Incidental Mutation 'IGL02390:Mapkap1'
ID |
294242 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Mapkap1
|
Ensembl Gene |
ENSMUSG00000038696 |
Gene Name |
mitogen-activated protein kinase associated protein 1 |
Synonyms |
Sin1, D230039K05Rik |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL02390
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
34296783-34514962 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 34322101 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 6
(N6K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000116494
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113123]
[ENSMUST00000113124]
[ENSMUST00000113126]
[ENSMUST00000124443]
[ENSMUST00000141253]
[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 |
probably damaging
Transcript: ENSMUST00000113124
AA Change: N6K
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000108749 Gene: ENSMUSG00000038696 AA Change: N6K
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: N6K
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000108751 Gene: ENSMUSG00000038696 AA Change: N6K
Domain | Start | End | E-Value | Type |
Pfam:SIN1
|
18 |
481 |
1.1e-188 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000121991
|
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: ENSMUST00000141253
AA Change: N6K
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000147337
AA Change: N6K
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000116494 Gene: ENSMUSG00000038696 AA Change: N6K
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: N6K
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000141407 Gene: ENSMUSG00000038696 AA Change: N6K
Domain | Start | End | E-Value | Type |
Pfam:SIN1
|
18 |
171 |
2.7e-48 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156967
|
Coding Region Coverage |
|
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca5 |
T |
C |
11: 110,187,377 (GRCm39) |
K894R |
probably benign |
Het |
Ampd1 |
C |
T |
3: 102,986,357 (GRCm39) |
A12V |
probably benign |
Het |
Ano4 |
T |
A |
10: 88,860,843 (GRCm39) |
D345V |
possibly damaging |
Het |
Arl6 |
A |
G |
16: 59,441,580 (GRCm39) |
|
probably null |
Het |
Atp2a3 |
C |
A |
11: 72,866,165 (GRCm39) |
H262N |
probably benign |
Het |
Atrn |
C |
T |
2: 130,862,897 (GRCm39) |
P1326S |
possibly damaging |
Het |
Btbd9 |
A |
G |
17: 30,743,788 (GRCm39) |
V238A |
probably benign |
Het |
Cdh16 |
T |
C |
8: 105,348,606 (GRCm39) |
T141A |
probably damaging |
Het |
Cetn4 |
T |
C |
3: 37,363,305 (GRCm39) |
D102G |
probably damaging |
Het |
Col5a3 |
T |
A |
9: 20,688,292 (GRCm39) |
N1256I |
unknown |
Het |
Cyfip2 |
A |
G |
11: 46,112,225 (GRCm39) |
F993L |
possibly damaging |
Het |
Dcaf6 |
T |
A |
1: 165,250,490 (GRCm39) |
I125F |
possibly damaging |
Het |
Dclk2 |
A |
C |
3: 86,731,990 (GRCm39) |
S336A |
probably damaging |
Het |
Dnah8 |
G |
A |
17: 31,049,819 (GRCm39) |
V4327I |
probably benign |
Het |
Ebna1bp2 |
T |
C |
4: 118,478,694 (GRCm39) |
V59A |
possibly damaging |
Het |
Efr3b |
C |
T |
12: 4,033,391 (GRCm39) |
V139I |
probably benign |
Het |
F2 |
A |
T |
2: 91,463,332 (GRCm39) |
V184D |
possibly damaging |
Het |
Fbxo38 |
C |
T |
18: 62,666,660 (GRCm39) |
R171H |
probably damaging |
Het |
Fhod3 |
A |
C |
18: 25,199,332 (GRCm39) |
S668R |
probably benign |
Het |
Fkbp10 |
T |
A |
11: 100,306,843 (GRCm39) |
F78L |
probably damaging |
Het |
Garre1 |
T |
C |
7: 33,947,643 (GRCm39) |
D455G |
probably damaging |
Het |
Hyi |
C |
T |
4: 118,219,810 (GRCm39) |
R254C |
probably benign |
Het |
Igfl3 |
A |
T |
7: 17,915,659 (GRCm39) |
|
probably benign |
Het |
Lgals9 |
T |
A |
11: 78,854,361 (GRCm39) |
I308F |
probably damaging |
Het |
Lrrc8a |
C |
A |
2: 30,146,713 (GRCm39) |
P509Q |
probably damaging |
Het |
Mdh1b |
T |
A |
1: 63,760,716 (GRCm39) |
H115L |
probably benign |
Het |
Med17 |
G |
A |
9: 15,188,963 (GRCm39) |
R101* |
probably null |
Het |
Mrpl15 |
T |
C |
1: 4,855,837 (GRCm39) |
S22G |
probably benign |
Het |
Nf1 |
T |
C |
11: 79,456,761 (GRCm39) |
Y616H |
possibly damaging |
Het |
Nf1 |
T |
A |
11: 79,302,502 (GRCm39) |
|
probably benign |
Het |
Olig1 |
C |
A |
16: 91,067,041 (GRCm39) |
Q93K |
probably damaging |
Het |
Or13d1 |
T |
A |
4: 52,971,263 (GRCm39) |
I214N |
probably damaging |
Het |
Or1o1 |
A |
T |
17: 37,716,986 (GRCm39) |
L182F |
probably benign |
Het |
Or4f59 |
A |
T |
2: 111,873,056 (GRCm39) |
V107E |
possibly damaging |
Het |
Otoa |
C |
A |
7: 120,730,590 (GRCm39) |
L597M |
possibly damaging |
Het |
Parp16 |
C |
T |
9: 65,141,051 (GRCm39) |
P207L |
possibly damaging |
Het |
Pbrm1 |
T |
A |
14: 30,754,467 (GRCm39) |
D162E |
probably benign |
Het |
Pramel21 |
T |
A |
4: 143,341,895 (GRCm39) |
M108K |
probably benign |
Het |
Prdm10 |
A |
G |
9: 31,264,685 (GRCm39) |
I658V |
possibly damaging |
Het |
Psg21 |
A |
T |
7: 18,386,556 (GRCm39) |
H143Q |
probably benign |
Het |
Rfx4 |
C |
T |
10: 84,676,014 (GRCm39) |
R28W |
probably damaging |
Het |
Sart1 |
T |
G |
19: 5,430,489 (GRCm39) |
M753L |
possibly damaging |
Het |
Smcr8 |
T |
A |
11: 60,670,548 (GRCm39) |
D565E |
probably benign |
Het |
Smyd4 |
T |
A |
11: 75,278,332 (GRCm39) |
|
probably null |
Het |
Sned1 |
T |
C |
1: 93,189,386 (GRCm39) |
V274A |
probably benign |
Het |
Tbc1d13 |
T |
C |
2: 30,027,399 (GRCm39) |
|
probably benign |
Het |
Tox |
A |
T |
4: 6,697,534 (GRCm39) |
I423N |
possibly damaging |
Het |
Tsc2 |
A |
T |
17: 24,819,427 (GRCm39) |
V1232D |
probably damaging |
Het |
Uckl1 |
C |
T |
2: 181,216,212 (GRCm39) |
V178I |
possibly damaging |
Het |
Usp13 |
T |
A |
3: 32,985,865 (GRCm39) |
Y175* |
probably null |
Het |
Vwde |
A |
G |
6: 13,190,684 (GRCm39) |
V469A |
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 |
|
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 |
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 |
|
Posted On |
2015-04-16 |