Mutagenetix > Incidental Mutation

Incidental Mutation 'R5371:Mpzl3'

428735

Institutional Source

Beutler Lab

Gene Symbol

Mpzl3

Ensembl Gene

ENSMUSG00000070305

Gene Name

myelin protein zero-like 3

Synonyms

rc, 5430427F17Rik, ruf, A530065I17Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R5371 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

44966484-44988734 bp(+) (GRCm39)

Type of Mutation

utr 5 prime

DNA Base Change (assembly)

A to G at 44966510 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000110312 (fasta)

Gene Model

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

AlphaFold

Q3V3F6

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

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 benign
Transcript: ENSMUST00000114664

SMART Domains

Protein: ENSMUSP00000110312
Gene: ENSMUSG00000070305

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: ENSMUST00000187113

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214803

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.6%

Validation Efficiency

96% (71/74)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432E11Rik	G	T	7: 29,261,918 (GRCm39)		noncoding transcript	Het
Arpp21	G	A	9: 111,895,000 (GRCm39)	P755S	probably benign	Het
Aspm	C	T	1: 139,398,279 (GRCm39)	Q982*	probably null	Het
Atp5f1e	C	T	2: 174,304,319 (GRCm39)		probably benign	Het
BC024139	A	G	15: 76,004,886 (GRCm39)	*598Q	probably null	Het
Bcl6	T	A	16: 23,788,736 (GRCm39)	D544V	possibly damaging	Het
Ccdc9	A	T	7: 16,014,655 (GRCm39)	D195E	probably damaging	Het
Cd38	A	G	5: 44,026,225 (GRCm39)	N3S	probably benign	Het
Cfap46	A	T	7: 139,212,097 (GRCm39)		probably null	Het
Cmtr2	T	C	8: 110,948,044 (GRCm39)	F118S	probably damaging	Het
Cyp7a1	A	G	4: 6,268,378 (GRCm39)	F449S	probably damaging	Het
Dnah10	C	T	5: 124,820,693 (GRCm39)	A509V	probably benign	Het
Dsp	A	T	13: 38,378,865 (GRCm39)	Q1271L	probably damaging	Het
Edar	A	C	10: 58,443,274 (GRCm39)	V284G	possibly damaging	Het
Fdft1	A	G	14: 63,388,750 (GRCm39)	V294A	probably damaging	Het
Gba1	T	A	3: 89,112,778 (GRCm39)	V140E	probably benign	Het
Gm12185	A	T	11: 48,806,566 (GRCm39)	S208R	probably benign	Het
Gm21028	C	A	7: 42,227,946 (GRCm39)	E23*	probably null	Het
Gm6871	A	G	7: 41,222,992 (GRCm39)	L32P	probably benign	Het
Hhip	C	T	8: 80,724,220 (GRCm39)	V341M	probably damaging	Het
Kcnq2	C	A	2: 180,776,813 (GRCm39)	V25L	probably damaging	Het
Krit1	C	A	5: 3,881,551 (GRCm39)	H548N	probably damaging	Het
Kynu	C	T	2: 43,479,406 (GRCm39)	A100V	probably benign	Het
Lpp	T	C	16: 24,708,554 (GRCm39)	C295R	probably damaging	Het
Mdp1	A	G	14: 55,897,806 (GRCm39)	V9A	probably damaging	Het
Mllt3	T	C	4: 87,759,093 (GRCm39)	I318M	possibly damaging	Het
Mroh2a	A	G	1: 88,186,386 (GRCm39)	S64G	probably benign	Het
Mup8	A	G	4: 60,222,423 (GRCm39)	V16A	probably benign	Het
Myh13	T	A	11: 67,235,616 (GRCm39)		probably null	Het
Myh4	A	T	11: 67,150,150 (GRCm39)	Q1869L	probably damaging	Het
Nt5c	G	A	11: 115,381,643 (GRCm39)		probably null	Het
Olfr908	CACAACAACA	CACAACA	9: 38,427,434 (GRCm39)		probably benign	Het
Or13c7b	A	T	4: 43,821,058 (GRCm39)	M101K	probably damaging	Het
Or51h7	T	A	7: 102,591,719 (GRCm39)	M22L	probably benign	Het
Or5d43	C	A	2: 88,104,976 (GRCm39)	C139F	probably damaging	Het
Parp11	T	C	6: 127,447,755 (GRCm39)	F30L	probably damaging	Het
Pcdhgc3	A	T	18: 37,941,507 (GRCm39)	D636V	possibly damaging	Het
Ppp1cb	T	C	5: 32,643,332 (GRCm39)	F234L	probably damaging	Het
Rras2	A	T	7: 113,649,572 (GRCm39)	V164E	probably damaging	Het
Rsf1	GCGGCGGCG	GCGGCGGCGACGGCGGCG	7: 97,229,120 (GRCm39)		probably benign	Het
Scg3	T	C	9: 75,568,583 (GRCm39)	T390A	probably damaging	Het
Shh	C	A	5: 28,671,688 (GRCm39)	C25F	probably damaging	Het
Slc24a1	T	C	9: 64,856,550 (GRCm39)	K119R	unknown	Het
Speg	G	T	1: 75,408,037 (GRCm39)	R3244L	possibly damaging	Het
Spns1	A	G	7: 125,972,936 (GRCm39)		probably benign	Het
Sptbn4	A	C	7: 27,059,166 (GRCm39)		probably null	Het
Stap1	T	A	5: 86,244,375 (GRCm39)	F214Y	possibly damaging	Het
Tcerg1	T	A	18: 42,652,600 (GRCm39)	M76K	unknown	Het
Tjp1	A	T	7: 64,963,059 (GRCm39)	Y959*	probably null	Het
Tmprss11e	A	T	5: 86,875,225 (GRCm39)	C14S	probably benign	Het
Tnfrsf14	T	C	4: 155,006,934 (GRCm39)		probably null	Het
Tsfm	A	C	10: 126,847,512 (GRCm39)	V193G	probably benign	Het
Ube2q2l	T	A	6: 136,378,371 (GRCm39)	Y153F	probably benign	Het
Ush2a	A	T	1: 188,175,267 (GRCm39)	I1122L	probably benign	Het
Vmn1r74	T	A	7: 11,580,984 (GRCm39)	S95T	probably damaging	Het
Vmn2r98	G	A	17: 19,290,015 (GRCm39)	C517Y	probably damaging	Het
Vstm2b	G	A	7: 40,550,702 (GRCm39)	S99N	possibly damaging	Het
Zbtb24	A	G	10: 41,327,537 (GRCm39)	N141S	probably benign	Het
Zcchc4	T	G	5: 52,942,512 (GRCm39)	C106G	probably benign	Het

