Incidental Mutation 'R8949:Map3k13'
| ID |
681539 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Map3k13
|
| Ensembl Gene |
ENSMUSG00000033618 |
| Gene Name |
mitogen-activated protein kinase kinase kinase 13 |
| Synonyms |
C130026N12Rik |
| MMRRC Submission |
068787-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8949 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
21643923-21752189 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 21723882 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 288
(H288R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000156202
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042065]
[ENSMUST00000231988]
[ENSMUST00000232240]
|
| AlphaFold |
Q1HKZ5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042065
AA Change: H288R
PolyPhen 2
Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000047388
Gene: ENSMUSG00000033618
AA Change: H288R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
18 |
N/A |
INTRINSIC |
|
low complexity region
|
119 |
137 |
N/A |
INTRINSIC |
|
Pfam:Pkinase
|
167 |
406 |
3.1e-60 |
PFAM |
|
Pfam:Pkinase_Tyr
|
167 |
406 |
2.4e-65 |
PFAM |
|
coiled coil region
|
456 |
502 |
N/A |
INTRINSIC |
|
low complexity region
|
578 |
599 |
N/A |
INTRINSIC |
|
low complexity region
|
632 |
649 |
N/A |
INTRINSIC |
|
low complexity region
|
805 |
821 |
N/A |
INTRINSIC |
|
low complexity region
|
833 |
843 |
N/A |
INTRINSIC |
|
low complexity region
|
932 |
945 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231988
AA Change: H288R
PolyPhen 2
Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232240
AA Change: H288R
PolyPhen 2
Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (52/52) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of serine/threonine protein kinase family. This kinase contains a dual leucine-zipper motif, and has been shown to form dimers/oligomers through its leucine-zipper motif. This kinase can phosphorylate and activate MAPK8/JNK, MAP2K7/MKK7, which suggests a role in the JNK signaling pathway. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afm |
T |
A |
5: 90,679,374 (GRCm39) |
C289* |
probably null |
Het |
| Agpat3 |
A |
G |
10: 78,118,989 (GRCm39) |
Y202H |
probably benign |
Het |
| Atg4b |
T |
A |
1: 93,715,479 (GRCm39) |
*394R |
probably null |
Het |
| Atxn2l |
A |
T |
7: 126,091,377 (GRCm39) |
H1037Q |
probably damaging |
Het |
| Baz1a |
T |
C |
12: 54,941,238 (GRCm39) |
Y1504C |
probably damaging |
Het |
| Bfsp2 |
T |
C |
9: 103,327,152 (GRCm39) |
N195S |
probably benign |
Het |
| Bmpr1b |
T |
G |
3: 141,586,203 (GRCm39) |
S20R |
possibly damaging |
Het |
| Bmpr2 |
C |
T |
1: 59,906,860 (GRCm39) |
P651L |
possibly damaging |
Het |
| Cfh |
G |
T |
1: 140,026,705 (GRCm39) |
D549E |
probably damaging |
Het |
| Cndp2 |
A |
G |
18: 84,693,130 (GRCm39) |
L210P |
probably damaging |
Het |
| Col12a1 |
C |
A |
9: 79,581,970 (GRCm39) |
R1427L |
probably benign |
Het |
| Col6a5 |
C |
T |
9: 105,822,833 (GRCm39) |
E175K |
unknown |
Het |
| Dhx32 |
A |
T |
7: 133,344,470 (GRCm39) |
Y46* |
probably null |
Het |
| Dnah9 |
A |
G |
11: 66,059,226 (GRCm39) |
L23P |
possibly damaging |
Het |
| Eef2 |
T |
A |
10: 81,014,518 (GRCm39) |
V135E |
probably damaging |
Het |
| Eef2k |
A |
T |
7: 120,491,211 (GRCm39) |
I2F |
probably damaging |
Het |
| Gzmg |
C |
T |
14: 56,396,926 (GRCm39) |
|
probably null |
Het |
| Hr |
T |
C |
14: 70,795,328 (GRCm39) |
I320T |
probably benign |
Het |
| Hs3st2 |
A |
G |
7: 121,100,017 (GRCm39) |
I288V |
probably benign |
Het |
| Ighv1-31 |
T |
C |
12: 114,793,036 (GRCm39) |
I67V |
probably benign |
Het |
| Krtap6-2 |
T |
C |
16: 89,216,703 (GRCm39) |
Y88C |
unknown |
Het |
| Ksr2 |
T |
C |
5: 117,823,560 (GRCm39) |
C446R |
possibly damaging |
Het |
| Lct |
A |
T |
1: 128,221,929 (GRCm39) |
W1537R |
probably damaging |
Het |
| Lrp1 |
T |
A |
10: 127,425,405 (GRCm39) |
|
probably benign |
Het |
| Mettl25 |
A |
G |
10: 105,668,714 (GRCm39) |
V136A |
probably benign |
Het |
| Muc16 |
A |
G |
9: 18,432,221 (GRCm39) |
|
probably null |
Het |
| Ndufv3 |
A |
G |
17: 31,746,742 (GRCm39) |
K211E |
possibly damaging |
Het |
| Nkiras2 |
A |
T |
11: 100,510,158 (GRCm39) |
|
probably benign |
Het |
| Nudcd1 |
T |
C |
15: 44,251,971 (GRCm39) |
E396G |
probably benign |
Het |
| Or4g16 |
T |
A |
2: 111,137,379 (GRCm39) |
F276L |
probably damaging |
Het |
| Or52a33 |
A |
T |
7: 103,288,702 (GRCm39) |
I215K |
probably damaging |
Het |
| Or5b104 |
A |
T |
19: 13,072,490 (GRCm39) |
M1K |
probably null |
Het |
| Phaf1 |
T |
A |
8: 105,976,075 (GRCm39) |
I344K |
probably benign |
Het |
| Sgk3 |
A |
G |
1: 9,938,699 (GRCm39) |
|
probably benign |
Het |
| Sgsm3 |
A |
G |
15: 80,894,612 (GRCm39) |
Y544C |
probably damaging |
Het |
| Sirt1 |
T |
C |
10: 63,161,964 (GRCm39) |
E307G |
probably damaging |
Het |
| Skint6 |
T |
A |
4: 112,931,296 (GRCm39) |
Q498H |
probably benign |
Het |
| Smpdl3b |
T |
C |
4: 132,473,814 (GRCm39) |
K84E |
probably benign |
Het |
| Spata31h1 |
A |
G |
10: 82,123,753 (GRCm39) |
F3086L |
probably benign |
Het |
| Spcs2 |
A |
G |
7: 99,493,923 (GRCm39) |
S186P |
probably benign |
Het |
| Speer4e2 |
C |
T |
5: 15,026,212 (GRCm39) |
|
probably null |
Het |
| Steap1 |
A |
T |
5: 5,789,940 (GRCm39) |
D24E |
probably damaging |
Het |
| Svep1 |
T |
C |
4: 58,054,604 (GRCm39) |
E3328G |
possibly damaging |
Het |
| Syt17 |
A |
G |
7: 118,033,054 (GRCm39) |
|
probably null |
Het |
| Tdpoz3 |
T |
C |
3: 93,734,399 (GRCm39) |
V358A |
probably benign |
Het |
| Tecrl |
C |
T |
5: 83,461,154 (GRCm39) |
R101Q |
probably benign |
Het |
| Tmem184a |
C |
A |
5: 139,791,311 (GRCm39) |
A426S |
probably benign |
Het |
| Tnc |
T |
C |
4: 63,927,087 (GRCm39) |
D813G |
probably damaging |
Het |
| Top1 |
A |
G |
2: 160,547,182 (GRCm39) |
T419A |
possibly damaging |
Het |
| Ttll4 |
T |
C |
1: 74,720,975 (GRCm39) |
I547T |
probably damaging |
Het |
| Vmn1r193 |
T |
C |
13: 22,403,920 (GRCm39) |
D24G |
possibly damaging |
Het |
| Wfs1 |
C |
T |
5: 37,124,287 (GRCm39) |
R792H |
probably damaging |
Het |
| Zfp607a |
A |
G |
7: 27,577,944 (GRCm39) |
D338G |
possibly damaging |
Het |
| Zfp949 |
C |
T |
9: 88,450,771 (GRCm39) |
R114C |
possibly damaging |
Het |
|
| Other mutations in Map3k13 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00977:Map3k13
|
APN |
16 |
21,740,514 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01092:Map3k13
|
APN |
16 |
21,746,766 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01958:Map3k13
|
APN |
16 |
21,710,873 (GRCm39) |
missense |
probably benign |
|
|
IGL02444:Map3k13
|
APN |
16 |
21,732,982 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL02503:Map3k13
|
APN |
16 |
21,727,454 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
IGL02712:Map3k13
|
APN |
16 |
21,724,005 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03342:Map3k13
|
APN |
16 |
21,710,981 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0086:Map3k13
|
UTSW |
16 |
21,732,975 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0124:Map3k13
|
UTSW |
16 |
21,722,506 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0281:Map3k13
|
UTSW |
16 |
21,732,907 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0308:Map3k13
|
UTSW |
16 |
21,710,738 (GRCm39) |
missense |
probably benign |
|
|
R0601:Map3k13
|
UTSW |
16 |
21,723,999 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0669:Map3k13
|
UTSW |
16 |
21,725,274 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0918:Map3k13
|
UTSW |
16 |
21,744,990 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1641:Map3k13
|
UTSW |
16 |
21,722,542 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1838:Map3k13
|
UTSW |
16 |
21,732,939 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1891:Map3k13
|
UTSW |
