Incidental Mutation 'R4862:Mapkap1'
| ID |
374581 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mapkap1
|
| Ensembl Gene |
ENSMUSG00000038696 |
| Gene Name |
mitogen-activated protein kinase associated protein 1 |
| Synonyms |
Sin1, D230039K05Rik |
| MMRRC Submission |
043260-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4862 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
34296783-34514962 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 34513442 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 448
(Y448C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108749
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113123]
[ENSMUST00000113124]
[ENSMUST00000113126]
[ENSMUST00000124443]
[ENSMUST00000147337]
|
| AlphaFold |
Q8BKH7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113123
AA Change: Y292C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000108748
Gene: ENSMUSG00000038696
AA Change: Y292C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SIN1
|
1 |
289 |
2e-125 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113124
AA Change: Y448C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000108749
Gene: ENSMUSG00000038696
AA Change: Y448C
| 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: Y484C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000108751
Gene: ENSMUSG00000038696
AA Change: Y484C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SIN1
|
18 |
481 |
1.1e-188 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000124443
AA Change: Y292C
PolyPhen 2
Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000123301
Gene: ENSMUSG00000038696
AA Change: Y292C
| 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: Y484C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000116494
Gene: ENSMUSG00000038696
AA Change: Y484C
| 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 |
0.4306 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
95% (40/42) |
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acox3 |
A |
G |
5: 35,747,083 (GRCm39) |
T167A |
probably benign |
Het |
| Aox1 |
T |
G |
1: 58,134,316 (GRCm39) |
D1096E |
probably damaging |
Het |
| Arid4a |
A |
T |
12: 71,122,721 (GRCm39) |
D1034V |
probably damaging |
Het |
| Ccdc168 |
G |
A |
1: 44,097,178 (GRCm39) |
P1307S |
possibly damaging |
Het |
| Chaf1b |
T |
A |
16: 93,684,022 (GRCm39) |
L91Q |
probably damaging |
Het |
| Copb2 |
G |
T |
9: 98,463,320 (GRCm39) |
D512Y |
probably damaging |
Het |
| Daam1 |
A |
G |
12: 71,988,981 (GRCm39) |
E127G |
unknown |
Het |
| Dhx16 |
A |
G |
17: 36,194,154 (GRCm39) |
I422V |
probably benign |
Het |
| Dnah6 |
C |
T |
6: 73,098,771 (GRCm39) |
V2043I |
probably damaging |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
| Dync2h1 |
A |
G |
9: 7,147,717 (GRCm39) |
V971A |
probably benign |
Het |
| Elapor1 |
A |
G |
3: 108,375,149 (GRCm39) |
S573P |
probably benign |
Het |
| Elmo1 |
A |
G |
13: 20,633,682 (GRCm39) |
H448R |
probably benign |
Het |
| Fndc1 |
A |
T |
17: 7,988,567 (GRCm39) |
V1165D |
unknown |
Het |
| Hapln1 |
G |
A |
13: 89,749,571 (GRCm39) |
G39S |
possibly damaging |
Het |
| Igkv6-13 |
C |
A |
6: 70,434,765 (GRCm39) |
V27L |
probably benign |
Het |
| Krt28 |
A |
T |
11: 99,255,936 (GRCm39) |
I441N |
possibly damaging |
Het |
| Lgr5 |
A |
T |
10: 115,298,669 (GRCm39) |
D286E |
probably damaging |
Het |
| Or2f1 |
T |
C |
6: 42,721,489 (GRCm39) |
Y173H |
possibly damaging |
Het |
| Or5t9 |
T |
A |
2: 86,659,876 (GRCm39) |
V260E |
probably damaging |
Het |
| Ppt1 |
A |
C |
4: 122,738,242 (GRCm39) |
N89T |
probably damaging |
Het |
| Prss3b |
T |
G |
6: 41,009,345 (GRCm39) |
D163A |
possibly damaging |
Het |
| Ptgs1 |
G |
T |
2: 36,127,267 (GRCm39) |
R51L |
probably damaging |
Het |
| Slc47a2 |
A |
G |
11: 61,204,520 (GRCm39) |
F277S |
possibly damaging |
Het |
| Smcr8 |
A |
G |
11: 60,668,897 (GRCm39) |
E15G |
probably benign |
Het |
| Tbce |
A |
G |
13: 14,173,004 (GRCm39) |
S476P |
possibly damaging |
Het |
| Tmem131l |
A |
T |
3: 83,805,517 (GRCm39) |
|
probably benign |
Het |
| Unc5c |
T |
C |
3: 141,495,534 (GRCm39) |
Y468H |
probably damaging |
Het |
| Ush1c |
A |
T |
7: 45,878,664 (GRCm39) |
L117H |
probably damaging |
Het |
| Wdfy4 |
A |
G |
14: 32,822,860 (GRCm39) |
|
probably null |
Het |
| Zfa-ps |
G |
T |
10: 52,419,192 (GRCm39) |
|
noncoding transcript |
Het |
| Zfat |
C |
A |
15: 68,051,959 (GRCm39) |
A605S |
probably benign |
Het |
| Zfp853 |
T |
A |
5: 143,275,416 (GRCm39) |
Q68L |
unknown |
Het |
| Zfyve16 |
G |
A |
13: 92,644,764 (GRCm39) |
T1146I |
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 |
|
R4432:Mapkap1
|
UTSW |
2 |
34,509,875 (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 |
|
|
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'- CATCTATATGAACCGAGGGCTTC -3'
(R):5'- GTTTCAGTCCAATCGCACCC -3'
Sequencing Primer
(F):5'- GGCTTCCTCCTGGCCTG -3'
(R):5'- ACTACAGGATGCTGGTGGACTC -3'
|
| Posted On |
2016-03-17 |
Incidental Mutation