Mutagenetix > Incidental Mutation

Incidental Mutation 'R0196:Mpzl3'

23443

Institutional Source

Beutler Lab

Gene Symbol

Mpzl3

Ensembl Gene

ENSMUSG00000070305

Gene Name

myelin protein zero-like 3

Synonyms

rc, 5430427F17Rik, ruf, A530065I17Rik

MMRRC Submission

038455-MU

Accession Numbers

Essential gene?

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

Stock #

R0196 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

44966484-44988734 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 44973458 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 66 (T66A)

Ref Sequence

ENSEMBL: ENSMUSP00000110311 (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 damaging
Transcript: ENSMUST00000114663
AA Change: T66A

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000110311
Gene: ENSMUSG00000070305
AA Change: T66A

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
AA Change: T66A

PolyPhen 2 Score 0.272 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000110312
Gene: ENSMUSG00000070305
AA Change: T66A

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: 98.8%
3x: 97.7%
10x: 93.8%
20x: 81.8%

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933409G03Rik	A	G	2: 68,446,591 (GRCm39)		probably benign	Het
Aass	G	A	6: 23,109,519 (GRCm39)	P317L	probably damaging	Het
Abca12	T	A	1: 71,298,972 (GRCm39)	N2313I	possibly damaging	Het
Adamts12	T	C	15: 11,071,594 (GRCm39)	I46T	probably benign	Het
Adipoq	T	G	16: 22,965,393 (GRCm39)		probably null	Het
Amy1	A	T	3: 113,363,070 (GRCm39)	D92E	probably benign	Het
Asb15	G	A	6: 24,564,392 (GRCm39)	R282Q	probably damaging	Het
Bag6	G	C	17: 35,363,239 (GRCm39)	G693A	probably damaging	Het
Birc6	T	C	17: 74,887,282 (GRCm39)	I870T	possibly damaging	Het
Cand2	A	G	6: 115,766,463 (GRCm39)	K356R	probably damaging	Het
Cbfa2t3	T	C	8: 123,360,076 (GRCm39)	Q525R	possibly damaging	Het
Cd4	T	C	6: 124,844,769 (GRCm39)	R339G	probably damaging	Het
Cdh8	A	G	8: 99,917,066 (GRCm39)	S350P	probably damaging	Het
Cep295	A	T	9: 15,249,509 (GRCm39)	S469T	probably damaging	Het
Ckap2l	A	T	2: 129,127,342 (GRCm39)	S279T	probably benign	Het
Clnk	T	A	5: 38,927,282 (GRCm39)	N66Y	probably damaging	Het
Col27a1	A	T	4: 63,142,503 (GRCm39)	T64S	probably benign	Het
Crtc1	T	C	8: 70,838,871 (GRCm39)	D599G	probably damaging	Het
Cyp2c23	A	C	19: 44,000,795 (GRCm39)	I363S	probably damaging	Het
Dnah10	A	T	5: 124,911,139 (GRCm39)	I4519F	possibly damaging	Het
Dner	T	A	1: 84,348,553 (GRCm39)	I716F	probably damaging	Het
Dsel	T	G	1: 111,789,333 (GRCm39)	T401P	possibly damaging	Het
Egfr	A	G	11: 16,861,746 (GRCm39)	D1175G	probably benign	Het
Ephb3	A	T	16: 21,036,804 (GRCm39)	N343I	probably damaging	Het
Fbxw10	T	A	11: 62,768,070 (GRCm39)	F974I	probably benign	Het
Gfi1b	T	C	2: 28,503,786 (GRCm39)	Y138C	probably damaging	Het
Gm11168	T	A	9: 3,005,175 (GRCm39)	L6H	probably benign	Het
Grb10	A	C	11: 11,895,583 (GRCm39)	V247G	probably damaging	Het
Gstp2	A	T	19: 4,090,514 (GRCm39)		probably null	Het
Hars2	C	T	18: 36,922,257 (GRCm39)	Q291*	probably null	Het
Hyal4	G	T	6: 24,756,220 (GRCm39)	W146L	probably damaging	Het
