Incidental Mutation 'R9518:Map4k1'
| ID |
718712 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Map4k1
|
| Ensembl Gene |
ENSMUSG00000037337 |
| Gene Name |
mitogen-activated protein kinase kinase kinase kinase 1 |
| Synonyms |
Hpk1 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9518 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
28681475-28702704 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 28693496 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 433
(R433H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000082995
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085835]
[ENSMUST00000207185]
[ENSMUST00000208227]
|
| AlphaFold |
P70218 |
| PDB Structure |
MONA/GADS SH3C IN COMPLEX WITH HPK DERIVED PEPTIDE [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000085835
AA Change: R433H
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000082995
Gene: ENSMUSG00000037337
AA Change: R433H
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208227
AA Change: R387H
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcf2 |
T |
C |
5: 24,771,560 (GRCm39) |
T556A |
possibly damaging |
Het |
| B230104I21Rik |
G |
T |
4: 154,434,004 (GRCm39) |
E63* |
probably null |
Het |
| Brd10 |
A |
T |
19: 29,731,541 (GRCm39) |
H490Q |
possibly damaging |
Het |
| Brpf1 |
A |
G |
6: 113,286,795 (GRCm39) |
K8E |
possibly damaging |
Het |
| Cacna1i |
G |
A |
15: 80,271,978 (GRCm39) |
G1582D |
probably damaging |
Het |
| Ccdc162 |
T |
A |
10: 41,465,572 (GRCm39) |
D1428V |
probably damaging |
Het |
| Ccdc178 |
G |
A |
18: 22,278,516 (GRCm39) |
T69I |
possibly damaging |
Het |
| Ccdc62 |
T |
A |
5: 124,089,288 (GRCm39) |
L309I |
possibly damaging |
Het |
| Ces5a |
T |
C |
8: 94,257,430 (GRCm39) |
N125S |
probably damaging |
Het |
| Cps1 |
G |
T |
1: 67,259,662 (GRCm39) |
V1335L |
probably damaging |
Het |
| Desi2 |
A |
G |
1: 178,015,492 (GRCm39) |
N4S |
probably benign |
Het |
| Dlx6 |
C |
A |
6: 6,863,406 (GRCm39) |
D9E |
probably damaging |
Het |
| Dnah12 |
A |
C |
14: 26,495,713 (GRCm39) |
D198A |
probably damaging |
Het |
| Dnah8 |
CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT |
CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT |
17: 30,979,841 (GRCm39) |
|
probably null |
Het |
| Dpp8 |
T |
C |
9: 64,981,866 (GRCm39) |
M716T |
possibly damaging |
Het |
| Dvl3 |
T |
A |
16: 20,335,961 (GRCm39) |
I6N |
possibly damaging |
Het |
| Egflam |
A |
G |
15: 7,319,263 (GRCm39) |
|
probably null |
Het |
| Eprs1 |
A |
T |
1: 185,111,763 (GRCm39) |
M258L |
probably benign |
Het |
| Etnk1 |
A |
T |
6: 143,149,144 (GRCm39) |
M352L |
probably benign |
Het |
| Fam124a |
A |
C |
14: 62,824,947 (GRCm39) |
D147A |
probably damaging |
Het |
| Fstl4 |
A |
G |
11: 53,056,647 (GRCm39) |
D468G |
possibly damaging |
Het |
| Grm8 |
T |
A |
6: 27,429,469 (GRCm39) |
Q475L |
probably benign |
Het |
| Kel |
T |
C |
6: 41,679,334 (GRCm39) |
E143G |
probably damaging |
Het |
| Kif21a |
A |
G |
15: 90,840,676 (GRCm39) |
Y1147H |
probably damaging |
Het |
| Kndc1 |
A |
G |
7: 139,519,827 (GRCm39) |
K1729E |
probably damaging |
Het |
| Mettl14 |
T |
C |
3: 123,167,687 (GRCm39) |
I224V |
probably benign |
Het |
| Mgat5b |
A |
G |
11: 116,869,299 (GRCm39) |
N614S |
probably benign |
Het |
| Mlh3 |
C |
T |
12: 85,313,004 (GRCm39) |
V1061I |
probably benign |
Het |
| Mtcl3 |
T |
A |
10: 29,022,748 (GRCm39) |
C32S |
probably benign |
Het |
| Myo1h |
T |
C |
5: 114,497,588 (GRCm39) |
V27A |
probably damaging |
Het |
| Naip5 |
A |
T |
13: 100,358,367 (GRCm39) |
H956Q |
probably benign |
Het |
| Or11h7 |
A |
T |
14: 50,891,101 (GRCm39) |
M136L |
probably damaging |
Het |
| Or13p3 |
A |
G |
4: 118,567,120 (GRCm39) |
N172S |
probably damaging |
Het |
| Pcdh7 |
A |
T |
5: 58,070,513 (GRCm39) |
T1064S |
possibly damaging |
Het |
| Peg3 |
T |
C |
7: 6,714,280 (GRCm39) |
E314G |
probably benign |
Het |
| Perm1 |
TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT |
TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT |
4: 156,302,525 (GRCm39) |
|
probably benign |
Het |
| Pgr |
A |
T |
9: 8,922,645 (GRCm39) |
D605V |
probably damaging |
Het |
| Prdm2 |
T |
C |
4: 142,860,579 (GRCm39) |
S904G |
possibly damaging |
Het |
| Prpf8 |
T |
C |
11: 75,394,486 (GRCm39) |
I1807T |
possibly damaging |
Het |
| Serpinb3c |
T |
A |
1: 107,200,468 (GRCm39) |
Q225L |
probably damaging |
Het |
| Strn3 |
A |
C |
12: 51,696,956 (GRCm39) |
D258E |
probably damaging |
Het |
| Tent2 |
A |
G |
13: 93,320,612 (GRCm39) |
I147T |
probably benign |
Het |
| Tgm2 |
C |
T |
2: 157,985,049 (GRCm39) |
R19H |
probably benign |
Het |
| Themis |
T |
A |
10: 28,544,748 (GRCm39) |
|
probably null |
Het |
| Trim28 |
C |
T |
7: 12,764,445 (GRCm39) |
P753S |
probably damaging |
Het |
| Vac14 |
C |
T |
8: 111,442,070 (GRCm39) |
Q683* |
probably null |
Het |
| Vwa1 |
G |
A |
4: 155,857,336 (GRCm39) |
P154L |
probably damaging |
Het |
| Zfp541 |
T |
C |
7: 15,813,036 (GRCm39) |
I563T |
possibly 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 |
|
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 |
|
Z1177:Map4k1
|
UTSW |
7 |
28,699,433 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGGGGTATGAGGTACACTGTC -3'
(R):5'- TGTCACCTATCAGATGCCACC -3'
Sequencing Primer
(F):5'- ATGAGGTACACTGTCTTCTGGAACC -3'
(R):5'- AGGCCGGTAGCTAGCTCTTAC -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation