Incidental Mutation 'R7680:Map4k3'
| ID |
592728 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Map4k3
|
| Ensembl Gene |
ENSMUSG00000024242 |
| Gene Name |
mitogen-activated protein kinase kinase kinase kinase 3 |
| Synonyms |
9530052P13Rik |
| MMRRC Submission |
045746-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7680 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
80887941-81035914 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 80889305 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 888
(I888T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108008
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025089]
[ENSMUST00000112389]
|
| AlphaFold |
Q99JP0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025089
AA Change: I886T
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000025089
Gene: ENSMUSG00000024242
AA Change: I886T
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
16 |
273 |
9.71e-95 |
SMART |
|
low complexity region
|
299 |
304 |
N/A |
INTRINSIC |
|
low complexity region
|
413 |
421 |
N/A |
INTRINSIC |
|
low complexity region
|
428 |
440 |
N/A |
INTRINSIC |
|
low complexity region
|
467 |
491 |
N/A |
INTRINSIC |
|
CNH
|
561 |
874 |
2e-115 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112389
AA Change: I888T
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000108008
Gene: ENSMUSG00000024242
AA Change: I888T
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
16 |
273 |
9.71e-95 |
SMART |
|
low complexity region
|
299 |
304 |
N/A |
INTRINSIC |
|
low complexity region
|
413 |
421 |
N/A |
INTRINSIC |
|
low complexity region
|
428 |
440 |
N/A |
INTRINSIC |
|
low complexity region
|
467 |
491 |
N/A |
INTRINSIC |
|
CNH
|
561 |
876 |
1.39e-114 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
100% (53/53) |
| 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 mitogen-activated protein kinase kinase kinase kinase family. The encoded protein activates key effectors in cell signalling, among them c-Jun. Alternatively spliced transcripts encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit decreased susceptibility to experimental autoimmune encephalomyelitis, decreased stimulated immunoglobin production, decreased stimulated T cell proliferation, and abnormal Th1, Th2, and Th17 differentiation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2510002D24Rik |
A |
G |
16: 18,657,958 (GRCm39) |
D104G |
possibly damaging |
Het |
| Ahi1 |
G |
T |
10: 20,883,667 (GRCm39) |
C844F |
possibly damaging |
Het |
| Bspry |
T |
C |
4: 62,414,828 (GRCm39) |
*474Q |
probably null |
Het |
| Car9 |
T |
A |
4: 43,507,250 (GRCm39) |
D65E |
probably damaging |
Het |
| Ccdc110 |
T |
A |
8: 46,394,688 (GRCm39) |
M193K |
possibly damaging |
Het |
| Ccdc166 |
A |
G |
15: 75,853,056 (GRCm39) |
S304P |
possibly damaging |
Het |
| Cdcp1 |
T |
C |
9: 123,012,584 (GRCm39) |
Q321R |
probably damaging |
Het |
| Cic |
T |
C |
7: 24,991,856 (GRCm39) |
V2255A |
probably damaging |
Het |
| Cmc2 |
A |
T |
8: 117,620,849 (GRCm39) |
M44K |
probably damaging |
Het |
| Crls1 |
A |
G |
2: 132,704,258 (GRCm39) |
T223A |
probably damaging |
Het |
| Ctnna3 |
A |
T |
10: 64,323,329 (GRCm39) |
H488L |
probably benign |
Het |
| Cyp2r1 |
A |
T |
7: 114,152,054 (GRCm39) |
I301N |
probably damaging |
Het |
| Dkk3 |
A |
T |
7: 111,718,570 (GRCm39) |
L272Q |
probably damaging |
Het |
| Dnah14 |
A |
G |
1: 181,513,365 (GRCm39) |
N1906S |
probably benign |
Het |
| Gm13271 |
T |
C |
4: 88,673,367 (GRCm39) |
V88A |
probably benign |
Het |
| Gphn |
C |
A |
12: 78,459,148 (GRCm39) |
L79I |
probably benign |
Het |
| Gpr15 |
A |
T |
16: 58,538,328 (GRCm39) |
W254R |
probably damaging |
Het |
| H2-M2 |
T |
C |
17: 37,793,916 (GRCm39) |
R103G |
possibly damaging |
Het |
| Hcn4 |
T |
C |
9: 58,767,954 (GRCm39) |
S1172P |
probably benign |
Het |
| Htr1a |
A |
G |
13: 105,581,539 (GRCm39) |
S260G |
probably benign |
Het |
| Iftap |
T |
C |
2: 101,440,901 (GRCm39) |
E34G |
probably damaging |
Het |
| Kif21b |
G |
T |
1: 136,075,607 (GRCm39) |
|
probably null |
Het |
| Lamp1 |
T |
C |
8: 13,217,812 (GRCm39) |
Y131H |
probably benign |
Het |
| Lrrc47 |
A |
C |
4: 154,100,558 (GRCm39) |
N378T |
probably benign |
Het |
| Manea |
A |
T |
4: 26,340,649 (GRCm39) |
H104Q |
probably damaging |
Het |
| Mark3 |
T |
C |
12: 111,613,207 (GRCm39) |
M557T |
probably benign |
Het |
| Muc6 |
G |
C |
7: 141,217,659 (GRCm39) |
P2338R |
probably damaging |
Het |
| Myh6 |
C |
A |
14: 55,186,190 (GRCm39) |
C1413F |
possibly damaging |
Het |
| Myorg |
C |
A |
4: 41,497,978 (GRCm39) |
D551Y |
probably damaging |
Het |
| Ncr1 |
T |
A |
7: 4,341,123 (GRCm39) |
M38K |
possibly damaging |
Het |
| Nid2 |
A |
G |
14: 19,829,715 (GRCm39) |
T669A |
probably damaging |
Het |
| Or6e1 |
T |
A |
14: 54,519,837 (GRCm39) |
I172F |
probably damaging |
Het |
| Plat |
G |
T |
8: 23,262,248 (GRCm39) |
G91W |
probably damaging |
Het |
| Plekha7 |
A |
G |
7: 115,763,511 (GRCm39) |
Y364H |
probably benign |
Het |
| Plxnb1 |
T |
A |
9: 108,929,571 (GRCm39) |
Y142* |
probably null |
Het |
| Ptprn |
T |
C |
1: 75,224,537 (GRCm39) |
I940V |
probably benign |
Het |
| Rnf213 |
T |
C |
11: 119,370,382 (GRCm39) |
V4728A |
|
Het |
| Samd9l |
A |
T |
6: 3,372,569 (GRCm39) |
L1564Q |
probably damaging |
Het |
| Samd9l |
A |
G |
6: 3,376,469 (GRCm39) |
I264T |
probably damaging |
Het |
| Slc16a7 |
T |
C |
10: 125,066,805 (GRCm39) |
D278G |
probably benign |
Het |
| Slc35f2 |
T |
A |
9: 53,715,396 (GRCm39) |
V214E |
probably damaging |
Het |
| Slc7a5 |
A |
C |
8: 122,634,006 (GRCm39) |
S114A |
probably damaging |
Het |
| St6galnac3 |
A |
G |
3: 152,911,047 (GRCm39) |
S305P |
probably damaging |
Het |
| Stat1 |
G |
A |
1: 52,183,368 (GRCm39) |
R378Q |
probably damaging |
Het |
| Tnfrsf9 |
T |
G |
4: 151,014,395 (GRCm39) |
C31W |
probably damaging |
Het |
| Tnk1 |
T |
C |
11: 69,747,571 (GRCm39) |
E61G |
possibly damaging |
Het |
| Tnks1bp1 |
T |
A |
2: 84,889,585 (GRCm39) |
D637E |
probably benign |
Het |
| Ttc17 |
C |
T |
2: 94,196,889 (GRCm39) |
G486D |
probably benign |
Het |
| Vmn1r30 |
T |
A |
6: 58,412,284 (GRCm39) |
R183* |
probably null |
Het |
| Vmn2r78 |
A |
G |
7: 86,604,149 (GRCm39) |
T776A |
probably damaging |
Het |
| Wrap73 |
A |
G |
4: 154,241,079 (GRCm39) |
E444G |
probably benign |
Het |
| Zc3h13 |
C |
T |
14: 75,567,955 (GRCm39) |
R1083C |
probably damaging |
Het |
| Zfp189 |
A |
G |
4: 49,521,547 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Map4k3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01147:Map4k3
|
APN |
17 |
80,944,147 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01329:Map4k3
|
APN |
17 |
80,951,613 (GRCm39) |
missense |
probably benign |
|
|
IGL01626:Map4k3
|
APN |
17 |
80,913,238 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01896:Map4k3
|
APN |
17 |
80,921,360 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL02021:Map4k3
|
APN |
17 |
80,917,255 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02585:Map4k3
|
APN |
17 |
80,961,348 (GRCm39) |
splice site |
probably benign |
|
|
IGL03101:Map4k3
|
APN |
17 |
80,963,284 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03231:Map4k3
|
APN |
17 |
80,905,104 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03267:Map4k3
|
APN |
17 |
80,971,457 (GRCm39) |
missense |
probably damaging |
1.00 |
|
homelander
|
UTSW |
17 |
80,909,622 (GRCm39) |
missense |
probably damaging |
1.00 |
|
