Mutagenetix > Incidental Mutation

Incidental Mutation 'R7336:Mapkap1'

569471

Institutional Source

Beutler Lab

Gene Symbol

Mapkap1

Ensembl Gene

ENSMUSG00000038696

Gene Name

mitogen-activated protein kinase associated protein 1

Synonyms

Sin1, D230039K05Rik

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7336 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34406771-34624950 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 34533817 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 293 (Q293L)

Ref Sequence

ENSEMBL: ENSMUSP00000108751 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000113123] [ENSMUST00000113124] [ENSMUST00000113126] [ENSMUST00000124443] [ENSMUST00000147337]

AlphaFold

Q8BKH7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000113123
AA Change: Q101L

PolyPhen 2 Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000108748
Gene: ENSMUSG00000038696
AA Change: Q101L

Domain	Start	End	E-Value	Type
Pfam:SIN1	1	289	2e-125	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000113124
AA Change: Q293L

PolyPhen 2 Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000108749
Gene: ENSMUSG00000038696
AA Change: Q293L

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: Q293L

PolyPhen 2 Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000108751
Gene: ENSMUSG00000038696
AA Change: Q293L

Domain	Start	End	E-Value	Type
Pfam:SIN1	18	481	1.1e-188	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000124443
AA Change: Q101L

PolyPhen 2 Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000123301
Gene: ENSMUSG00000038696
AA Change: Q101L

Domain	Start	End	E-Value	Type
Pfam:SIN1	1	289	1.6e-125	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000147337
AA Change: Q293L

PolyPhen 2 Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000116494
Gene: ENSMUSG00000038696
AA Change: Q293L

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

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

99% (80/81)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	A	T	7: 120,388,233	Q1247H	possibly damaging	Het
Acsf2	G	C	11: 94,571,650	Q180E	probably benign	Het
Adamts8	A	G	9: 30,962,067	D856G	probably benign	Het
Agrn	A	T	4: 156,174,914	C828*	probably null	Het
Ankub1	T	C	3: 57,665,687	T205A	probably benign	Het
Atm	A	T	9: 53,462,503	Y2150N	possibly damaging	Het
Barhl1	A	G	2: 28,909,843	F257L	probably benign	Het
Bcat2	T	A	7: 45,575,485	C27S	probably benign	Het
Bod1l	G	A	5: 41,821,524	R816C	probably damaging	Het
Btg3	A	G	16: 78,364,807	Y172H	probably benign	Het
C130079G13Rik	G	A	3: 59,932,753		probably null	Het
Cacna1d	T	C	14: 30,045,282	D1940G	probably benign	Het
Catsperg2	T	A	7: 29,706,601	N624I	possibly damaging	Het
Ccdc146	A	G	5: 21,303,112	V646A	probably benign	Het
Ccp110	C	T	7: 118,722,210	P363S	probably damaging	Het
Cct4	C	A	11: 23,001,564	T377K	possibly damaging	Het
Cep350	T	A	1: 155,862,276	H2607L	probably benign	Het
Cfap46	A	G	7: 139,620,104	F1954L	unknown	Het
Chat	C	T	14: 32,423,256		probably null	Het
Clasp2	A	G	9: 113,876,353		probably null	Het
Cldn9	T	C	17: 23,683,015	D212G	probably benign	Het
Cp	G	A	3: 19,964,532		probably null	Het
Cyfip1	T	A	7: 55,926,400	I1108N	possibly damaging	Het
Dnah14	A	G	1: 181,797,734	D4060G	probably damaging	Het
Dpyd	A	G	3: 119,064,921	T595A	probably damaging	Het
Eps8	G	A	6: 137,509,213	R434C	possibly damaging	Het
Fasl	A	G	1: 161,787,988	Y100H	probably damaging	Het
Fkbp9	A	T	6: 56,849,727	N104I	probably damaging	Het
Frmd4a	A	G	2: 4,473,214	T65A	possibly damaging	Het
Gm1110	T	C	9: 26,914,357	N102S	probably damaging	Het
Gm2381	T	C	7: 42,822,380	Q25R	possibly damaging	Het
Gtpbp2	A	G	17: 46,161,313	Y58C	probably damaging	Het
H2-T3	C	A	17: 36,187,345	K269N	probably damaging	Het
Icosl	C	A	10: 78,073,873	Y217*	probably null	Het
Il17rd	G	T	14: 27,087,546	R153L	probably benign	Het
Kif17	C	A	4: 138,298,306	T973K	possibly damaging	Het
Klk1b16	A	G	7: 44,141,483	I236M	probably benign	Het
Lgmn	G	A	12: 102,423,739		probably benign	Het
Lmbr1l	T	C	15: 98,913,587	D54G	possibly damaging	Het
Lrrc49	A	T	9: 60,677,191	I196N	possibly damaging	Het
Maml1	C	T	11: 50,266,449	A300T	possibly damaging	Het
Mki67	T	C	7: 135,713,839	T69A	probably benign	Het
Mlph	G	A	1: 90,921,983		probably null	Het
Myh1	A	T	11: 67,220,609	M1625L	probably benign	Het
Myh3	G	T	11: 67,091,021	R781L	probably benign	Het
Nckap5	A	T	1: 126,026,049	I922K	probably benign	Het
Nlrp5	T	A	7: 23,417,634	M261K	probably damaging	Het
Olfr1317	A	T	2: 112,142,169	S75C	possibly damaging	Het
Olfr312	T	A	11: 58,831,924	Y257N	probably damaging	Het
Olfr396-ps1	G	A	11: 73,928,837	M204I	probably benign	Het
Olfr965	A	G	9: 39,719,610	N128D	probably benign	Het
Pak1	T	A	7: 97,888,972	V262E	probably benign	Het
Pigw	A	T	11: 84,877,104	D466E	probably damaging	Het
Pira2	A	T	7: 3,844,345	L115Q	probably damaging	Het
Rbm15	A	C	3: 107,333,116		probably benign	Het
Rfx1	A	G	8: 84,073,756		probably benign	Het
Rfx7	A	G	9: 72,593,357	Y133C	probably damaging	Het
Serpinb9d	T	A	13: 33,200,719	D226E	probably benign	Het
Sgk3	G	A	1: 9,884,476	A271T	possibly damaging	Het
Sh2d5	T	A	4: 138,256,839	C173S	probably benign	Het
Skint8	T	C	4: 111,939,572	V291A	probably benign	Het
Slc22a27	T	A	19: 7,926,689	N28Y	probably benign	Het
Slc25a54	G	A	3: 109,116,435	V449I	probably benign	Het
Slc39a9	T	C	12: 80,679,542	F255S	probably damaging	Het
Spata31d1c	C	T	13: 65,036,128	H495Y	probably damaging	Het
Stab2	G	A	10: 86,969,185	Q310*	probably null	Het
Supt16	C	A	14: 52,171,491	A809S	possibly damaging	Het
Tenm3	A	T	8: 48,236,177	M2125K	possibly damaging	Het
Tex2	G	A	11: 106,548,859	T565M	unknown	Het
Tll1	G	A	8: 64,025,142	A859V	probably damaging	Het
Tmem106c	C	T	15: 97,969,631	T232I	possibly damaging	Het
Tmem2	C	A	19: 21,826,145	Y847*	probably null	Het
Trim65	T	G	11: 116,128,290	D141A	probably benign	Het
Trim80	T	C	11: 115,441,216	F78S	probably damaging	Het
Txnrd1	T	A	10: 82,873,217	I83N	probably benign	Het
Vnn3	G	A	10: 23,851,908	G72D	probably benign	Het
Wasl	G	T	6: 24,619,687	P278Q	unknown	Het
Wdr62	A	T	7: 30,243,917	L951Q	probably damaging	Het
Zfp760	C	T	17: 21,723,833	T663I	unknown	Het

Other mutations in Mapkap1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01714:Mapkap1	APN	2	34518843	missense	probably damaging	1.00
IGL02104:Mapkap1	APN	2	34623470	nonsense	probably null
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
R7392:Mapkap1	UTSW	2	34435154	missense	probably damaging	1.00
R8479:Mapkap1	UTSW	2	34581290	missense	probably damaging	1.00
R9580:Mapkap1	UTSW	2	34619866	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTCACAAATGCCTGGGAATATG -3'
(R):5'- GCCAGACATCTCACTCTCTG -3'

Sequencing Primer
(F):5'- CTGGGATTCACTCTGTAGACCAG -3'
(R):5'- AGACATCTCACTCTCTGTCATACAC -3'

Posted On

2019-09-13