Mutagenetix > Incidental Mutations

Incidental Mutation 'R0557:Mpzl3'

45639

Institutional Source

Beutler Lab

Gene Symbol

Mpzl3

Ensembl Gene

ENSMUSG00000070305

Gene Name

myelin protein zero-like 3

Synonyms

A530065I17Rik, 5430427F17Rik, rc

MMRRC Submission

038749-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R0557 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

45055186-45077436 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 45066508 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 138 (Y138C)

Ref Sequence

ENSEMBL: ENSMUSP00000110312 (fasta)

Gene Model

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000093856

SMART Domains

Protein: ENSMUSP00000091378
Gene: ENSMUSG00000070305

Domain	Start	End	E-Value	Type
signal peptide	1	32	N/A	INTRINSIC
Blast:IG	38	82	5e-25	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000114663

SMART Domains

Protein: ENSMUSP00000110311
Gene: ENSMUSG00000070305

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000114664
AA Change: Y138C

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000110312
Gene: ENSMUSG00000070305
AA Change: Y138C

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186268

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187113

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.3%

Validation Efficiency

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610008E11Rik	G	A	10: 79,067,685	H266Y	probably damaging	Het
Abi3bp	C	T	16: 56,668,387	R1294C	probably damaging	Het
Acot3	T	C	12: 84,058,856	Y366H	probably damaging	Het
Ago1	A	G	4: 126,460,024	V254A	probably benign	Het
Ahnak	T	A	19: 9,001,944	D197E	probably benign	Het
Aldh1b1	A	T	4: 45,802,647	T62S	probably benign	Het
Alox12e	T	C	11: 70,321,448	R135G	possibly damaging	Het
Amn1	T	C	6: 149,171,005	Y78C	possibly damaging	Het
Ankmy2	G	A	12: 36,187,766	S288N	probably benign	Het
Ano3	A	T	2: 110,862,952		probably null	Het
Arfgap3	T	C	15: 83,303,185	D491G	probably damaging	Het
Arhgap15	T	C	2: 44,116,617	S249P	possibly damaging	Het
Atp9b	A	G	18: 80,765,922	V211A	probably damaging	Het
Cabin1	A	G	10: 75,726,917	Y12H	probably damaging	Het
Cdkn2aip	T	C	8: 47,712,942	T110A	probably damaging	Het
Chchd6	A	G	6: 89,574,587	S31P	probably damaging	Het
Chrna3	A	G	9: 55,015,865	Y220H	probably damaging	Het
Ctu1	A	G	7: 43,677,159	D414G	unknown	Het
Cxxc1	C	T	18: 74,218,774	R241W	possibly damaging	Het
Cyp3a16	A	G	5: 145,469,588	I18T	unknown	Het
Dip2c	A	T	13: 9,553,459	I405F	possibly damaging	Het
Disp3	A	T	4: 148,241,404	M1299K	possibly damaging	Het
Dnah9	T	G	11: 66,084,666	H1519P	probably damaging	Het
Ehd3	C	A	17: 73,829,933	Q366K	probably benign	Het
Exosc3	A	T	4: 45,316,957	M232K	probably damaging	Het
Fam196a	A	G	7: 134,918,705	L32P	probably damaging	Het
Fancm	T	C	12: 65,118,442		probably null	Het
Fgfr2	A	G	7: 130,219,081	V241A	probably damaging	Het
Gdf2	C	T	14: 33,941,221	P24L	probably damaging	Het
Hars2	T	C	18: 36,791,077	I489T	possibly damaging	Het
Ice1	T	C	13: 70,601,191	I1945V	probably benign	Het
Il33	A	C	19: 29,954,636	N143T	probably damaging	Het
Ilvbl	G	A	10: 78,583,487	W313*	probably null	Het
Isca1	G	T	13: 59,756,974	Q91K	possibly damaging	Het
Kcnh5	T	A	12: 75,114,549	Y195F	probably damaging	Het
Lama4	T	G	10: 39,088,397	I1355S	probably benign	Het
Lonrf1	T	C	8: 36,230,420	D470G	probably benign	Het
Mak	A	G	13: 41,039,659	Y446H	probably benign	Het
Mki67	C	T	7: 135,699,261	S1348N	possibly damaging	Het
Myh8	T	C	11: 67,301,798	L1501P	possibly damaging	Het
Naa35	A	G	13: 59,627,964	E552G	probably damaging	Het
Ncor2	A	T	5: 125,106,305	L200*	probably null	Het
Nrm	T	C	17: 35,864,632	V210A	probably damaging	Het
Nt5e	T	A	9: 88,366,466	N405K	probably damaging	Het
Olfr108	T	A	17: 37,445,821	I100N	probably damaging	Het
Olfr350	T	A	2: 36,850,748	I234N	possibly damaging	Het
Orc2	T	C	1: 58,469,687	S434G	probably damaging	Het
Plcb4	G	A	2: 135,954,349	V388I	probably damaging	Het
Ppm1l	A	G	3: 69,497,901	D177G	probably benign	Het
Prl8a2	A	T	13: 27,352,892	R165*	probably null	Het
Ptbp3	G	A	4: 59,517,684	R66*	probably null	Het
Pten	A	G	19: 32,817,890	T286A	probably benign	Het
Rac2	C	T	15: 78,564,974	V113M	probably damaging	Het
Rai1	C	T	11: 60,190,495	T1795I	probably benign	Het
Ros1	T	G	10: 52,085,263	K1792Q	possibly damaging	Het
Sema6a	A	G	18: 47,249,500	V660A	probably benign	Het
Slc22a23	C	T	13: 34,344,383	G139S	possibly damaging	Het
Slc26a5	A	G	5: 21,819,764	S441P	probably damaging	Het
Slc27a3	A	G	3: 90,386,856	L462P	probably damaging	Het
Spag5	T	A	11: 78,314,211	S607R	probably damaging	Het
Spata18	A	T	5: 73,651,670	N29Y	probably damaging	Het
Spata20	C	T	11: 94,485,222	R22H	probably benign	Het
Spsb2	A	C	6: 124,810,392	Y263S	probably damaging	Het
Sptbn4	C	A	7: 27,408,328	E885*	probably null	Het
Syne2	T	C	12: 75,929,301	I1175T	probably benign	Het
Tmem2	C	T	19: 21,811,903	A567V	probably benign	Het
Tmem209	A	C	6: 30,501,914	H253Q	probably damaging	Het
Trip12	A	T	1: 84,724,747	D788E	probably damaging	Het
Usp34	T	C	11: 23,403,848	S1509P	probably damaging	Het
Utp20	A	T	10: 88,748,311	D2661E	probably damaging	Het
Vars	C	A	17: 35,004,984	P264Q	possibly damaging	Het
Vmn2r66	T	G	7: 84,994,764	S813R	probably damaging	Het
Wipf2	C	A	11: 98,892,089	Q114K	possibly damaging	Het
Wnt5b	G	T	6: 119,433,818	H220Q	probably damaging	Het
Xirp2	A	G	2: 67,516,351	T2979A	probably benign	Het
Zfyve9	A	G	4: 108,674,511	V408A	probably damaging	Het
Zzef1	T	C	11: 72,917,730	S2744P	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
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
R7191:Mpzl3	UTSW	9	45055244	start codon destroyed	probably null	0.06
R7561:Mpzl3	UTSW	9	45055312	missense	probably benign
R7570:Mpzl3	UTSW	9	45070687	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AGTCTTTCCAGTACCCGACCACAG -3'
(R):5'- ATGCAGGATTGCCCAACATCCC -3'

Sequencing Primer
(F):5'- CCACAGCGGGCACATTC -3'
(R):5'- acctccacacacacacac -3'

Posted On

2013-06-11