Incidental Mutation 'R5605:Map3k12'
| ID |
439266 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Map3k12
|
| Ensembl Gene |
ENSMUSG00000023050 |
| Gene Name |
mitogen-activated protein kinase kinase kinase 12 |
| Synonyms |
MUK, DLK, Zpk |
| MMRRC Submission |
043270-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5605 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
102406079-102425311 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 102412300 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 280
(D280E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127629
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023812]
[ENSMUST00000077037]
[ENSMUST00000078404]
[ENSMUST00000096145]
[ENSMUST00000108838]
[ENSMUST00000165174]
[ENSMUST00000169377]
[ENSMUST00000171565]
[ENSMUST00000229854]
[ENSMUST00000229618]
[ENSMUST00000169367]
[ENSMUST00000169162]
|
| AlphaFold |
Q60700 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023812
AA Change: D280E
PolyPhen 2
Score 0.174 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000023812
Gene: ENSMUSG00000023050
AA Change: D280E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
54 |
75 |
N/A |
INTRINSIC |
|
Pfam:Pkinase
|
158 |
397 |
3.3e-59 |
PFAM |
|
Pfam:Pkinase_Tyr
|
159 |
397 |
2.7e-62 |
PFAM |
|
coiled coil region
|
447 |
501 |
N/A |
INTRINSIC |
|
low complexity region
|
559 |
577 |
N/A |
INTRINSIC |
|
low complexity region
|
599 |
617 |
N/A |
INTRINSIC |
|
low complexity region
|
640 |
663 |
N/A |
INTRINSIC |
|
low complexity region
|
664 |
678 |
N/A |
INTRINSIC |
|
low complexity region
|
691 |
727 |
N/A |
INTRINSIC |
|
low complexity region
|
751 |
764 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000077037
|
| SMART Domains |
Protein: ENSMUSP00000076294
Gene: ENSMUSG00000056851
| Domain | Start | End | E-Value | Type |
|---|
|
KH
|
12 |
80 |
5.96e-15 |
SMART |
|
KH
|
96 |
167 |
2.48e-12 |
SMART |
|
KH
|
283 |
353 |
5.19e-15 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000078404
|
| SMART Domains |
Protein: ENSMUSP00000077509
Gene: ENSMUSG00000056851
| Domain | Start | End | E-Value | Type |
|---|
|
KH
|
12 |
80 |
5.96e-15 |
SMART |
|
KH
|
96 |
167 |
2.48e-12 |
SMART |
|
KH
|
270 |
340 |
5.19e-15 |
SMART |
|
| Predicted Effect |
silent
Transcript: ENSMUST00000096145
|
| SMART Domains |
Protein: ENSMUSP00000093859
Gene: ENSMUSG00000071586
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
29 |
37 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108838
|
| SMART Domains |
Protein: ENSMUSP00000104466
Gene: ENSMUSG00000056851
| Domain | Start | End | E-Value | Type |
|---|
|
KH
|
12 |
80 |
5.96e-15 |
SMART |
|
KH
|
96 |
167 |
2.48e-12 |
SMART |
|
KH
|
252 |
322 |
5.19e-15 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000164343
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165174
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169377
AA Change: D280E
PolyPhen 2
Score 0.174 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000133209
Gene: ENSMUSG00000023050
AA Change: D280E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
54 |
75 |
N/A |
INTRINSIC |
|
Pfam:Pkinase
|
159 |
397 |
1.2e-58 |
PFAM |
|
Pfam:Pkinase_Tyr
|
160 |
397 |
3.7e-62 |
PFAM |
|
coiled coil region
|
447 |
501 |
N/A |
INTRINSIC |
|
low complexity region
|
559 |
577 |
N/A |
INTRINSIC |
|
low complexity region
|
599 |
617 |
N/A |
INTRINSIC |
|
low complexity region
|
640 |
663 |
N/A |
INTRINSIC |
|
low complexity region
|
664 |
678 |
N/A |
INTRINSIC |
|
low complexity region
|
691 |
727 |
N/A |
INTRINSIC |
|
low complexity region
|
751 |
764 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171565
AA Change: D280E
PolyPhen 2
Score 0.174 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000127629
Gene: ENSMUSG00000023050
AA Change: D280E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
54 |
75 |
N/A |
INTRINSIC |
|
Pfam:Pkinase
|
158 |
397 |
3.3e-59 |
PFAM |
|
Pfam:Pkinase_Tyr
|
159 |
397 |
2.7e-62 |
PFAM |
|
coiled coil region
|
447 |
501 |
N/A |
INTRINSIC |
|
low complexity region
|
559 |
577 |
N/A |
INTRINSIC |
|
low complexity region
|
599 |
617 |
N/A |
INTRINSIC |
|
low complexity region
|
640 |
663 |
N/A |
INTRINSIC |
|
low complexity region
|
664 |
678 |
N/A |
INTRINSIC |
|
low complexity region
|
691 |
727 |
N/A |
INTRINSIC |
|
low complexity region
|
751 |
