Mutagenetix > Incidental Mutation

Incidental Mutation 'R5665:Mxra8'

444327

Institutional Source

Beutler Lab

Gene Symbol

Mxra8

Ensembl Gene

ENSMUSG00000029070

Gene Name

matrix-remodelling associated 8

Synonyms

MMRRC Submission

043308-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5665 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

155839680-155844088 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 155842921 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 388 (V388L)

Ref Sequence

ENSEMBL: ENSMUSP00000030947 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030947] [ENSMUST00000030948] [ENSMUST00000141883] [ENSMUST00000168552]

AlphaFold

Q9DBV4

Predicted Effect

probably benign
Transcript: ENSMUST00000030947
AA Change: V388L

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000030947
Gene: ENSMUSG00000029070
AA Change: V388L

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 benign
Transcript: ENSMUST00000030948

SMART Domains

Protein: ENSMUSP00000030948
Gene: ENSMUSG00000029071

Domain	Start	End	E-Value	Type
DAX	1	85	2.17e-52	SMART
Pfam:Dishevelled	144	215	1.1e-31	PFAM
low complexity region	217	233	N/A	INTRINSIC
low complexity region	235	246	N/A	INTRINSIC
PDZ	260	339	3.13e-16	SMART
low complexity region	380	397	N/A	INTRINSIC
DEP	425	499	1.47e-26	SMART
Pfam:Dsh_C	503	685	4.2e-67	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000097740

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126487

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132142

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133184

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133592

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141539

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141766

Predicted Effect

probably benign
Transcript: ENSMUST00000141883

SMART Domains

Protein: ENSMUSP00000114929
Gene: ENSMUSG00000029070

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143457

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143886

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156997

Predicted Effect

probably benign
Transcript: ENSMUST00000168552

SMART Domains

Protein: ENSMUSP00000133137
Gene: ENSMUSG00000029071

Domain	Start	End	E-Value	Type
DAX	1	85	2.17e-52	SMART
Pfam:Dishevelled	90	247	1.7e-60	PFAM
PDZ	260	339	3.13e-16	SMART
low complexity region	380	397	N/A	INTRINSIC
DEP	425	499	1.47e-26	SMART
Pfam:Dsh_C	503	685	7.6e-59	PFAM

