Mutagenetix > Incidental Mutations

Incidental Mutation 'R7191:Mpzl3'

559602

Institutional Source

Beutler Lab

Gene Symbol

Mpzl3

Ensembl Gene

ENSMUSG00000070305

Gene Name

myelin protein zero-like 3

Synonyms

A530065I17Rik, 5430427F17Rik, rc

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

R7191 (G1)

Quality Score

207.009

Status

Validated

Chromosome

Chromosomal Location

45055186-45077436 bp(+) (GRCm38)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

T to G at 45055244 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Arginine at position 1 (M1R)

Ref Sequence

ENSEMBL: ENSMUSP00000110312 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034600] [ENSMUST00000114663] [ENSMUST00000114664]

Predicted Effect

probably benign
Transcript: ENSMUST00000034600

SMART Domains

Protein: ENSMUSP00000034600
Gene: ENSMUSG00000032092

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
IGv	42	125	9.05e-11	SMART
transmembrane domain	153	175	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000114663
AA Change: M1R

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000110311
Gene: ENSMUSG00000070305
AA Change: M1R

Domain	Start	End	E-Value	Type
IG	38	149	3.35e-5	SMART
Blast:IG_like	150	230	6e-26	BLAST

Predicted Effect

probably null
Transcript: ENSMUST00000114664
AA Change: M1R

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000110312
Gene: ENSMUSG00000070305
AA Change: M1R

Domain	Start	End	E-Value	Type
signal peptide	1	32	N/A	INTRINSIC
IG	38	149	3.35e-5	SMART
Blast:IG_like	150	229	3e-25	BLAST

Meta Mutation Damage Score

0.9538

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (52/52)

MGI Phenotype

PHENOTYPE: Mice homozygous for a spontaneous allele have a rough coat that becomes brittle and oily with age, and display stunted growth, cyclic and progressive hair loss, hyperplastic epidermis, abnormal hair follicles, myocardial degeneration, and reduced collagen and elastin content in the skin and heart. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510009E07Rik	T	A	16: 21,653,564	I129F	probably benign	Het
Ank2	T	A	3: 126,946,392	T1948S	unknown	Het
Arap1	T	C	7: 101,384,992	C214R	probably benign	Het
BC024978	G	A	7: 27,201,123	A176T	probably damaging	Het
Ccdc82	C	T	9: 13,252,472	Q130*	probably null	Het
Cfh	A	C	1: 140,112,567	V597G	probably benign	Het
Clp1	A	T	2: 84,724,146	C226*	probably null	Het
Cyp39a1	G	A	17: 43,731,019	W372*	probably null	Het
Dchs1	G	A	7: 105,765,439	P799S	possibly damaging	Het
Dmbt1	A	T	7: 131,044,520	N167I	unknown	Het
Dock10	A	G	1: 80,540,331	S1310P	possibly damaging	Het
Fam83h	C	T	15: 76,003,037	G817D	probably damaging	Het
Fras1	A	G	5: 96,614,912	T758A	probably benign	Het
Fryl	T	C	5: 73,072,912	H1634R	probably damaging	Het
Gcg	C	G	2: 62,476,839	G126A	probably damaging	Het
Gm4763	C	T	7: 24,723,334	V105I	possibly damaging	Het
Gm4951	A	T	18: 60,246,257	D288V	probably benign	Het
Gne	T	C	4: 44,040,266	K633E	probably benign	Het
Gpr4	T	C	7: 19,223,230	V359A	probably benign	Het
Gprc5c	C	T	11: 114,868,617	T422M	possibly damaging	Het
Gria2	C	A	3: 80,732,085	V207L	probably benign	Het
Hid1	T	C	11: 115,348,469	*789W	probably null	Het
Jakmip3	G	A	7: 138,989,528		probably null	Het
Kin	G	A	2: 10,091,793	R151Q	probably benign	Het
Krt16	T	C	11: 100,246,658	E407G	probably damaging	Het
Krt81	T	C	15: 101,460,229	D381G	probably damaging	Het
Lrrc34	C	T	3: 30,624,878	G357S	possibly damaging	Het
Mipol1	A	G	12: 57,457,066	Q340R	probably benign	Het
Nrcam	A	G	12: 44,572,244	N852S	probably benign	Het
Nudcd2	C	T	11: 40,736,603	Q117*	probably null	Het
Nup35	A	T	2: 80,658,379	E320V	probably damaging	Het
Olfml3	T	C	3: 103,735,860	K402E	probably damaging	Het
Olfr477	G	A	7: 107,990,646	V94M	possibly damaging	Het
Pkhd1	T	C	1: 20,558,719	H668R	probably benign	Het
Ptprc	T	A	1: 138,101,044	D333V	probably benign	Het
Rdh16	A	G	10: 127,813,418	K248E	probably benign	Het
Samd4b	C	A	7: 28,414,261	G93V	probably benign	Het
Scgn	A	G	13: 23,981,493	I78T	probably benign	Het
Slfn14	T	C	11: 83,276,749	I647V	probably benign	Het
Smyd5	T	C	6: 85,440,111	V157A	probably benign	Het
Syde2	T	C	3: 146,002,358	M951T	probably benign	Het
Tas2r105	T	C	6: 131,686,982	N161S	probably damaging	Het
Tbck	T	C	3: 132,737,555	F581L	probably damaging	Het
Traip	A	G	9: 107,970,017	N352D	probably benign	Het
Trim29	A	G	9: 43,311,609	Y245C	probably damaging	Het
Trpv4	T	C	5: 114,633,140	I443V	probably benign	Het
Usp36	C	T	11: 118,268,834	E595K	probably benign	Het
Vmn2r51	T	A	7: 10,100,553	Y186F	probably null	Het
Vmn2r97	A	G	17: 18,930,286	Y465C	probably damaging	Het
Wrb	A	G	16: 96,151,945	I79V	possibly damaging	Het
Zfp277	A	T	12: 40,329,562	H324Q	probably damaging	Het
Zfp987	A	G	4: 146,121,903	D17G	probably damaging	Het

Other mutations in Mpzl3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02420:Mpzl3	APN	9	45066517	missense	possibly damaging	0.95
IGL02969:Mpzl3	APN	9	45068216	missense	probably benign	0.00
mausolus	UTSW	9	45068252	missense	probably damaging	1.00
satrap	UTSW	9	45055244	start codon destroyed	probably null	0.06
R0069:Mpzl3	UTSW	9	45068252	missense	probably damaging	1.00
R0196:Mpzl3	UTSW	9	45062160	missense	probably damaging	0.98
R0557:Mpzl3	UTSW	9	45066508	missense	probably damaging	1.00
R1511:Mpzl3	UTSW	9	45066529	missense	probably damaging	0.99
R4580:Mpzl3	UTSW	9	45068231	missense	possibly damaging	0.94
R4775:Mpzl3	UTSW	9	45066432	missense	probably damaging	1.00
R4825:Mpzl3	UTSW	9	45068329	missense	probably benign	0.00
R4972:Mpzl3	UTSW	9	45062256	intron	probably benign
R5189:Mpzl3	UTSW	9	45062110	missense	possibly damaging	0.95
R5371:Mpzl3	UTSW	9	45055212	utr 5 prime	probably benign
R5925:Mpzl3	UTSW	9	45062114	missense	probably damaging	1.00
R7561:Mpzl3	UTSW	9	45055312	missense	probably benign
R7570:Mpzl3	UTSW	9	45070687	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GAACCGCTGATGAGGGTAAC -3'
(R):5'- AAGTCTCACAAGGTGGTCGG -3'

Sequencing Primer
(F):5'- CCGGGTACGATTCTAGTAACAATC -3'
(R):5'- GGAACCAACTCTCCGCAGTG -3'

Posted On

2019-06-26