Incidental Mutation 'IGL02104:Mapkap1'
ID279907
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mapkap1
Ensembl Gene ENSMUSG00000038696
Gene Namemitogen-activated protein kinase associated protein 1
SynonymsSin1, D230039K05Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02104
Quality Score
Status
Chromosome2
Chromosomal Location34406771-34624950 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) T to A at 34623470 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Stop codon at position 497 (Y497*)
Ref Sequence ENSEMBL: ENSMUSP00000116494 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113123] [ENSMUST00000113124] [ENSMUST00000113126] [ENSMUST00000124443] [ENSMUST00000147337]
Predicted Effect probably null
Transcript: ENSMUST00000113123
AA Change: Y305*
SMART Domains Protein: ENSMUSP00000108748
Gene: ENSMUSG00000038696
AA Change: Y305*

DomainStartEndE-ValueType
Pfam:SIN1 1 289 2e-125 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000113124
AA Change: Y461*
SMART Domains Protein: ENSMUSP00000108749
Gene: ENSMUSG00000038696
AA Change: Y461*

DomainStartEndE-ValueType
Pfam:SIN1 18 324 4.7e-125 PFAM
Pfam:SIN1 318 445 2.1e-48 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000113126
AA Change: Y497*
SMART Domains Protein: ENSMUSP00000108751
Gene: ENSMUSG00000038696
AA Change: Y497*

DomainStartEndE-ValueType
Pfam:SIN1 18 481 1.1e-188 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000124443
AA Change: Y305*
SMART Domains Protein: ENSMUSP00000123301
Gene: ENSMUSG00000038696
AA Change: Y305*

DomainStartEndE-ValueType
Pfam:SIN1 1 289 1.6e-125 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129633
Predicted Effect probably null
Transcript: ENSMUST00000147337
AA Change: Y497*
SMART Domains Protein: ENSMUSP00000116494
Gene: ENSMUSG00000038696
AA Change: Y497*

