Mutagenetix > Incidental Mutation

Incidental Mutation 'R8182:Mxra8'

634667

Institutional Source

Beutler Lab

Gene Symbol

Mxra8

Ensembl Gene

ENSMUSG00000029070

Gene Name

matrix-remodelling associated 8

Synonyms

1200013A08Rik, Asp3, limitrin, DICAM

MMRRC Submission

067606-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8182 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

155924137-155928545 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to G at 155925589 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 99 (Y99*)

Ref Sequence

ENSEMBL: ENSMUSP00000030947 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030947] [ENSMUST00000141883]

AlphaFold

Q9DBV4

Predicted Effect

probably null
Transcript: ENSMUST00000030947
AA Change: Y99*

SMART Domains

Protein: ENSMUSP00000030947
Gene: ENSMUSG00000029070
AA Change: Y99*

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
IG	38	156	6.16e-4	SMART
IG	170	291	9.71e-2	SMART
transmembrane domain	340	362	N/A	INTRINSIC
low complexity region	371	384	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000141883
AA Change: Y96*

SMART Domains

Protein: ENSMUSP00000114929
Gene: ENSMUSG00000029070
AA Change: Y96*

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
IG	35	153	6.16e-4	SMART
IG	167	288	9.71e-2	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

98% (48/49)

MGI Phenotype

PHENOTYPE: Phenotypic analysis of mice homozygous for a gene trap allele indicates this mutation has no notable phenotype in any parameter tested in a high-throughput screen. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adprhl1	A	G	8: 13,272,774 (GRCm39)	V1328A	probably benign	Het
Akna	T	C	4: 63,313,034 (GRCm39)	Y363C	probably damaging	Het
Aph1c	A	G	9: 66,740,549 (GRCm39)	I59T	possibly damaging	Het
Bbs7	A	T	3: 36,664,372 (GRCm39)	F100I	probably damaging	Het
Cibar1	T	C	4: 12,171,842 (GRCm39)	H30R	probably benign	Het
Eef2k	G	A	7: 120,472,626 (GRCm39)	R113Q	probably damaging	Het
Fam221b	G	A	4: 43,660,342 (GRCm39)	R416C	probably damaging	Het
Fam98b	C	A	2: 117,080,302 (GRCm39)	D18E	probably damaging	Het
Fat2	T	A	11: 55,175,223 (GRCm39)	Y1830F	possibly damaging	Het
Fbrsl1	T	A	5: 110,526,861 (GRCm39)	Q221L	possibly damaging	Het
Fbxo4	T	C	15: 3,998,451 (GRCm39)	R336G	probably damaging	Het
Fbxw15	A	T	9: 109,384,778 (GRCm39)	C341S	probably benign	Het
Fip1l1	T	C	5: 74,748,813 (GRCm39)	S398P	probably damaging	Het
Fsip2	A	G	2: 82,806,951 (GRCm39)	D1090G	probably damaging	Het
Fyb1	T	A	15: 6,681,293 (GRCm39)	M706K	probably benign	Het
Glg1	A	T	8: 111,897,929 (GRCm39)	F747I	possibly damaging	Het
Gm8257	A	G	14: 44,887,623 (GRCm39)	L254P	probably benign	Het
Hnf4g	T	C	3: 3,716,679 (GRCm39)	Y283H	possibly damaging	Het
Irx6	C	A	8: 93,403,642 (GRCm39)	Y122*	probably null	Het
Jph4	C	T	14: 55,347,213 (GRCm39)	G445R	possibly damaging	Het
Kif16b	G	T	2: 142,554,819 (GRCm39)	R660S	possibly damaging	Het
Kif21a	C	T	15: 90,819,964 (GRCm39)	G1556D	possibly damaging	Het
Kif3a	T	A	11: 53,485,133 (GRCm39)	Y531*	probably null	Het
Lrp2	T	C	2: 69,319,673 (GRCm39)	D1950G	probably damaging	Het
Med23	T	G	10: 24,788,705 (GRCm39)	S1371A	probably benign	Het
Mef2a	T	A	7: 66,917,875 (GRCm39)	E112D	probably benign	Het
Nbeal1	A	G	1: 60,239,292 (GRCm39)	T112A	probably benign	Het
Or8b49	G	A	9: 38,505,840 (GRCm39)	V108I	probably benign	Het
Pclo	G	A	5: 14,905,634 (GRCm39)	E4955K	unknown	Het
Poc1b	T	C	10: 98,991,005 (GRCm39)		probably null	Het
Ptbp2	A	G	3: 119,534,078 (GRCm39)	Y264H	probably damaging	Het
Rhobtb2	A	G	14: 70,034,070 (GRCm39)	V385A	probably benign	Het
Rlf	G	A	4: 121,008,102 (GRCm39)	P403S	possibly damaging	Het
Rnase9	T	C	14: 51,276,537 (GRCm39)	N147S	probably benign	Het
Serpinb9f	A	G	13: 33,518,603 (GRCm39)	I368V	probably benign	Het
Slc1a1	A	T	19: 28,878,848 (GRCm39)	T196S	probably benign	Het
Smarca2	A	G	19: 26,608,120 (GRCm39)	S60G	probably benign	Het
Tbc1d4	A	T	14: 101,744,990 (GRCm39)	V212E	probably damaging	Het
Thap12	T	A	7: 98,365,584 (GRCm39)	I584N	probably damaging	Het
Ube3b	T	A	5: 114,530,199 (GRCm39)	N195K	possibly damaging	Het
Upk3b	T	C	5: 136,067,982 (GRCm39)	C58R	probably damaging	Het
Ush1c	A	G	7: 45,847,775 (GRCm39)		probably null	Het
Vmn1r60	T	C	7: 5,547,876 (GRCm39)	T75A		Het
Vmn2r77	T	A	7: 86,460,801 (GRCm39)	L709H	probably damaging	Het
Wdcp	T	C	12: 4,901,850 (GRCm39)	S569P	probably damaging	Het
Zfp418	A	T	7: 7,184,658 (GRCm39)	N207I	probably benign	Het
Zfp764l1	C	T	7: 126,992,496 (GRCm39)	C38Y	probably null	Het
Zfp808	G	A	13: 62,319,521 (GRCm39)	C250Y	probably damaging	Het

Other mutations in Mxra8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00235:Mxra8	APN	4	155,927,020 (GRCm39)	missense	probably benign	0.06
IGL01871:Mxra8	APN	4	155,927,258 (GRCm39)	missense	probably benign
IGL02900:Mxra8	APN	4	155,925,668 (GRCm39)	splice site	probably null
IGL02900:Mxra8	APN	4	155,925,576 (GRCm39)	missense	possibly damaging	0.52
Buffet	UTSW	4	155,927,593 (GRCm39)	missense	possibly damaging	0.89
R0206:Mxra8	UTSW	4	155,927,053 (GRCm39)	missense	probably damaging	0.97
R0206:Mxra8	UTSW	4	155,927,053 (GRCm39)	missense	probably damaging	0.97
R0513:Mxra8	UTSW	4	155,926,190 (GRCm39)	missense	probably benign	0.00
R1318:Mxra8	UTSW	4	155,925,956 (GRCm39)	missense	probably damaging	1.00
R1414:Mxra8	UTSW	4	155,925,464 (GRCm39)	missense	probably damaging	0.99
R1775:Mxra8	UTSW	4	155,927,531 (GRCm39)	missense	probably damaging	1.00
R2473:Mxra8	UTSW	4	155,926,500 (GRCm39)	missense	probably damaging	0.99
R4270:Mxra8	UTSW	4	155,925,594 (GRCm39)	missense	probably damaging	0.96
R4519:Mxra8	UTSW	4	155,927,440 (GRCm39)	critical splice donor site	probably null
R4844:Mxra8	UTSW	4	155,927,151 (GRCm39)	missense	probably benign	0.19
R4849:Mxra8	UTSW	4	155,925,331 (GRCm39)	intron	probably benign
R4912:Mxra8	UTSW	4	155,925,361 (GRCm39)	splice site	probably null
R4929:Mxra8	UTSW	4	155,927,118 (GRCm39)	missense	probably damaging	1.00
R5567:Mxra8	UTSW	4	155,925,465 (GRCm39)	missense	probably damaging	1.00
R5665:Mxra8	UTSW	4	155,927,378 (GRCm39)	missense	probably benign	0.01
R5913:Mxra8	UTSW	4	155,927,760 (GRCm39)	critical splice acceptor site	probably null
R6250:Mxra8	UTSW	4	155,925,546 (GRCm39)	missense	possibly damaging	0.95
R6857:Mxra8	UTSW	4	155,927,593 (GRCm39)	missense	possibly damaging	0.89
R7142:Mxra8	UTSW	4	155,927,519 (GRCm39)	missense	probably benign	0.23
R7658:Mxra8	UTSW	4	155,927,420 (GRCm39)	missense	probably benign	0.04
R7842:Mxra8	UTSW	4	155,927,367 (GRCm39)	missense	probably damaging	1.00
R8679:Mxra8	UTSW	4	155,927,122 (GRCm39)	missense	probably damaging	1.00
R9803:Mxra8	UTSW	4	155,924,282 (GRCm39)	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- AGCTCTCTGGTGTCTGAGTC -3'
(R):5'- AATCGGCCAATCCCTTCTAGG -3'

Sequencing Primer
(F):5'- AGTCTGTGGTGAGCTTGGCAG -3'
(R):5'- TTAGGAAGGCCTCTCAGCTC -3'

Posted On

2020-07-13