Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02732:Maip1'

305494

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Maip1

Ensembl Gene

ENSMUSG00000025971

Gene Name

matrix AAA peptidase interacting protein 1

Synonyms

9430016H08Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.092) question?

Stock #

IGL02732

Quality Score

Status

Chromosome

Chromosomal Location

57445487-57457112 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 57449114 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 165 (D165G)

Ref Sequence

ENSEMBL: ENSMUSP00000027114 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027114] [ENSMUST00000079998] [ENSMUST00000160118] [ENSMUST00000160837] [ENSMUST00000162686]

AlphaFold

Q8BHE8

Predicted Effect

probably damaging
Transcript: ENSMUST00000027114
AA Change: D165G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000027114
Gene: ENSMUSG00000025971
AA Change: D165G

Domain	Start	End	E-Value	Type
low complexity region	2	18	N/A	INTRINSIC
low complexity region	66	78	N/A	INTRINSIC
low complexity region	82	93	N/A	INTRINSIC
low complexity region	98	109	N/A	INTRINSIC
Blast:Tim44	131	210	3e-11	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000079998

SMART Domains

Protein: ENSMUSP00000078912
Gene: ENSMUSG00000048495

Domain	Start	End	E-Value	Type
PDB:3AL6\|D	1	71	3e-39	PDB

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000097732

Predicted Effect

probably benign
Transcript: ENSMUST00000160118

SMART Domains

Protein: ENSMUSP00000125386
Gene: ENSMUSG00000048495

Domain	Start	End	E-Value	Type
PDB:3AL6\|D	1	71	1e-38	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000160837

SMART Domains

Protein: ENSMUSP00000128576
Gene: ENSMUSG00000048495

Domain	Start	End	E-Value	Type
JmjC	103	255	2.25e-2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161780

SMART Domains

Protein: ENSMUSP00000125487
Gene: ENSMUSG00000048495

Domain	Start	End	E-Value	Type
PDB:3AL6\|D	1	71	3e-39	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000162686

SMART Domains

Protein: ENSMUSP00000125427
Gene: ENSMUSG00000048495

Domain	Start	End	E-Value	Type
JmjC	105	265	5.8e-3	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185709