Il22ra1	C	T	4: 135,461,556 (GRCm39)	T107I	possibly damaging	Het
Itga8	A	G	2: 12,209,540 (GRCm39)		probably null	Het
Klhl25	T	C	7: 75,515,450 (GRCm39)	S119P	probably damaging	Het
Krt81	C	A	15: 101,361,508 (GRCm39)	R24L	possibly damaging	Het
Lrrc8c	T	C	5: 105,754,636 (GRCm39)	V137A	probably benign	Het
Macrod2	A	T	2: 142,018,545 (GRCm39)	E226V	probably damaging	Het
Mcemp1	A	T	8: 3,718,201 (GRCm39)	Q165L	probably benign	Het
Mcpt9	T	A	14: 56,265,453 (GRCm39)	K82M	probably benign	Het
Msh6	G	A	17: 88,287,788 (GRCm39)	V143I	possibly damaging	Het
Mug1	G	A	6: 121,815,684 (GRCm39)		probably null	Het
Ncr1	G	T	7: 4,343,972 (GRCm39)	C153F	probably damaging	Het
Nf1	T	A	11: 79,359,595 (GRCm39)	M1411K	possibly damaging	Het
Nf1	T	A	11: 79,469,098 (GRCm39)	V786D	probably damaging	Het
Nisch	T	C	14: 30,925,351 (GRCm39)		probably benign	Het
Nwd2	T	A	5: 63,963,694 (GRCm39)	Y1093N	probably benign	Het
Oas3	G	A	5: 120,894,210 (GRCm39)	R39C	probably damaging	Het
Or1e32	A	T	11: 73,705,731 (GRCm39)	M59K	probably damaging	Het
Or7a36	C	T	10: 78,820,023 (GRCm39)	T133I	possibly damaging	Het
Oxa1l	T	C	14: 54,600,944 (GRCm39)	I139T	probably damaging	Het
P3h3	T	A	6: 124,822,235 (GRCm39)	N583Y	probably damaging	Het
Pcdh18	A	T	3: 49,711,147 (GRCm39)		probably null	Het
Pcnp	C	T	16: 55,844,896 (GRCm39)		probably benign	Het
Pdzd8	G	T	19: 59,289,563 (GRCm39)	D612E	probably benign	Het
Pi4kb	T	C	3: 94,906,261 (GRCm39)	S8P	probably damaging	Het
Pikfyve	T	G	1: 65,295,231 (GRCm39)	V1454G	possibly damaging	Het
Podn	T	C	4: 107,878,695 (GRCm39)	N246D	probably damaging	Het
Prg4	T	C	1: 150,330,243 (GRCm39)		probably benign	Het
R3hdm2	T	C	10: 127,320,390 (GRCm39)	Y523H	probably damaging	Het
Rpf1	T	A	3: 146,213,904 (GRCm39)	E231V	possibly damaging	Het
Slc16a10	C	T	10: 39,932,611 (GRCm39)	E317K	probably benign	Het
Slc34a1	A	T	13: 55,560,078 (GRCm39)	I435F	probably damaging	Het
Snx19	A	G	9: 30,344,683 (GRCm39)	D629G	probably damaging	Het
Tomm70a	T	C	16: 56,966,463 (GRCm39)	I472T	probably benign	Het
Trp53	A	G	11: 69,479,506 (GRCm39)	Y202C	probably damaging	Het
Ttc14	T	A	3: 33,863,403 (GRCm39)		probably benign	Het
Ugt1a1	C	T	1: 88,140,277 (GRCm39)	A185V	possibly damaging	Het
Usp28	A	G	9: 48,939,578 (GRCm39)	D655G	probably damaging	Het
Vmn1r215	C	T	13: 23,260,254 (GRCm39)	T98I	probably damaging	Het
Vmn2r121	G	T	X: 123,041,879 (GRCm39)	T426N	probably benign	Het
Vmn2r99	A	G	17: 19,614,835 (GRCm39)	N852D	probably benign	Het
Xrn2	T	A	2: 146,889,580 (GRCm39)	D654E	probably damaging	Het
Yju2	C	A	17: 56,271,653 (GRCm39)	D191E	probably damaging	Het
Zfp335	C	G	2: 164,738,065 (GRCm39)	A849P	possibly damaging	Het
Zfp954	C	T	7: 7,118,390 (GRCm39)	V385M	probably damaging	Het
Zmynd15	A	G	11: 70,355,052 (GRCm39)	T350A	probably damaging	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
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
R5371:Mpzl3	UTSW	9	44,966,510 (GRCm39)	utr 5 prime	probably benign
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'- ACAAGCCTGTGATTGGCAAAATGC -3'
(R):5'- TTGCACAGCAGGTGACTTTACCCC -3'

Sequencing Primer
(F):5'- CACTGAAAATGGTGTGAAGCATCTC -3'
(R):5'- tgtagatcatgctgatttcaaacc -3'

Posted On

2013-04-16