Incidental Mutation 'R6475:Map4k1'
| ID |
517374 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Map4k1
|
| Ensembl Gene |
ENSMUSG00000037337 |
| Gene Name |
mitogen-activated protein kinase kinase kinase kinase 1 |
| Synonyms |
Hpk1 |
| MMRRC Submission |
044608-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6475 (G1)
|
| Quality Score |
216.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
28681475-28702704 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 28686447 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 105
(V105A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146807
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085835]
[ENSMUST00000207185]
[ENSMUST00000208227]
|
| AlphaFold |
P70218 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000085835
AA Change: V151A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000082995
Gene: ENSMUSG00000037337
AA Change: V151A
| 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: V151A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000208227
AA Change: V105A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.5%
- 20x: 92.0%
|
| Validation Efficiency |
96% (54/56) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Asb5 |
T |
A |
8: 55,003,610 (GRCm39) |
V44E |
probably damaging |
Het |
| Bmpr2 |
T |
A |
1: 59,907,503 (GRCm39) |
D865E |
probably damaging |
Het |
| Ccr4 |
A |
G |
9: 114,322,047 (GRCm39) |
V6A |
probably benign |
Het |
| Cd209a |
A |
T |
8: 3,797,031 (GRCm39) |
D102E |
probably damaging |
Het |
| Cdh18 |
A |
G |
15: 23,227,022 (GRCm39) |
D161G |
possibly damaging |
Het |
| Cog4 |
T |
A |
8: 111,607,526 (GRCm39) |
I671N |
possibly damaging |
Het |
| Col14a1 |
T |
G |
15: 55,309,218 (GRCm39) |
|
probably benign |
Het |
| Cpne6 |
A |
G |
14: 55,751,110 (GRCm39) |
D173G |
probably damaging |
Het |
| Daglb |
G |
T |
5: 143,467,406 (GRCm39) |
V275L |
probably benign |
Het |
| Defb43 |
G |
T |
14: 63,249,321 (GRCm39) |
|
probably null |
Het |
| Dhx30 |
A |
G |
9: 109,914,120 (GRCm39) |
V1022A |
possibly damaging |
Het |
| Egfem1 |
A |
T |
3: 29,711,312 (GRCm39) |
K297M |
probably damaging |
Het |
| Egfr |
A |
G |
11: 16,841,259 (GRCm39) |
I717V |
probably benign |
Het |
| Eif2ak1 |
T |
G |
5: 143,803,765 (GRCm39) |
|
probably null |
Het |
| Epb42 |
T |
C |
2: 120,857,614 (GRCm39) |
Y307C |
possibly damaging |
Het |
| Erlec1 |
G |
A |
11: 30,898,442 (GRCm39) |
Q10* |
probably null |
Het |
| Fam185a |
A |
G |
5: 21,630,281 (GRCm39) |
D39G |
probably benign |
Het |
| Fbxl4 |
T |
A |
4: 22,433,661 (GRCm39) |
D599E |
probably damaging |
Het |
| Fgfr2 |
T |
A |
7: 129,802,850 (GRCm39) |
T268S |
probably benign |
Het |
| Gabra1 |
A |
T |
11: 42,053,382 (GRCm39) |
M84K |
probably benign |
Het |
| Gba1 |
A |
G |
3: 89,113,235 (GRCm39) |
D222G |
probably benign |
Het |
| Gm3409 |
T |
A |
5: 146,474,596 (GRCm39) |
H37Q |
possibly damaging |
Het |
| Gm4559 |
A |
G |
7: 141,827,887 (GRCm39) |
C72R |
unknown |
Het |
| Grik4 |
T |
C |
9: 42,540,304 (GRCm39) |
N292S |
probably benign |
Het |
| Haao |
A |
G |
17: 84,139,113 (GRCm39) |
S274P |
possibly damaging |
Het |
| Hsd17b4 |
T |
A |
18: 50,305,329 (GRCm39) |
|
probably null |
Het |
| Igdcc4 |
A |
T |
9: 65,027,603 (GRCm39) |
S222C |
probably damaging |
Het |
| Iqub |
T |
A |
6: 24,449,744 (GRCm39) |
N707I |
probably damaging |
Het |
| Itgb7 |
T |
A |
15: 102,124,701 (GRCm39) |
D772V |
probably benign |
Het |
| Kif14 |
T |
C |
1: 136,455,149 (GRCm39) |
L1607P |
probably damaging |
Het |
| Klf5 |
A |
G |
14: 99,538,817 (GRCm39) |
T77A |
probably benign |
Het |
| Klhl29 |
C |
T |
12: 5,141,030 (GRCm39) |
V605I |
probably damaging |
Het |
| Mctp2 |
A |
T |
7: 71,850,092 (GRCm39) |
|
probably null |
Het |
| Med12l |
A |
G |
3: 59,164,500 (GRCm39) |
E1364G |
probably damaging |
Het |
| Mup9 |
A |
T |
4: 60,375,805 (GRCm39) |
D30E |
possibly damaging |
Het |
| Naip1 |
T |
C |
13: 100,545,596 (GRCm39) |
R1311G |
probably damaging |
Het |
| Or2ag2 |
A |
G |
7: 106,485,604 (GRCm39) |
V140A |
probably benign |
Het |
| Or2v1 |
C |
T |
11: 49,025,760 (GRCm39) |
T247I |
probably benign |
Het |
| Or4f14 |
G |
A |
2: 111,743,204 (GRCm39) |
Q24* |
probably null |
Het |
| Or8g28 |
T |
A |
9: 39,169,378 (GRCm39) |
M197L |
probably benign |
Het |
| Pkd1l3 |
A |
C |
8: 110,349,844 (GRCm39) |
T230P |
unknown |
Het |
| Pthlh |
G |
T |
6: 147,158,688 (GRCm39) |
H91N |
probably damaging |
Het |
| Rapgef5 |
T |
A |
12: 117,681,942 (GRCm39) |
V239D |
probably damaging |
Het |
| Rita1 |
G |
A |
5: 120,749,635 (GRCm39) |
T26I |
probably damaging |
Het |
| Robo3 |
T |
C |
9: 37,334,586 (GRCm39) |
T615A |
probably damaging |
Het |
| Rpp38 |
T |
C |
2: 3,330,644 (GRCm39) |
D86G |
probably benign |
Het |
| Sec31a |
T |
C |
5: 100,533,129 (GRCm39) |
T539A |
probably damaging |
Het |
| Senp2 |
G |
T |
16: 21,842,550 (GRCm39) |
V205L |
probably damaging |
Het |
| Septin10 |
T |
C |
10: 59,028,133 (GRCm39) |
N63D |
possibly damaging |
Het |
| Sez6 |
A |
G |
11: 77,864,670 (GRCm39) |
|
|
Het |
| Spesp1 |
C |
T |
9: 62,179,715 (GRCm39) |
V398I |
probably benign |
Het |
| Tmbim7 |
G |
A |
5: 3,714,319 (GRCm39) |
G19S |
probably benign |
Het |
| Tnni3k |
A |
T |
3: 154,646,695 (GRCm39) |
L431* |
probably null |
Het |
| Trdn |
T |
A |
10: 33,340,551 (GRCm39) |
|
probably null |
Het |
| Tubb2a |
A |
G |
13: 34,259,442 (GRCm39) |
V116A |
possibly damaging |
Het |
| Ush1c |
T |
C |
7: 45,878,643 (GRCm39) |
D124G |
probably damaging |
Het |
| Zfp768 |
A |
T |
7: 126,943,827 (GRCm39) |
F103L |
probably damaging |
Het |
| Zfp799 |
A |
G |
17: 33,039,820 (GRCm39) |
S149P |
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 |
|
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 |
|
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'- ACATCGAGACATCAAGGTAGAC -3'
(R):5'- CGGTCTTTAGTAGGAGAAGGC -3'
Sequencing Primer
(F):5'- GGCCTGCCAACTCATTTT -3'
(R):5'- GGAATGCCCCTGTTCCC -3'
|
| Posted On |
2018-05-21 |
Incidental Mutation