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apoo-ps	C	A	13: 107,551,123 (GRCm39)		noncoding transcript	Het
Ash1l	T	A	3: 88,873,535 (GRCm39)	V106E	probably damaging	Het
Baz2a	A	G	10: 127,961,044 (GRCm39)	T1618A	possibly damaging	Het
Brca1	A	G	11: 101,383,045 (GRCm39)	S1732P	probably benign	Het
Cdh1	T	A	8: 107,392,955 (GRCm39)	I813N	probably damaging	Het
Cdk5rap2	G	A	4: 70,184,902 (GRCm39)	R1183*	probably null	Het
Cep170	C	T	1: 176,564,440 (GRCm39)	E1479K	probably damaging	Het
Cep68	A	T	11: 20,186,109 (GRCm39)		probably benign	Het
Cog7	C	T	7: 121,522,590 (GRCm39)	V750I	probably benign	Het
Cplane1	A	G	15: 8,209,375 (GRCm39)	T271A	probably benign	Het
Cyb5d1	A	C	11: 69,284,635 (GRCm39)		probably null	Het
Dlgap4	A	G	2: 156,591,243 (GRCm39)	K120E	probably benign	Het
Dmtf1	T	C	5: 9,186,098 (GRCm39)	I75V	possibly damaging	Het
Fnip2	T	C	3: 79,373,004 (GRCm39)	T995A	probably damaging	Het
Hecw2	G	A	1: 53,965,847 (GRCm39)		probably benign	Het
Il17rd	T	A	14: 26,809,376 (GRCm39)	F111I	probably damaging	Het
Itgb8	A	C	12: 119,127,088 (GRCm39)	M722R	probably benign	Het
Mcm6	A	T	1: 128,287,227 (GRCm39)	C26S	probably benign	Het
Mdp1	T	C	14: 55,896,678 (GRCm39)	I128V	possibly damaging	Het
Myof	A	T	19: 37,966,164 (GRCm39)	F385L	possibly damaging	Het
Nebl	C	T	2: 17,457,295 (GRCm39)		probably benign	Het
Nusap1	A	G	2: 119,466,061 (GRCm39)	E227G	probably damaging	Het
Or4b13	A	G	2: 90,082,652 (GRCm39)	S227P	probably damaging	Het
Or51m1	T	G	7: 103,578,336 (GRCm39)	M102R	probably damaging	Het
Or52e3	A	C	7: 102,869,447 (GRCm39)	N174T	probably benign	Het
Pamr1	A	T	2: 102,472,486 (GRCm39)	H595L	probably benign	Het
Pate5	C	T	9: 35,750,345 (GRCm39)	G109D	probably damaging	Het
Pdgfc	G	A	3: 80,944,864 (GRCm39)		probably benign	Het
Pierce1	T	C	2: 28,355,192 (GRCm39)	N91S	probably damaging	Het
Ptpn22	A	T	3: 103,793,349 (GRCm39)	E500V	probably damaging	Het
Ptprg	G	T	14: 12,225,617 (GRCm38)		probably null	Het
R3hdm2	T	C	10: 127,319,929 (GRCm39)	F513L	probably benign	Het
Ramac	T	C	7: 81,417,473 (GRCm39)		probably null	Het
Rhobtb3	C	A	13: 76,059,056 (GRCm39)	L247F	probably damaging	Het
Scfd1	T	C	12: 51,469,756 (GRCm39)	S434P	probably benign	Het
Serpinb3d	T	A	1: 107,010,526 (GRCm39)		probably null	Het
Sin3b	T	C	8: 73,460,081 (GRCm39)	F223L	possibly damaging	Het
Slc9c1	T	C	16: 45,370,548 (GRCm39)	V263A	possibly damaging	Het
Sntb1	A	G	15: 55,655,596 (GRCm39)	S207P	possibly damaging	Het
Sqor	A	T	2: 122,641,682 (GRCm39)	T1S	possibly damaging	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Ssh2	A	G	11: 77,328,602 (GRCm39)		probably null	Het
Tasor2	A	G	13: 3,623,626 (GRCm39)	V2108A	probably benign	Het
Tmod2	A	G	9: 75,493,454 (GRCm39)	V167A	possibly damaging	Het
Trak2	G	A	1: 58,949,222 (GRCm39)	T526M	probably benign	Het
Trdn	G	A	10: 33,344,195 (GRCm39)		probably null	Het
Trim5	T	A	7: 103,927,672 (GRCm39)	E156V	probably benign	Het
Twf1	A	G	15: 94,478,890 (GRCm39)	S273P	probably damaging	Het
Xylt1	T	C	7: 117,191,164 (GRCm39)	V320A	possibly damaging	Het
Zfp518a	G	A	19: 40,903,061 (GRCm39)	G997R	probably damaging	Het

Other mutations in Maip1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03064:Maip1	APN	1	57,446,359 (GRCm39)	missense	probably damaging	1.00
R0403:Maip1	UTSW	1	57,446,355 (GRCm39)	missense	probably benign	0.14
R0411:Maip1	UTSW	1	57,454,852 (GRCm39)	missense	probably damaging	1.00
R0732:Maip1	UTSW	1	57,450,994 (GRCm39)	missense	probably damaging	1.00
R1569:Maip1	UTSW	1	57,452,554 (GRCm39)	splice site	probably benign
R1620:Maip1	UTSW	1	57,449,144 (GRCm39)	critical splice donor site	probably null
R2830:Maip1	UTSW	1	57,454,822 (GRCm39)	missense	possibly damaging	0.53
R4574:Maip1	UTSW	1	57,452,404 (GRCm39)	missense	possibly damaging	0.90
R4605:Maip1	UTSW	1	57,450,891 (GRCm39)	missense	probably benign	0.00
R5082:Maip1	UTSW	1	57,451,010 (GRCm39)	critical splice donor site	probably null
R5178:Maip1	UTSW	1	57,454,849 (GRCm39)	missense	probably benign	0.06
R5262:Maip1	UTSW	1	57,446,131 (GRCm39)	missense	probably damaging	0.96
R5883:Maip1	UTSW	1	57,446,260 (GRCm39)	missense	probably damaging	0.99
R6837:Maip1	UTSW	1	57,454,891 (GRCm39)	makesense	probably null
R7445:Maip1	UTSW	1	57,446,190 (GRCm39)	missense	possibly damaging	0.79
R7687:Maip1	UTSW	1	57,451,003 (GRCm39)	missense	probably damaging	0.98
R8408:Maip1	UTSW	1	57,449,102 (GRCm39)	missense	probably damaging	1.00
R8956:Maip1	UTSW	1	57,450,961 (GRCm39)	missense	probably damaging	1.00
R9093:Maip1	UTSW	1	57,446,311 (GRCm39)	missense	possibly damaging	0.92

Posted On

2015-04-16