Other mutations in Mpzl3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02420:Mpzl3	APN	9	44,977,815 (GRCm39)	missense	possibly damaging	0.95
IGL02969:Mpzl3	APN	9	44,979,514 (GRCm39)	missense	probably benign	0.00
mausolus	UTSW	9	44,979,550 (GRCm39)	missense	probably damaging	1.00
satrap	UTSW	9	44,966,542 (GRCm39)	start codon destroyed	probably null	0.06
R0069:Mpzl3	UTSW	9	44,979,550 (GRCm39)	missense	probably damaging	1.00
R0196:Mpzl3	UTSW	9	44,973,458 (GRCm39)	missense	probably damaging	0.98
R0557:Mpzl3	UTSW	9	44,977,806 (GRCm39)	missense	probably damaging	1.00
R1511:Mpzl3	UTSW	9	44,977,827 (GRCm39)	missense	probably damaging	0.99
R4580:Mpzl3	UTSW	9	44,979,529 (GRCm39)	missense	possibly damaging	0.94
R4775:Mpzl3	UTSW	9	44,977,730 (GRCm39)	missense	probably damaging	1.00
R4825:Mpzl3	UTSW	9	44,979,627 (GRCm39)	missense	probably benign	0.00
R4972:Mpzl3	UTSW	9	44,973,554 (GRCm39)	intron	probably benign
R5189:Mpzl3	UTSW	9	44,973,408 (GRCm39)	missense	possibly damaging	0.95
R5925:Mpzl3	UTSW	9	44,973,412 (GRCm39)	missense	probably damaging	1.00
R7191:Mpzl3	UTSW	9	44,966,542 (GRCm39)	start codon destroyed	probably null	0.06
R7561:Mpzl3	UTSW	9	44,966,610 (GRCm39)	missense	probably benign
R7570:Mpzl3	UTSW	9	44,981,985 (GRCm39)	missense	probably benign
R9057:Mpzl3	UTSW	9	44,979,592 (GRCm39)	missense	probably damaging	1.00
R9101:Mpzl3	UTSW	9	44,981,983 (GRCm39)	missense	possibly damaging	0.65
R9400:Mpzl3	UTSW	9	44,986,077 (GRCm39)	missense	possibly damaging	0.59
R9579:Mpzl3	UTSW	9	44,973,350 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- AGCCTGGTTCCCTGGAATTC -3'
(R):5'- AAAAGCGACCATCTTTCCTGAC -3'

Sequencing Primer
(F):5'- TCAGTCTGTAGCCAATCTGAAGCAG -3'
(R):5'- GATGCTCAGCAGTGGAAA -3'

Posted On

2016-09-06