Mutagenetix > Incidental Mutation

Incidental Mutation 'R4617:Mtmr12'

351130

Institutional Source

Beutler Lab

Gene Symbol

Mtmr12

Ensembl Gene

ENSMUSG00000039458

Gene Name

myotubularin related protein 12

Synonyms

Pip3ap, C730015A02Rik

MMRRC Submission

041828-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4617 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

12205056-12272326 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 12270132 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 430 (E430G)

Ref Sequence

ENSEMBL: ENSMUSP00000071883 (fasta)

Gene Model

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

AlphaFold

Q80TA6

Predicted Effect

probably damaging
Transcript: ENSMUST00000038172
AA Change: E740G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000041227
Gene: ENSMUSG00000039458
AA Change: E740G

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

probably damaging
Transcript: ENSMUST00000071993
AA Change: E430G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000071883
Gene: ENSMUSG00000039458
AA Change: E430G

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

probably benign
Transcript: ENSMUST00000174160

SMART Domains

Protein: ENSMUSP00000134293
Gene: ENSMUSG00000039458

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

Meta Mutation Damage Score

0.1233

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

96% (66/69)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	C	1: 71,369,493 (GRCm39)	I363V	probably benign	Het
Acaa1a	T	A	9: 119,178,006 (GRCm39)	S279R	probably damaging	Het
Akr1cl	A	G	1: 65,060,550 (GRCm39)	C156R	probably damaging	Het
Arhgap11a	G	A	2: 113,664,423 (GRCm39)	T620M	probably benign	Het
Brinp1	A	G	4: 68,681,198 (GRCm39)	I444T	possibly damaging	Het
Ccdc150	A	G	1: 54,394,913 (GRCm39)	I760V	probably benign	Het
Cdh26	G	A	2: 178,102,435 (GRCm39)		probably benign	Het
Cpd	A	G	11: 76,731,441 (GRCm39)	L255P	probably damaging	Het
Cyfip2	A	G	11: 46,144,845 (GRCm39)	Y670H	probably damaging	Het
Disp2	G	A	2: 118,620,643 (GRCm39)	M458I	probably benign	Het
Dot1l	T	C	10: 80,620,918 (GRCm39)	I563T	probably damaging	Het
Egf	A	T	3: 129,484,442 (GRCm39)	S1001T	probably benign	Het
Elfn1	A	G	5: 139,957,764 (GRCm39)	Y256C	probably damaging	Het
Exoc4	C	T	6: 33,839,139 (GRCm39)	T725I	probably benign	Het
Fam168b	A	G	1: 34,859,063 (GRCm39)	V72A	possibly damaging	Het
Fbxw20	C	T	9: 109,046,631 (GRCm39)	S443N	probably damaging	Het
Flacc1	A	T	1: 58,700,601 (GRCm39)	D301E	probably benign	Het
Flrt2	T	C	12: 95,747,003 (GRCm39)	V447A	possibly damaging	Het
Gm4846	A	G	1: 166,323,550 (GRCm39)	S58P	probably damaging	Het
Gpr20	T	C	15: 73,567,585 (GRCm39)	N268S	probably benign	Het
Lpcat2b	T	C	5: 107,581,865 (GRCm39)	L398P	possibly damaging	Het
Mapk8ip3	G	A	17: 25,123,761 (GRCm39)	P587L	probably damaging	Het
Mfap4	C	A	11: 61,376,335 (GRCm39)		probably benign	Het
Mplkipl1	C	T	19: 61,164,364 (GRCm39)	G24R	unknown	Het
Mrpl38	T	C	11: 116,023,278 (GRCm39)	D325G	probably damaging	Het
Mup18	T	A	4: 61,590,154 (GRCm39)	I125F	possibly damaging	Het
Ogdhl	A	G	14: 32,047,842 (GRCm39)	R31G	probably benign	Het
Or13f5	A	T	4: 52,825,399 (GRCm39)	M1L	probably benign	Het
Pcdh1	C	A	18: 38,330,913 (GRCm39)	V697L	probably benign	Het
Pcdhga9	T	C	18: 37,871,553 (GRCm39)	Y461H	probably damaging	Het
Pdzrn4	A	G	15: 92,667,723 (GRCm39)	Y625C	probably damaging	Het
Pkd2l1	C	A	19: 44,142,573 (GRCm39)	A490S	probably damaging	Het
Poglut2	A	C	1: 44,149,180 (GRCm39)	F453V	probably damaging	Het
Ptprn	T	A	1: 75,228,931 (GRCm39)	D828V	possibly damaging	Het
Rgs12	T	A	5: 35,177,700 (GRCm39)	W97R	probably damaging	Het
Rnf10	T	A	5: 115,386,762 (GRCm39)	Q508L	probably damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Sec24b	A	T	3: 129,834,413 (GRCm39)	S126T	possibly damaging	Het
Slc6a5	A	G	7: 49,561,768 (GRCm39)	N100S	probably benign	Het
Speer1j	T	C	5: 11,553,798 (GRCm39)	S7P	probably benign	Het
Stam2	A	T	2: 52,605,716 (GRCm39)	D167E	probably benign	Het
Stambp	G	A	6: 83,538,960 (GRCm39)	Q147*	probably null	Het
Tbc1d32	A	G	10: 56,047,000 (GRCm39)	V556A	possibly damaging	Het
Tll2	T	C	19: 41,087,075 (GRCm39)	D592G	probably benign	Het
Tmem199	A	T	11: 78,400,508 (GRCm39)		probably benign	Het
Traip	T	A	9: 107,847,218 (GRCm39)	N352K	probably benign	Het
Trmt1l	C	T	1: 151,329,799 (GRCm39)	Q581*	probably null	Het
Usp54	C	A	14: 20,600,406 (GRCm39)	A1444S	probably benign	Het
Vsig1	G	T	X: 139,827,135 (GRCm39)	A95S	probably benign	Het
Xdh	G	A	17: 74,225,389 (GRCm39)	T471I	probably damaging	Het
Zdhhc19	A	G	16: 32,316,494 (GRCm39)	D83G	probably damaging	Het
Zfp352	A	G	4: 90,113,318 (GRCm39)	K486R	probably benign	Het
Zfp451	A	G	1: 33,841,752 (GRCm39)		probably benign	Het
Zfp963	A	T	8: 70,195,944 (GRCm39)	S170T	probably benign	Het
Zfp970	A	G	2: 177,167,961 (GRCm39)	I512V	probably benign	Het
Zfp990	A	G	4: 145,263,616 (GRCm39)	I205V	possibly damaging	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
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
R8217:Mtmr12	UTSW	15	12,259,726 (GRCm39)	missense	possibly damaging	0.89
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'- CACCATGGGCAAACTCTTAGAG -3'
(R):5'- TGAATGTCTTCCAGAACTGTGG -3'

Sequencing Primer
(F):5'- CCATGGGCAAACTCTTAGAGATGATG -3'
(R):5'- GAAGAAAAGGAGAACAAGCTCTCTTC -3'

Posted On

2015-10-08