Incidental Mutation 'R5060:Mark3'
| ID |
386575 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mark3
|
| Ensembl Gene |
ENSMUSG00000007411 |
| Gene Name |
MAP/microtubule affinity regulating kinase 3 |
| Synonyms |
1600015G02Rik, C-TAK1, ETK-1, A430080F22Rik |
| MMRRC Submission |
042650-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.185)
|
| Stock # |
R5060 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
111540957-111622655 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 111584760 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 119
(F119L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152727
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075281]
[ENSMUST00000084953]
[ENSMUST00000221448]
[ENSMUST00000221459]
[ENSMUST00000221753]
[ENSMUST00000222870]
|
| AlphaFold |
Q03141 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000075281
AA Change: F119L
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000074757
Gene: ENSMUSG00000007411
AA Change: F119L
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
56 |
307 |
7.4e-109 |
SMART |
|
UBA
|
328 |
365 |
6.91e-9 |
SMART |
|
low complexity region
|
368 |
385 |
N/A |
INTRINSIC |
|
low complexity region
|
406 |
419 |
N/A |
INTRINSIC |
|
Pfam:KA1
|
683 |
729 |
3.7e-21 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000084953
AA Change: F119L
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000082017
Gene: ENSMUSG00000007411
AA Change: F119L
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
56 |
307 |
7.4e-109 |
SMART |
|
UBA
|
328 |
365 |
6.91e-9 |
SMART |
|
low complexity region
|
368 |
385 |
N/A |
INTRINSIC |
|
low complexity region
|
406 |
419 |
N/A |
INTRINSIC |
|
Pfam:KA1
|
700 |
744 |
4e-23 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220971
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221009
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221390
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221448
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000221459
AA Change: F119L
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000221753
AA Change: F119L
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000222870
AA Change: V51A
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222080
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221631
|
| Meta Mutation Damage Score |
0.8799 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 92.9%
|
| Validation Efficiency |
98% (52/53) |
| 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 activated by phosphorylation and in turn is involved in the phosphorylation of tau proteins MAP2 and MAP4. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
PHENOTYPE: Homozygous disruption of this gene results in decreased body weight, increased energy expenditure, reduced adiposity, and protection from high-fat diet induced obesity. On a high-fat diet, mice show resistance to hepatic steatosis, improved glucose tolerance, and decreased insulin levels. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A530064D06Rik |
A |
T |
17: 48,474,107 (GRCm39) |
L17Q |
probably damaging |
Het |
| Abca6 |
A |
G |
11: 110,110,430 (GRCm39) |
V573A |
possibly damaging |
Het |
| Abcc9 |
A |
G |
6: 142,571,836 (GRCm39) |
|
probably benign |
Het |
| Actg1 |
A |
G |
11: 120,237,839 (GRCm39) |
S234P |
probably benign |
Het |
| Acvr2a |
A |
G |
2: 48,780,311 (GRCm39) |
D177G |
probably damaging |
Het |
| Adamts12 |
T |
C |
15: 11,300,054 (GRCm39) |
C914R |
probably damaging |
Het |
| Adprhl1 |
A |
G |
8: 13,298,621 (GRCm39) |
I103T |
possibly damaging |
Het |
| Als2cl |
C |
T |
9: 110,713,205 (GRCm39) |
L32F |
probably damaging |
Het |
| Ank2 |
T |
C |
3: 126,739,570 (GRCm39) |
|
probably benign |
Het |
| Ankrd52 |
T |
A |
10: 128,225,710 (GRCm39) |
S959R |
possibly damaging |
Het |
| Bnc2 |
C |
A |
4: 84,449,872 (GRCm39) |
A122S |
probably benign |
Het |
| Cert1 |
A |
T |
13: 96,739,663 (GRCm39) |
K226N |
probably benign |
Het |
| Cfap54 |
C |
T |
10: 92,875,013 (GRCm39) |
V443M |
probably damaging |
Het |
| Cilk1 |
C |
T |
9: 78,060,978 (GRCm39) |
T208I |
probably benign |
Het |
| Clca4b |
T |
A |
3: 144,617,267 (GRCm39) |
R794S |
probably damaging |
Het |
| Cyp2c65 |
T |
C |
19: 39,049,514 (GRCm39) |
L14P |
unknown |
Het |
| Ggt5 |
T |
C |
10: 75,440,608 (GRCm39) |
M243T |
probably benign |
Het |
| Gmds |
A |
G |
13: 32,124,482 (GRCm39) |
I292T |
probably benign |
Het |
| Gpcpd1 |
A |
T |
2: 132,386,355 (GRCm39) |
V341E |
probably damaging |
Het |
| Grm3 |
A |
G |
5: 9,620,167 (GRCm39) |
F359S |
probably damaging |
Het |
| Hcn1 |
A |
T |
13: 118,010,441 (GRCm39) |
K340* |
probably null |
Het |
| Heatr9 |
T |
C |
11: 83,403,258 (GRCm39) |
E427G |
probably benign |
Het |
| Kif26b |
G |
A |
1: 178,358,195 (GRCm39) |
G102D |
unknown |
Het |
| Melk |
T |
C |
4: 44,350,959 (GRCm39) |
V500A |
probably benign |
Het |
| Mrpl41 |
A |
G |
2: 24,864,295 (GRCm39) |
F126L |
probably damaging |
Het |
| Or10c1 |
C |
A |
17: 37,522,307 (GRCm39) |
A146S |
probably benign |
Het |
| Or6c3b |
C |
T |
10: 129,527,699 (GRCm39) |
M70I |
probably benign |
Het |
| Pax7 |
A |
T |
4: 139,506,928 (GRCm39) |
S372T |
probably benign |
Het |
| Pax7 |
A |
T |
4: 139,556,906 (GRCm39) |
I118N |
probably damaging |
Het |