maple_forest
|
UTSW |
17 |
80,911,427 (GRCm39) |
missense |
probably benign |
0.38 |
|
stormfront
|
UTSW |
17 |
80,944,161 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0084:Map4k3
|
UTSW |
17 |
80,963,343 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R0211:Map4k3
|
UTSW |
17 |
80,952,270 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0211:Map4k3
|
UTSW |
17 |
80,952,270 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0612:Map4k3
|
UTSW |
17 |
80,909,622 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0842:Map4k3
|
UTSW |
17 |
80,913,412 (GRCm39) |
missense |
probably benign |
0.35 |
|
R2009:Map4k3
|
UTSW |
17 |
80,971,517 (GRCm39) |
splice site |
probably benign |
|
|
R2224:Map4k3
|
UTSW |
17 |
80,937,883 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3851:Map4k3
|
UTSW |
17 |
80,951,752 (GRCm39) |
splice site |
probably benign |
|
|
R4049:Map4k3
|
UTSW |
17 |
80,913,394 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4151:Map4k3
|
UTSW |
17 |
80,951,963 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4345:Map4k3
|
UTSW |
17 |
80,904,980 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4405:Map4k3
|
UTSW |
17 |
80,922,444 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4450:Map4k3
|
UTSW |
17 |
80,911,411 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4970:Map4k3
|
UTSW |
17 |
80,961,332 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5230:Map4k3
|
UTSW |
17 |
80,922,599 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5459:Map4k3
|
UTSW |
17 |
80,917,216 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5568:Map4k3
|
UTSW |
17 |
80,971,427 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R5635:Map4k3
|
UTSW |
17 |
80,920,924 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5827:Map4k3
|
UTSW |
17 |
80,900,712 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5927:Map4k3
|
UTSW |
17 |
80,921,348 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5951:Map4k3
|
UTSW |
17 |
80,911,427 (GRCm39) |
missense |
probably benign |
0.38 |
|
R5964:Map4k3
|
UTSW |
17 |
80,952,191 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6849:Map4k3
|
UTSW |
17 |
80,937,842 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6985:Map4k3
|
UTSW |
17 |
80,944,161 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7040:Map4k3
|
UTSW |
17 |
80,988,344 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7233:Map4k3
|
UTSW |
17 |
80,905,077 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R7511:Map4k3
|
UTSW |
17 |
80,905,077 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R7672:Map4k3
|
UTSW |
17 |
80,922,500 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R7804:Map4k3
|
UTSW |
17 |
80,922,499 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8170:Map4k3
|
UTSW |
17 |
80,913,289 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8397:Map4k3
|
UTSW |
17 |
80,971,446 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8745:Map4k3
|
UTSW |
17 |
80,944,164 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R9106:Map4k3
|
UTSW |
17 |
81,035,257 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9622:Map4k3
|
UTSW |
17 |
80,958,538 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9658:Map4k3
|
UTSW |
17 |
80,961,306 (GRCm39) |
missense |
probably benign |
0.01 |
|
X0023:Map4k3
|
UTSW |
17 |
80,900,520 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Map4k3
|
UTSW |
17 |
80,925,766 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCACTTGTGTGGTTCAATATGC -3'
(R):5'- GCAGTGCTTAGAGTAGTGTCTAAAAG -3'
Sequencing Primer
(F):5'- AAAACAAAATGTTCTCCCATCTGTC -3'
(R):5'- TAGTGTCTAAAAGAAGCCATGGTTG -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation