Incidental Mutation 'R4432:Mapkap1'
| ID |
328640 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mapkap1
|
| Ensembl Gene |
ENSMUSG00000038696 |
| Gene Name |
mitogen-activated protein kinase associated protein 1 |
| Synonyms |
Sin1, D230039K05Rik |
| MMRRC Submission |
041701-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4432 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
34296783-34514962 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 34509875 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 263
(L263P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123301
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113123]
[ENSMUST00000113124]
[ENSMUST00000113126]
[ENSMUST00000124443]
[ENSMUST00000147337]
|
| AlphaFold |
Q8BKH7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113123
AA Change: L263P
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000108748
Gene: ENSMUSG00000038696
AA Change: L263P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SIN1
|
1 |
289 |
2e-125 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113124
AA Change: L419P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000108749
Gene: ENSMUSG00000038696
AA Change: L419P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SIN1
|
18 |
324 |
4.7e-125 |
PFAM |
|
Pfam:SIN1
|
318 |
445 |
2.1e-48 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113126
AA Change: L455P
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000108751
Gene: ENSMUSG00000038696
AA Change: L455P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SIN1
|
18 |
481 |
1.1e-188 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000124443
AA Change: L263P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000123301
Gene: ENSMUSG00000038696
AA Change: L263P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SIN1
|
1 |
289 |
1.6e-125 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129633
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000147337
AA Change: L455P
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000116494
Gene: ENSMUSG00000038696
AA Change: L455P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SIN1
|
18 |
129 |
1.2e-32 |
PFAM |
|
Pfam:CRIM
|
139 |
276 |
3.3e-38 |
PFAM |
|
Pfam:SIN1_PH
|
381 |
488 |
3.4e-34 |
PFAM |
|
| Meta Mutation Damage Score |
0.9249 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
100% (42/42) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is highly similar to the yeast SIN1 protein, a stress-activated protein kinase. Alternatively spliced transcript variants encoding distinct isoforms have been described. Alternate polyadenylation sites as well as alternate 3' UTRs have been identified for transcripts of this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice exhibit embryonic lethality due to early developmental abnormalities. Mutant mouse embryonic fibroblasts display increased susceptibility to stress-induced apoptosis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
T |
C |
11: 110,132,414 (GRCm39) |
M294V |
probably benign |
Het |
| Abcc5 |
A |
T |
16: 20,186,937 (GRCm39) |
|
probably null |
Het |
| Acsm4 |
A |
C |
7: 119,310,610 (GRCm39) |
E499A |
probably damaging |
Het |
| Adamtsl4 |
T |
C |
3: 95,589,069 (GRCm39) |
|
probably null |
Het |
| Ank2 |
A |
T |
3: 126,741,455 (GRCm39) |
|
probably benign |
Het |
| Anks6 |
G |
A |
4: 47,044,905 (GRCm39) |
Q334* |
probably null |
Het |
| Cadps2 |
T |
A |
6: 23,626,737 (GRCm39) |
I155L |
probably damaging |
Het |
| Casp4 |
G |
A |
9: 5,323,653 (GRCm39) |
R74H |
probably damaging |
Het |
| Cdk14 |
A |
G |
5: 5,086,427 (GRCm39) |
W298R |
probably damaging |
Het |
| Chia1 |
A |
G |
3: 106,022,641 (GRCm39) |
N12D |
probably benign |
Het |
| Cibar2 |
C |
A |
8: 120,901,594 (GRCm39) |
R37L |
probably damaging |
Het |
| Cyp3a59 |
A |
G |
5: 146,041,596 (GRCm39) |
D380G |
probably benign |
Het |
| Dnm2 |
T |
C |
9: 21,402,600 (GRCm39) |
|
probably benign |
Het |
| Dnm3 |
T |
C |
1: 161,819,566 (GRCm39) |
|
probably benign |
Het |
| Dpp4 |
A |
G |
2: 62,175,456 (GRCm39) |
Y660H |
probably damaging |
Het |
| H6pd |
T |
G |
4: 150,080,215 (GRCm39) |
Y202S |
probably damaging |
Het |
| Hnrnpa0 |
T |
C |
13: 58,275,751 (GRCm39) |
K126R |
probably benign |
Het |
| Insc |
C |
T |
7: 114,368,290 (GRCm39) |
|
probably benign |
Het |
| Lrrc45 |
G |
A |
11: 120,606,047 (GRCm39) |
|
probably null |
Het |
| Nmur1 |
A |
G |
1: 86,315,287 (GRCm39) |
S160P |
probably damaging |
Het |
| Or4a81 |
A |
T |
2: 89,619,078 (GRCm39) |
M206K |
possibly damaging |
Het |
| Or4g7 |
T |
A |
2: 111,309,757 (GRCm39) |
C209* |
probably null |
Het |
| Pcdhb15 |
A |
G |
18: 37,608,565 (GRCm39) |
N599S |
probably damaging |
Het |
| Pcid2 |
T |
C |
8: 13,135,421 (GRCm39) |
D196G |
probably damaging |
Het |
| Pcolce2 |
T |
C |
9: 95,563,610 (GRCm39) |
F199L |
probably damaging |
Het |
| Phf11c |
A |
T |
14: 59,628,384 (GRCm39) |
N88K |
possibly damaging |
Het |
| Prl8a8 |
T |
A |
13: 27,694,463 (GRCm39) |
Y109F |
probably benign |
Het |
| Rasa2 |
A |
G |
9: 96,424,460 (GRCm39) |
|
probably benign |
Het |
| Samhd1 |
T |
C |
2: 156,946,813 (GRCm39) |
D558G |
probably damaging |
Het |
| Slc1a1 |
T |
C |
19: 28,880,109 (GRCm39) |
F263S |
probably benign |
Het |
| Slc27a3 |
G |
A |
3: 90,294,647 (GRCm39) |
T408M |
probably damaging |
Het |
| Slc4a7 |
T |
A |
14: 14,757,323 (GRCm38) |
N520K |
probably damaging |
Het |
| Szt2 |
A |
G |
4: 118,241,428 (GRCm39) |
S1679P |
probably damaging |
Het |
| Trmt9b |
A |
T |
8: 36,965,632 (GRCm39) |
I51F |
probably damaging |
Het |
| Vmn1r218 |
T |
C |
13: 23,321,412 (GRCm39) |
F173S |
possibly damaging |
Het |
| Vmn2r32 |
T |
A |
7: 7,482,918 (GRCm39) |
N19Y |
probably damaging |
Het |
|
| Other mutations in Mapkap1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01714:Mapkap1
|
APN |
2 |
34,408,855 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02104:Mapkap1
|
APN |
2 |
34,513,482 (GRCm39) |
nonsense |
probably null |
|
|
IGL02390:Mapkap1
|
APN |
2 |
34,322,101 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02508:Mapkap1
|
APN |
2 |
34,408,681 (GRCm39) |
splice site |
probably benign |
|
|
IGL02817:Mapkap1
|
APN |
2 |
34,453,130 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4696001:Mapkap1
|
UTSW |
2 |
34,509,861 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0129:Mapkap1
|
UTSW |
2 |
34,513,494 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0480:Mapkap1
|
UTSW |
2 |
34,423,793 (GRCm39) |
splice site |
probably benign |
|
|
R1966:Mapkap1
|
UTSW |
2 |
34,408,691 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2167:Mapkap1
|
UTSW |
2 |
34,487,494 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4789:Mapkap1
|
UTSW |
2 |
34,423,859 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R4805:Mapkap1
|
UTSW |
2 |
34,487,434 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4806:Mapkap1
|
UTSW |
2 |
34,487,434 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4807:Mapkap1
|
UTSW |
2 |
34,487,434 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4808:Mapkap1
|
UTSW |
2 |
34,487,434 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4862:Mapkap1
|
UTSW |
2 |
34,513,442 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4989:Mapkap1
|
UTSW |
2 |
34,471,303 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5283:Mapkap1
|
UTSW |
2 |
34,334,360 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6186:Mapkap1
|
UTSW |
2 |
34,453,126 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R6248:Mapkap1
|
UTSW |
2 |
34,408,692 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6891:Mapkap1
|
UTSW |
2 |
34,453,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6985:Mapkap1
|
UTSW |
2 |
34,322,122 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7078:Mapkap1
|
UTSW |
2 |
34,453,151 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7179:Mapkap1
|
UTSW |
2 |
34,408,712 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7336:Mapkap1
|
UTSW |
2 |
34,423,829 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R7392:Mapkap1
|
UTSW |
2 |
34,325,166 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8479:Mapkap1
|
UTSW |
2 |
34,471,302 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9580:Mapkap1
|
UTSW |
2 |
34,509,878 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCTGCACTGTGAGTCTTC -3'
(R):5'- CAGAGAAGAGCTAGGCCTTTG -3'
Sequencing Primer
(F):5'- CACTGCCTGCCTTAGACCAG -3'
(R):5'- AAGCTGACAGTCCTGCTTTG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation