Incidental Mutation 'IGL00942:Map3k7'
| ID |
27274 |
| 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 # |
IGL00942
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
31964097-32023467 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 32019539 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 533
(D533G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000079734
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037607]
[ENSMUST00000080933]
[ENSMUST00000108183]
[ENSMUST00000108184]
|
| AlphaFold |
Q62073 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000037607
AA Change: D560G
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000040307
Gene: ENSMUSG00000028284
AA Change: D560G
| 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 damaging
Transcript: ENSMUST00000080933
AA Change: D533G
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000079734
Gene: ENSMUSG00000028284
AA Change: D533G
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arap2 |
A |
C |
5: 62,855,732 (GRCm39) |
L568* |
probably null |
Het |
| Arfgef2 |
G |
A |
2: 166,727,773 (GRCm39) |
V1574M |
probably damaging |
Het |
| Arhgef12 |
C |
T |
9: 42,893,296 (GRCm39) |
R969H |
probably damaging |
Het |
| Cacng1 |
A |
T |
11: 107,595,195 (GRCm39) |
F127L |
probably benign |
Het |
| Cntnap5c |
T |
C |
17: 58,076,593 (GRCm39) |
V10A |
probably benign |
Het |
| Crtac1 |
T |
G |
19: 42,312,233 (GRCm39) |
D160A |
probably damaging |
Het |
| Csmd3 |
C |
T |
15: 47,710,502 (GRCm39) |
|
probably null |
Het |
| Grin3a |
A |
G |
4: 49,770,589 (GRCm39) |
F728L |
probably damaging |
Het |
| H3c1 |
T |
C |
13: 23,945,921 (GRCm39) |
|
probably benign |
Het |
| Hecw1 |
C |
T |
13: 14,515,325 (GRCm39) |
|
probably benign |
Het |
| Iyd |
C |
T |
10: 3,554,070 (GRCm38) |
C239F |
probably damaging |
Het |
| Madd |
A |
G |
2: 91,000,923 (GRCm39) |
V486A |
probably damaging |
Het |
| Matk |
A |
G |
10: 81,094,128 (GRCm39) |
D20G |
probably benign |
Het |
| Mphosph10 |
A |
G |
7: 64,039,503 (GRCm39) |
S156P |
probably benign |
Het |
| Mtif2 |
G |
A |
11: 29,488,753 (GRCm39) |
E356K |
probably damaging |
Het |
| Ndufb10 |
T |
C |
17: 24,943,158 (GRCm39) |
|
probably null |
Het |
| Nipal3 |
A |
T |
4: 135,195,904 (GRCm39) |
L233Q |
possibly damaging |
Het |
| Or7e169 |
T |
C |
9: 19,757,555 (GRCm39) |
Y120C |
probably damaging |
Het |
| Prss32 |
T |
A |
17: 24,078,134 (GRCm39) |
C273* |
probably null |
Het |
| Prtg |
T |
C |
9: 72,799,622 (GRCm39) |
S807P |
possibly damaging |
Het |
| Ric3 |
T |
G |
7: 108,653,619 (GRCm39) |
E157D |
probably damaging |
Het |
| Ric3 |
T |
A |
7: 108,653,620 (GRCm39) |
E157V |
probably damaging |
Het |
| Slc16a14 |
G |
A |
1: 84,900,592 (GRCm39) |
T131I |
probably damaging |
Het |
| Slc1a2 |
A |
T |
2: 102,570,159 (GRCm39) |
N137Y |
probably damaging |
Het |
| Slc25a27 |
T |
C |
17: 43,974,980 (GRCm39) |
I94V |
probably benign |
Het |
| Slco1a1 |
G |
A |
6: 141,892,354 (GRCm39) |
T4I |
probably benign |
Het |
| Slf1 |
A |
T |
13: 77,192,066 (GRCm39) |
F923I |
possibly damaging |
Het |
| Taf7l2 |
A |
G |
10: 115,949,341 (GRCm39) |
S62P |
possibly damaging |
Het |
| Ttll12 |
A |
C |
15: 83,466,649 (GRCm39) |
V306G |
possibly damaging |
Het |
| Tulp2 |
G |
A |
7: 45,165,692 (GRCm39) |
V97I |
possibly damaging |
Het |
| Vmn2r65 |
T |
G |
7: 84,592,761 (GRCm39) |
Q482P |
probably damaging |
Het |
| Wdr24 |
T |
A |
17: 26,045,595 (GRCm39) |
N443K |
probably benign |
Het |
|
| Other mutations in Map3k7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01677:Map3k7
|
APN |
4 |
32,017,158 (GRCm39) |
intron |
probably benign |
|
|
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 |
2013-04-17 |
Incidental Mutation