Incidental Mutation 'R5124:Map4k1'
| ID |
393445 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Map4k1
|
| Ensembl Gene |
ENSMUSG00000037337 |
| Gene Name |
mitogen-activated protein kinase kinase kinase kinase 1 |
| Synonyms |
Hpk1 |
| MMRRC Submission |
042712-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5124 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
28681475-28702704 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 28688257 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 223
(L223P)
|
| 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: L269P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000082995
Gene: ENSMUSG00000037337
AA Change: L269P
| 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: L269P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000208227
AA Change: L223P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.8543 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.5%
|
| Validation Efficiency |
100% (60/60) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm4 |
A |
T |
4: 144,401,289 (GRCm39) |
I65N |
probably damaging |
Het |
| Adpgk |
A |
G |
9: 59,222,561 (GRCm39) |
D496G |
possibly damaging |
Het |
| Agbl4 |
A |
G |
4: 111,513,525 (GRCm39) |
M424V |
probably benign |
Het |
| Akap10 |
C |
T |
11: 61,807,015 (GRCm39) |
A72T |
probably damaging |
Het |
| Bpifa3 |
C |
T |
2: 153,980,057 (GRCm39) |
Q230* |
probably null |
Het |
| Cog4 |
G |
T |
8: 111,573,825 (GRCm39) |
R48L |
probably damaging |
Het |
| Cop1 |
A |
G |
1: 159,105,682 (GRCm39) |
Y33C |
probably damaging |
Het |
| Cyp26a1 |
A |
T |
19: 37,689,665 (GRCm39) |
I454L |
probably benign |
Het |
| Ddr1 |
T |
C |
17: 35,994,489 (GRCm39) |
H762R |
probably damaging |
Het |
| Dnajc2 |
A |
T |
5: 21,968,482 (GRCm39) |
S328T |
probably benign |
Het |
| Dppa2 |
G |
T |
16: 48,131,986 (GRCm39) |
V28F |
probably damaging |
Het |
| Dusp15 |
T |
A |
2: 152,793,275 (GRCm39) |
M1L |
possibly damaging |
Het |
| Eml5 |
G |
A |
12: 98,758,301 (GRCm39) |
T1875M |
probably damaging |
Het |
| Fam186a |
A |
G |
15: 99,840,977 (GRCm39) |
S1756P |
possibly damaging |
Het |
| Gm5431 |
T |
A |
11: 48,779,866 (GRCm39) |
Q630L |
probably benign |
Het |
| H6pd |
A |
G |
4: 150,066,512 (GRCm39) |
S625P |
possibly damaging |
Het |
| Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
| Kcnj6 |
G |
T |
16: 94,633,518 (GRCm39) |
P180T |
probably damaging |
Het |
| Lpin3 |
T |
A |
2: 160,738,981 (GRCm39) |
M263K |
probably benign |
Het |
| Lrp2 |
A |
T |
2: 69,331,834 (GRCm39) |
D1640E |
probably damaging |
Het |
| Lypd2 |
C |
T |
15: 74,604,347 (GRCm39) |
A74T |
probably benign |
Het |
| Myh7 |
A |
T |
14: 55,223,199 (GRCm39) |
Y715* |
probably null |
Het |
| Myo9b |
T |
C |
8: 71,808,483 (GRCm39) |
S1697P |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,171,510 (GRCm39) |
E1661G |
probably damaging |
Het |
| Nek8 |
A |
T |
11: 78,063,765 (GRCm39) |
M80K |
probably damaging |
Het |
| Nup188 |
T |
A |
2: 30,220,947 (GRCm39) |
L979Q |
probably damaging |
Het |
| Or4c113 |
A |
T |
2: 88,885,431 (GRCm39) |
V113D |
probably damaging |
Het |
| P4htm |
T |
A |
9: 108,459,141 (GRCm39) |
S264C |
possibly damaging |
Het |
| Pcdha8 |
A |
G |
18: 37,126,768 (GRCm39) |
T417A |
probably benign |
Het |
| Pclo |
T |
C |
5: 14,727,406 (GRCm39) |
|
probably benign |
Het |
| Prox1 |
T |
A |
1: 189,893,476 (GRCm39) |
N323I |
possibly damaging |
Het |
| Prune2 |
A |
T |
19: 17,177,274 (GRCm39) |
R222S |
probably damaging |
Het |
| Psmd2 |
C |
A |
16: 20,471,448 (GRCm39) |
R100S |
possibly damaging |
Het |
| Qrich2 |
A |
T |
11: 116,337,599 (GRCm39) |
M1963K |
probably damaging |
Het |
| Rbm39 |
C |
T |
2: 156,001,082 (GRCm39) |
G324D |
probably damaging |
Het |
| Rhobtb1 |
A |
T |
10: 69,105,731 (GRCm39) |
|
probably null |
Het |
| Rhov |
G |
T |
2: 119,101,568 (GRCm39) |
P13T |
unknown |
Het |
| Sec14l3 |
A |
G |
11: 4,025,209 (GRCm39) |
D273G |
possibly damaging |
Het |
| Sirpd |
T |
A |
3: 15,385,639 (GRCm39) |
R88* |
probably null |
Het |
| Slco2a1 |
T |
A |
9: 102,927,365 (GRCm39) |
I86N |
probably damaging |
Het |
| Smg1 |
A |
T |
7: 117,812,235 (GRCm39) |
S19T |
probably benign |
Het |
| Stk32a |
T |
C |
18: 43,438,082 (GRCm39) |
S194P |
probably benign |
Het |
| Syna |
G |
A |
5: 134,588,424 (GRCm39) |
S175L |
possibly damaging |
Het |
| Taf4 |
G |
A |
2: 179,573,822 (GRCm39) |
T682M |
probably damaging |
Het |
| Tmem151b |
T |
C |
17: 45,858,045 (GRCm39) |
Y67C |
probably damaging |
Het |
| Tshz1 |
C |
T |
18: 84,033,592 (GRCm39) |
R272Q |
probably damaging |
Het |
| Tti1 |
A |
G |
2: 157,850,115 (GRCm39) |
S375P |
probably damaging |
Het |
| Vcan |
T |
C |
13: 89,873,636 (GRCm39) |
K73E |
probably damaging |
Het |
| Vmn1r202 |
C |
T |
13: 22,685,920 (GRCm39) |
V166I |
probably benign |
Het |
| Vmn2r10 |
A |
G |
5: 109,154,286 (GRCm39) |
V6A |
probably benign |
Het |
| Zfhx4 |
A |
G |
3: 5,307,107 (GRCm39) |
D111G |
probably damaging |
Het |
| Zhx1 |
C |
G |
15: 57,917,470 (GRCm39) |
G259R |
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 |
|
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'- CTCCTCGGCTGAAGGAAAAG -3'
(R):5'- TCCAAGATCAGGCCTCTGTTC -3'
Sequencing Primer
(F):5'- CAGATGGTAAGGGAGATGACTTG -3'
(R):5'- CAGGGTCTCATGTAACTCAGGCTAG -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation