Incidental Mutation 'R5899:Map3k11'
| ID |
457752 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Map3k11
|
| Ensembl Gene |
ENSMUSG00000004054 |
| Gene Name |
mitogen-activated protein kinase kinase kinase 11 |
| Synonyms |
Mlk3, 2610017K16Rik |
| MMRRC Submission |
044098-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.340)
|
| Stock # |
R5899 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
5738770-5752893 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to G
at 5745937 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000004156
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004156]
[ENSMUST00000004156]
|
| AlphaFold |
Q80XI6 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000004156
|
| SMART Domains |
Protein: ENSMUSP00000004156
Gene: ENSMUSG00000004054
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
36 |
N/A |
INTRINSIC |
|
SH3
|
45 |
105 |
6.79e-19 |
SMART |
|
TyrKc
|
118 |
377 |
6.83e-81 |
SMART |
|
coiled coil region
|
398 |
444 |
N/A |
INTRINSIC |
|
low complexity region
|
467 |
476 |
N/A |
INTRINSIC |
|
low complexity region
|
593 |
610 |
N/A |
INTRINSIC |
|
low complexity region
|
614 |
632 |
N/A |
INTRINSIC |
|
low complexity region
|
676 |
697 |
N/A |
INTRINSIC |
|
low complexity region
|
759 |
778 |
N/A |
INTRINSIC |
|
low complexity region
|
786 |
805 |
N/A |
INTRINSIC |
|
low complexity region
|
809 |
820 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000004156
|
| SMART Domains |
Protein: ENSMUSP00000004156
Gene: ENSMUSG00000004054
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
36 |
N/A |
INTRINSIC |
|
SH3
|
45 |
105 |
6.79e-19 |
SMART |
|
TyrKc
|
118 |
377 |
6.83e-81 |
SMART |
|
coiled coil region
|
398 |
444 |
N/A |
INTRINSIC |
|
low complexity region
|
467 |
476 |
N/A |
INTRINSIC |
|
low complexity region
|
593 |
610 |
N/A |
INTRINSIC |
|
low complexity region
|
614 |
632 |
N/A |
INTRINSIC |
|
low complexity region
|
676 |
697 |
N/A |
INTRINSIC |
|
low complexity region
|
759 |
778 |
N/A |
INTRINSIC |
|
low complexity region
|
786 |
805 |
N/A |
INTRINSIC |
|
low complexity region
|
809 |
820 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.9591 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.5%
|
| Validation Efficiency |
93% (56/60) |
| 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 a member of the serine/threonine kinase family. This kinase contains a SH3 domain and a leucine zipper-basic motif. This kinase preferentially activates MAPK8/JNK kinase, and functions as a positive regulator of JNK signaling pathway. This kinase can directly phosphorylate, and activates IkappaB kinase alpha and beta, and is found to be involved in the transcription activity of NF-kappaB mediated by Rho family GTPases and CDC42. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted or spontaneous mutation display a pattern of dark red stripes of thin dorsal epithelium during pre-wean development, and necrotic dental pulp has been reported for the spontaneous mutant. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahi1 |
T |
C |
10: 20,876,465 (GRCm39) |
I792T |
probably benign |
Het |
| Anks1b |
T |
A |
10: 90,759,379 (GRCm39) |
|
probably null |
Het |
| Ano3 |
T |
G |
2: 110,693,232 (GRCm39) |
D122A |
probably benign |
Het |
| Atp12a |
T |
C |
14: 56,610,801 (GRCm39) |
V315A |
probably benign |
Het |
| B230104I21Rik |