764 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229822
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229854
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229618
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169367
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169162
|
| Meta Mutation Damage Score |
0.2458 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.9%
|
| Validation Efficiency |
100% (55/55) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the serine/threonine protein kinase family. This kinase contains a leucine-zipper domain and is predominately expressed in neuronal cells. The phosphorylation state of this kinase in synaptic terminals was shown to be regulated by membrane depolarization via calcineurin. This kinase forms heterodimers with leucine zipper containing transcription factors, such as cAMP responsive element binding protein (CREB) and MYC, and thus may play a regulatory role in PKA or retinoic acid induced neuronal differentiation. Alternatively spliced transcript variants encoding different proteins have been described.[provided by RefSeq, Jul 2010]
PHENOTYPE: Mice homozygous for a gene-trapped allele lack the brain anterior commissure. Mice homozygous for a knock-out allele exhibit postnatal lethality and abnormal axon growth and radial migration of neocortical pyramidal neurons. [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 |
|---|
| Afg3l2 |
C |
A |
18: 67,575,425 (GRCm39) |
G83* |
probably null |
Het |
| Arap2 |
A |
T |
5: 62,772,410 (GRCm39) |
M1476K |
possibly damaging |
Het |
| Catsper2 |
G |
A |
2: 121,227,533 (GRCm39) |
R546C |
possibly damaging |
Het |
| Ceacam5 |
T |
C |
7: 17,481,161 (GRCm39) |
F303L |
probably benign |
Het |
| Clvs1 |
A |
G |
4: 9,281,751 (GRCm39) |
D65G |
probably damaging |
Het |
| Coq5 |
T |
C |
5: 115,421,776 (GRCm39) |
|
probably null |
Het |
| D630045J12Rik |
A |
T |
6: 38,168,699 (GRCm39) |
V950E |
probably damaging |
Het |
| Dennd4b |
G |
A |
3: 90,175,675 (GRCm39) |
R148Q |
probably damaging |
Het |
| Dnah7c |
A |
G |
1: 46,837,395 (GRCm39) |
D3936G |
possibly damaging |
Het |
| Doc2b |
T |
C |
11: 75,662,786 (GRCm39) |
E404G |
probably damaging |
Het |
| Dsg1b |
C |
T |
18: 20,532,596 (GRCm39) |
P547S |
probably benign |
Het |
| Eif1ad17 |
T |
A |
12: 87,978,768 (GRCm39) |
C51S |
probably damaging |
Het |
| Erich6 |
A |
G |
3: 58,532,540 (GRCm39) |
Y356H |
probably damaging |
Het |
| Galnt6 |
C |
T |
15: 100,595,106 (GRCm39) |
R465Q |
probably damaging |
Het |
| Gbp5 |
T |
C |
3: 142,207,037 (GRCm39) |
S69P |
probably damaging |
Het |
| Gdpd4 |
T |
C |
7: 97,655,507 (GRCm39) |
V562A |
probably benign |
Het |
| Greb1 |
A |
T |
12: 16,758,727 (GRCm39) |
V663D |
probably damaging |
Het |
| Gtf3c3 |
A |
T |
1: 54,455,085 (GRCm39) |
S593T |
probably benign |
Het |
| H2-Eb1 |
T |
C |
17: 34,528,807 (GRCm39) |
S113P |
probably benign |
Het |
| Herc3 |
C |
T |
6: 58,834,712 (GRCm39) |
R240C |
probably damaging |
Het |
| Iqub |
T |
C |
6: 24,505,620 (GRCm39) |
D96G |
probably benign |
Het |
| Irag1 |
C |
T |
7: 110,545,209 (GRCm39) |
C29Y |
possibly damaging |
Het |
| Kcnt2 |
A |
T |
1: 140,502,481 (GRCm39) |
E858D |
possibly damaging |
Het |
| Lcor |
T |
A |
19: 41,571,302 (GRCm39) |
I165N |
probably damaging |
Het |
| Lrp2 |
C |
T |
2: 69,353,643 (GRCm39) |
R539K |
probably damaging |
Het |
| Lrrc10 |
C |
A |
10: 116,881,805 (GRCm39) |
P160T |
probably damaging |
Het |
| Mcub |
T |
C |
3: 129,710,658 (GRCm39) |
E258G |
probably damaging |
Het |
| Mdn1 |
T |
C |
4: 32,765,664 (GRCm39) |
S5208P |
probably benign |
Het |
| Med20 |
C |
A |
17: 47,934,069 (GRCm39) |
|
probably benign |
Het |
| Mertk |
T |
C |
2: 128,580,227 (GRCm39) |
V227A |
probably benign |
Het |
| Ncstn |
A |
G |
1: 171,908,717 (GRCm39) |
|
probably benign |
Het |
| Nedd4l |
T |
C |
18: 65,307,315 (GRCm39) |
|
probably null |
Het |
| Nfyc |
A |
G |
4: 120,647,686 (GRCm39) |
|
probably benign |
Het |
| Npdc1 |
G |
A |
2: 25,298,957 (GRCm39) |
D284N |
probably damaging |
Het |
| Nt5dc1 |
C |
T |
10: 34,279,691 (GRCm39) |
C117Y |
probably benign |
Het |
| Nup88 |
A |
T |
11: 70,834,896 (GRCm39) |
|
probably benign |
Het |
| Or6z7 |
C |
T |
7: 6,483,325 (GRCm39) |
V277M |
probably benign |
Het |
| Pbrm1 |
T |
A |
14: 30,757,949 (GRCm39) |
I193K |
probably benign |
Het |
| Pcsk2 |
T |
C |
2: 143,591,165 (GRCm39) |
|
