Incidental Mutation 'IGL01677:Map3k7'
ID |
103687 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Map3k7
|
Ensembl Gene |
ENSMUSG00000028284 |
Gene Name |
mitogen-activated protein kinase kinase kinase 7 |
Synonyms |
Tak1, transforming growth factor-beta-activated kinase 1, TAK1, transforming growth factor beta-activated kinase 1, TGF-beta activated kinase 1 |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL01677
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
31964097-32023467 bp(+) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
T to C
at 32017158 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103819
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037607]
[ENSMUST00000080933]
[ENSMUST00000108183]
[ENSMUST00000108184]
|
AlphaFold |
Q62073 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000037607
|
SMART Domains |
Protein: ENSMUSP00000040307 Gene: ENSMUSG00000028284
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
Pfam:Pkinase_Tyr
|
36 |
284 |
1.2e-61 |
PFAM |
Pfam:Pkinase
|
36 |
285 |
2.8e-56 |
PFAM |
low complexity region
|
361 |
375 |
N/A |
INTRINSIC |
low complexity region
|
453 |
463 |
N/A |
INTRINSIC |
low complexity region
|
484 |
495 |
N/A |
INTRINSIC |
coiled coil region
|
528 |
593 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000080933
|
SMART Domains |
Protein: ENSMUSP00000079734 Gene: ENSMUSG00000028284
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
Pfam:Pkinase_Tyr
|
36 |
284 |
1.7e-61 |
PFAM |
Pfam:Pkinase
|
36 |
285 |
8.4e-58 |
PFAM |
low complexity region
|
361 |
375 |
N/A |
INTRINSIC |
low complexity region
|
426 |
436 |
N/A |
INTRINSIC |
low complexity region
|
457 |
468 |
N/A |
INTRINSIC |
coiled coil region
|
501 |
566 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000108183
|
SMART Domains |
Protein: ENSMUSP00000103818 Gene: ENSMUSG00000028284
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
S_TKc
|
36 |
284 |
1.6e-63 |
SMART |
low complexity region
|
361 |
375 |
N/A |
INTRINSIC |
low complexity region
|
426 |
436 |
N/A |
INTRINSIC |
low complexity region
|
457 |
468 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000108184
|
SMART Domains |
Protein: ENSMUSP00000103819 Gene: ENSMUSG00000028284
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
Pfam:Pkinase_Tyr
|
36 |
284 |
5.6e-62 |
PFAM |
Pfam:Pkinase
|
36 |
285 |
2.8e-58 |
PFAM |
low complexity region
|
361 |
375 |
N/A |
INTRINSIC |
low complexity region
|
453 |
463 |
N/A |
INTRINSIC |
low complexity region
|
484 |
495 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131310
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147462
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Homozygous null mice display embryonic lethality during organogenesis and may have impaired vascular remodeling, edema, or an open, wavy neural tube. Mice with conditional deletion in immune cells show impaired cell development and activation. [provided by MGI curators]
|
Allele List at MGI |
All alleles(62) : Targeted(7) Gene trapped(55)
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arap3 |
T |
A |
18: 38,129,700 (GRCm39) |
M154L |
probably benign |
Het |
Asph |
T |
C |
4: 9,607,853 (GRCm39) |
D131G |
probably damaging |
Het |
Cdc45 |
G |
A |
16: 18,605,750 (GRCm39) |
T429I |
probably benign |
Het |
Cnga3 |
C |
T |
1: 37,283,999 (GRCm39) |
R101* |
probably null |
Het |
Cp |
T |
C |
3: 20,020,598 (GRCm39) |
I197T |
probably damaging |
Het |
Cyp4b1 |
T |
C |
4: 115,493,479 (GRCm39) |
D77G |
probably damaging |
Het |
Dnah5 |
G |
T |
15: 28,367,928 (GRCm39) |
W2771L |
probably damaging |
Het |
Fas |
G |
A |
19: 34,296,218 (GRCm39) |
V177I |
probably benign |
Het |
Gde1 |
A |
G |
7: 118,293,710 (GRCm39) |
|
probably benign |
Het |
Hyou1 |
T |
C |
9: 44,293,309 (GRCm39) |
S223P |
probably benign |
Het |
Klre1 |
G |
T |
6: 129,559,006 (GRCm39) |
G75C |
probably damaging |
Het |
Lama1 |
T |
C |
17: 68,086,143 (GRCm39) |
C1461R |
probably benign |
Het |
Mrpl18 |
A |
T |
17: 13,130,575 (GRCm39) |
I178N |
probably damaging |
Het |
Nckap1 |
T |
C |
2: 80,360,641 (GRCm39) |
T503A |
probably benign |
Het |
Or2n1 |
T |
C |
17: 38,486,766 (GRCm39) |
S264P |
probably damaging |
Het |
Or52n5 |
T |
C |
7: 104,587,852 (GRCm39) |
S40P |
probably benign |
Het |
Or52u1 |
T |
C |
7: 104,237,352 (GRCm39) |
S114P |
probably damaging |
Het |
Or7g28 |
T |
C |
9: 19,272,441 (GRCm39) |
D70G |
probably damaging |
Het |
Orc1 |
C |
T |
4: 108,461,782 (GRCm39) |
T593I |
probably damaging |
Het |
Phtf1 |
T |
A |
3: 103,906,099 (GRCm39) |
S594T |
probably damaging |
Het |
Ppp1r13b |
A |
T |
12: 111,810,099 (GRCm39) |
D78E |
probably benign |
Het |
Proz |
T |
C |
8: 13,115,238 (GRCm39) |
|
probably benign |
Het |
Rtcb |
C |
A |
10: 85,779,793 (GRCm39) |
Q292H |
probably damaging |
Het |
Septin11 |
A |
T |
5: 93,296,392 (GRCm39) |
T95S |
probably damaging |
Het |
Slc12a1 |
A |
G |
2: 125,020,069 (GRCm39) |
|
probably benign |
Het |
Slc45a3 |
T |
A |
1: 131,906,708 (GRCm39) |
I394N |
probably damaging |
Het |
Slc8a1 |
T |
C |
17: 81,956,036 (GRCm39) |
H334R |
probably damaging |
Het |
Sort1 |
T |
C |
3: 108,252,201 (GRCm39) |
I466T |
probably benign |
Het |
Susd2 |
A |
T |
10: 75,475,265 (GRCm39) |
V515E |
possibly damaging |
Het |
Ttll3 |
A |
G |
6: 113,389,945 (GRCm39) |
R778G |
probably benign |
Het |
Ubfd1 |
T |
A |
7: 121,670,922 (GRCm39) |
|
probably benign |
Het |
Utrn |
G |
A |
10: 12,619,901 (GRCm39) |
T248M |
probably damaging |
Het |
Vmn2r11 |
T |
G |
5: 109,201,823 (GRCm39) |
D227A |
possibly damaging |
Het |
|
Other mutations in Map3k7 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00942:Map3k7
|
APN |
4 |
32,019,539 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02608:Map3k7
|
APN |
4 |
31,981,452 (GRCm39) |
splice site |
probably benign |
|
IGL02796:Map3k7
|
UTSW |
4 |
31,979,692 (GRCm39) |
intron |
probably benign |
|
R0377:Map3k7
|
UTSW |
4 |
31,985,731 (GRCm39) |
missense |
probably damaging |
1.00 |
R0498:Map3k7
|
UTSW |
4 |
31,974,814 (GRCm39) |
splice site |
probably benign |
|
R1547:Map3k7
|
UTSW |
4 |
31,991,796 (GRCm39) |
missense |
probably benign |
0.31 |
R2360:Map3k7
|
UTSW |
4 |
31,964,302 (GRCm39) |
missense |
unknown |
|
R4709:Map3k7
|
UTSW |
4 |
31,985,700 (GRCm39) |
nonsense |
probably null |
|
R4815:Map3k7
|
UTSW |
4 |
31,988,592 (GRCm39) |
missense |
probably damaging |
0.98 |
R5497:Map3k7
|
UTSW |
4 |
31,991,719 (GRCm39) |
missense |
possibly damaging |
0.56 |
R5813:Map3k7
|
UTSW |
4 |
31,964,318 (GRCm39) |
missense |
probably damaging |
1.00 |
R6349:Map3k7
|
UTSW |
4 |
31,988,661 (GRCm39) |
missense |
possibly damaging |
0.87 |
R7314:Map3k7
|
UTSW |
4 |
31,985,769 (GRCm39) |
nonsense |
probably null |
|
R9251:Map3k7
|
UTSW |
4 |
32,002,080 (GRCm39) |
splice site |
probably benign |
|
R9765:Map3k7
|
UTSW |
4 |
32,019,519 (GRCm39) |
missense |
probably damaging |
1.00 |
X0066:Map3k7
|
UTSW |
4 |
31,974,848 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Map3k7
|
UTSW |
4 |
32,015,963 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2014-01-21 |