DomainStartEndE-ValueType
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
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933440M02Rik T C 7: 125,331,542 noncoding transcript Het
Abcb5 T A 12: 118,940,680 Q125L probably damaging Het
Acap3 G A 4: 155,905,085 R662H probably damaging Het
Aox4 T A 1: 58,236,657 probably benign Het
Aqp6 T C 15: 99,604,278 S285P probably benign Het
Arhgef5 A T 6: 43,272,411 Q32L probably damaging Het
B3gnt6 G T 7: 98,194,101 D217E probably damaging Het
Chd6 T C 2: 160,977,512 I1338V probably benign Het
Clic6 A G 16: 92,498,479 E9G possibly damaging Het
Col11a1 T A 3: 114,181,397 probably null Het
Dcdc2b T A 4: 129,611,074 D88V probably benign Het
Dis3l T A 9: 64,310,329 K791N possibly damaging Het
Dmxl2 A T 9: 54,404,015 Y1008* probably null Het
Dnah11 A G 12: 118,192,390 V175A probably benign Het
Efl1 A G 7: 82,658,055 probably null Het
Fam117b C T 1: 59,949,119 T219I probably benign Het
Fgf21 T A 7: 45,615,224 Q28L probably benign Het
Folh1 T C 7: 86,744,430 Q391R possibly damaging Het
Gars A G 6: 55,077,697 D663G probably damaging Het
Lats2 A G 14: 57,734,012 F69L probably damaging Het
Lrp2 C T 2: 69,510,418 V1038M probably damaging Het
Map3k1 A T 13: 111,756,243 V826E probably damaging Het
Mast3 T C 8: 70,787,906 I296V possibly damaging Het
Mon1a T G 9: 107,901,615 L346R probably damaging Het
Mphosph8 T C 14: 56,674,579 L353S probably benign Het
Muc5ac T C 7: 141,811,078 Y2634H probably damaging Het
Mylk A G 16: 34,815,435 T9A probably benign Het
Olfr1031 G T 2: 85,992,386 D190Y probably damaging Het
Olfr1440 T A 19: 12,394,899 V212D probably damaging Het
Olfr1484 T A 19: 13,585,604 M57K probably damaging Het
Olfr418 T C 1: 173,271,036 V287A probably damaging Het
Olfr543 C A 7: 102,477,337 V178F probably damaging Het
Olfr761 A C 17: 37,952,291 H244Q probably damaging Het
Olfr843 A T 9: 19,248,870 H176Q probably benign Het
Pabpc2 A C 18: 39,774,883 Q400H possibly damaging Het
Pigg A G 5: 108,342,097 Y856C probably damaging Het
Plekhn1 A T 4: 156,222,408 V508E probably benign Het
Pom121l2 C A 13: 21,982,275 H239N possibly damaging Het
Prdm2 A G 4: 143,133,427 S1098P probably benign Het
Rnf212 A G 5: 108,747,440 I41T possibly damaging Het
Rngtt A G 4: 33,320,517 probably null Het
Rpn2 C T 2: 157,321,827 T613M probably damaging Het
Scd4 G T 19: 44,344,747 V304F possibly damaging Het
Sez6l A G 5: 112,426,764 probably benign Het
Shroom3 A G 5: 92,940,389 R158G probably benign Het
Stil T C 4: 115,041,482 L1103P probably damaging Het
Tanc2 T C 11: 105,780,133 probably benign Het
Tmc1 C T 19: 20,832,454 D255N probably benign Het
Trank1 C A 9: 111,390,712 D2172E possibly damaging Het
Tyro3 G A 2: 119,813,200 R718H probably damaging Het
Vamp2 C A 11: 69,090,657 F114L probably benign Het
Wdr66 T A 5: 123,302,698 L1106* probably null Het
Other mutations in Mapkap1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01714:Mapkap1 APN 2 34518843 missense probably damaging 1.00
IGL02390:Mapkap1 APN 2 34432089 missense probably damaging 0.99
IGL02508:Mapkap1 APN 2 34518669 splice site probably benign
IGL02817:Mapkap1 APN 2 34563118 missense probably damaging 1.00
PIT4696001:Mapkap1 UTSW 2 34619849 missense probably damaging 0.96
R0129:Mapkap1 UTSW 2 34623482 missense probably damaging 1.00
R0480:Mapkap1 UTSW 2 34533781 splice site probably benign
R1966:Mapkap1 UTSW 2 34518679 missense probably damaging 0.98
R2167:Mapkap1 UTSW 2 34597482 missense probably damaging 1.00
R4432:Mapkap1 UTSW 2 34619863 missense probably damaging 1.00
R4789:Mapkap1 UTSW 2 34533847 missense possibly damaging 0.64
R4805:Mapkap1 UTSW 2 34597422 critical splice acceptor site probably null
R4806:Mapkap1 UTSW 2 34597422 critical splice acceptor site probably null
R4807:Mapkap1 UTSW 2 34597422 critical splice acceptor site probably null
R4808:Mapkap1 UTSW 2 34597422 critical splice acceptor site probably null
R4862:Mapkap1 UTSW 2 34623430 missense probably damaging 1.00
R4989:Mapkap1 UTSW 2 34581291 missense probably damaging 1.00
R5283:Mapkap1 UTSW 2 34444348 missense probably damaging 1.00
R6186:Mapkap1 UTSW 2 34563114 missense possibly damaging 0.76
R6248:Mapkap1 UTSW 2 34518680 missense probably damaging 1.00
R6891:Mapkap1 UTSW 2 34563141 missense probably damaging 1.00
R6985:Mapkap1 UTSW 2 34432110 missense probably damaging 1.00
R7078:Mapkap1 UTSW 2 34563139 missense probably damaging 1.00
R7179:Mapkap1 UTSW 2 34518700 missense possibly damaging 0.88
R7336:Mapkap1 UTSW 2 34533817 missense possibly damaging 0.51
R7392:Mapkap1 UTSW 2 34435154 missense probably damaging 1.00
Posted On2015-04-16