Mutagenetix > Incidental Mutation

Incidental Mutation 'R5097:Mpzl1'

388060

Institutional Source

Beutler Lab

Gene Symbol

Mpzl1

Ensembl Gene

ENSMUSG00000026566

Gene Name

myelin protein zero-like 1

Synonyms

1110007A10Rik

MMRRC Submission

042686-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5097 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

165419809-165462107 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 165433285 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 122 (I122T)

Ref Sequence

ENSEMBL: ENSMUSP00000141463 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068705] [ENSMUST00000111435] [ENSMUST00000191818] [ENSMUST00000193023] [ENSMUST00000193910] [ENSMUST00000194437]

AlphaFold

Q3TEW6

Predicted Effect

probably damaging
Transcript: ENSMUST00000068705
AA Change: I122T

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000070343
Gene: ENSMUSG00000026566
AA Change: I122T

Domain	Start	End	E-Value	Type
low complexity region	2	15	N/A	INTRINSIC
IGv	53	137	1.28e-10	SMART
transmembrane domain	162	191	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000111435
AA Change: I122T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000107062
Gene: ENSMUSG00000026566
AA Change: I122T

Domain	Start	End	E-Value	Type
signal peptide	1	37	N/A	INTRINSIC
IGv	53	137	1.28e-10	SMART
transmembrane domain	162	191	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000191818
AA Change: I96T

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000141361
Gene: ENSMUSG00000026566
AA Change: I96T

Domain	Start	End	E-Value	Type
IGv	27	111	5.3e-13	SMART
transmembrane domain	134	165	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192716

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192848

Predicted Effect

probably damaging
Transcript: ENSMUST00000193023
AA Change: I122T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000141463
Gene: ENSMUSG00000026566
AA Change: I122T

Domain	Start	End	E-Value	Type
signal peptide	1	37	N/A	INTRINSIC
IGv	53	137	5.3e-13	SMART
transmembrane domain	162	191	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193172

Predicted Effect

unknown
Transcript: ENSMUST00000195410
AA Change: I66T

Predicted Effect

unknown
Transcript: ENSMUST00000193948
AA Change: I27T

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194829

Predicted Effect

probably benign
Transcript: ENSMUST00000193910

Predicted Effect

probably benign
Transcript: ENSMUST00000194437

SMART Domains

Protein: ENSMUSP00000142164
Gene: ENSMUSG00000026566

Domain	Start	End	E-Value	Type
signal peptide	1	37	N/A	INTRINSIC
Blast:IGv	53	86	2e-16	BLAST

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.9%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Phenotypic analysis of mice homozygous for a gene trap allele indicates this mutation has no notable phenotype in any parameter tested. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts3	C	A	5: 89,840,909 (GRCm39)	V805F	probably damaging	Het
Adgrb3	G	A	1: 25,865,165 (GRCm39)	T226M	probably damaging	Het
Ak5	A	G	3: 152,187,270 (GRCm39)	S406P	probably damaging	Het
Akt3	C	G	1: 177,076,254 (GRCm39)	V12L	probably benign	Het
Arhgef40	A	C	14: 52,227,146 (GRCm39)	S397R	probably damaging	Het
Atp5f1c	A	G	2: 10,068,323 (GRCm39)	V144A	probably benign	Het
Ccser1	A	G	6: 61,289,144 (GRCm39)	S436G	probably benign	Het
Clgn	G	T	8: 84,137,152 (GRCm39)	V290F	possibly damaging	Het
Dis3l	T	A	9: 64,226,498 (GRCm39)	D261V	probably damaging	Het
Dnah11	T	A	12: 117,981,435 (GRCm39)	Y2577F	probably damaging	Het
Evi5l	A	G	8: 4,243,317 (GRCm39)	E371G	probably damaging	Het
Fat2	A	G	11: 55,201,530 (GRCm39)	S515P	probably damaging	Het
Fsip2	A	G	2: 82,822,329 (GRCm39)	I6021V	probably benign	Het
Ftdc1	A	C	16: 58,434,227 (GRCm39)	N163K	probably benign	Het
Gstm5	A	T	3: 107,803,258 (GRCm39)		probably benign	Het
H2-Oa	G	A	17: 34,312,809 (GRCm39)	D29N	probably damaging	Het
Igkv4-80	A	C	6: 68,993,649 (GRCm39)	S81A	probably benign	Het
Ireb2	A	G	9: 54,802,668 (GRCm39)	I434M	probably benign	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Micall1	A	G	15: 79,014,078 (GRCm39)	T658A	probably benign	Het
Mitf	C	T	6: 97,973,423 (GRCm39)	A252V	possibly damaging	Het
Mtus2	G	A	5: 148,232,392 (GRCm39)	V146I	probably damaging	Het
Myh11	C	T	16: 14,023,770 (GRCm39)		probably null	Het
Myrfl	A	G	10: 116,653,609 (GRCm39)	I486T	probably damaging	Het
N4bp2	T	C	5: 65,974,561 (GRCm39)	V1477A	probably damaging	Het
Ndc1	T	A	4: 107,231,358 (GRCm39)	S100T	probably benign	Het
Nek10	T	A	14: 14,857,851 (GRCm38)	N433K	probably benign	Het
Noc4l	C	T	5: 110,799,212 (GRCm39)	S190N	probably benign	Het
Nprl2	A	G	9: 107,420,731 (GRCm39)	E122G	probably damaging	Het
Or13a19	A	G	7: 139,903,008 (GRCm39)	Y132C	probably damaging	Het
Or1e16	G	C	11: 73,286,119 (GRCm39)	S243C	probably damaging	Het
Or6n2	C	T	1: 173,897,095 (GRCm39)	T77I	probably benign	Het
Osbpl1a	T	C	18: 12,896,594 (GRCm39)	I324V	probably damaging	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Peg3	C	T	7: 6,713,026 (GRCm39)	R732H	probably damaging	Het
Rfc4	A	G	16: 22,933,046 (GRCm39)	I297T	possibly damaging	Het
Rpl3l	T	A	17: 24,952,435 (GRCm39)	D218E	probably damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Sesn2	C	T	4: 132,224,209 (GRCm39)	V400I	probably benign	Het
Syt11	C	T	3: 88,655,231 (GRCm39)	V51I	probably benign	Het
Tas2r115	A	C	6: 132,714,216 (GRCm39)	L245R	probably damaging	Het
Tmem115	G	A	9: 107,412,059 (GRCm39)	V128I	probably benign	Het
Trim47	A	G	11: 115,997,260 (GRCm39)	V499A	probably benign	Het
Trpm7	A	T	2: 126,638,256 (GRCm39)		probably null	Het
Zfp143	A	G	7: 109,687,998 (GRCm39)	D479G	probably damaging	Het
Zfp292	T	C	4: 34,839,878 (GRCm39)	T91A	possibly damaging	Het

Other mutations in Mpzl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00951:Mpzl1	APN	1	165,433,391 (GRCm39)	missense	probably damaging	0.99
IGL01294:Mpzl1	APN	1	165,421,177 (GRCm39)	missense	probably damaging	1.00
IGL01388:Mpzl1	APN	1	165,433,336 (GRCm39)	missense	probably benign	0.44
IGL01594:Mpzl1	APN	1	165,421,161 (GRCm39)	missense	probably damaging	1.00
R0517:Mpzl1	UTSW	1	165,429,359 (GRCm39)	missense	probably damaging	0.98
R1913:Mpzl1	UTSW	1	165,429,374 (GRCm39)	missense	probably benign
R4352:Mpzl1	UTSW	1	165,433,376 (GRCm39)	nonsense	probably null
R4997:Mpzl1	UTSW	1	165,429,350 (GRCm39)	missense	probably damaging	0.98
R5733:Mpzl1	UTSW	1	165,433,180 (GRCm39)	missense	probably benign
R7084:Mpzl1	UTSW	1	165,432,267 (GRCm39)	missense	probably benign	0.00
R7480:Mpzl1	UTSW	1	165,432,257 (GRCm39)	missense	possibly damaging	0.77
R9381:Mpzl1	UTSW	1	165,429,323 (GRCm39)	missense	probably damaging	1.00
R9571:Mpzl1	UTSW	1	165,429,374 (GRCm39)	missense	probably benign	0.00
X0065:Mpzl1	UTSW	1	165,432,215 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TTCCTTCCAAATGTACCCTGAAAC -3'
(R):5'- TTACCAGACGACTAGAATCTGC -3'

Sequencing Primer
(F):5'- CCCTGAAACACAAATTTTATTCTCC -3'
(R):5'- GACGACTAGAATCTGCCTCTGAG -3'

Posted On

2016-06-06