Incidental Mutation 'R5283:Mapkap1'
ID |
402852 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mapkap1
|
Ensembl Gene |
ENSMUSG00000038696 |
Gene Name |
mitogen-activated protein kinase associated protein 1 |
Synonyms |
Sin1, D230039K05Rik |
MMRRC Submission |
042868-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5283 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
34296783-34514962 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 34334360 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 147
(E147G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141407
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113123]
[ENSMUST00000113124]
[ENSMUST00000113126]
[ENSMUST00000124443]
[ENSMUST00000137021]
[ENSMUST00000147337]
[ENSMUST00000149383]
|
AlphaFold |
Q8BKH7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000113123
|
SMART Domains |
Protein: ENSMUSP00000108748 Gene: ENSMUSG00000038696
Domain | Start | End | E-Value | Type |
Pfam:SIN1
|
1 |
289 |
2e-125 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000113124
AA Change: E147G
PolyPhen 2
Score 0.580 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000108749 Gene: ENSMUSG00000038696 AA Change: E147G
Domain | Start | End | E-Value | Type |
Pfam:SIN1
|
18 |
324 |
4.7e-125 |
PFAM |
Pfam:SIN1
|
318 |
445 |
2.1e-48 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000113126
AA Change: E147G
PolyPhen 2
Score 0.580 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000108751 Gene: ENSMUSG00000038696 AA Change: E147G
Domain | Start | End | E-Value | Type |
Pfam:SIN1
|
18 |
481 |
1.1e-188 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000124443
|
SMART Domains |
Protein: ENSMUSP00000123301 Gene: ENSMUSG00000038696
Domain | Start | End | E-Value | Type |
Pfam:SIN1
|
1 |
289 |
1.6e-125 |
PFAM |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000137021
AA Change: E1G
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138933
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000147337
AA Change: E147G
PolyPhen 2
Score 0.580 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000116494 Gene: ENSMUSG00000038696 AA Change: E147G
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 |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000149383
AA Change: E147G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000141407 Gene: ENSMUSG00000038696 AA Change: E147G
Domain | Start | End | E-Value | Type |
Pfam:SIN1
|
18 |
171 |
2.7e-48 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156967
|
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.9%
- 20x: 96.7%
|
Validation Efficiency |
|
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aamp |
C |
T |
1: 74,323,165 (GRCm39) |
E53K |
possibly damaging |
Het |
Amotl1 |
T |
C |
9: 14,469,780 (GRCm39) |
E651G |
probably damaging |
Het |
Ankrd11 |
A |
C |
8: 123,610,921 (GRCm39) |
V2655G |
probably damaging |
Het |
Apbb1ip |
G |
A |
2: 22,757,683 (GRCm39) |
V434M |
probably benign |
Het |
Atp5pd |
T |
C |
11: 115,306,611 (GRCm39) |
Y150C |
probably damaging |
Het |
Ccdc13 |
T |
A |
9: 121,637,254 (GRCm39) |
D75V |
probably damaging |
Het |
Col4a4 |
C |
T |
1: 82,471,312 (GRCm39) |
G681E |
unknown |
Het |
Crh |
T |
C |
3: 19,748,171 (GRCm39) |
H157R |
probably damaging |
Het |
Cstdc6 |
T |
C |
16: 36,142,205 (GRCm39) |
D57G |
probably damaging |
Het |
Dpp4 |
G |
A |
2: 62,190,680 (GRCm39) |
T392I |
probably damaging |
Het |
Ehd3 |
G |
T |
17: 74,127,498 (GRCm39) |
A144S |
probably benign |
Het |
Fnip2 |
A |
T |
3: 79,373,015 (GRCm39) |
I1021N |
probably damaging |
Het |
Fus |
T |
A |
7: 127,584,719 (GRCm39) |
|
probably benign |
Het |
Glo1 |
T |
C |
17: 30,819,047 (GRCm39) |
T92A |
probably benign |
Het |
Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
Gm15130 |
A |
C |
2: 110,965,754 (GRCm39) |
M165R |
unknown |
Het |
Gon4l |
T |
C |
3: 88,794,897 (GRCm39) |
L700P |
probably damaging |
Het |
Grm1 |
C |
A |
10: 10,608,936 (GRCm39) |
D566Y |
possibly damaging |
Het |
Guca1b |
T |
C |
17: 47,702,195 (GRCm39) |
|
probably benign |
Het |
Has3 |
A |
G |
8: 107,600,747 (GRCm39) |
M70V |
probably damaging |
Het |
Hydin |
G |
T |
8: 111,178,612 (GRCm39) |
C1069F |
possibly damaging |
Het |
Ints1 |
A |
C |
5: 139,750,137 (GRCm39) |
L920R |
probably damaging |
Het |
Kdm2a |
T |
C |
19: 4,381,297 (GRCm39) |
I54V |
probably benign |
Het |
Kpna2 |
G |
A |
11: 106,881,658 (GRCm39) |
T324I |
probably damaging |
Het |
Lrr1 |
T |
C |
12: 69,221,428 (GRCm39) |
L190S |
probably damaging |
Het |
Lrrc49 |
A |
T |
9: 60,594,461 (GRCm39) |
H16Q |
probably benign |
Het |
Mab21l4 |
C |
T |
1: 93,087,575 (GRCm39) |
D93N |
probably benign |
Het |
Mrpl2 |
C |
T |
17: 46,959,992 (GRCm39) |
R219W |
possibly damaging |
Het |
Muc21 |
A |
G |
17: 35,932,224 (GRCm39) |
|
probably benign |
Het |
Ndc80 |
A |
G |
17: 71,828,130 (GRCm39) |
S66P |
probably benign |
Het |
Notch1 |
A |
G |
2: 26,358,638 (GRCm39) |
Y1398H |
probably damaging |
Het |
Olfml2b |
C |
T |
1: 170,508,758 (GRCm39) |
R539* |
probably null |
Het |
Or6b9 |
T |
A |
7: 106,555,955 (GRCm39) |
T63S |
probably benign |
Het |
Pde7a |
T |
C |
3: 19,314,420 (GRCm39) |
T59A |
probably damaging |
Het |
Plekhg1 |
G |
A |
10: 3,906,654 (GRCm39) |
V524I |
probably benign |
Het |
Plin4 |
T |
A |
17: 56,413,777 (GRCm39) |
M283L |
probably benign |
Het |
Prp2 |
C |
T |
6: 132,577,606 (GRCm39) |
P298S |
unknown |
Het |
Rap1gap2 |
G |
A |
11: 74,286,651 (GRCm39) |
R550C |
probably damaging |
Het |
Reln |
G |
A |
5: 22,216,161 (GRCm39) |
T1008I |
probably damaging |
Het |
Rffl |
T |
C |
11: 82,703,615 (GRCm39) |
K103E |
probably damaging |
Het |
Rmnd5b |
A |
T |
11: 51,517,887 (GRCm39) |
F156I |
probably damaging |
Het |
Rtn4ip1 |
T |
C |
10: 43,778,461 (GRCm39) |
I68T |
probably damaging |
Het |
Samhd1 |
T |
C |
2: 156,951,412 (GRCm39) |
I442V |
possibly damaging |
Het |
Slc12a4 |
A |
T |
8: 106,677,326 (GRCm39) |
|
probably null |
Het |
Slc35b1 |
G |
T |
11: 95,275,814 (GRCm39) |
|
probably benign |
Het |
Ssh1 |
A |
G |
5: 114,088,606 (GRCm39) |
V354A |
probably damaging |
Het |
Stk33 |
T |
C |
7: 108,935,334 (GRCm39) |
K153E |
possibly damaging |
Het |
Stk4 |
C |
T |
2: 163,952,199 (GRCm39) |
R19* |
probably null |
Het |
Tas2r136 |
A |
T |
6: 132,754,374 (GRCm39) |
I251N |
probably damaging |
Het |
Tbr1 |
A |
T |
2: 61,635,244 (GRCm39) |
T65S |
probably benign |
Het |
Tkt |
C |
T |
14: 30,282,575 (GRCm39) |
S124F |
probably damaging |
Het |
Tll1 |
T |
C |
8: 64,555,000 (GRCm39) |
I228V |
possibly damaging |
Het |
Tmem236 |
A |
G |
2: 14,179,644 (GRCm39) |
I82V |
probably benign |
Het |
Vmn2r110 |
T |
C |
17: 20,800,899 (GRCm39) |
Q511R |
probably benign |
Het |
Vmn2r98 |
T |
C |
17: 19,300,981 (GRCm39) |
M661T |
probably benign |
Het |
Vps13a |
T |
A |
19: 16,655,334 (GRCm39) |
K1898I |
probably damaging |
Het |
Zc3h12a |
T |
C |
4: 125,020,558 (GRCm39) |
E95G |
probably benign |
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 |
|
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 |
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'- TTTGAGGCTTTCTGCAGACCC -3'
(R):5'- ATAACACCGAGGCCGTCTTG -3'
Sequencing Primer
(F):5'- ATGTGCCCTCTGTAAGATCCAG -3'
(R):5'- ACCGAGGCCGTCTTGAAACC -3'
|
Posted On |
2016-07-22 |