Incidental Mutation 'R2360:Map3k7'
| ID |
247101 |
| Institutional Source |
Beutler Lab
|
| 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 |
| MMRRC Submission |
040342-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2360 (G1)
|
| Quality Score |
135 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
31964097-32023467 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 31964302 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 14
(S14P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103819
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037607]
[ENSMUST00000080933]
[ENSMUST00000108183]
[ENSMUST00000108184]
|
| AlphaFold |
Q62073 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000037607
AA Change: S14P
|
| SMART Domains |
Protein: ENSMUSP00000040307
Gene: ENSMUSG00000028284
AA Change: S14P
| 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 |
unknown
Transcript: ENSMUST00000080933
AA Change: S14P
|
| SMART Domains |
Protein: ENSMUSP00000079734
Gene: ENSMUSG00000028284
AA Change: S14P
| 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 |
unknown
Transcript: ENSMUST00000108183
AA Change: S14P
|
| SMART Domains |
Protein: ENSMUSP00000103818
Gene: ENSMUSG00000028284
AA Change: S14P
| 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 |
unknown
Transcript: ENSMUST00000108184
AA Change: S14P
|
| SMART Domains |
Protein: ENSMUSP00000103819
Gene: ENSMUSG00000028284
AA Change: S14P
| 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
93% (37/40) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930432E11Rik |
A |
T |
7: 29,274,214 (GRCm39) |
|
noncoding transcript |
Het |
| Abca14 |
A |
G |
7: 119,850,431 (GRCm39) |
E761G |
probably benign |
Het |
| Apc |
C |
T |
18: 34,394,179 (GRCm39) |
T35I |
probably damaging |
Het |
| Arhgef2 |
T |
A |
3: 88,541,723 (GRCm39) |
I228N |
probably damaging |
Het |
| Atp6v1g2 |
A |
G |
17: 35,456,638 (GRCm39) |
E74G |
probably damaging |
Het |
| Ccdc70 |
A |
G |
8: 22,463,447 (GRCm39) |
E79G |
probably damaging |
Het |
| Cdc42ep4 |
A |
G |
11: 113,619,528 (GRCm39) |
S288P |
probably damaging |
Het |
| Cip2a |
C |
T |
16: 48,837,828 (GRCm39) |
Q843* |
probably null |
Het |
| Cpn2 |
T |
C |
16: 30,078,321 (GRCm39) |
D460G |
probably benign |
Het |
| Crtam |
A |
G |
9: 40,884,811 (GRCm39) |
*393Q |
probably null |
Het |
| Cwc22 |
A |
G |
2: 77,757,591 (GRCm39) |
I179T |
probably damaging |
Het |
| Cyp3a41b |
T |
C |
5: 145,507,221 (GRCm39) |
M240V |
probably benign |
Het |
| Dnah8 |
A |
T |
17: 30,896,178 (GRCm39) |
D864V |
probably benign |
Het |
| Med25 |
A |
G |
7: 44,534,566 (GRCm39) |
S150P |
probably damaging |
Het |
| Mex3b |
T |
C |
7: 82,517,070 (GRCm39) |
V71A |
probably benign |
Het |
| Morc3 |
T |
C |
16: 93,638,275 (GRCm39) |
L19S |
probably damaging |
Het |
| Morn1 |
T |
A |
4: 155,176,770 (GRCm39) |
S98T |
probably damaging |
Het |
| Mthfd1l |
G |
T |
10: 4,006,771 (GRCm39) |
A678S |
probably damaging |
Het |
| Napa |
A |
G |
7: 15,848,083 (GRCm39) |
Y200C |
probably damaging |
Het |
| Nr5a2 |
T |
C |
1: 136,876,565 (GRCm39) |
I33V |
probably benign |
Het |
| Or14j6 |
A |
G |
17: 38,215,345 (GRCm39) |
K303E |
possibly damaging |
Het |
| Pcnx1 |
A |
G |
12: 81,996,960 (GRCm39) |
D952G |
probably damaging |
Het |
| Phf20l1 |
G |
A |
15: 66,466,769 (GRCm39) |
R66Q |
probably damaging |
Het |
| Resf1 |
A |
G |
6: 149,236,145 (GRCm39) |
I1488M |
probably benign |
Het |
| Rfk |
A |
G |
19: 17,375,960 (GRCm39) |
T85A |
probably benign |
Het |
| Sbno2 |
T |
C |
10: 79,893,855 (GRCm39) |
D1179G |
possibly damaging |
Het |
| Serpina3k |
C |
T |
12: 104,307,166 (GRCm39) |
Q133* |
probably null |
Het |
| Setd4 |
T |
C |
16: 93,383,122 (GRCm39) |
|
probably benign |
Het |
| Sh2d4b |
C |
T |
14: 40,582,548 (GRCm39) |
|
probably null |
Het |
| Slc1a6 |
G |
A |
10: 78,648,718 (GRCm39) |
V480I |
possibly damaging |
Het |
| Slc39a3 |
A |
T |
10: 80,867,104 (GRCm39) |
V214E |
possibly damaging |
Het |
| Tll1 |
A |
G |
8: 64,504,435 (GRCm39) |
Y654H |
probably damaging |
Het |
| Traf3ip1 |
T |
A |
1: 91,427,374 (GRCm39) |
C115S |
unknown |
Het |
| Vmn1r209 |
T |
A |
13: 22,989,836 (GRCm39) |
I285F |
probably damaging |
Het |
| Vmn2r87 |
G |
T |
10: 130,315,631 (GRCm39) |
T145K |
probably damaging |
Het |
| Zan |
T |
C |
5: 137,394,388 (GRCm39) |
T4484A |
unknown |
Het |
| Zfp768 |
T |
C |
7: 126,943,810 (GRCm39) |
E106G |
probably benign |
Het |
| Zfp984 |
A |
G |
4: 147,839,234 (GRCm39) |
I539T |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAAACCGGAACTGGAAGTGTG -3'
(R):5'- TGCCGACCACATAAGAATCAGG -3'
Sequencing Primer
(F):5'- AACTGGAAGTGTGGTGGGC -3'
(R):5'- CCGACCACATAAGAATCAGGTAGAG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation