Mutagenetix > Incidental Mutation

Incidental Mutation 'R1620:Maip1'

174588

Institutional Source

Beutler Lab

Gene Symbol

Maip1

Ensembl Gene

ENSMUSG00000025971

Gene Name

matrix AAA peptidase interacting protein 1

Synonyms

9430016H08Rik

MMRRC Submission

039657-MU

Accession Numbers

Essential gene?

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

Stock #

R1620 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

57445487-57457112 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 57449144 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000027114 (fasta)

Gene Model

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

AlphaFold

Q8BHE8

Predicted Effect

probably null
Transcript: ENSMUST00000027114

SMART Domains

Protein: ENSMUSP00000027114
Gene: ENSMUSG00000025971

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

Meta Mutation Damage Score

0.9493

Coding Region Coverage

1x: 99.1%
3x: 98.1%
10x: 95.6%
20x: 90.1%

Validation Efficiency

95% (58/61)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp2c2	T	C	8: 120,475,865 (GRCm39)	V586A	probably benign	Het
Atp8a2	T	A	14: 60,028,632 (GRCm39)	H945L	probably benign	Het
Bfar	G	T	16: 13,506,710 (GRCm39)	V187F	probably damaging	Het
Capn2	A	T	1: 182,344,702 (GRCm39)	I73N	probably damaging	Het
Cfc1	C	A	1: 34,575,554 (GRCm39)	A76E	possibly damaging	Het
Chl1	T	C	6: 103,667,203 (GRCm39)	F398L	probably benign	Het
Cyp2u1	A	G	3: 131,096,350 (GRCm39)	S143P	probably damaging	Het
Dlgap4	T	A	2: 156,591,056 (GRCm39)	Y57*	probably null	Het
Epha4	T	A	1: 77,351,563 (GRCm39)	R897S	probably benign	Het
Fscn2	A	T	11: 120,257,511 (GRCm39)	T291S	probably damaging	Het
Gga1	G	A	15: 78,772,670 (GRCm39)	S267N	probably damaging	Het
Gigyf2	A	G	1: 87,376,850 (GRCm39)	T1287A	probably damaging	Het
Gm10845	C	A	14: 80,100,669 (GRCm39)		noncoding transcript	Het
Gm11559	T	A	11: 99,755,882 (GRCm39)	L177Q	unknown	Het
Itga9	A	G	9: 118,672,570 (GRCm39)	T195A	probably benign	Het
Krbox5	T	C	13: 67,991,109 (GRCm39)		probably benign	Het
Lama1	A	G	17: 68,074,028 (GRCm39)	T935A	probably benign	Het
Lrrk1	G	T	7: 66,031,286 (GRCm39)	T4K	probably benign	Het
Lrrn1	G	A	6: 107,545,327 (GRCm39)	C375Y	probably damaging	Het
Mecom	A	T	3: 30,041,237 (GRCm39)	I119N	probably damaging	Het
Mrpl2	G	A	17: 46,958,425 (GRCm39)	R69H	probably benign	Het
Muc16	A	G	9: 18,421,773 (GRCm39)	V8246A	possibly damaging	Het
Myh3	C	T	11: 66,979,562 (GRCm39)		probably benign	Het
Myocd	A	G	11: 65,087,220 (GRCm39)	S236P	probably benign	Het
Myot	A	T	18: 44,470,125 (GRCm39)	Q34L	possibly damaging	Het
Nlrp5	A	G	7: 23,118,064 (GRCm39)	D596G	probably damaging	Het
Npas2	T	C	1: 39,372,993 (GRCm39)	S415P	possibly damaging	Het
Obox2	A	G	7: 15,130,966 (GRCm39)	E66G	probably benign	Het
Or4f59	G	T	2: 111,872,591 (GRCm39)	T262K	probably benign	Het
Pcdh9	G	A	14: 94,125,741 (GRCm39)	P143L	probably damaging	Het
Phactr1	G	T	13: 43,248,373 (GRCm39)	V356L	probably damaging	Het
Pparg	A	T	6: 115,450,242 (GRCm39)	I414L	probably benign	Het
Rapgef6	A	T	11: 54,517,420 (GRCm39)	I371L	possibly damaging	Het
Rc3h1	T	C	1: 160,782,543 (GRCm39)	V674A	probably benign	Het
Rps6ka4	T	C	19: 6,815,517 (GRCm39)	Y159C	probably damaging	Het
Sf3b6	T	C	12: 4,876,808 (GRCm39)	I67T	possibly damaging	Het
Sp140l2	A	G	1: 85,231,907 (GRCm39)		probably benign	Het
Spata17	T	C	1: 186,915,412 (GRCm39)		probably benign	Het
Ston1	A	G	17: 88,943,244 (GRCm39)	T217A	probably benign	Het
Tank	A	G	2: 61,480,442 (GRCm39)	D326G	possibly damaging	Het
Tbc1d9	T	A	8: 83,976,224 (GRCm39)	N594K	probably damaging	Het
Tfpi2	T	A	6: 3,965,507 (GRCm39)	T102S	probably benign	Het
Ulk4	T	G	9: 121,033,871 (GRCm39)	E589D	possibly damaging	Het
Usp40	A	T	1: 87,921,947 (GRCm39)	H305Q	probably damaging	Het
Vmn1r170	A	G	7: 23,305,754 (GRCm39)	K52R	probably benign	Het
Vmn1r194	A	G	13: 22,429,133 (GRCm39)	D250G	probably damaging	Het
Wdr6	A	T	9: 108,451,854 (GRCm39)	D676E	possibly damaging	Het
Xirp2	T	A	2: 67,341,179 (GRCm39)	V1140E	probably damaging	Het

Other mutations in Maip1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02732:Maip1	APN	1	57,449,114 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- GCAAGCCATCTGAGAAAAGGCAATC -3'
(R):5'- GCCTATCTATGCTGCTAAGTGCCC -3'

Sequencing Primer
(F):5'- GCTATCACGTTTACCATAAAGCAG -3'
(R):5'- GCTAAGTGCCCGGAGTTG -3'

Posted On

2014-04-24