Incidental Mutation 'R1305:Map4k1'
| ID |
157775 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Map4k1
|
| Ensembl Gene |
ENSMUSG00000037337 |
| Gene Name |
mitogen-activated protein kinase kinase kinase kinase 1 |
| Synonyms |
Hpk1 |
| MMRRC Submission |
039371-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1305 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
28681475-28702704 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 28694890 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 435
(M435L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146807
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085835]
[ENSMUST00000207185]
[ENSMUST00000208227]
|
| AlphaFold |
P70218 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000085835
AA Change: M481L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000082995
Gene: ENSMUSG00000037337
AA Change: M481L
| 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
AA Change: M481L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208227
AA Change: M435L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.2%
- 10x: 96.1%
- 20x: 91.9%
|
| 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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atxn2 |
G |
A |
5: 121,887,247 (GRCm39) |
V306I |
probably damaging |
Het |
| Enc1 |
T |
C |
13: 97,383,208 (GRCm39) |
Y573H |
possibly damaging |
Het |
| Gm9869 |
T |
C |
9: 60,729,168 (GRCm39) |
|
probably benign |
Het |
| Ifna2 |
T |
C |
4: 88,601,614 (GRCm39) |
T135A |
probably benign |
Het |
| Ifngr1 |
C |
T |
10: 19,482,001 (GRCm39) |
T197M |
possibly damaging |
Het |
| Kcnj4 |
A |
T |
15: 79,369,020 (GRCm39) |
V320E |
probably damaging |
Het |
| Map2 |
T |
A |
1: 66,464,554 (GRCm39) |
I1648N |
probably damaging |
Het |
| Mark3 |
T |
A |
12: 111,581,880 (GRCm39) |
|
probably null |
Het |
| Mex3c |
T |
A |
18: 73,723,306 (GRCm39) |
F466L |
probably benign |
Het |
| Msl3l2 |
T |
C |
10: 55,991,631 (GRCm39) |
C119R |
probably damaging |
Het |
| Msln |
T |
C |
17: 25,972,001 (GRCm39) |
E72G |
probably benign |
Het |
| Nid2 |
T |
C |
14: 19,818,930 (GRCm39) |
S475P |
probably benign |
Het |
| Nme8 |
T |
A |
13: 19,881,077 (GRCm39) |
N18I |
possibly damaging |
Het |
| Nwd2 |
G |
T |
5: 63,902,540 (GRCm39) |
W86L |
probably damaging |
Het |
| Or4p21 |
A |
T |
2: 88,276,646 (GRCm39) |
L212* |
probably null |
Het |
| Or7a37 |
T |
C |
10: 78,805,933 (GRCm39) |
I150T |
probably benign |
Het |
| Pard3 |
T |
A |
8: 128,032,891 (GRCm39) |
S162T |
possibly damaging |
Het |
| Ppm1a |
C |
A |
12: 72,830,494 (GRCm39) |
D6E |
probably damaging |
Het |
| Rcor3 |
C |
T |
1: 191,800,646 (GRCm39) |
V312I |
possibly damaging |
Het |
| Rgs20 |
T |
A |
1: 5,091,262 (GRCm39) |
|
probably null |
Het |
| Slc11a2 |
C |
A |
15: 100,307,963 (GRCm39) |
|
probably null |
Het |
| Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
| Vmn1r124 |
C |
A |
7: 20,994,188 (GRCm39) |
V119F |
probably benign |
Het |
| Zfp827 |
A |
G |
8: 79,787,523 (GRCm39) |
T230A |
possibly damaging |
Het |
| Zfp945 |
T |
C |
17: 23,071,360 (GRCm39) |
K180E |
probably damaging |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCAGCCTAGTCCAGTTCAACAGTG -3'
(R):5'- TACAGAGTTCAGAATCTGCCCGTGC -3'
Sequencing Primer
(F):5'- ACAGTGAggggctgggg -3'
(R):5'- cctgaccctcttgcttcc -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation