Incidental Mutation 'IGL03199:Map4k1'
| ID |
412935 |
| 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 # |
IGL03199
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
28681475-28702704 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 28682842 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 16
(E16G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146807
(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 damaging
Transcript: ENSMUST00000085835
AA Change: E62G
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000082995
Gene: ENSMUSG00000037337
AA Change: E62G
| 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 damaging
Transcript: ENSMUST00000207185
AA Change: E62G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207683
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207762
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000208227
AA Change: E16G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| 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: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930407I10Rik |
T |
C |
15: 81,946,556 (GRCm39) |
I151T |
possibly damaging |
Het |
| Alms1 |
T |
A |
6: 85,599,479 (GRCm39) |
M1904K |
possibly damaging |
Het |
| Chsy3 |
T |
A |
18: 59,309,473 (GRCm39) |
F242Y |
probably damaging |
Het |
| Cwf19l2 |
G |
A |
9: 3,477,830 (GRCm39) |
G845D |
probably damaging |
Het |
| Cyfip2 |
A |
G |
11: 46,167,670 (GRCm39) |
I244T |
probably benign |
Het |
| Dnah10 |
A |
T |
5: 124,894,761 (GRCm39) |
Q3499L |
probably benign |
Het |
| Fat3 |
A |
G |
9: 16,288,344 (GRCm39) |
V393A |
possibly damaging |
Het |
| Fcamr |
T |
A |
1: 130,740,655 (GRCm39) |
V358D |
probably damaging |
Het |
| Fndc3c1 |
T |
A |
X: 105,479,993 (GRCm39) |
K696N |
possibly damaging |
Het |
| Igkv2-112 |
G |
A |
6: 68,197,000 (GRCm39) |
M12I |
probably benign |
Het |
| Macc1 |
T |
C |
12: 119,410,156 (GRCm39) |
M308T |
probably benign |
Het |
| Myl7 |
C |
T |
11: 5,848,205 (GRCm39) |
G50R |
probably damaging |
Het |
| Ncapg2 |
T |
A |
12: 116,382,856 (GRCm39) |
L229H |
probably damaging |
Het |
| Or10d4b |
A |
G |
9: 39,535,240 (GRCm39) |
I272V |
probably benign |
Het |
| Prkcz |
A |
G |
4: 155,357,441 (GRCm39) |
F157L |
possibly damaging |
Het |
| Sult2a1 |
C |
A |
7: 13,566,585 (GRCm39) |
G130V |
probably damaging |
Het |
| Trim27 |
G |
A |
13: 21,375,421 (GRCm39) |
|
probably null |
Het |
| Trim43b |
T |
G |
9: 88,971,481 (GRCm39) |
Q225P |
probably damaging |
Het |
| Ugt2b34 |
A |
G |
5: 87,054,739 (GRCm39) |
L14P |
unknown |
Het |
| Vmn1r209 |
A |
T |
13: 22,990,220 (GRCm39) |
S157T |
possibly damaging |
Het |
| Vmn2r38 |
A |
T |
7: 9,078,375 (GRCm39) |
V669D |
probably damaging |
Het |
| Vps35l |
T |
C |
7: 118,365,611 (GRCm39) |
S15P |
probably benign |
Het |
| Zfp422 |
T |
C |
6: 116,603,912 (GRCm39) |
Q29R |
probably benign |
Het |
| Zfp623 |
C |
T |
15: 75,819,119 (GRCm39) |
A25V |
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 |
|
IGL03493:Map4k1
|
APN |
7 |
28,683,576 (GRCm39) |
unclassified |
probably benign |
|
|
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 |
2016-08-02 |
Incidental Mutation