Mutagenetix > Incidental Mutation

Incidental Mutation 'R0370:Mtmr1'

65602

Institutional Source

Beutler Lab

Gene Symbol

Mtmr1

Ensembl Gene

ENSMUSG00000015214

Gene Name

myotubularin related protein 1

Synonyms

MMRRC Submission

038576-MU

Accession Numbers

Essential gene?

Not available question?

Stock #

R0370 (G1)

Quality Score

Status

Not validated

Chromosome

Chromosomal Location

70408366-70462802 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 70431837 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 125 (V125I)

Ref Sequence

ENSEMBL: ENSMUSP00000117342 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000015358] [ENSMUST00000114601] [ENSMUST00000130909] [ENSMUST00000146213] [ENSMUST00000149323] [ENSMUST00000156756]

AlphaFold

Q9Z2C4

Predicted Effect

probably benign
Transcript: ENSMUST00000015358
AA Change: V117I

PolyPhen 2 Score 0.266 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000015358
Gene: ENSMUSG00000015214
AA Change: V117I

Domain	Start	End	E-Value	Type
low complexity region	6	29	N/A	INTRINSIC
low complexity region	36	43	N/A	INTRINSIC
GRAM	97	165	2.78e-12	SMART
Pfam:Myotub-related	216	556	6.9e-149	PFAM
low complexity region	649	661	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000114601
AA Change: V117I

PolyPhen 2 Score 0.172 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000110248
Gene: ENSMUSG00000015214
AA Change: V117I

Domain	Start	End	E-Value	Type
low complexity region	6	29	N/A	INTRINSIC
low complexity region	36	43	N/A	INTRINSIC
GRAM	97	165	2.78e-12	SMART
Pfam:Myotub-related	217	554	9.9e-147	PFAM
low complexity region	651	663	N/A	INTRINSIC

Predicted Effect

silent
Transcript: ENSMUST00000130909

SMART Domains

Protein: ENSMUSP00000121342
Gene: ENSMUSG00000015214

Domain	Start	End	E-Value	Type
GRAM	74	142	2.78e-12	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000132837
AA Change: V126I

SMART Domains

Protein: ENSMUSP00000121165
Gene: ENSMUSG00000015214
AA Change: V126I

Domain	Start	End	E-Value	Type
low complexity region	2	22	N/A	INTRINSIC
low complexity region	29	36	N/A	INTRINSIC
GRAM	107	175	2.78e-12	SMART
Pfam:Myotub-related	227	309	3.9e-27	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138565

Predicted Effect

probably damaging
Transcript: ENSMUST00000146213
AA Change: V125I

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

SMART Domains

Protein: ENSMUSP00000117342
Gene: ENSMUSG00000015214
AA Change: V125I

Domain	Start	End	E-Value	Type
low complexity region	6	29	N/A	INTRINSIC
low complexity region	36	43	N/A	INTRINSIC
GRAM	105	173	2.78e-12	SMART

Predicted Effect

silent
Transcript: ENSMUST00000149323

SMART Domains

Protein: ENSMUSP00000123363
Gene: ENSMUSG00000015214

Domain	Start	End	E-Value	Type
GRAM	57	125	2.78e-12	SMART

Predicted Effect

silent
Transcript: ENSMUST00000156756

SMART Domains

Protein: ENSMUSP00000115458
Gene: ENSMUSG00000015214

Domain	Start	End	E-Value	Type
GRAM	65	133	2.78e-12	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156307

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the myotubularin related family of proteins. Members of this family contain the consensus sequence for the active site of protein tyrosine phosphatases. Alternatively spliced variants have been described but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Female mice homozygous and male mice hemizygous for a gene disruption display normal morphology, clinical chemistry, hematology, and behavior. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afg3l1	T	C	8: 124,228,293 (GRCm39)	S666P	probably damaging	Het
B3gntl1	A	T	11: 121,514,980 (GRCm39)	W263R	probably damaging	Het
Carmil3	A	G	14: 55,732,899 (GRCm39)	N270S	possibly damaging	Het
Ctdp1	T	C	18: 80,492,569 (GRCm39)	E642G	probably damaging	Het
Cyp2b9	A	T	7: 25,909,531 (GRCm39)	K433M	probably damaging	Het
Dcc	A	G	18: 71,721,056 (GRCm39)	V435A	possibly damaging	Het
Defa26	A	T	8: 22,108,875 (GRCm39)	M87L	probably benign	Het
Dnah11	T	A	12: 117,958,962 (GRCm39)	I2974L	probably benign	Het
Dnah3	T	C	7: 119,685,943 (GRCm39)	D131G	possibly damaging	Het
Dock6	A	T	9: 21,725,861 (GRCm39)	S1447R	probably benign	Het
Dtl	G	T	1: 191,307,462 (GRCm39)	N17K	probably benign	Het
Grid2	A	G	6: 64,322,718 (GRCm39)	I573V	possibly damaging	Het
Hoxa9	T	C	6: 52,202,684 (GRCm39)	E134G	possibly damaging	Het
Kcnn3	A	T	3: 89,574,399 (GRCm39)	N637I	probably damaging	Het
Ktn1	T	C	14: 47,901,532 (GRCm39)	F97L	probably benign	Het
Lmbrd2	T	C	15: 9,165,939 (GRCm39)	I271T	probably damaging	Het
Lrp6	A	C	6: 134,456,729 (GRCm39)	I845S	probably damaging	Het
Med13l	T	A	5: 118,879,891 (GRCm39)	N994K	probably benign	Het
Mrrf	A	T	2: 36,067,125 (GRCm39)		probably null	Het
Nol8	C	T	13: 49,815,923 (GRCm39)	A677V	possibly damaging	Het
Or13g1	T	A	7: 85,956,057 (GRCm39)	N88I	probably benign	Het
Or51k1	T	G	7: 103,661,266 (GRCm39)	L214F	probably damaging	Het
Or8k3	A	T	2: 86,059,057 (GRCm39)	V86D	probably damaging	Het
Paxip1	C	A	5: 27,965,084 (GRCm39)	V659F	probably damaging	Het
Pclo	T	C	5: 14,571,104 (GRCm39)	V163A	probably damaging	Het
Pkn3	T	A	2: 29,977,184 (GRCm39)	H641Q	probably damaging	Het
Plekhg6	G	A	6: 125,347,623 (GRCm39)	R444C	probably damaging	Het
Rfx2	T	C	17: 57,106,308 (GRCm39)	E175G	probably benign	Het
Samd9l	A	C	6: 3,377,264 (GRCm39)		probably benign	Het
Sec14l5	A	T	16: 4,998,570 (GRCm39)	T537S	probably damaging	Het
Serpinb9d	A	G	13: 33,379,949 (GRCm39)	E96G	probably damaging	Het
Setd4	T	C	16: 93,388,006 (GRCm39)	E160G	probably damaging	Het
Sf3b2	C	T	19: 5,324,852 (GRCm39)	D845N	probably damaging	Het
Slc16a4	A	G	3: 107,208,413 (GRCm39)	I308V	possibly damaging	Het
Slco2b1	T	A	7: 99,339,644 (GRCm39)	N100Y	probably damaging	Het
Sptbn1	A	T	11: 30,071,545 (GRCm39)	S1475R	probably benign	Het
Tecta	T	C	9: 42,278,100 (GRCm39)	D1136G	probably benign	Het
Tmem94	G	C	11: 115,679,543 (GRCm39)	R273S	probably damaging	Het
Tns3	A	G	11: 8,395,730 (GRCm39)	S1225P	possibly damaging	Het
Ugt2b36	A	G	5: 87,239,834 (GRCm39)	Y184H	probably benign	Het
Vmn2r59	A	T	7: 41,662,150 (GRCm39)	M555K	probably benign	Het

Other mutations in Mtmr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02211:Mtmr1	APN	X	70,455,863 (GRCm39)	missense	possibly damaging	0.55
IGL02647:Mtmr1	APN	X	70,436,939 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTGTGCCAGTTTGCTTCAACTGC -3'
(R):5'- GAGGTCTATACCCAAACCACAGTGC -3'

Sequencing Primer
(F):5'- GATAATAGCCCAGTGCCTTCTGAG -3'
(R):5'- CAAATTCACTGTCCTGTAGTGTC -3'

Posted On

2013-08-08