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) question?
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

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
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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