Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02104:Mapkap1'

279907

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 #

IGL02104

Quality Score

Status

Chromosome

Chromosomal Location

34296783-34514962 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 34513482 bp (GRCm39)

Zygosity

Heterozygous

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]

AlphaFold

Q8BKH7

Predicted Effect

probably null
Transcript: ENSMUST00000113123
AA Change: Y305*

SMART Domains

Protein: ENSMUSP00000108748
Gene: ENSMUSG00000038696
AA Change: Y305*

Domain	Start	End	E-Value	Type
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*

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 null
Transcript: ENSMUST00000113126
AA Change: Y497*

SMART Domains

Protein: ENSMUSP00000108751
Gene: ENSMUSG00000038696
AA Change: Y497*

Domain	Start	End	E-Value	Type
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*

Domain	Start	End	E-Value	Type
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*

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

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933440M02Rik	T	C	7: 124,930,714 (GRCm39)		noncoding transcript	Het
Abcb5	T	A	12: 118,904,415 (GRCm39)	Q125L	probably damaging	Het
Acap3	G	A	4: 155,989,542 (GRCm39)	R662H	probably damaging	Het
Aox4	T	A	1: 58,275,816 (GRCm39)		probably benign	Het
Aqp6	T	C	15: 99,502,159 (GRCm39)	S285P	probably benign	Het
Arhgef5	A	T	6: 43,249,345 (GRCm39)	Q32L	probably damaging	Het
B3gnt6	G	T	7: 97,843,308 (GRCm39)	D217E	probably damaging	Het
Cfap251	T	A	5: 123,440,761 (GRCm39)	L1106*	probably null	Het
Chd6	T	C	2: 160,819,432 (GRCm39)	I1338V	probably benign	Het
Clic6	A	G	16: 92,295,367 (GRCm39)	E9G	possibly damaging	Het
Col11a1	T	A	3: 113,975,046 (GRCm39)		probably null	Het
Dcdc2b	T	A	4: 129,504,867 (GRCm39)	D88V	probably benign	Het
Dis3l	T	A	9: 64,217,611 (GRCm39)	K791N	possibly damaging	Het
Dmxl2	A	T	9: 54,311,299 (GRCm39)	Y1008*	probably null	Het
Dnah11	A	G	12: 118,156,125 (GRCm39)	V175A	probably benign	Het
Efl1	A	G	7: 82,307,263 (GRCm39)		probably null	Het
Fam117b	C	T	1: 59,988,278 (GRCm39)	T219I	probably benign	Het
Fgf21	T	A	7: 45,264,648 (GRCm39)	Q28L	probably benign	Het
Folh1	T	C	7: 86,393,638 (GRCm39)	Q391R	possibly damaging	Het
Gars1	A	G	6: 55,054,682 (GRCm39)	D663G	probably damaging	Het
Lats2	A	G	14: 57,971,469 (GRCm39)	F69L	probably damaging	Het
Lrp2	C	T	2: 69,340,762 (GRCm39)	V1038M	probably damaging	Het
Map3k1	A	T	13: 111,892,777 (GRCm39)	V826E	probably damaging	Het
Mast3	T	C	8: 71,240,550 (GRCm39)	I296V	possibly damaging	Het
Mon1a	T	G	9: 107,778,814 (GRCm39)	L346R	probably damaging	Het
Mphosph8	T	C	14: 56,912,036 (GRCm39)	L353S	probably benign	Het
Muc5ac	T	C	7: 141,364,815 (GRCm39)	Y2634H	probably damaging	Het
Mylk	A	G	16: 34,635,805 (GRCm39)	T9A	probably benign	Het
Or10j2	T	C	1: 173,098,603 (GRCm39)	V287A	probably damaging	Het
Or14j8	A	C	17: 38,263,182 (GRCm39)	H244Q	probably damaging	Het
Or55b3	C	A	7: 102,126,544 (GRCm39)	V178F	probably damaging	Het
Or5an6	T	A	19: 12,372,263 (GRCm39)	V212D	probably damaging	Het
Or5b122	T	A	19: 13,562,968 (GRCm39)	M57K	probably damaging	Het
Or5m8	G	T	2: 85,822,730 (GRCm39)	D190Y	probably damaging	Het
Or7g25	A	T	9: 19,160,166 (GRCm39)	H176Q	probably benign	Het
Pabpc2	A	C	18: 39,907,936 (GRCm39)	Q400H	possibly damaging	Het
Pigg	A	G	5: 108,489,963 (GRCm39)	Y856C	probably damaging	Het
Plekhn1	A	T	4: 156,306,865 (GRCm39)	V508E	probably benign	Het
Pom121l2	C	A	13: 22,166,445 (GRCm39)	H239N	possibly damaging	Het
Prdm2	A	G	4: 142,859,997 (GRCm39)	S1098P	probably benign	Het
Rnf212	A	G	5: 108,895,306 (GRCm39)	I41T	possibly damaging	Het
Rngtt	A	G	4: 33,320,517 (GRCm39)		probably null	Het
Rpn2	C	T	2: 157,163,747 (GRCm39)	T613M	probably damaging	Het
Scd4	G	T	19: 44,333,186 (GRCm39)	V304F	possibly damaging	Het
Sez6l	A	G	5: 112,574,630 (GRCm39)		probably benign	Het
Shroom3	A	G	5: 93,088,248 (GRCm39)	R158G	probably benign	Het
Stil	T	C	4: 114,898,679 (GRCm39)	L1103P	probably damaging	Het
Tanc2	T	C	11: 105,670,959 (GRCm39)		probably benign	Het
Tmc1	C	T	19: 20,809,818 (GRCm39)	D255N	probably benign	Het
Trank1	C	A	9: 111,219,780 (GRCm39)	D2172E	possibly damaging	Het
Tyro3	G	A	2: 119,643,681 (GRCm39)	R718H	probably damaging	Het
Vamp2	C	A	11: 68,981,483 (GRCm39)	F114L	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
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
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