probably benign |
Het |
| Pdzd2 |
A |
T |
15: 12,592,436 (GRCm39) |
C69* |
probably null |
Het |
| Polr1e |
A |
G |
4: 45,018,723 (GRCm39) |
T18A |
probably benign |
Het |
| Prima1 |
T |
A |
12: 103,166,163 (GRCm39) |
I124F |
probably benign |
Het |
| Rbm34 |
T |
C |
8: 127,676,169 (GRCm39) |
K382R |
probably benign |
Het |
| Rftn1 |
T |
G |
17: 50,354,435 (GRCm39) |
N309T |
probably damaging |
Het |
| Septin1 |
C |
T |
7: 126,814,598 (GRCm39) |
D260N |
probably damaging |
Het |
| Serpina3g |
T |
C |
12: 104,207,299 (GRCm39) |
V154A |
probably damaging |
Het |
| Spef2 |
A |
T |
15: 9,609,606 (GRCm39) |
N1306K |
probably damaging |
Het |
| Stk4 |
T |
C |
2: 163,921,486 (GRCm39) |
F29S |
probably damaging |
Het |
| Stxbp5 |
A |
G |
10: 9,645,490 (GRCm39) |
|
probably benign |
Het |
| Tbl3 |
T |
C |
17: 24,919,733 (GRCm39) |
T774A |
probably benign |
Het |
| Tinag |
A |
G |
9: 76,952,694 (GRCm39) |
Y97H |
probably damaging |
Het |
| Tpm1 |
T |
C |
9: 66,956,317 (GRCm39) |
E33G |
probably damaging |
Het |
| Usp17lb |
T |
C |
7: 104,489,847 (GRCm39) |
E359G |
probably benign |
Het |
| Vmn2r91 |
A |
G |
17: 18,356,763 (GRCm39) |
E810G |
probably damaging |
Het |
| Vwce |
A |
T |
19: 10,635,402 (GRCm39) |
T633S |
possibly damaging |
Het |
| Ylpm1 |
G |
A |
12: 85,075,627 (GRCm39) |
R326H |
probably damaging |
Het |
|
| Other mutations in Map3k12 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01615:Map3k12
|
APN |
15 |
102,412,186 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01713:Map3k12
|
APN |
15 |
102,410,756 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01720:Map3k12
|
APN |
15 |
102,410,621 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02262:Map3k12
|
APN |
15 |
102,410,510 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02670:Map3k12
|
APN |
15 |
102,411,981 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL03004:Map3k12
|
APN |
15 |
102,412,631 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
IGL03369:Map3k12
|
APN |
15 |
102,410,514 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
react
|
UTSW |
15 |
102,413,837 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0894:Map3k12
|
UTSW |
15 |
102,410,613 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0918:Map3k12
|
UTSW |
15 |
102,412,287 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1547:Map3k12
|
UTSW |
15 |
102,412,287 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1844:Map3k12
|
UTSW |
15 |
102,411,970 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1880:Map3k12
|
UTSW |
15 |
102,410,499 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2292:Map3k12
|
UTSW |
15 |
102,408,574 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4397:Map3k12
|
UTSW |
15 |
102,409,694 (GRCm39) |
missense |
probably benign |
0.44 |
|
R4406:Map3k12
|
UTSW |
15 |
102,413,837 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4407:Map3k12
|
UTSW |
15 |
102,413,837 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4408:Map3k12
|
UTSW |
15 |
102,413,837 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4731:Map3k12
|
UTSW |
15 |
102,409,717 (GRCm39) |
missense |
probably benign |
0.28 |
|
R5074:Map3k12
|
UTSW |
15 |
102,410,267 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5848:Map3k12
|
UTSW |
15 |
102,412,670 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R6232:Map3k12
|
UTSW |
15 |
102,412,081 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6901:Map3k12
|
UTSW |
15 |
102,409,065 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R6901:Map3k12
|
UTSW |
15 |
102,409,064 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6946:Map3k12
|
UTSW |
15 |
102,413,569 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7291:Map3k12
|
UTSW |
15 |
102,410,601 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7874:Map3k12
|
UTSW |
15 |
102,409,077 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8331:Map3k12
|
UTSW |
15 |
102,410,766 (GRCm39) |
nonsense |
probably null |
|
|
R8460:Map3k12
|
UTSW |
15 |
102,410,032 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8784:Map3k12
|
UTSW |
15 |
102,413,797 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCTGCATGACCTCTGTACC -3'
(R):5'- CTGATGTGCGTGTAGGTCAC -3'
Sequencing Primer
(F):5'- GCATGACCTCTGTACCTGTCTCATC -3'
(R):5'- AGCCTGGCCAACTCCCTATG -3'
|
| Posted On |
2016-10-26 |
Incidental Mutation