Incidental Mutation 'R2423:Tnk1'
| ID |
249447 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tnk1
|
| Ensembl Gene |
ENSMUSG00000001583 |
| Gene Name |
tyrosine kinase, non-receptor, 1 |
| Synonyms |
Tnk1b, Tnk1a, Kos1 |
| MMRRC Submission |
040385-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2423 (G1)
|
| Quality Score |
216 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
69741831-69749556 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 69746587 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Proline
at position 209
(T209P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104268
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001626]
[ENSMUST00000019605]
[ENSMUST00000108626]
[ENSMUST00000108628]
[ENSMUST00000108632]
[ENSMUST00000108633]
[ENSMUST00000125571]
[ENSMUST00000156507]
|
| AlphaFold |
Q99ML2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000001626
AA Change: T209P
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000001626
Gene: ENSMUSG00000001583
AA Change: T209P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
15 |
N/A |
INTRINSIC |
|
Blast:TyrKc
|
43 |
80 |
1e-5 |
BLAST |
|
TyrKc
|
116 |
378 |
1.2e-108 |
SMART |
|
SH3
|
384 |
440 |
4.11e-1 |
SMART |
|
low complexity region
|
504 |
517 |
N/A |
INTRINSIC |
|
low complexity region
|
528 |
544 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000019605
|
| SMART Domains |
Protein: ENSMUSP00000019605
Gene: ENSMUSG00000019461
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
28 |
N/A |
INTRINSIC |
|
low complexity region
|
32 |
49 |
N/A |
INTRINSIC |
|
Pfam:Scramblase
|
63 |
285 |
1.7e-88 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000108626
AA Change: T209P
PolyPhen 2
Score 0.852 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000104266
Gene: ENSMUSG00000001583
AA Change: T209P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
15 |
N/A |
INTRINSIC |
|
Blast:TyrKc
|
43 |
80 |
6e-6 |
BLAST |
|
TyrKc
|
116 |
378 |
1.2e-108 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108628
AA Change: T209P
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000104268
Gene: ENSMUSG00000001583
AA Change: T209P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
15 |
N/A |
INTRINSIC |
|
Blast:TyrKc
|
43 |
80 |
1e-5 |
BLAST |
|
TyrKc
|
116 |
378 |
1.2e-108 |
SMART |
|
SH3
|
384 |
445 |
6.1e-1 |
SMART |
|
low complexity region
|
509 |
522 |
N/A |
INTRINSIC |
|
low complexity region
|
533 |
549 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108632
|
| SMART Domains |
Protein: ENSMUSP00000104272
Gene: ENSMUSG00000019461
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
28 |
N/A |
INTRINSIC |
|
low complexity region
|
32 |
49 |
N/A |
INTRINSIC |
|
Pfam:Scramblase
|
63 |
285 |
1.7e-88 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108633
|
| SMART Domains |
Protein: ENSMUSP00000104273
Gene: ENSMUSG00000019461
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
28 |
N/A |
INTRINSIC |
|
low complexity region
|
32 |
49 |
N/A |
INTRINSIC |
|
Pfam:Scramblase
|
63 |
285 |
1.7e-88 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000125571
AA Change: T209P
PolyPhen 2
Score 0.739 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000118490
Gene: ENSMUSG00000001583
AA Change: T209P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
15 |
N/A |
INTRINSIC |
|
Blast:TyrKc
|
43 |
72 |
2e-6 |
BLAST |
|
Pfam:Pkinase
|
116 |
268 |
3.3e-21 |
PFAM |
|
Pfam:Pkinase_Tyr
|
116 |
268 |
1.9e-37 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156507
|
| SMART Domains |
Protein: ENSMUSP00000120585
Gene: ENSMUSG00000001583
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase_Tyr
|
1 |
76 |
8.4e-17 |
PFAM |
|
Pfam:Pkinase
|
1 |
97 |
1.2e-6 |
PFAM |
|
low complexity region
|
127 |
140 |
N/A |
INTRINSIC |
|
low complexity region
|
151 |
167 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
| Validation Efficiency |
|
| 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 tyrosine protein kinase family. Tyrosine protein kinases are important regulators of intracellular signal transduction pathways, mediating cellular proliferation, survival, and development. This gene is highly expressed in fetal tissues and at lower levels in few adult tissues, thus may function in signaling pathways utilized broadly during fetal development, and more selectively in adult tissues. It plays a negative regulatory role in the Ras-Raf1-MAPK pathway, and knockout mice have been shown to develop spontaneous tumors, suggesting a role as a tumor suppressor gene. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
PHENOTYPE: Mice either heterozygous or homozygous for a knock-out allele develop spontaneous tumors, including lymphomas and carcinomas, at high rates. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Amer2 |
T |
C |
14: 60,616,656 (GRCm39) |
S284P |
possibly damaging |
Het |
| Ap5z1 |
T |
C |
5: 142,462,532 (GRCm39) |
V614A |
probably benign |
Het |
| Arhgap9 |
A |
T |
10: 127,162,993 (GRCm39) |
|
probably null |
Het |
| Brf1 |
G |
A |
12: 112,963,819 (GRCm39) |
A53V |
probably benign |
Het |
| Cyp1a2 |
C |
T |
9: 57,587,232 (GRCm39) |
R353Q |
probably damaging |
