Incidental Mutation 'R7649:Tnk1'
| ID |
590705 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tnk1
|
| Ensembl Gene |
ENSMUSG00000001583 |
| Gene Name |
tyrosine kinase, non-receptor, 1 |
| Synonyms |
Tnk1b, Tnk1a, Kos1 |
| MMRRC Submission |
045646-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7649 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
69741831-69749556 bp(-) (GRCm39) |
| Type of Mutation |
splice site (4 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 69744403 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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 null
Transcript: ENSMUST00000001626
|
| SMART Domains |
Protein: ENSMUSP00000001626
Gene: ENSMUSG00000001583
| 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 |
probably benign
Transcript: ENSMUST00000108626
|
| SMART Domains |
Protein: ENSMUSP00000104266
Gene: ENSMUSG00000001583
| 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 null
Transcript: ENSMUST00000108628
|
| SMART Domains |
Protein: ENSMUSP00000104268
Gene: ENSMUSG00000001583
| 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 |
probably benign
Transcript: ENSMUST00000125571
|
| SMART Domains |
Protein: ENSMUSP00000118490
Gene: ENSMUSG00000001583
| 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 |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
98% (57/58) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr3b |
T |
C |
5: 26,053,364 (GRCm39) |
V319A |
probably benign |
Het |
| Adam28 |
T |
A |
14: 68,872,282 (GRCm39) |
Y320F |
probably benign |
Het |
| Adam4 |
T |
C |
12: 81,467,151 (GRCm39) |
Y490C |
probably damaging |
Het |
| Ampd3 |
G |
T |
7: 110,377,049 (GRCm39) |
L13F |
probably benign |
Het |
| Arhgap45 |
C |
A |
10: 79,866,835 (GRCm39) |
Q1113K |
probably benign |
Het |
| Arid5b |
T |
C |
10: 67,954,175 (GRCm39) |
T370A |
possibly damaging |
Het |
| Arl15 |
A |
G |
13: 114,104,208 (GRCm39) |
D115G |
possibly damaging |
Het |
| AW146154 |
G |
A |
7: 41,130,156 (GRCm39) |
T320I |
probably benign |
Het |
| Cdh17 |
C |
T |
4: 11,814,698 (GRCm39) |
P751L |
probably damaging |
Het |
| Chchd4 |
C |
T |
6: 91,444,754 (GRCm39) |
R11Q |
probably benign |
Het |
| Clta |
T |
G |
4: 44,025,494 (GRCm39) |
I140R |
possibly damaging |
Het |
| Cnpy1 |
T |
C |
5: 28,412,282 (GRCm39) |
T84A |
probably benign |
Het |
| Cpne5 |
T |
C |
17: 29,445,172 (GRCm39) |
D44G |
probably damaging |
Het |
| Crkl |
T |
C |
16: 17,270,366 (GRCm39) |
S9P |
unknown |
Het |
| Csmd3 |
T |
C |
15: 47,532,539 (GRCm39) |
D1641G |
|
Het |
| Ctnnd2 |
A |
G |
15: 31,027,630 (GRCm39) |
T1185A |
probably benign |
Het |
| Dlc1 |
A |
T |
8: 37,049,894 (GRCm39) |
L607Q |
probably damaging |
Het |
| Dpy19l2 |
T |
C |
9: 24,607,459 (GRCm39) |
M1V |
probably null |
Het |
| Dst |
T |
C |
1: 34,206,778 (GRCm39) |
V982A |
probably benign |
Het |
| Fam135b |
T |
C |
15: 71,334,429 (GRCm39) |
I922V |
probably benign |
Het |
| Fbxl13 |
T |
C |
5: 21,819,664 (GRCm39) |
E245G |
probably benign |
Het |
| Fcgbp |
T |
C |
7: 27,790,928 (GRCm39) |
S730P |
