Incidental Mutation 'IGL03493:Map4k1'
ID |
490735 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Map4k1
|
Ensembl Gene |
ENSMUSG00000037337 |
Gene Name |
mitogen-activated protein kinase kinase kinase kinase 1 |
Synonyms |
Hpk1 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL03493
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
28681475-28702704 bp(+) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
A to T
at 28683576 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000147087
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066070]
[ENSMUST00000085835]
[ENSMUST00000207185]
[ENSMUST00000207683]
[ENSMUST00000208227]
[ENSMUST00000208616]
[ENSMUST00000208707]
|
AlphaFold |
P70218 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000066070
|
SMART Domains |
Protein: ENSMUSP00000066038 Gene: ENSMUSG00000053565
Domain | Start | End | E-Value | Type |
Pfam:CSN8_PSD8_EIF3K
|
61 |
200 |
1.2e-36 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000085835
|
SMART Domains |
Protein: ENSMUSP00000082995 Gene: ENSMUSG00000037337
Domain | Start | End | E-Value | Type |
S_TKc
|
17 |
274 |
3.58e-84 |
SMART |
low complexity region
|
301 |
318 |
N/A |
INTRINSIC |
low complexity region
|
373 |
383 |
N/A |
INTRINSIC |
low complexity region
|
385 |
416 |
N/A |
INTRINSIC |
low complexity region
|
426 |
446 |
N/A |
INTRINSIC |
CNH
|
506 |
813 |
4.93e-106 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000207185
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000207683
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207762
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208227
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208616
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208707
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Homozygous null mice have increased responses of B and T cells. Dendritic cells are also hyperresponsive to stimulation. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aldoart1 |
G |
A |
4: 72,769,884 (GRCm39) |
T253I |
probably damaging |
Het |
Ampd2 |
T |
C |
3: 107,982,674 (GRCm39) |
E694G |
probably damaging |
Het |
Atcay |
C |
A |
10: 81,046,407 (GRCm39) |
E306* |
probably null |
Het |
Atp13a5 |
G |
T |
16: 29,116,342 (GRCm39) |
D546E |
probably benign |
Het |
C2cd2 |
T |
C |
16: 97,682,861 (GRCm39) |
D125G |
probably damaging |
Het |
Col23a1 |
T |
C |
11: 51,455,632 (GRCm39) |
|
probably null |
Het |
Col9a1 |
T |
A |
1: 24,260,651 (GRCm39) |
|
probably benign |
Het |
Cyp4a31 |
T |
A |
4: 115,427,952 (GRCm39) |
|
probably null |
Het |
Dnah11 |
G |
A |
12: 117,976,533 (GRCm39) |
R2708C |
probably benign |
Het |
Dzip3 |
T |
C |
16: 48,772,059 (GRCm39) |
I537V |
probably benign |
Het |
Ezh1 |
T |
C |
11: 101,094,617 (GRCm39) |
T392A |
probably benign |
Het |
Hsd17b14 |
A |
T |
7: 45,205,515 (GRCm39) |
D42V |
probably damaging |
Het |
Hsf2 |
A |
T |
10: 57,381,462 (GRCm39) |
I294F |
probably damaging |
Het |
Ibtk |
G |
T |
9: 85,600,972 (GRCm39) |
S797R |
probably benign |
Het |
Kif20b |
T |
A |
19: 34,936,950 (GRCm39) |
C183* |
probably null |
Het |
Lnpep |
G |
T |
17: 17,799,433 (GRCm39) |
A74E |
probably damaging |
Het |
Matn1 |
A |
G |
4: 130,677,309 (GRCm39) |
R173G |
probably benign |
Het |
Nyap1 |
A |
G |
5: 137,733,278 (GRCm39) |
I585T |
probably damaging |
Het |
Or13a27 |
A |
T |
7: 139,925,066 (GRCm39) |
Y279N |
probably damaging |
Het |
Or52e7 |
A |
G |
7: 104,685,151 (GRCm39) |
T249A |
probably damaging |
Het |
Or5d39 |
G |
A |
2: 87,980,280 (GRCm39) |
P28S |
probably benign |
Het |
Phactr2 |
A |
G |
10: 13,133,413 (GRCm39) |
V190A |
probably benign |
Het |
Podnl1 |
G |
A |
8: 84,858,818 (GRCm39) |
V548I |
probably benign |
Het |
Rad51c |
A |
T |
11: 87,288,579 (GRCm39) |
H201Q |
probably benign |
Het |
Sec63 |
C |
A |
10: 42,704,937 (GRCm39) |
D730E |
probably benign |
Het |
Smarcc2 |
A |
G |
10: 128,297,226 (GRCm39) |
I39M |
probably damaging |
Het |
Trav2 |
A |
G |
14: 52,804,745 (GRCm39) |
|
probably benign |
Het |
Ugt3a1 |
A |
G |
15: 9,361,569 (GRCm39) |
Y115C |
probably damaging |
Het |
Zfp955b |
T |
G |
17: 33,521,519 (GRCm39) |
H329Q |
probably benign |
Het |
|
Other mutations in Map4k1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01538:Map4k1
|
APN |
7 |
28,701,044 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01936:Map4k1
|
APN |
7 |
28,688,032 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL02473:Map4k1
|
APN |
7 |
28,699,297 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02934:Map4k1
|
APN |
7 |
28,693,531 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03180:Map4k1
|
APN |
7 |
28,687,510 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03199:Map4k1
|
APN |
7 |
28,682,842 (GRCm39) |
missense |
probably damaging |
1.00 |
R0333:Map4k1
|
UTSW |
7 |
28,699,186 (GRCm39) |
unclassified |
probably benign |
|
R1296:Map4k1
|
UTSW |
7 |
28,697,877 (GRCm39) |
missense |
possibly damaging |
0.96 |
R1305:Map4k1
|
UTSW |
7 |
28,694,890 (GRCm39) |
missense |
probably benign |
|
R1519:Map4k1
|
UTSW |
7 |
28,690,461 (GRCm39) |
missense |
probably benign |
0.00 |
R1711:Map4k1
|
UTSW |
7 |
28,688,777 (GRCm39) |
missense |
possibly damaging |
0.80 |
R1842:Map4k1
|
UTSW |
7 |
28,686,588 (GRCm39) |
missense |
probably damaging |
1.00 |
R1851:Map4k1
|
UTSW |
7 |
28,699,209 (GRCm39) |
missense |
probably benign |
|
R2042:Map4k1
|
UTSW |
7 |
28,683,555 (GRCm39) |
missense |
probably damaging |
1.00 |
R2274:Map4k1
|
UTSW |
7 |
28,701,382 (GRCm39) |
missense |
probably damaging |
1.00 |
R2275:Map4k1
|
UTSW |
7 |
28,701,382 (GRCm39) |
missense |
probably damaging |
1.00 |
R4426:Map4k1
|
UTSW |
7 |
28,688,020 (GRCm39) |
missense |
probably damaging |
1.00 |
R4568:Map4k1
|
UTSW |
7 |
28,686,079 (GRCm39) |
missense |
probably damaging |
1.00 |
R4858:Map4k1
|
UTSW |
7 |
28,688,195 (GRCm39) |
missense |
probably damaging |
1.00 |
R4903:Map4k1
|
UTSW |
7 |
28,682,427 (GRCm39) |
missense |
probably benign |
0.01 |
R4964:Map4k1
|
UTSW |
7 |
28,682,427 (GRCm39) |
missense |
probably benign |
0.01 |
R4966:Map4k1
|
UTSW |
7 |
28,682,427 (GRCm39) |
missense |
probably benign |
0.01 |
R5124:Map4k1
|
UTSW |
7 |
28,688,257 (GRCm39) |
missense |
probably damaging |
1.00 |
R5778:Map4k1
|
UTSW |
7 |
28,693,646 (GRCm39) |
missense |
probably benign |
0.37 |
R5786:Map4k1
|
UTSW |
7 |
28,699,445 (GRCm39) |
missense |
probably damaging |
1.00 |
R6343:Map4k1
|
UTSW |
7 |
28,699,715 (GRCm39) |
missense |
possibly damaging |
0.76 |
R6475:Map4k1
|
UTSW |
7 |
28,686,447 (GRCm39) |
missense |
probably damaging |
1.00 |
R6702:Map4k1
|
UTSW |
7 |
28,701,821 (GRCm39) |
missense |
possibly damaging |
0.86 |
R6703:Map4k1
|
UTSW |
7 |
28,701,821 (GRCm39) |
missense |
possibly damaging |
0.86 |
R6856:Map4k1
|
UTSW |
7 |
28,686,259 (GRCm39) |
missense |
probably damaging |
1.00 |
R6870:Map4k1
|
UTSW |
7 |
28,701,096 (GRCm39) |
critical splice donor site |
probably null |
|
R6904:Map4k1
|
UTSW |
7 |
28,686,227 (GRCm39) |
missense |
probably damaging |
1.00 |
R7081:Map4k1
|
UTSW |
7 |
28,690,574 (GRCm39) |
missense |
probably benign |
|
R7572:Map4k1
|
UTSW |
7 |
28,686,563 (GRCm39) |
missense |
probably benign |
0.01 |
R7868:Map4k1
|
UTSW |
7 |
28,699,387 (GRCm39) |
critical splice acceptor site |
probably null |
|
R8034:Map4k1
|
UTSW |
7 |
28,687,573 (GRCm39) |
missense |
probably damaging |
1.00 |
R8054:Map4k1
|
UTSW |
7 |
28,689,181 (GRCm39) |
splice site |
probably benign |
|
R8512:Map4k1
|
UTSW |
7 |
28,695,583 (GRCm39) |
missense |
possibly damaging |
0.88 |
R8686:Map4k1
|
UTSW |
7 |
28,693,498 (GRCm39) |
missense |
probably benign |
0.04 |
R8723:Map4k1
|
UTSW |
7 |
28,686,542 (GRCm39) |
missense |
probably damaging |
0.99 |
R8743:Map4k1
|
UTSW |
7 |
28,686,542 (GRCm39) |
missense |
probably damaging |
0.99 |
R8745:Map4k1
|
UTSW |
7 |
28,686,542 (GRCm39) |
missense |
probably damaging |
0.99 |
R8885:Map4k1
|
UTSW |
7 |
28,688,862 (GRCm39) |
missense |
probably benign |
0.00 |
R8921:Map4k1
|
UTSW |
7 |
28,701,052 (GRCm39) |
missense |
probably damaging |
0.96 |
R9518:Map4k1
|
UTSW |
7 |
28,693,496 (GRCm39) |
missense |
probably benign |
0.00 |
Z1177:Map4k1
|
UTSW |
7 |
28,699,433 (GRCm39) |
missense |
probably damaging |
0.97 |
|
Posted On |
2017-10-20 |