably benign |
Het |
Prpf3 |
G |
A |
3: 95,743,801 (GRCm39) |
Q451* |
probably null |
Het |
Psma5-ps |
T |
A |
10: 85,150,065 (GRCm39) |
|
noncoding transcript |
Het |
Ptprh |
T |
A |
7: 4,600,996 (GRCm39) |
D127V |
possibly damaging |
Het |
Rab36 |
T |
C |
10: 74,877,765 (GRCm39) |
|
probably null |
Het |
Rasa1 |
A |
T |
13: 85,386,282 (GRCm39) |
Y427* |
probably null |
Het |
Rgs11 |
T |
C |
17: 26,423,521 (GRCm39) |
|
probably null |
Het |
Serpinb13 |
C |
T |
1: 106,910,574 (GRCm39) |
S66L |
probably damaging |
Het |
Shank2 |
G |
A |
7: 143,974,342 (GRCm39) |
V1087I |
probably benign |
Het |
Slc39a10 |
A |
C |
1: 46,875,173 (GRCm39) |
M43R |
probably benign |
Het |
Slc40a1 |
T |
A |
1: 45,951,473 (GRCm39) |
Q228L |
probably benign |
Het |
Slc45a1 |
A |
T |
4: 150,722,996 (GRCm39) |
L296Q |
probably benign |
Het |
Stambpl1 |
A |
G |
19: 34,213,691 (GRCm39) |
T307A |
probably benign |
Het |
Stt3a |
T |
C |
9: 36,644,225 (GRCm39) |
T705A |
possibly damaging |
Het |
Trp63 |
A |
T |
16: 25,684,012 (GRCm39) |
T300S |
possibly damaging |
Het |
Vmn1r235 |
A |
G |
17: 21,482,623 (GRCm39) |
H316R |
probably benign |
Het |
Vmn2r1 |
A |
G |
3: 64,012,074 (GRCm39) |
H645R |
possibly damaging |
Het |
Wdfy4 |
A |
G |
14: 32,831,505 (GRCm39) |
I907T |
possibly damaging |
Het |
Zcchc10 |
A |
G |
11: 53,218,151 (GRCm39) |
T33A |
probably benign |
Het |
Zfp318 |
T |
A |
17: 46,710,560 (GRCm39) |
V761D |
probably damaging |
Het |
Zfp358 |
T |
C |
8: 3,546,146 (GRCm39) |
|
probably null |
Het |
Zfp661 |
G |
A |
2: 127,419,468 (GRCm39) |
P224L |
probably damaging |
Het |
Zfp937 |
T |
C |
2: 150,078,706 (GRCm39) |
M33T |
probably damaging |
Het |
Zfp955a |
T |
C |
17: 33,461,040 (GRCm39) |
H364R |
probably damaging |
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 |
R1617:Tec
|
UTSW |
5 |
72,939,448 (GRCm39) |
missense |
probably damaging |
0.97 |
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 |
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'- CCCTCATAGTAGCTCAACACGG -3'
(R):5'- TCTGGAGTTCAAGTAGCAGAAG -3'
Sequencing Primer
(F):5'- CTCATAGTAGCTCAACACGGATTTTG -3'
(R):5'- GGCAGACATGTATCACCATCGTTATC -3'
|
Posted On |
2015-10-21 |