Het |
| Deup1 |
G |
T |
9: 15,503,754 (GRCm39) |
S269* |
probably null |
Het |
| F11r |
T |
A |
1: 171,289,191 (GRCm39) |
Y218N |
possibly damaging |
Het |
| Gjd4 |
G |
T |
18: 9,280,811 (GRCm39) |
S89* |
probably null |
Het |
| Mapkbp1 |
A |
T |
2: 119,855,071 (GRCm39) |
E1430V |
probably benign |
Het |
| Mga |
A |
G |
2: 119,795,274 (GRCm39) |
K2986R |
probably damaging |
Het |
| Myo9b |
G |
T |
8: 71,780,584 (GRCm39) |
V494L |
probably damaging |
Het |
| Nbea |
G |
A |
3: 55,992,727 (GRCm39) |
T293I |
probably damaging |
Het |
| Neto2 |
C |
T |
8: 86,396,396 (GRCm39) |
R83Q |
probably damaging |
Het |
| Ocm |
A |
T |
5: 143,961,388 (GRCm39) |
|
probably null |
Het |
| Or52z14 |
C |
T |
7: 103,253,241 (GRCm39) |
R127C |
probably benign |
Het |
| Pcdha11 |
T |
C |
18: 37,140,477 (GRCm39) |
I702T |
possibly damaging |
Het |
| Plxna2 |
C |
T |
1: 194,431,625 (GRCm39) |
S538F |
probably damaging |
Het |
| Rbbp8nl |
A |
T |
2: 179,922,764 (GRCm39) |
S210T |
probably damaging |
Het |
| Rbl2 |
A |
T |
8: 91,813,774 (GRCm39) |
I340F |
probably benign |
Het |
| Rft1 |
T |
C |
14: 30,388,724 (GRCm39) |
L216P |
possibly damaging |
Het |
| Slc26a10 |
T |
A |
10: 127,015,606 (GRCm39) |
|
probably null |
Het |
| Slc34a1 |
G |
A |
13: 55,556,865 (GRCm39) |
A235T |
possibly damaging |
Het |
| Spag17 |
A |
G |
3: 100,010,772 (GRCm39) |
T2089A |
probably benign |
Het |
| Srek1 |
G |
C |
13: 103,889,536 (GRCm39) |
S260* |
probably null |
Het |
| Sspo |
T |
C |
6: 48,430,989 (GRCm39) |
V624A |
probably benign |
Het |
| Tapt1 |
T |
C |
5: 44,349,795 (GRCm39) |
I251V |
probably benign |
Het |
| Tmem248 |
T |
C |
5: 130,258,403 (GRCm39) |
I32T |
probably damaging |
Het |
| Trip12 |
TATACATACATACATACATACATACATACATAC |
TATACATACATACATACATACATACATACATACATAC |
1: 84,792,511 (GRCm39) |
|
probably null |
Het |
| Trp53tg5 |
T |
A |
2: 164,313,250 (GRCm39) |
R142* |
probably null |
Het |
| Upf1 |
C |
T |
8: 70,791,110 (GRCm39) |
R544H |
probably damaging |
Het |
| Vldlr |
C |
T |
19: 27,213,688 (GRCm39) |
T125I |
possibly damaging |
Het |
| Vps8 |
A |
G |
16: 21,378,087 (GRCm39) |
T1033A |
probably benign |
Het |
| Wiz |
A |
C |
17: 32,580,859 (GRCm39) |
H197Q |
probably damaging |
Het |
|
| Other mutations in Tnk1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01445:Tnk1
|
APN |
11 |
69,746,731 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02668:Tnk1
|
APN |
11 |
69,747,749 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0211:Tnk1
|
UTSW |
11 |
69,746,007 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0211:Tnk1
|
UTSW |
11 |
69,746,007 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0389:Tnk1
|
UTSW |
11 |
69,746,508 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0529:Tnk1
|
UTSW |
11 |
69,745,990 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1396:Tnk1
|
UTSW |
11 |
69,743,962 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1436:Tnk1
|
UTSW |
11 |
69,743,119 (GRCm39) |
splice site |
probably benign |
|
|
R1494:Tnk1
|
UTSW |
11 |
69,747,372 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R1687:Tnk1
|
UTSW |
11 |
69,747,299 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R1752:Tnk1
|
UTSW |
11 |
69,747,532 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1832:Tnk1
|
UTSW |
11 |
69,747,754 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2109:Tnk1
|
UTSW |
11 |
69,746,009 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2233:Tnk1
|
UTSW |
11 |
69,746,017 (GRCm39) |
splice site |
probably null |
|
|
R2234:Tnk1
|
UTSW |
11 |
69,746,017 (GRCm39) |
splice site |
probably null |
|
|
R3018:Tnk1
|
UTSW |
11 |
69,745,737 (GRCm39) |
intron |
probably benign |
|
|
R3689:Tnk1
|
UTSW |
11 |
69,746,425 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4746:Tnk1
|
UTSW |
11 |
69,745,992 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5653:Tnk1
|
UTSW |
11 |
69,744,411 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6154:Tnk1
|
UTSW |
11 |
69,747,780 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7384:Tnk1
|
UTSW |
11 |
69,742,447 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7649:Tnk1
|
UTSW |
11 |
69,744,403 (GRCm39) |
splice site |
probably null |
|
|
R7680:Tnk1
|
UTSW |
11 |
69,747,571 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8021:Tnk1
|
UTSW |
11 |
69,745,810 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8055:Tnk1
|
UTSW |
11 |
69,747,327 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8390:Tnk1
|
UTSW |
11 |
69,742,695 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R9482:Tnk1
|
UTSW |
11 |
69,743,666 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9526:Tnk1
|
UTSW |
11 |
69,746,011 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0061:Tnk1
|
UTSW |
11 |
69,743,098 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Tnk1
|
UTSW |
11 |
69,746,349 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
Z1177:Tnk1
|
UTSW |
11 |
69,746,503 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTCCAAAATCCGCCACCTTG -3'
(R):5'- AGTATCTGTCATGATGAAGCTAGAGC -3'
Sequencing Primer
(F):5'- GATCATTCGAGGTGAGGCC -3'
(R):5'- TGCATGGCCTCGTACTGG -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation