Mutagenetix > Incidental Mutation

Incidental Mutation 'R6891:Mapkap1'

537184

Institutional Source

Beutler Lab

Gene Symbol

Mapkap1

Ensembl Gene

ENSMUSG00000038696

Gene Name

mitogen-activated protein kinase associated protein 1

Synonyms

Sin1, D230039K05Rik

MMRRC Submission

044985-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6891 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34296783-34514962 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 34453153 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 349 (F349L)

Ref Sequence

ENSEMBL: ENSMUSP00000116494 (fasta)

Gene Model

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

AlphaFold

Q8BKH7

Predicted Effect

probably damaging
Transcript: ENSMUST00000113123
AA Change: F157L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000108748
Gene: ENSMUSG00000038696
AA Change: F157L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000113124

SMART Domains

Protein: ENSMUSP00000108749
Gene: ENSMUSG00000038696

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: F349L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000108751
Gene: ENSMUSG00000038696
AA Change: F349L

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000124443
AA Change: F157L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000123301
Gene: ENSMUSG00000038696
AA Change: F157L

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000147337
AA Change: F349L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000116494
Gene: ENSMUSG00000038696
AA Change: F349L

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

Meta Mutation Damage Score

0.7057

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

97% (72/74)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl11	C	T	9: 107,806,346 (GRCm39)	A223V	probably benign	Het
Agbl5	G	T	5: 31,052,522 (GRCm39)	R61L	probably damaging	Het
Agmat	A	T	4: 141,483,192 (GRCm39)	T209S	probably benign	Het
Ankrd34a	G	A	3: 96,505,335 (GRCm39)	V180I	probably benign	Het
Anks1	C	T	17: 28,276,398 (GRCm39)	T1047M	probably damaging	Het
Arhgap21	T	A	2: 20,855,142 (GRCm39)	I1407F	probably damaging	Het
Armc1	C	A	3: 19,189,205 (GRCm39)	C183F	probably damaging	Het
Atg13	A	G	2: 91,516,136 (GRCm39)	M196T	probably benign	Het
AU040320	G	T	4: 126,740,231 (GRCm39)	S864I	possibly damaging	Het
Btn2a2	T	C	13: 23,667,014 (GRCm39)	D197G	probably benign	Het
Carmil1	A	G	13: 24,325,706 (GRCm39)	I208T	probably benign	Het
Cbs	T	A	17: 31,841,431 (GRCm39)	R263S	probably damaging	Het
Ccdc7a	C	A	8: 129,753,119 (GRCm39)	R204L	probably damaging	Het
Cdhr1	A	T	14: 36,819,334 (GRCm39)		probably null	Het
Cers4	G	A	8: 4,573,731 (GRCm39)	R378Q	probably damaging	Het
Chst1	T	G	2: 92,444,088 (GRCm39)	L187V	probably benign	Het
Clec4e	A	T	6: 123,260,565 (GRCm39)	N164K	probably damaging	Het
Cln3	T	A	7: 126,181,975 (GRCm39)	D29V	possibly damaging	Het
Crybg2	A	G	4: 133,809,148 (GRCm39)	S187G	probably benign	Het
Ddx1	A	T	12: 13,286,096 (GRCm39)	N285K	probably benign	Het
Dmxl2	A	G	9: 54,387,664 (GRCm39)	I58T	probably damaging	Het
Dock4	A	G	12: 40,829,135 (GRCm39)	Y1007C	probably damaging	Het
Eral1	C	T	11: 77,966,559 (GRCm39)	V234I	possibly damaging	Het
Fads2b	C	A	2: 85,319,149 (GRCm39)	M384I	possibly damaging	Het
Fads2b	T	G	2: 85,319,157 (GRCm39)	T382P	probably damaging	Het
Fam161b	A	G	12: 84,401,554 (GRCm39)	F400S	probably damaging	Het
Fmnl3	T	C	15: 99,223,754 (GRCm39)	D314G	probably damaging	Het
Foxred2	A	T	15: 77,839,909 (GRCm39)	L127Q	probably damaging	Het
Gjd2	G	A	2: 113,843,575 (GRCm39)	A14V	possibly damaging	Het
Gon4l	A	G	3: 88,766,173 (GRCm39)		probably null	Het
Gpr151	T	A	18: 42,711,985 (GRCm39)	D231V	probably benign	Het
Gzf1	A	T	2: 148,526,689 (GRCm39)	K387*	probably null	Het
Hfm1	T	A	5: 107,065,240 (GRCm39)	K146N	possibly damaging	Het
Hgf	G	A	5: 16,809,920 (GRCm39)		probably null	Het
Isoc2b	A	G	7: 4,854,487 (GRCm39)	S15P	probably damaging	Het
Itga5	A	G	15: 103,265,970 (GRCm39)	S126P	probably damaging	Het
Kat6b	A	G	14: 21,719,104 (GRCm39)	D1152G	probably benign	Het
Kcna4	C	T	2: 107,126,652 (GRCm39)	S462F	probably damaging	Het
Kif24	A	T	4: 41,394,168 (GRCm39)	C902S	probably benign	Het
Lama2	A	T	10: 27,204,068 (GRCm39)	C523*	probably null	Het
Lama2	G	C	10: 27,204,078 (GRCm39)	S520*	probably null	Het
Ltf	T	C	9: 110,854,181 (GRCm39)	V332A	probably benign	Het
Mdm1	A	G	10: 117,983,937 (GRCm39)	N188D	probably benign	Het
Mfn1	T	C	3: 32,631,252 (GRCm39)	S730P	possibly damaging	Het
Mrgprd	T	A	7: 144,876,087 (GRCm39)	D319E	probably benign	Het
Mrps9	C	A	1: 42,944,573 (GRCm39)	L364I	probably damaging	Het
Myo1h	C	T	5: 114,487,673 (GRCm39)	R626C	probably damaging	Het
Nme3	T	C	17: 25,115,829 (GRCm39)	S61P	probably benign	Het
Or2g1	A	G	17: 38,106,395 (GRCm39)	Q20R	probably benign	Het
Or52e18	A	G	7: 104,609,192 (GRCm39)	I249T	probably damaging	Het
Pald1	A	G	10: 61,184,311 (GRCm39)		probably null	Het
Papola	A	T	12: 105,775,950 (GRCm39)		probably benign	Het
Peg10	GAT	GATCAT	6: 4,756,449 (GRCm39)		probably benign	Het
Plch1	T	C	3: 63,605,504 (GRCm39)	T1458A	probably benign	Het
Polr3e	A	G	7: 120,543,873 (GRCm39)	Q659R	probably damaging	Het
Pramel38	C	A	5: 94,365,978 (GRCm39)	P32Q	probably damaging	Het
Shoc2	T	C	19: 53,976,548 (GRCm39)	V146A	probably benign	Het
Slc15a1	T	C	14: 121,713,442 (GRCm39)	T362A	probably benign	Het
Smpd3	A	G	8: 106,991,300 (GRCm39)	Y418H	probably damaging	Het
Sorcs1	A	T	19: 50,213,557 (GRCm39)	C723*	probably null	Het
Supt7l	T	A	5: 31,680,365 (GRCm39)	N16Y	probably damaging	Het
Syngr2	T	C	11: 117,703,499 (GRCm39)	V105A	probably damaging	Het
Thrb	T	A	14: 17,981,899 (GRCm38)	V8E	probably benign	Het
Tlx1	A	T	19: 45,139,757 (GRCm39)	I135F	probably damaging	Het
Tnfaip3	A	G	10: 18,887,417 (GRCm39)	I36T	probably damaging	Het
Troap	A	G	15: 98,980,569 (GRCm39)	Y583C	possibly damaging	Het
Usp17lb	T	C	7: 104,490,307 (GRCm39)	K207E	probably benign	Het
Vmn2r10	C	T	5: 109,149,845 (GRCm39)	V400M	probably damaging	Het
Wdr49	A	T	3: 75,240,590 (GRCm39)		probably null	Het
Wdr64	G	T	1: 175,533,634 (GRCm39)	W90L	probably damaging	Het
Yme1l1	A	G	2: 23,085,401 (GRCm39)	E662G	probably damaging	Het
Zfp334	C	T	2: 165,224,644 (GRCm39)	V68I	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
IGL02104:Mapkap1	APN	2	34,513,482 (GRCm39)	nonsense	probably null
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
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

Predicted Primers

PCR Primer
(F):5'- AGAGCCAGTTTCTGCCATCTTG -3'
(R):5'- ACACTTCTAGCACAAAGGCTG -3'

Sequencing Primer
(F):5'- GGATAGTTACACCCTTGGGAC -3'
(R):5'- ACAAAGGCTGTGGTCTGC -3'

Posted On

2018-10-18