Mutagenetix > Incidental Mutation

Incidental Mutation 'R8217:Mtmr12'

636436

Institutional Source

Beutler Lab

Gene Symbol

Mtmr12

Ensembl Gene

ENSMUSG00000039458

Gene Name

myotubularin related protein 12

Synonyms

Pip3ap, C730015A02Rik

MMRRC Submission

067658-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8217 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

12205056-12272326 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 12259726 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 365 (I365T)

Ref Sequence

ENSEMBL: ENSMUSP00000041227 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038172] [ENSMUST00000071993] [ENSMUST00000174160] [ENSMUST00000174418]

AlphaFold

Q80TA6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000038172
AA Change: I365T

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000041227
Gene: ENSMUSG00000039458
AA Change: I365T

Domain	Start	End	E-Value	Type
low complexity region	3	12	N/A	INTRINSIC
low complexity region	33	42	N/A	INTRINSIC
Pfam:Myotub-related	182	501	7.6e-55	PFAM
Pfam:3-PAP	559	687	3.2e-42	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000071993
AA Change: I55T

PolyPhen 2 Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000071883
Gene: ENSMUSG00000039458
AA Change: I55T

Domain	Start	End	E-Value	Type
low complexity region	3	12	N/A	INTRINSIC
Pfam:Myotub-related	17	193	7.8e-53	PFAM
Pfam:3-PAP	249	380	8.8e-40	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000174160
AA Change: I365T

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000134293
Gene: ENSMUSG00000039458
AA Change: I365T

Domain	Start	End	E-Value	Type
low complexity region	3	12	N/A	INTRINSIC
low complexity region	33	42	N/A	INTRINSIC
Pfam:Myotub-related	182	501	3.2e-55	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000174418

SMART Domains

Protein: ENSMUSP00000133285
Gene: ENSMUSG00000039458

Domain	Start	End	E-Value	Type
low complexity region	3	12	N/A	INTRINSIC
low complexity region	33	42	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.6%

Validation Efficiency

98% (48/49)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Phosphatidylinositide 3-kinase-derived membrane-anchored phosphatidylinositides, such as phosphatidylinositol 3-phosphate (PtdIns(3)P), regulate diverse cellular processes. The protein encoded by this gene functions as an adaptor subunit in a complex with an active PtdIns(3)P 3-phosphatase. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2014]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acrbp	T	C	6: 125,037,921 (GRCm39)	L406P	probably damaging	Het
Aph1b	T	C	9: 66,686,554 (GRCm39)	K239E	possibly damaging	Het
Atp13a4	C	A	16: 29,222,619 (GRCm39)	V1102F		Het
B3gat1	G	A	9: 26,668,165 (GRCm39)	A265T	probably damaging	Het
Bod1l	T	C	5: 41,988,850 (GRCm39)	E419G	probably damaging	Het
Ccdc142	T	C	6: 83,080,197 (GRCm39)	L380P	probably damaging	Het
Cd55b	CTTTT	CTTTTT	1: 130,347,337 (GRCm39)		probably null	Het
Cfi	A	C	3: 129,648,650 (GRCm39)	N178T	possibly damaging	Het
Col5a1	T	A	2: 27,812,135 (GRCm39)	D72E	unknown	Het
Cspg4	T	A	9: 56,797,637 (GRCm39)	V1367D	possibly damaging	Het
D5Ertd579e	A	C	5: 36,771,402 (GRCm39)	S998A	probably benign	Het
Ehf	T	C	2: 103,109,976 (GRCm39)	E77G	possibly damaging	Het
Erap1	T	C	13: 74,820,937 (GRCm39)	I662T	probably benign	Het
F11r	GGTGTG	GGTGTGTG	1: 171,290,656 (GRCm39)		probably null	Het
Flvcr2	GTAGTGTATA	GTA	12: 85,849,922 (GRCm39)		probably null	Het
Klhl8	A	G	5: 104,015,466 (GRCm39)	V486A	possibly damaging	Het
Lrrc72	A	T	12: 36,258,676 (GRCm39)	D60E	probably damaging	Het
Marchf5	C	T	19: 37,185,210 (GRCm39)		probably benign	Het
Myl10	G	C	5: 136,726,825 (GRCm39)	V70L	probably benign	Het
Nod2	A	C	8: 89,390,785 (GRCm39)	D364A	probably benign	Het
Numa1	T	A	7: 101,641,876 (GRCm39)	M108K	possibly damaging	Het
Nutm2	G	T	13: 50,623,759 (GRCm39)	R152L	probably benign	Het
Or14c43	A	G	7: 86,115,390 (GRCm39)	Y257C	probably damaging	Het
Or2t46	A	T	11: 58,471,792 (GRCm39)	M41L	probably benign	Het
Or8k17	C	T	2: 86,066,862 (GRCm39)	V106M	probably benign	Het
Pak1ip1	T	A	13: 41,166,126 (GRCm39)	S350R	probably benign	Het
Pcdha3	T	C	18: 37,079,974 (GRCm39)	F239L	probably damaging	Het
Perm1	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	4: 156,302,525 (GRCm39)		probably benign	Het
Pkm	C	T	9: 59,586,092 (GRCm39)	T524I	possibly damaging	Het
Plekhg2	T	A	7: 28,067,717 (GRCm39)	Q245L	probably null	Het
Pola2	T	A	19: 6,013,855 (GRCm39)	K26N	possibly damaging	Het
Prune2	G	T	19: 17,097,480 (GRCm39)	A995S	probably benign	Het
Rap2b	C	A	3: 61,272,551 (GRCm39)	T25K	possibly damaging	Het
Scrib	A	G	15: 75,939,004 (GRCm39)	S165P	probably damaging	Het
Sdk1	A	T	5: 142,197,713 (GRCm39)	H2122L	possibly damaging	Het
Sec24b	A	T	3: 129,834,599 (GRCm39)	F200I	possibly damaging	Het
Sh3rf1	T	C	8: 61,782,964 (GRCm39)	V226A	possibly damaging	Het
Sik1	T	A	17: 32,070,286 (GRCm39)	H141L	probably damaging	Het
Slc9a5	A	T	8: 106,089,956 (GRCm39)	E638V	probably damaging	Het
Slco1a5	A	G	6: 142,221,202 (GRCm39)	C15R	probably benign	Het
Slit1	C	T	19: 41,612,959 (GRCm39)	D854N	possibly damaging	Het
Tcof1	G	C	18: 60,962,123 (GRCm39)	A702G	possibly damaging	Het
Tec	A	T	5: 72,921,602 (GRCm39)	M372K	probably benign	Het
Tlr2	A	G	3: 83,745,373 (GRCm39)	F237L	probably benign	Het
Trio	A	T	15: 27,819,055 (GRCm39)	L1597Q	probably damaging	Het
Trpa1	A	T	1: 14,957,247 (GRCm39)	M723K	probably damaging	Het
Ttc21a	T	C	9: 119,783,694 (GRCm39)	I592T	probably benign	Het
Vmn2r94	T	C	17: 18,463,986 (GRCm39)	E768G	probably damaging	Het
Zfhx3	A	G	8: 109,677,349 (GRCm39)	T2800A	probably benign	Het
Zpld1	A	G	16: 55,047,295 (GRCm39)		probably null	Het

Other mutations in Mtmr12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01801:Mtmr12	APN	15	12,270,045 (GRCm39)	missense	probably damaging	1.00
IGL02158:Mtmr12	APN	15	12,238,016 (GRCm39)	missense	probably damaging	1.00
pius	UTSW	15	12,245,097 (GRCm39)	missense	probably damaging	1.00
R0281:Mtmr12	UTSW	15	12,257,792 (GRCm39)	nonsense	probably null
R1739:Mtmr12	UTSW	15	12,245,105 (GRCm39)	missense	probably benign	0.06
R1876:Mtmr12	UTSW	15	12,257,716 (GRCm39)	missense	probably damaging	1.00
R2284:Mtmr12	UTSW	15	12,245,097 (GRCm39)	missense	probably damaging	1.00
R4301:Mtmr12	UTSW	15	12,236,106 (GRCm39)	missense	possibly damaging	0.95
R4424:Mtmr12	UTSW	15	12,230,400 (GRCm39)	missense	probably damaging	0.98
R4617:Mtmr12	UTSW	15	12,270,132 (GRCm39)	missense	probably damaging	1.00
R5418:Mtmr12	UTSW	15	12,270,045 (GRCm39)	missense	probably damaging	1.00
R6316:Mtmr12	UTSW	15	12,236,199 (GRCm39)	missense	probably null	0.31
R6857:Mtmr12	UTSW	15	12,263,918 (GRCm39)	missense	probably damaging	1.00
R7068:Mtmr12	UTSW	15	12,257,756 (GRCm39)	missense	probably null	0.08
R7511:Mtmr12	UTSW	15	12,265,681 (GRCm39)	missense	possibly damaging	0.94
R7515:Mtmr12	UTSW	15	12,270,037 (GRCm39)	missense	probably damaging	1.00
R7607:Mtmr12	UTSW	15	12,257,794 (GRCm39)	nonsense	probably null
R7709:Mtmr12	UTSW	15	12,245,097 (GRCm39)	missense	probably damaging	1.00
R8257:Mtmr12	UTSW	15	12,259,684 (GRCm39)	missense	possibly damaging	0.89
R8398:Mtmr12	UTSW	15	12,265,695 (GRCm39)	missense	probably damaging	1.00
R8778:Mtmr12	UTSW	15	12,270,006 (GRCm39)	missense	probably benign	0.00
RF013:Mtmr12	UTSW	15	12,261,984 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- CTGGCATTCTAGACCTCTAACCAAAG -3'
(R):5'- AATTCCTCTATTGGAGACCCCG -3'

Sequencing Primer
(F):5'- CCAAAGCATGGGTTACACATG -3'
(R):5'- TATTGGAGACCCCGTACTCAG -3'

Posted On

2020-07-13