G |
T |
4: 154,433,986 (GRCm39) |
G57* |
probably null |
Het |
| Bpifb2 |
A |
G |
2: 153,733,050 (GRCm39) |
K378E |
probably damaging |
Het |
| Cdk5rap2 |
T |
C |
4: 70,161,830 (GRCm39) |
|
probably benign |
Het |
| Ceacam23 |
A |
G |
7: 17,651,369 (GRCm39) |
D840G |
possibly damaging |
Het |
| Cflar |
A |
G |
1: 58,791,927 (GRCm39) |
D410G |
probably benign |
Het |
| Clcn6 |
A |
G |
4: 148,102,049 (GRCm39) |
V345A |
probably benign |
Het |
| Cnga1 |
C |
T |
5: 72,776,404 (GRCm39) |
V20I |
possibly damaging |
Het |
| Ddx50 |
T |
A |
10: 62,476,596 (GRCm39) |
K226* |
probably null |
Het |
| Dnah5 |
T |
C |
15: 28,448,513 (GRCm39) |
V4192A |
possibly damaging |
Het |
| Dnah8 |
G |
A |
17: 30,875,659 (GRCm39) |
D494N |
probably benign |
Het |
| Dock7 |
A |
T |
4: 98,879,660 (GRCm39) |
C965S |
probably benign |
Het |
| Dst |
C |
T |
1: 34,334,370 (GRCm39) |
A5083V |
probably damaging |
Het |
| E130208F15Rik |
T |
C |
7: 30,021,726 (GRCm39) |
Q10R |
probably damaging |
Het |
| Fbxw15 |
T |
C |
9: 109,384,741 (GRCm39) |
|
probably null |
Het |
| Fxr2 |
A |
G |
11: 69,543,511 (GRCm39) |
N671D |
probably damaging |
Het |
| Gbp7 |
A |
G |
3: 142,252,303 (GRCm39) |
T629A |
probably benign |
Het |
| Grm1 |
T |
C |
10: 10,565,092 (GRCm39) |
Y1072C |
probably benign |
Het |
| Hmcn2 |
A |
T |
2: 31,244,685 (GRCm39) |
E714V |
possibly damaging |
Het |
| Hsd17b13 |
T |
A |
5: 104,113,730 (GRCm39) |
E205D |
probably benign |
Het |
| Igf2bp3 |
A |
G |
6: 49,094,084 (GRCm39) |
|
probably benign |
Het |
| Il2ra |
A |
G |
2: 11,689,248 (GRCm39) |
H259R |
probably benign |
Het |
| Klk15 |
G |
T |
7: 43,588,247 (GRCm39) |
R185L |
probably benign |
Het |
| Morn3 |
A |
G |
5: 123,179,166 (GRCm39) |
W95R |
probably damaging |
Het |
| Nipbl |
A |
G |
15: 8,364,328 (GRCm39) |
|
probably null |
Het |
| Nrap |
A |
T |
19: 56,329,006 (GRCm39) |
V1145D |
possibly damaging |
Het |
| Or1e35 |
A |
G |
11: 73,797,755 (GRCm39) |
S188P |
probably damaging |
Het |
| Or2l13b |
C |
T |
16: 19,349,551 (GRCm39) |
G40R |
probably damaging |
Het |
| Or9k2 |
T |
A |
10: 129,998,542 (GRCm39) |
I218F |
probably benign |
Het |
| Pdcd11 |
A |
G |
19: 47,093,198 (GRCm39) |
N492S |
possibly damaging |
Het |
| Ptgfr |
C |
T |
3: 151,540,738 (GRCm39) |
V257I |
probably damaging |
Het |
| Racgap1 |
T |
C |
15: 99,521,509 (GRCm39) |
E549G |
possibly damaging |
Het |
| Rfx3 |
T |
C |
19: 27,808,165 (GRCm39) |
T193A |
probably damaging |
Het |
| Rplp0 |
T |
A |
5: 115,699,489 (GRCm39) |
I149N |
probably benign |
Het |
| Samd7 |
T |
G |
3: 30,810,883 (GRCm39) |
I300S |
probably benign |
Het |
| Scpep1 |
A |
G |
11: 88,825,402 (GRCm39) |
|
probably null |
Het |
| Senp6 |
T |
C |
9: 80,049,352 (GRCm39) |
|
probably benign |
Het |
| Serpinb2 |
G |
T |
1: 107,447,446 (GRCm39) |
G78V |
probably damaging |
Het |
| Sesn1 |
T |
C |
10: 41,687,189 (GRCm39) |
S58P |
probably benign |
Het |
| Skic3 |
A |
G |
13: 76,259,938 (GRCm39) |
|
probably null |
Het |
| Spg11 |
T |
C |
2: 121,928,680 (GRCm39) |
D591G |
possibly damaging |
Het |
| Spire2 |
A |
C |
8: 124,080,833 (GRCm39) |
S26R |
probably damaging |
Het |
| Strip2 |
T |
A |
6: 29,956,957 (GRCm39) |
|
probably benign |
Het |
| Ttn |
G |
A |
2: 76,697,519 (GRCm39) |
|
probably benign |
Het |
| Vmn2r77 |
A |
G |
7: 86,460,924 (GRCm39) |
Y750C |
probably damaging |
Het |
| Wnt11 |
T |
A |
7: 98,488,383 (GRCm39) |
Y23* |
probably null |
Het |
| Zbp1 |
T |
A |
2: 173,052,340 (GRCm39) |
D272V |
probably benign |
Het |
|
| Other mutations in Map3k11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02017:Map3k11
|
APN |
19 |
5,747,651 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL02581:Map3k11
|
APN |
19 |
5,750,834 (GRCm39) |
missense |
probably benign |
|
|
pow
|
UTSW |
19 |
5,750,622 (GRCm39) |
missense |
probably benign |
0.03 |
|
yow
|
UTSW |
19 |
5,747,429 (GRCm39) |
missense |
probably benign |
0.34 |
|
R0130:Map3k11
|
UTSW |
19 |
5,740,843 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0193:Map3k11
|
UTSW |
19 |
5,745,874 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1621:Map3k11
|
UTSW |
19 |
5,740,834 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1736:Map3k11
|
UTSW |
19 |
5,747,429 (GRCm39) |
missense |
probably benign |
0.34 |
|
R1791:Map3k11
|
UTSW |
19 |
5,745,600 (GRCm39) |
nonsense |
probably null |
|
|
R3500:Map3k11
|
UTSW |
19 |
5,740,275 (GRCm39) |
start codon destroyed |
probably benign |
0.08 |
|
R3836:Map3k11
|
UTSW |
19 |
5,740,831 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R3892:Map3k11
|
UTSW |
19 |
5,752,311 (GRCm39) |
missense |
probably benign |
0.13 |
|
R4303:Map3k11
|
UTSW |
19 |
5,740,852 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4513:Map3k11
|
UTSW |
19 |
5,752,238 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4613:Map3k11
|
UTSW |
19 |
5,747,499 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4613:Map3k11
|
UTSW |
19 |
5,747,498 (GRCm39) |
missense |
probably benign |
0.18 |
|
R4631:Map3k11
|
UTSW |
19 |
5,740,941 (GRCm39) |
missense |
probably benign |
0.30 |
|
R4780:Map3k11
|
UTSW |
19 |
5,740,966 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5213:Map3k11
|
UTSW |
19 |
5,740,669 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5266:Map3k11
|
UTSW |
19 |
5,750,622 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5372:Map3k11
|
UTSW |
19 |
5,740,990 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5736:Map3k11
|
UTSW |
19 |
5,746,739 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6052:Map3k11
|
UTSW |
19 |
5,747,430 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6388:Map3k11
|
UTSW |
19 |
5,740,279 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6623:Map3k11
|
UTSW |
19 |
5,745,631 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6975:Map3k11
|
UTSW |
19 |
5,740,755 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7309:Map3k11
|
UTSW |
19 |
5,740,486 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7771:Map3k11
|
UTSW |
19 |
5,740,636 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7815:Map3k11
|
UTSW |
19 |
5,745,667 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8988:Map3k11
|
UTSW |
19 |
5,752,166 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9130:Map3k11
|
UTSW |
19 |
5,746,038 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R9502:Map3k11
|
UTSW |
19 |
5,740,624 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0025:Map3k11
|
UTSW |
19 |
5,746,223 (GRCm39) |
frame shift |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACAACTCATGGCTGGTAAGAG -3'
(R):5'- TTTGCTCCGCTTGAAGGTGC -3'
Sequencing Primer
(F):5'- CATTAGACTGCTGGGCACAGG -3'
(R):5'- GTCCACCTGCTGCAGTAG -3'
|
| Posted On |
2017-02-15 |
Incidental Mutation