| Plcl1 |
G |
T |
1: 55,735,671 (GRCm39) |
M337I |
possibly damaging |
Het |
| Poc1a |
G |
T |
9: 106,227,012 (GRCm39) |
|
probably benign |
Het |
| Rabgef1 |
A |
G |
5: 130,240,844 (GRCm39) |
Y321C |
probably damaging |
Het |
| Rhobtb3 |
A |
C |
13: 76,061,389 (GRCm39) |
L252R |
probably benign |
Het |
| Rlf |
A |
G |
4: 121,004,063 (GRCm39) |
V1639A |
probably benign |
Het |
| Tff1 |
A |
G |
17: 31,381,682 (GRCm39) |
V65A |
probably damaging |
Het |
| Trpm4 |
G |
T |
7: 44,971,258 (GRCm39) |
D222E |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,643,741 (GRCm39) |
D13162E |
probably damaging |
Het |
| Unc5d |
A |
T |
8: 29,209,723 (GRCm39) |
S466T |
probably benign |
Het |
| Vmn1r73 |
A |
G |
7: 11,490,683 (GRCm39) |
Y167C |
probably damaging |
Het |
| Vwde |
C |
T |
6: 13,208,323 (GRCm39) |
|
probably null |
Het |
| Xpr1 |
T |
C |
1: 155,204,430 (GRCm39) |
|
probably null |
Het |
| Zbtb40 |
A |
G |
4: 136,728,604 (GRCm39) |
V413A |
possibly damaging |
Het |
|
| Other mutations in Mark3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01609:Mark3
|
APN |
12 |
111,593,956 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02047:Mark3
|
APN |
12 |
111,584,797 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02345:Mark3
|
APN |
12 |
111,593,541 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02637:Mark3
|
APN |
12 |
111,559,090 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03310:Mark3
|
APN |
12 |
111,614,104 (GRCm39) |
missense |
probably benign |
|
|
IGL03349:Mark3
|
APN |
12 |
111,594,684 (GRCm39) |
missense |
probably benign |
0.19 |
|
R0377:Mark3
|
UTSW |
12 |
111,595,463 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0551:Mark3
|
UTSW |
12 |
111,600,068 (GRCm39) |
missense |
probably benign |
|
|
R0846:Mark3
|
UTSW |
12 |
111,593,658 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1104:Mark3
|
UTSW |
12 |
111,584,831 (GRCm39) |
splice site |
probably benign |
|
|
R1305:Mark3
|
UTSW |
12 |
111,581,880 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1344:Mark3
|
UTSW |
12 |
111,594,271 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1418:Mark3
|
UTSW |
12 |
111,594,271 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1434:Mark3
|
UTSW |
12 |
111,589,759 (GRCm39) |
splice site |
probably benign |
|
|
R1556:Mark3
|
UTSW |
12 |
111,594,275 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1569:Mark3
|
UTSW |
12 |
111,600,180 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1582:Mark3
|
UTSW |
12 |
111,621,744 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1936:Mark3
|
UTSW |
12 |
111,584,799 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1975:Mark3
|
UTSW |
12 |
111,581,875 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2507:Mark3
|
UTSW |
12 |
111,593,676 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4394:Mark3
|
UTSW |
12 |
111,570,957 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4912:Mark3
|
UTSW |
12 |
111,559,087 (GRCm39) |
missense |
probably benign |
0.42 |
|
R4926:Mark3
|
UTSW |
12 |
111,584,758 (GRCm39) |
nonsense |
probably null |
|
|
R5133:Mark3
|
UTSW |
12 |
111,621,762 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5813:Mark3
|
UTSW |
12 |
111,621,877 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5834:Mark3
|
UTSW |
12 |
111,590,921 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5926:Mark3
|
UTSW |
12 |
111,559,168 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6523:Mark3
|
UTSW |
12 |
111,593,669 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6663:Mark3
|
UTSW |
12 |
111,541,517 (GRCm39) |
missense |
probably benign |
0.42 |
|
R6719:Mark3
|
UTSW |
12 |
111,581,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6942:Mark3
|
UTSW |
12 |
111,559,088 (GRCm39) |
missense |
probably null |
0.02 |
|
R6966:Mark3
|
UTSW |
12 |
111,606,458 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6978:Mark3
|
UTSW |
12 |
111,593,582 (GRCm39) |
missense |
probably benign |
|
|
R7303:Mark3
|
UTSW |
12 |
111,621,970 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7408:Mark3
|
UTSW |
12 |
111,600,223 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7454:Mark3
|
UTSW |
12 |
111,570,961 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7680:Mark3
|
UTSW |
12 |
111,613,207 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8194:Mark3
|
UTSW |
12 |
111,559,117 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8243:Mark3
|
UTSW |
12 |
111,613,956 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R8385:Mark3
|
UTSW |
12 |
111,621,808 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R8788:Mark3
|
UTSW |
12 |
111,613,124 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9144:Mark3
|
UTSW |
12 |
111,606,376 (GRCm39) |
missense |
probably benign |
|
|
R9562:Mark3
|
UTSW |
12 |
111,570,960 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9565:Mark3
|
UTSW |
12 |
111,570,960 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9735:Mark3
|
UTSW |
12 |
111,621,882 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGAGAAGCTTGATGTTTATGGCTTC -3'
(R):5'- TCGGACCCCAGTTTACTGTG -3'
Sequencing Primer
(F):5'- TCTTGGTTTTCTTTTACGAAATTCTG -3'
(R):5'- ACCCCAGTTTACTGTGTTGAG -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation