Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01794:Mapk1ip1'

155302

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mapk1ip1

Ensembl Gene

ENSMUSG00000041775

Gene Name

mitogen-activated protein kinase 1 interacting protein 1

Synonyms

Miss, 2310009E07Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.171) question?

Stock #

IGL01794

Quality Score

Status

Chromosome

Chromosomal Location

138437547-138447996 bp(-) (GRCm39)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

C to T at 138438426 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 1 (M1I)

Ref Sequence

ENSEMBL: ENSMUSP00000112631 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075667] [ENSMUST00000118810] [ENSMUST00000119664]

AlphaFold

Q9D7G9

Predicted Effect

probably null
Transcript: ENSMUST00000075667
AA Change: M1I

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000075090
Gene: ENSMUSG00000041775
AA Change: M1I

Domain	Start	End	E-Value	Type
low complexity region	20	35	N/A	INTRINSIC
low complexity region	143	165	N/A	INTRINSIC
low complexity region	200	213	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000118810
AA Change: M1I

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000113813
Gene: ENSMUSG00000041775
AA Change: M1I

Domain	Start	End	E-Value	Type
low complexity region	20	35	N/A	INTRINSIC
low complexity region	143	165	N/A	INTRINSIC
low complexity region	200	213	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000119664
AA Change: M1I

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000112631
Gene: ENSMUSG00000041775
AA Change: M1I

Domain	Start	End	E-Value	Type
Pfam:MISS	1	166	5.5e-52	PFAM
low complexity region	200	213	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930590J08Rik	C	T	6: 91,895,093 (GRCm39)	R263*	probably null	Het
Appl2	A	G	10: 83,450,158 (GRCm39)	V238A	probably benign	Het
Bcl2l11	T	A	2: 127,970,568 (GRCm39)	S6T	probably damaging	Het
Bptf	A	G	11: 106,944,047 (GRCm39)		probably null	Het
Catsper3	T	C	13: 55,946,719 (GRCm39)	S139P	possibly damaging	Het
Cdh3	A	G	8: 107,263,758 (GRCm39)	N192S	possibly damaging	Het
Dsc1	A	T	18: 20,243,240 (GRCm39)	I71N	probably damaging	Het
Fbxw2	A	G	2: 34,701,131 (GRCm39)		probably benign	Het
Gad1	G	T	2: 70,427,512 (GRCm39)	V473L	probably benign	Het
Golm2	T	A	2: 121,742,407 (GRCm39)	N206K	probably benign	Het
Gtpbp1	C	T	15: 79,600,447 (GRCm39)	T460I	probably damaging	Het
Krt16	G	A	11: 100,138,731 (GRCm39)	T185I	probably benign	Het
Nt5e	A	T	9: 88,249,351 (GRCm39)	L428F	probably damaging	Het
Or5p54	A	G	7: 107,554,502 (GRCm39)	Y218C	probably damaging	Het
Pah	G	T	10: 87,414,784 (GRCm39)	V379F	possibly damaging	Het
Scn7a	T	C	2: 66,505,853 (GRCm39)	T1679A	probably benign	Het
Sdccag8	T	A	1: 176,672,873 (GRCm39)	H293Q	possibly damaging	Het
Spmip4	T	C	6: 50,554,826 (GRCm39)	I268M	probably damaging	Het
Suco	A	G	1: 161,655,294 (GRCm39)	M1066T	probably benign	Het
Trim9	A	G	12: 70,328,654 (GRCm39)	Y369H	probably damaging	Het
Usp34	G	A	11: 23,386,020 (GRCm39)	R2149H	probably damaging	Het

Other mutations in Mapk1ip1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01098:Mapk1ip1	APN	7	138,438,191 (GRCm39)	missense	probably damaging	0.97
R0631:Mapk1ip1	UTSW	7	138,437,684 (GRCm39)	missense	possibly damaging	0.53
R1389:Mapk1ip1	UTSW	7	138,438,456 (GRCm39)	start gained	probably benign
R5801:Mapk1ip1	UTSW	7	138,438,239 (GRCm39)	missense	possibly damaging	0.71
R6083:Mapk1ip1	UTSW	7	138,438,317 (GRCm39)	nonsense	probably null

Posted On

2014-02-04