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.4%

Validation Efficiency

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	C	T	11: 30,426,349 (GRCm38)	V173M	probably damaging	Het
Acaca	G	T	11: 84,245,294 (GRCm38)	E492*	probably null	Het
Acp7	T	A	7: 28,616,543 (GRCm38)	K206M	probably benign	Het
Agbl1	T	A	7: 76,589,503 (GRCm38)	F584I	probably damaging	Het
Ahi1	A	G	10: 21,055,047 (GRCm38)	I929V	possibly damaging	Het
Ank3	G	A	10: 70,002,565 (GRCm38)	R1566K	possibly damaging	Het
Arhgef40	A	G	14: 52,000,900 (GRCm38)	I1279V	possibly damaging	Het
Arl14	A	C	3: 69,223,038 (GRCm38)	T173P	probably damaging	Het
Asap1	A	G	15: 64,312,453 (GRCm38)	S44P	probably damaging	Het
Btbd7	C	A	12: 102,785,197 (GRCm38)	A1103S	probably benign	Het
Capn10	T	A	1: 92,937,931 (GRCm38)		probably null	Het
Capn7	T	C	14: 31,369,802 (GRCm38)	F719L	probably benign	Het
Casp7	G	A	19: 56,440,982 (GRCm38)	D267N	probably benign	Het
Ccdc13	C	A	9: 121,814,290 (GRCm38)	K348N	probably damaging	Het
Chchd1	T	C	14: 20,703,110 (GRCm38)	F13L	probably benign	Het
Clcn6	T	A	4: 148,014,561 (GRCm38)	M442L	possibly damaging	Het
Col6a3	T	C	1: 90,827,880 (GRCm38)	E229G	probably benign	Het
Cyb5r3	A	G	15: 83,154,554 (GRCm38)	F278S	probably damaging	Het
Dhx16	C	T	17: 35,891,086 (GRCm38)	Q1002*	probably null	Het
Dppa4	T	C	16: 48,291,015 (GRCm38)	L121P	probably benign	Het
Dpyd	A	G	3: 118,917,092 (GRCm38)	E383G	probably damaging	Het
Eif4g3	A	G	4: 138,126,589 (GRCm38)	T489A	probably benign	Het
Elovl1	G	T	4: 118,431,635 (GRCm38)	V174L	probably damaging	Het
Elp3	T	C	14: 65,551,402 (GRCm38)	K392E	possibly damaging	Het
Fancd2os	C	A	6: 113,598,024 (GRCm38)	W7L	probably damaging	Het
Fchsd2	A	G	7: 101,110,784 (GRCm38)	T23A	possibly damaging	Het
Gabrp	C	G	11: 33,554,308 (GRCm38)	A336P	possibly damaging	Het
Gcm2	T	A	13: 41,109,911 (GRCm38)	Y15F	possibly damaging	Het
Gpr132	G	A	12: 112,852,796 (GRCm38)	R137C	probably damaging	Het
Herc1	A	G	9: 66,465,435 (GRCm38)	E3091G	probably damaging	Het
Homer1	A	T	13: 93,356,102 (GRCm38)	M184L	probably benign	Het
Izumo1r	T	C	9: 14,900,849 (GRCm38)	E117G	probably damaging	Het
Kcnt1	C	T	2: 25,901,909 (GRCm38)	Q590*	probably null	Het
Lama1	G	T	17: 67,770,987 (GRCm38)	C1139F	probably damaging	Het
Med29	C	T	7: 28,386,814 (GRCm38)	A190T	probably benign	Het
Mgea5	A	C	19: 45,776,997 (GRCm38)	S124A	probably benign	Het
Muc4	T	C	16: 32,750,782 (GRCm38)	V220A	probably benign	Het
Myo5a	T	C	9: 75,144,181 (GRCm38)		probably null	Het
Myrip	A	G	9: 120,461,433 (GRCm38)	Y706C	probably damaging	Het
Nphp4	T	C	4: 152,506,485 (GRCm38)	V313A	probably benign	Het
Olfm2	T	G	9: 20,668,544 (GRCm38)		probably null	Het
Olfr1113	T	A	2: 87,213,728 (GRCm38)	S279T	probably benign	Het
Olfr248	T	C	1: 174,391,375 (GRCm38)	F102S	probably damaging	Het
Pcdh15	C	T	10: 74,626,788 (GRCm38)	P1398L	probably damaging	Het
Pdpr	A	G	8: 111,114,811 (GRCm38)	E225G	possibly damaging	Het
Pigs	C	A	11: 78,328,769 (GRCm38)		probably null	Het
Pkhd1	T	A	1: 20,588,531 (GRCm38)	T159S	probably damaging	Het
Plk4	A	G	3: 40,813,586 (GRCm38)	T87A	possibly damaging	Het
Plxna4	T	C	6: 32,215,722 (GRCm38)	Y768C	probably damaging	Het
Prl3d3	T	A	13: 27,159,081 (GRCm38)		probably null	Het
Pygb	T	C	2: 150,820,888 (GRCm38)		probably null	Het
Rnf114	T	C	2: 167,510,934 (GRCm38)	I118T	possibly damaging	Het
Sbno2	A	G	10: 80,058,453 (GRCm38)	L1099P	probably benign	Het
Scaper	T	C	9: 55,807,632 (GRCm38)	K791E	probably damaging	Het
Serping1	T	C	2: 84,771,545 (GRCm38)	T194A	probably damaging	Het
Slc12a9	A	G	5: 137,321,403 (GRCm38)	S617P	possibly damaging	Het
Slk	G	A	19: 47,636,457 (GRCm38)	R1039H	probably damaging	Het
Sntb1	T	A	15: 55,792,139 (GRCm38)	E227V	probably benign	Het
Sostdc1	C	A	12: 36,314,408 (GRCm38)	P39T	probably benign	Het
Spred1	C	T	2: 117,153,005 (GRCm38)	R16*	probably null	Het
Srpk2	A	G	5: 23,518,477 (GRCm38)	I547T	probably damaging	Het
Stt3a	A	G	9: 36,759,314 (GRCm38)	Y54H	probably damaging	Het
Stt3b	A	T	9: 115,266,147 (GRCm38)	L272H	probably damaging	Het
Syne2	T	A	12: 76,108,217 (GRCm38)		probably null	Het
Uso1	A	T	5: 92,198,337 (GRCm38)	E793V	possibly damaging	Het
Usp15	A	T	10: 123,130,987 (GRCm38)	L476*	probably null	Het
Vmn1r189	T	C	13: 22,102,166 (GRCm38)	Y167C	probably damaging	Het
Vmn2r24	A	G	6: 123,786,979 (GRCm38)	T272A	possibly damaging	Het
Vps13a	A	T	19: 16,668,690 (GRCm38)	H1994Q	probably damaging	Het
Zbtb10	T	C	3: 9,265,192 (GRCm38)	S537P	probably damaging	Het
Zbtb12	T	C	17: 34,895,883 (GRCm38)	S215P	possibly damaging	Het
Zfp346	T	C	13: 55,113,102 (GRCm38)	M81T	probably benign	Het
Zfp800	T	C	6: 28,244,513 (GRCm38)	D151G	probably null	Het

Other mutations in Mxra8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00235:Mxra8	APN	4	155,842,563 (GRCm38)	missense	probably benign	0.06
IGL01871:Mxra8	APN	4	155,842,801 (GRCm38)	missense	probably benign
IGL02900:Mxra8	APN	4	155,841,211 (GRCm38)	splice site	probably null
IGL02900:Mxra8	APN	4	155,841,119 (GRCm38)	missense	possibly damaging	0.52
Buffet	UTSW	4	155,843,136 (GRCm38)	missense	possibly damaging	0.89
R0206:Mxra8	UTSW	4	155,842,596 (GRCm38)	missense	probably damaging	0.97
R0206:Mxra8	UTSW	4	155,842,596 (GRCm38)	missense	probably damaging	0.97
R0513:Mxra8	UTSW	4	155,841,733 (GRCm38)	missense	probably benign	0.00
R1318:Mxra8	UTSW	4	155,841,499 (GRCm38)	missense	probably damaging	1.00
R1414:Mxra8	UTSW	4	155,841,007 (GRCm38)	missense	probably damaging	0.99
R1775:Mxra8	UTSW	4	155,843,074 (GRCm38)	missense	probably damaging	1.00
R2473:Mxra8	UTSW	4	155,842,043 (GRCm38)	missense	probably damaging	0.99
R4270:Mxra8	UTSW	4	155,841,137 (GRCm38)	missense	probably damaging	0.96
R4519:Mxra8	UTSW	4	155,842,983 (GRCm38)	critical splice donor site	probably null
R4844:Mxra8	UTSW	4	155,842,694 (GRCm38)	missense	probably benign	0.19
R4849:Mxra8	UTSW	4	155,840,874 (GRCm38)	intron	probably benign
R4912:Mxra8	UTSW	4	155,840,904 (GRCm38)	splice site	probably null
R4929:Mxra8	UTSW	4	155,842,661 (GRCm38)	missense	probably damaging	1.00
R5567:Mxra8	UTSW	4	155,841,008 (GRCm38)	missense	probably damaging	1.00
R5913:Mxra8	UTSW	4	155,843,303 (GRCm38)	critical splice acceptor site	probably null
R6250:Mxra8	UTSW	4	155,841,089 (GRCm38)	missense	possibly damaging	0.95
R6857:Mxra8	UTSW	4	155,843,136 (GRCm38)	missense	possibly damaging	0.89
R7142:Mxra8	UTSW	4	155,843,062 (GRCm38)	missense	probably benign	0.23
R7658:Mxra8	UTSW	4	155,842,963 (GRCm38)	missense	probably benign	0.04
R7842:Mxra8	UTSW	4	155,842,910 (GRCm38)	missense	probably damaging	1.00
R8182:Mxra8	UTSW	4	155,841,132 (GRCm38)	nonsense	probably null
R8679:Mxra8	UTSW	4	155,842,665 (GRCm38)	missense	probably damaging	1.00
R9803:Mxra8	UTSW	4	155,839,825 (GRCm38)	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- ACAGAGGGGCCCAGATTAAC -3'
(R):5'- AGTGCTCACCTTTATCCAGATC -3'

Sequencing Primer
(F):5'- GCCCAGATTAACCGAGAACAGTG -3'
(R):5'- AGATCCACATCCTTGGCAGG -3'

Posted On

2016-11-09