16 |
21,729,836 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2125:Map3k13
|
UTSW |
16 |
21,710,894 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2332:Map3k13
|
UTSW |
16 |
21,717,427 (GRCm39) |
splice site |
probably null |
|
|
R2361:Map3k13
|
UTSW |
16 |
21,725,286 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4395:Map3k13
|
UTSW |
16 |
21,717,321 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R4505:Map3k13
|
UTSW |
16 |
21,740,928 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4506:Map3k13
|
UTSW |
16 |
21,740,928 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4521:Map3k13
|
UTSW |
16 |
21,724,525 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4753:Map3k13
|
UTSW |
16 |
21,710,752 (GRCm39) |
missense |
probably benign |
|
|
R4952:Map3k13
|
UTSW |
16 |
21,729,769 (GRCm39) |
missense |
probably benign |
0.15 |
|
R5035:Map3k13
|
UTSW |
16 |
21,740,421 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5327:Map3k13
|
UTSW |
16 |
21,740,397 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5784:Map3k13
|
UTSW |
16 |
21,717,391 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R5831:Map3k13
|
UTSW |
16 |
21,746,798 (GRCm39) |
makesense |
probably null |
|
|
R5996:Map3k13
|
UTSW |
16 |
21,723,995 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6007:Map3k13
|
UTSW |
16 |
21,723,933 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6546:Map3k13
|
UTSW |
16 |
21,740,527 (GRCm39) |
missense |
probably benign |
0.15 |
|
R6620:Map3k13
|
UTSW |
16 |
21,711,061 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R6683:Map3k13
|
UTSW |
16 |
21,711,062 (GRCm39) |
missense |
probably benign |
0.32 |
|
R6692:Map3k13
|
UTSW |
16 |
21,723,987 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R6695:Map3k13
|
UTSW |
16 |
21,741,028 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6743:Map3k13
|
UTSW |
16 |
21,711,173 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6822:Map3k13
|
UTSW |
16 |
21,741,013 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6965:Map3k13
|
UTSW |
16 |
21,740,900 (GRCm39) |
missense |
probably benign |
|
|
R7149:Map3k13
|
UTSW |
16 |
21,744,187 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7174:Map3k13
|
UTSW |
16 |
21,745,006 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7256:Map3k13
|
UTSW |
16 |
21,710,988 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7400:Map3k13
|
UTSW |
16 |
21,741,072 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7733:Map3k13
|
UTSW |
16 |
21,740,436 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7848:Map3k13
|
UTSW |
16 |
21,724,621 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7871:Map3k13
|
UTSW |
16 |
21,740,346 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7876:Map3k13
|
UTSW |
16 |
21,741,069 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8002:Map3k13
|
UTSW |
16 |
21,723,878 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8089:Map3k13
|
UTSW |
16 |
21,722,567 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R8341:Map3k13
|
UTSW |
16 |
21,740,334 (GRCm39) |
nonsense |
probably null |
|
|
R8738:Map3k13
|
UTSW |
16 |
21,745,008 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8940:Map3k13
|
UTSW |
16 |
21,727,454 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R9391:Map3k13
|
UTSW |
16 |
21,740,665 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9749:Map3k13
|
UTSW |
16 |
21,740,581 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9802:Map3k13
|
UTSW |
16 |
21,740,518 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
Z1176:Map3k13
|
UTSW |
16 |
21,723,912 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCACAGGCTTCTATGTGGTG -3'
(R):5'- ACCAGAATCAACCGGAAGTG -3'
Sequencing Primer
(F):5'- CTTCTATGTGGTGCCCAAGAGC -3'
(R):5'- TCAACCGGAAGTGAGATGC -3'
|
| Posted On |
2021-08-31 |
Incidental Mutation