Mutagenetix > Incidental Mutation

Incidental Mutation 'R4972:Mpzl3'

384528

Institutional Source

Beutler Lab

Gene Symbol

Mpzl3

Ensembl Gene

ENSMUSG00000070305

Gene Name

myelin protein zero-like 3

Synonyms

A530065I17Rik, 5430427F17Rik, rc

MMRRC Submission

042567-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.054) question?

Stock #

R4972 (G1)

Quality Score

151

Status

Validated

Chromosome

Chromosomal Location

45055186-45077436 bp(+) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

T to A at 45062256 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000110312 (fasta)

Gene Model

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

AlphaFold

Q3V3F6

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

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.2%

Validation Efficiency

93% (82/88)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	T	14: 32,661,404	I868N	possibly damaging	Het
A730013G03Rik	C	G	1: 192,833,773		noncoding transcript	Het
Actl11	A	G	9: 107,929,956	T493A	probably benign	Het
Actn1	T	C	12: 80,173,039	D686G	probably benign	Het
Adamts1	G	A	16: 85,795,945	T525I	probably damaging	Het
Adcy10	T	A	1: 165,556,862	L1064H	probably damaging	Het
AI661453	A	T	17: 47,466,399		probably benign	Het
Apba1	T	A	19: 23,912,536	S433T	probably benign	Het
Arid4b	T	A	13: 14,160,272	N355K	probably benign	Het
Bsn	A	T	9: 108,115,178	M1125K	probably damaging	Het
C2cd5	A	T	6: 143,013,224	M1003K	probably damaging	Het
Ccdc18	A	G	5: 108,192,003	M805V	probably benign	Het
Cep89	T	G	7: 35,432,552	L637R	probably damaging	Het
Col24a1	A	T	3: 145,509,684	I1444F	probably benign	Het
Commd4	A	T	9: 57,155,448	S175T	probably benign	Het
Coq7	A	G	7: 118,510,117	V236A	unknown	Het
Dctn2	C	T	10: 127,276,703	R176C	probably damaging	Het
Ddx31	T	C	2: 28,860,770	F389L	probably damaging	Het
Dgkz	C	T	2: 91,945,702	R72H	probably benign	Het
Dpysl4	A	G	7: 139,090,290	D24G	probably damaging	Het
Dydc1	A	G	14: 41,082,338	T106A	probably benign	Het
F13b	A	G	1: 139,510,923	Y355C	probably damaging	Het
Fcrl5	A	G	3: 87,454,650	M407V	probably benign	Het
Fzd5	C	A	1: 64,736,012	V197L	probably benign	Het
Galnt16	G	T	12: 80,572,329	E70*	probably null	Het
Gm8979	T	C	7: 106,083,314		noncoding transcript	Het
Gpr171	A	T	3: 59,097,965	F130I	probably damaging	Het
Grin3a	T	C	4: 49,770,484	N763D	probably damaging	Het
Gsta2	A	T	9: 78,337,679	M51K	probably damaging	Het
Hacd3	A	T	9: 64,990,436	I298N	probably damaging	Het
Il18r1	C	T	1: 40,491,064	P317L	probably benign	Het
Iscu	T	A	5: 113,776,976		probably benign	Het
Kif6	A	G	17: 49,707,619	D250G	probably damaging	Het
Klk14	G	A	7: 43,692,077	C51Y	probably damaging	Het
Lcn6	T	A	2: 25,680,067	C82S	probably damaging	Het
Mob4	C	G	1: 55,151,002	L135V	possibly damaging	Het
Mvp	T	C	7: 126,989,798	D599G	probably damaging	Het
Myo1a	T	C	10: 127,716,309	Y766H	probably benign	Het
Myo5b	A	G	18: 74,627,193	H260R	probably damaging	Het
Nbea	C	T	3: 56,085,246	R313H	probably damaging	Het
Necab1	T	A	4: 14,978,216	D211V	probably damaging	Het
Nefl	G	T	14: 68,086,763		probably benign	Het
Nfx1	T	A	4: 40,976,375	D16E	probably benign	Het
Nlrp9a	G	T	7: 26,570,539	C797F	probably damaging	Het
Olfr1280	T	A	2: 111,315,818	V113E	probably damaging	Het
Olfr467	A	G	7: 107,814,746	Q56R	probably benign	Het
Pde6b	A	G	5: 108,425,264	D500G	probably benign	Het
Pgs1	T	C	11: 118,005,893		probably null	Het
Polr3b	T	A	10: 84,638,124	I189N	probably damaging	Het
Ppwd1	A	T	13: 104,220,108	S300T	probably benign	Het
Prl2c2	A	C	13: 13,002,170	N55K	possibly damaging	Het
Prpf19	C	T	19: 10,899,345		probably benign	Het
Prph2	G	T	17: 46,910,807	L37F	possibly damaging	Het
Ptprg	G	T	14: 12,226,427	R565L	possibly damaging	Het
Rab8a	C	T	8: 72,171,275	T74M	probably damaging	Het
Rexo1	A	T	10: 80,549,693	F510L	probably damaging	Het
Rexo2	G	T	9: 48,479,389	T51K	probably damaging	Het
Sh3d21	T	C	4: 126,152,416	K147R	possibly damaging	Het
Skint6	A	G	4: 112,835,068	I1062T	probably benign	Het
Spag16	C	T	1: 70,724,928	R636W	probably damaging	Het
Spata16	T	C	3: 26,840,723	I307T	possibly damaging	Het
Speer4f2	T	G	5: 17,374,425	I74S	probably benign	Het
Svep1	T	A	4: 58,087,778	Y1767F	possibly damaging	Het
Swt1	T	C	1: 151,423,542	S7G	probably benign	Het
Tex9	A	G	9: 72,478,338		probably null	Het
Thsd7b	C	A	1: 130,188,572	P1354H	probably damaging	Het
Ticrr	A	G	7: 79,669,668	D467G	probably damaging	Het
Tmco5b	A	C	2: 113,296,993	D303A	probably damaging	Het
Trpm7	A	G	2: 126,824,058	V876A	probably damaging	Het
Ttc21a	G	A	9: 119,944,961	E245K	probably benign	Het
Vezt	C	T	10: 94,000,350		probably null	Het
Zscan20	G	A	4: 128,592,359	P183S	probably benign	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
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
R9057:Mpzl3	UTSW	9	45068294	missense	probably damaging	1.00
R9101:Mpzl3	UTSW	9	45070685	missense	possibly damaging	0.65
R9400:Mpzl3	UTSW	9	45074779	missense	possibly damaging	0.59
R9579:Mpzl3	UTSW	9	45062052	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- CATTAGGTGCGCGTATCGTC -3'
(R):5'- CAACTGTTGACTTCCTCCATGG -3'

Sequencing Primer
(F):5'- AGATAAGTGCCGATGCTCACGTC -3'
(R):5'- CATGGCTCTCAGGGATAGAACC -3'

Posted On

2016-04-27