possibly damaging |
Het |
| Ggt1 |
T |
C |
10: 75,421,290 (GRCm39) |
V468A |
possibly damaging |
Het |
| Gja5 |
A |
T |
3: 96,958,957 (GRCm39) |
H338L |
probably benign |
Het |
| Herpud2 |
T |
C |
9: 25,021,902 (GRCm39) |
E248G |
possibly damaging |
Het |
| Il17rd |
C |
A |
14: 26,761,167 (GRCm39) |
A36E |
probably benign |
Het |
| Irf2bpl |
T |
C |
12: 86,929,572 (GRCm39) |
Y367C |
possibly damaging |
Het |
| Lama1 |
T |
A |
17: 68,044,549 (GRCm39) |
D149E |
|
Het |
| Lipf |
A |
T |
19: 33,943,098 (GRCm39) |
E135D |
possibly damaging |
Het |
| Manea |
T |
A |
4: 26,328,234 (GRCm39) |
D269V |
probably damaging |
Het |
| Megf6 |
A |
G |
4: 154,349,542 (GRCm39) |
Y910C |
probably damaging |
Het |
| Mical3 |
G |
A |
6: 120,911,909 (GRCm39) |
R1928W |
probably damaging |
Het |
| Or13c3 |
G |
A |
4: 52,855,692 (GRCm39) |
Q274* |
probably null |
Het |
| Or5b108 |
T |
A |
19: 13,168,136 (GRCm39) |
I35N |
possibly damaging |
Het |
| Plch1 |
G |
T |
3: 63,605,590 (GRCm39) |
S1438* |
probably null |
Het |
| Por |
T |
C |
5: 135,763,359 (GRCm39) |
F595L |
probably damaging |
Het |
| Prkcg |
G |
A |
7: 3,378,480 (GRCm39) |
R634H |
probably benign |
Het |
| Prr14l |
C |
T |
5: 32,985,589 (GRCm39) |
G1302D |
probably benign |
Het |
| Rcan3 |
A |
T |
4: 135,139,799 (GRCm39) |
S135T |
probably benign |
Het |
| Rnf223 |
A |
G |
4: 156,216,660 (GRCm39) |
M12V |
probably benign |
Het |
| Rps6kb2 |
A |
G |
19: 4,207,020 (GRCm39) |
S483P |
unknown |
Het |
| Sacs |
T |
A |
14: 61,440,677 (GRCm39) |
F908I |
possibly damaging |
Het |
| Slc4a9 |
A |
G |
18: 36,661,430 (GRCm39) |
Q64R |
probably benign |
Het |
| Slco4c1 |
T |
A |
1: 96,756,667 (GRCm39) |
I552F |
probably benign |
Het |
| Sppl2b |
C |
T |
10: 80,703,253 (GRCm39) |
P505L |
probably benign |
Het |
| Sptbn4 |
A |
G |
7: 27,061,002 (GRCm39) |
S2434P |
possibly damaging |
Het |
| Ssh1 |
A |
T |
5: 114,088,612 (GRCm39) |
M395K |
probably benign |
Het |
| Stk10 |
A |
T |
11: 32,527,764 (GRCm39) |
I171F |
|
Het |
| Tmx3 |
C |
T |
18: 90,558,154 (GRCm39) |
A402V |
probably damaging |
Het |
| Tnfrsf13c |
T |
C |
15: 82,108,341 (GRCm39) |
D58G |
possibly damaging |
Het |
| Trav14n-3 |
A |
T |
14: 53,607,951 (GRCm39) |
N94Y |
probably damaging |
Het |
| Trav5-4 |
A |
T |
14: 53,941,902 (GRCm39) |
K92* |
probably null |
Het |
| Tsga10 |
C |
T |
1: 37,874,229 (GRCm39) |
R190H |
unknown |
Het |
| Zfhx3 |
T |
C |
8: 109,678,276 (GRCm39) |
F3109L |
probably benign |
Het |
| Zfhx4 |
A |
G |
3: 5,307,170 (GRCm39) |
Y132C |
probably damaging |
Het |
| Zfp521 |
T |
C |
18: 13,977,413 (GRCm39) |
E1000G |
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 |
|
|
R2423:Tnk1
|
UTSW |
11 |
69,746,587 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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 |
|
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'- TTCCAGGTTGCAGTGTCCAG -3'
(R):5'- GTTTGCTACAGAGGAAGGTCC -3'
Sequencing Primer
(F):5'- AGGAAGGGAAGCCTTTTTCTCTCC -3'
(R):5'- GGAAGGTCCTTTCTCATTACCC -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation