Incidental Mutation 'R6979:Map4k5'
| ID |
542624 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Map4k5
|
| Ensembl Gene |
ENSMUSG00000034761 |
| Gene Name |
mitogen-activated protein kinase kinase kinase kinase 5 |
| Synonyms |
KHS, GCKR, 4432415E19Rik, MAPKKKK5 |
| MMRRC Submission |
045087-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6979 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
69850531-69939937 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 69869622 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 488
(C488S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126006
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049239]
[ENSMUST00000110567]
[ENSMUST00000110570]
[ENSMUST00000171211]
|
| AlphaFold |
Q8BPM2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000049239
AA Change: C555S
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000047812
Gene: ENSMUSG00000034761
AA Change: C555S
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
20 |
277 |
4.07e-88 |
SMART |
|
low complexity region
|
389 |
396 |
N/A |
INTRINSIC |
|
low complexity region
|
471 |
482 |
N/A |
INTRINSIC |
|
CNH
|
512 |
827 |
4.57e-142 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110567
AA Change: C536S
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000106196
Gene: ENSMUSG00000034761
AA Change: C536S
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
20 |
277 |
4.07e-88 |
SMART |
|
low complexity region
|
370 |
377 |
N/A |
INTRINSIC |
|
low complexity region
|
452 |
463 |
N/A |
INTRINSIC |
|
CNH
|
493 |
808 |
3.98e-142 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110570
AA Change: C555S
PolyPhen 2
Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000106199
Gene: ENSMUSG00000034761
AA Change: C555S
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
20 |
277 |
4.07e-88 |
SMART |
|
low complexity region
|
389 |
396 |
N/A |
INTRINSIC |
|
low complexity region
|
471 |
482 |
N/A |
INTRINSIC |
|
CNH
|
512 |
827 |
3.98e-142 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000171211
AA Change: C488S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000126006
Gene: ENSMUSG00000034761
AA Change: C488S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase_Tyr
|
1 |
208 |
2e-32 |
PFAM |
|
Pfam:Pkinase
|
1 |
210 |
6.2e-52 |
PFAM |
|
low complexity region
|
322 |
329 |
N/A |
INTRINSIC |
|
low complexity region
|
404 |
415 |
N/A |
INTRINSIC |
|
CNH
|
445 |
760 |
4.57e-142 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.2%
|
| Validation Efficiency |
100% (50/50) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the serine/threonine protein kinase family, that is highly similar to yeast SPS1/STE20 kinase. Yeast SPS1/STE20 functions near the beginning of the MAP kinase signal cascades that is essential for yeast pheromone response. This kinase was shown to activate Jun kinase in mammalian cells, which suggested a role in stress response. Two alternatively spliced transcript variants encoding the same protein have been described for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele are viable and phenotypically normal but show impaired canonical and noncanonical Wnt signaling in progenitor B lymphocytes. Mice homozygous for a gene trap exhibit hypoalgesia, increased serum IgG1 and an increased percentage of peripheral blood CD4+ cells. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadac |
C |
T |
3: 59,947,424 (GRCm39) |
T374M |
probably benign |
Het |
| Aspg |
A |
G |
12: 112,087,378 (GRCm39) |
D278G |
possibly damaging |
Het |
| Aspm |
C |
A |
1: 139,408,223 (GRCm39) |
A2370E |
probably damaging |
Het |
| Ccnt2 |
T |
C |
1: 127,702,873 (GRCm39) |
M65T |
probably damaging |
Het |
| Cd163 |
A |
G |
6: 124,294,945 (GRCm39) |
T670A |
probably benign |
Het |
| Cpne3 |
G |
A |
4: 19,533,098 (GRCm39) |
T279I |
probably benign |
Het |
| Ctdspl |
G |
A |
9: 118,869,598 (GRCm39) |
V227M |
probably damaging |
Het |
| Ctnnd2 |
A |
G |
15: 30,619,376 (GRCm39) |
E99G |
probably damaging |
Het |
| Dapk1 |
T |
C |
13: 60,896,095 (GRCm39) |
S728P |
probably damaging |
Het |
| Dmxl2 |
A |
G |
9: 54,358,163 (GRCm39) |
I512T |
possibly damaging |
Het |
| Dop1a |
A |
T |
9: 86,403,695 (GRCm39) |
T1630S |
possibly damaging |
Het |
| Dqx1 |
A |
G |
6: 83,037,992 (GRCm39) |
D460G |
probably damaging |
Het |
| Foxg1 |
T |
C |
12: 49,431,567 (GRCm39) |
|
probably benign |
Het |
| H2-Q2 |
T |
A |
17: 35,564,623 (GRCm39) |
|
probably null |
Het |
| Hes6 |
T |
C |
1: 91,340,810 (GRCm39) |
E17G |
possibly damaging |
Het |
| Ighv1-42 |
T |
C |
12: 114,900,848 (GRCm39) |
Y79C |
possibly damaging |
Het |
| Itfg2 |
T |
C |
6: 128,388,554 (GRCm39) |
D311G |
probably damaging |
Het |
| Itgb5 |
T |
A |
16: 33,740,356 (GRCm39) |
C489S |
probably damaging |
Het |
| Mark1 |
C |
T |
1: 184,644,825 (GRCm39) |
G377D |
possibly damaging |
Het |
| Mat2a |
A |
G |
6: 72,412,096 (GRCm39) |
V318A |
probably damaging |
Het |
| Mpp7 |
T |
G |
18: 7,355,049 (GRCm39) |
N459T |
possibly damaging |
Het |
| Mrc2 |
C |
A |
11: 105,239,461 (GRCm39) |
N1348K |
probably damaging |
Het |
| Mroh5 |
T |
C |
15: 73,664,978 (GRCm39) |
K264R |
probably benign |
Het |
| Mtor |
A |
G |
4: 148,608,930 (GRCm39) |
M1529V |
possibly damaging |
Het |
| Mtrr |
C |
T |
13: 68,718,122 (GRCm39) |
|
probably null |
Het |
| Nwd1 |
C |
T |
8: 73,394,288 (GRCm39) |
P517L |
probably damaging |
Het |
| Or4a27 |
T |
A |
2: 88,559,528 (GRCm39) |
R138S |
probably benign |
Het |
| Or8h10 |
A |
G |
2: 86,808,577 (GRCm39) |
S188P |
probably damaging |
Het |
| Polr1c |
A |
G |
17: 46,557,095 (GRCm39) |
F63L |
probably damaging |
Het |
| Polrmt |
C |
T |
10: 79,582,400 (GRCm39) |
|
probably null |
Het |
| Pomt2 |
T |
C |
12: 87,177,125 (GRCm39) |
I287M |
probably damaging |
Het |
| Prkar2a |
T |
A |
9: 108,610,342 (GRCm39) |
N190K |
possibly damaging |
Het |
| Prl3d3 |
T |
A |
13: 27,341,545 (GRCm39) |
Y59N |
possibly damaging |
Het |
| Prl5a1 |
T |
A |
13: 28,335,189 (GRCm39) |
F199L |
probably benign |
Het |
| Prpf38b |
A |
G |
3: 108,818,640 (GRCm39) |
V40A |
probably benign |
Het |
| Ptchd1 |
T |
A |
X: 154,357,708 (GRCm39) |
Y499F |
probably damaging |
Het |
| Ptgs1 |
A |
G |
2: 36,141,311 (GRCm39) |
D586G |
probably benign |
Het |
| Slx4 |
T |
C |
16: 3,802,879 (GRCm39) |
K1312E |
probably damaging |
Het |
| Smok3c |
A |
G |
5: 138,062,987 (GRCm39) |
D158G |
probably benign |
Het |
| Spen |
A |
T |
4: 141,205,374 (GRCm39) |
D1084E |
unknown |
Het |
| Tcp11l1 |
C |
T |
2: 104,536,784 (GRCm39) |
G27D |
probably benign |
Het |
| Tep1 |
A |
G |
14: 51,076,094 (GRCm39) |
S1679P |
possibly damaging |
Het |
| Tmem259 |
C |
T |
10: 79,814,391 (GRCm39) |
V322I |
possibly damaging |
Het |
| Tmpo |
A |
T |
10: 90,988,359 (GRCm39) |
|
probably null |
Het |
| Ttn |
C |
A |
2: 76,555,137 (GRCm39) |
A30623S |
probably damaging |
Het |
| Ube2l3 |
G |
A |
16: 16,977,841 (GRCm39) |
|
probably benign |
Het |
| Unkl |
A |
G |
17: 25,418,890 (GRCm39) |
D146G |
probably damaging |
Het |
| Vmn1r51 |
A |
T |
6: 90,106,186 (GRCm39) |
H34L |
possibly damaging |
Het |
| Vmn2r17 |
A |
G |
5: 109,576,265 (GRCm39) |
T379A |
possibly damaging |
Het |
| Zfp35 |
G |
T |
18: 24,136,927 (GRCm39) |
G424C |
probably benign |
Het |
| Zfp420 |
T |
A |
7: 29,575,446 (GRCm39) |
H555Q |
probably damaging |
Het |
|
| Other mutations in Map4k5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00497:Map4k5
|
APN |
12 |
69,892,506 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01013:Map4k5
|
APN |
12 |
69,874,300 (GRCm39) |
splice site |
probably benign |
|
|
IGL01309:Map4k5
|
APN |
12 |
69,888,737 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02314:Map4k5
|
APN |
12 |
69,865,213 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02612:Map4k5
|
APN |
12 |
69,896,358 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
IGL02620:Map4k5
|
APN |
12 |
69,939,476 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02749:Map4k5
|
APN |
12 |
69,862,580 (GRCm39) |
missense |
probably benign |
0.25 |
|
R0662:Map4k5
|
UTSW |
12 |
69,859,927 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0731:Map4k5
|
UTSW |
12 |
69,921,038 (GRCm39) |
intron |
probably benign |
|
|
R0828:Map4k5
|
UTSW |
12 |
69,852,100 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1026:Map4k5
|
UTSW |
12 |
69,921,062 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1178:Map4k5
|
UTSW |
12 |
69,863,152 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1464:Map4k5
|
UTSW |
12 |
69,852,124 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1464:Map4k5
|
UTSW |
12 |
69,852,124 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1615:Map4k5
|
UTSW |
12 |
69,891,187 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1632:Map4k5
|
UTSW |
12 |
69,874,821 (GRCm39) |
missense |
probably benign |
|
|
R1652:Map4k5
|
UTSW |
12 |
69,877,201 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1677:Map4k5
|
UTSW |
12 |
69,852,082 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1835:Map4k5
|
UTSW |
12 |
69,871,436 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1895:Map4k5
|
UTSW |
12 |
69,892,529 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1946:Map4k5
|
UTSW |
12 |
69,892,529 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1968:Map4k5
|
UTSW |
12 |
69,865,266 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1971:Map4k5
|
UTSW |
12 |
69,873,102 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R1987:Map4k5
|
UTSW |
12 |
69,889,686 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2070:Map4k5
|
UTSW |
12 |
69,863,111 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2471:Map4k5
|
UTSW |
12 |
69,903,620 (GRCm39) |
missense |
probably benign |
0.30 |
|
R3417:Map4k5
|
UTSW |
12 |
69,856,038 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4133:Map4k5
|
UTSW |
12 |
69,892,497 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4331:Map4k5
|
UTSW |
12 |
69,874,148 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4388:Map4k5
|
UTSW |
12 |
69,892,583 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4685:Map4k5
|
UTSW |
12 |
69,858,140 (GRCm39) |
missense |
probably benign |
|
|
R4760:Map4k5
|
UTSW |
12 |
69,871,372 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R4822:Map4k5
|
UTSW |
12 |
69,888,758 (GRCm39) |
nonsense |
probably null |
|
|
R4863:Map4k5
|
UTSW |
12 |
69,865,212 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4971:Map4k5
|
UTSW |
12 |
69,899,493 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R5038:Map4k5
|
UTSW |
12 |
69,871,388 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5055:Map4k5
|
UTSW |
12 |
69,878,332 (GRCm39) |
missense |
probably benign |
|
|
R5248:Map4k5
|
UTSW |
12 |
69,888,755 (GRCm39) |
missense |
probably benign |
0.36 |
|
R5428:Map4k5
|
UTSW |
12 |
69,884,787 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5697:Map4k5
|
UTSW |
12 |
69,877,210 (GRCm39) |
missense |
probably benign |
|
|
R5757:Map4k5
|
UTSW |
12 |
69,871,429 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5955:Map4k5
|
UTSW |
12 |
69,891,164 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6258:Map4k5
|
UTSW |
12 |
69,878,336 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6259:Map4k5
|
UTSW |
12 |
69,899,514 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6260:Map4k5
|
UTSW |
12 |
69,878,336 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6796:Map4k5
|
UTSW |
12 |
69,864,799 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7164:Map4k5
|
UTSW |
12 |
69,877,210 (GRCm39) |
missense |
probably benign |
|
|
R7184:Map4k5
|
UTSW |
12 |
69,921,095 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7598:Map4k5
|
UTSW |
12 |
69,871,412 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R8395:Map4k5
|
UTSW |
12 |
69,877,203 (GRCm39) |
missense |
probably null |
|
|
R8445:Map4k5
|
UTSW |
12 |
69,897,741 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8757:Map4k5
|
UTSW |
12 |
69,897,598 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R8827:Map4k5
|
UTSW |
12 |
69,903,635 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8896:Map4k5
|
UTSW |
12 |
69,870,275 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8898:Map4k5
|
UTSW |
12 |
69,859,931 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9224:Map4k5
|
UTSW |
12 |
69,939,467 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R9563:Map4k5
|
UTSW |
12 |
69,863,167 (GRCm39) |
missense |
probably benign |
0.40 |
|
RF002:Map4k5
|
UTSW |
12 |
69,903,630 (GRCm39) |
missense |
probably damaging |
0.96 |
|
X0062:Map4k5
|
UTSW |
12 |
69,871,381 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGGGAAATGTAGCCCTCAC -3'
(R):5'- TAAGATGGTACTGTCTTCATGTCG -3'
Sequencing Primer
(F):5'- TCACAGAAGACCCAATCCTTTTTC -3'
(R):5'- TTATACCACTTGTTTTGTTTTGCG -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation