Mutagenetix > Incidental Mutation

Incidental Mutation 'R0281:Mtmr12'

37566

Institutional Source

Beutler Lab

Gene Symbol

Mtmr12

Ensembl Gene

ENSMUSG00000039458

Gene Name

myotubularin related protein 12

Synonyms

Pip3ap, C730015A02Rik

MMRRC Submission

038503-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0281 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

12205056-12272326 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 12257792 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 290 (L290*)

Ref Sequence

ENSEMBL: ENSMUSP00000134293 (fasta)

Gene Model

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

AlphaFold

Q80TA6

Predicted Effect

probably null
Transcript: ENSMUST00000038172
AA Change: L290*

SMART Domains

Protein: ENSMUSP00000041227
Gene: ENSMUSG00000039458
AA Change: L290*

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 benign
Transcript: ENSMUST00000071993

SMART Domains

Protein: ENSMUSP00000071883
Gene: ENSMUSG00000039458

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 null
Transcript: ENSMUST00000174160
AA Change: L290*

SMART Domains

Protein: ENSMUSP00000134293
Gene: ENSMUSG00000039458
AA Change: L290*

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

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.9%

Validation Efficiency

98% (104/106)

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: 101 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933430I17Rik	A	T	4: 62,464,304 (GRCm39)	R374*	probably null	Het
5930422O12Rik	A	T	8: 33,919,407 (GRCm39)	R76*	probably null	Het
A1cf	G	A	19: 31,923,214 (GRCm39)	A505T	probably benign	Het
Abcc5	T	A	16: 20,241,150 (GRCm39)	I12F	probably damaging	Het
Abcf2	T	C	5: 24,771,562 (GRCm39)	E555G	probably damaging	Het
Acan	A	T	7: 78,750,033 (GRCm39)	E1601D	probably damaging	Het
Acsbg3	T	A	17: 57,192,169 (GRCm39)	Y577*	probably null	Het
Adam2	T	A	14: 66,275,055 (GRCm39)	K559N	probably benign	Het
Akap11	A	C	14: 78,747,529 (GRCm39)	D1619E	possibly damaging	Het
Ankrd11	T	C	8: 123,622,307 (GRCm39)	D515G	probably benign	Het
Ankrd27	T	A	7: 35,318,796 (GRCm39)	N562K	probably damaging	Het
Atp10b	T	C	11: 43,044,131 (GRCm39)	I119T	probably benign	Het
Atr	T	C	9: 95,819,619 (GRCm39)	I2202T	probably benign	Het
Bltp2	C	T	11: 78,162,750 (GRCm39)	L871F	possibly damaging	Het
Brd4	T	A	17: 32,432,514 (GRCm39)		probably benign	Het
Catsperg2	C	T	7: 29,405,996 (GRCm39)	C634Y	possibly damaging	Het
Cep192	A	G	18: 67,961,553 (GRCm39)		probably benign	Het
Cfap65	T	A	1: 74,966,230 (GRCm39)	I366F	probably damaging	Het
Cnga4	G	T	7: 105,056,875 (GRCm39)	R326L	probably damaging	Het
Cntnap5b	T	A	1: 99,999,878 (GRCm39)	M212K	probably benign	Het
Col6a6	T	A	9: 105,661,315 (GRCm39)	M265L	probably benign	Het
Cspg4b	A	T	13: 113,505,677 (GRCm39)	I727F	probably damaging	Het
Cyp26b1	A	T	6: 84,551,538 (GRCm39)	F417Y	probably damaging	Het
Dhx15	A	T	5: 52,308,088 (GRCm39)	M768K	probably benign	Het
Drc7	G	A	8: 95,797,881 (GRCm39)	R433H	possibly damaging	Het
Duox2	C	T	2: 122,122,785 (GRCm39)	V550M	probably benign	Het
Elmo2	A	G	2: 165,138,810 (GRCm39)	L456P	probably damaging	Het
Fbxo39	T	C	11: 72,208,356 (GRCm39)	I236T	probably benign	Het
Fezf2	A	G	14: 12,343,977 (GRCm38)	C305R	probably damaging	Het
Fndc3b	C	A	3: 27,511,155 (GRCm39)	C785F	probably benign	Het
Gm12253	T	C	11: 58,330,838 (GRCm39)		probably benign	Het
Gnat2	T	A	3: 108,002,878 (GRCm39)	Y95*	probably null	Het
Gopc	T	C	10: 52,226,774 (GRCm39)	K220E	probably damaging	Het
Hectd4	G	A	5: 121,392,314 (GRCm39)	D193N	possibly damaging	Het
Hexa	G	A	9: 59,461,509 (GRCm39)		probably null	Het
Hspa4l	T	C	3: 40,739,840 (GRCm39)		probably benign	Het
Hspa5	T	C	2: 34,664,332 (GRCm39)	S301P	probably damaging	Het
Ice1	A	T	13: 70,752,166 (GRCm39)	S1307T	possibly damaging	Het
Igtp	T	C	11: 58,096,880 (GRCm39)	L17P	probably damaging	Het
Itk	T	C	11: 46,244,743 (GRCm39)	Y225C	probably damaging	Het
Kifc3	A	G	8: 95,830,088 (GRCm39)	V560A	probably damaging	Het
Lama1	A	G	17: 68,124,564 (GRCm39)	N2875D	probably damaging	Het
Lasp1	C	A	11: 97,697,677 (GRCm39)	C32*	probably null	Het
Lcp2	T	A	11: 34,019,854 (GRCm39)		probably benign	Het
Lhx9	C	T	1: 138,760,642 (GRCm39)	G236D	probably benign	Het
Lrrc38	A	T	4: 143,076,979 (GRCm39)	I81F	probably damaging	Het
Ly6a	C	T	15: 74,867,236 (GRCm39)	V94M	probably benign	Het
Map3k13	A	G	16: 21,732,907 (GRCm39)	E503G	probably damaging	Het
Mertk	T	C	2: 128,624,541 (GRCm39)		probably benign	Het
Mrtfb	T	A	16: 13,230,027 (GRCm39)	I915N	probably damaging	Het
Msantd2	G	A	9: 37,434,515 (GRCm39)	D252N	possibly damaging	Het
Myo3a	T	C	2: 22,250,409 (GRCm39)	I92T	probably benign	Het
Naglu	T	A	11: 100,964,853 (GRCm39)	N313K	probably damaging	Het
Nceh1	T	C	3: 27,276,953 (GRCm39)	V92A	possibly damaging	Het
Ncf4	A	G	15: 78,135,083 (GRCm39)	T47A	probably damaging	Het
Nrp1	T	A	8: 129,187,164 (GRCm39)	F403L	probably damaging	Het
Nxph3	T	C	11: 95,402,082 (GRCm39)	T111A	possibly damaging	Het
Obscn	T	A	11: 58,929,441 (GRCm39)	E6061V	probably damaging	Het
Obsl1	C	A	1: 75,469,571 (GRCm39)	G1149W	probably damaging	Het
Or14c39	A	G	7: 86,344,068 (GRCm39)	T135A	probably benign	Het
Or2k2	A	T	4: 58,784,981 (GRCm39)	V247E	probably damaging	Het
Or2p2	T	A	13: 21,256,544 (GRCm39)	Y309F	probably benign	Het
Or5b123	A	G	19: 13,596,849 (GRCm39)	T65A	probably benign	Het
Or5d14	C	T	2: 87,880,756 (GRCm39)	V71I	possibly damaging	Het
Or5p68	A	C	7: 107,946,121 (GRCm39)	D22E	probably benign	Het
Or6c70	T	A	10: 129,710,415 (GRCm39)	L70F	possibly damaging	Het
Pde9a	T	C	17: 31,674,080 (GRCm39)	V55A	probably damaging	Het
Pip4k2c	A	T	10: 127,041,690 (GRCm39)		probably null	Het
Plvap	T	C	8: 71,964,026 (GRCm39)	N112S	probably damaging	Het
Pop1	T	A	15: 34,530,004 (GRCm39)		probably null	Het
Ppip5k2	T	C	1: 97,644,278 (GRCm39)	H1113R	possibly damaging	Het
Ptprk	A	T	10: 28,449,388 (GRCm39)	I962F	probably damaging	Het
Rad51ap2	T	C	12: 11,507,043 (GRCm39)	S322P	possibly damaging	Het
Rasal1	A	G	5: 120,812,670 (GRCm39)	T565A	probably benign	Het
Rbm15	C	A	3: 107,238,471 (GRCm39)	R642S	probably damaging	Het
Rpsa	G	A	9: 119,960,069 (GRCm39)	E211K	possibly damaging	Het
Ryr3	A	G	2: 112,517,155 (GRCm39)	S3303P	probably damaging	Het
Scg2	T	A	1: 79,413,229 (GRCm39)	N458I	possibly damaging	Het
Setx	A	G	2: 29,069,655 (GRCm39)	T2487A	probably benign	Het
Slc4a5	G	A	6: 83,244,549 (GRCm39)		probably benign	Het
Slc8a2	T	A	7: 15,874,914 (GRCm39)	D387E	probably benign	Het
Smarcc2	A	G	10: 128,310,591 (GRCm39)	T407A	probably benign	Het
Snap25	A	G	2: 136,619,384 (GRCm39)	D179G	probably damaging	Het
Socs4	T	C	14: 47,527,325 (GRCm39)	S74P	probably benign	Het
Sp6	T	A	11: 96,912,751 (GRCm39)	Y155N	probably benign	Het
Srrt	C	T	5: 137,294,389 (GRCm39)		probably benign	Het
Steap1	C	T	5: 5,786,431 (GRCm39)	M335I	probably benign	Het
Stra6	A	T	9: 58,052,772 (GRCm39)	Y250F	probably benign	Het
Svil	T	C	18: 5,094,582 (GRCm39)	S1421P	probably damaging	Het
Tcea3	G	A	4: 135,998,677 (GRCm39)	C317Y	probably damaging	Het
Tmco6	T	C	18: 36,870,757 (GRCm39)	L117S	probably damaging	Het
Trp53bp1	T	C	2: 121,100,718 (GRCm39)	K89E	probably damaging	Het
Trp63	T	A	16: 25,583,052 (GRCm39)		probably benign	Het
Ube2d2a	A	G	18: 35,933,185 (GRCm39)	Y74C	probably damaging	Het
Usp19	T	G	9: 108,375,708 (GRCm39)	F885V	probably damaging	Het
Utp18	T	A	11: 93,773,003 (GRCm39)		probably benign	Het
Vmn2r116	T	C	17: 23,620,387 (GRCm39)	I707T	possibly damaging	Het
Vmn2r68	T	A	7: 84,882,457 (GRCm39)		probably benign	Het
Vmn2r68	C	G	7: 84,882,466 (GRCm39)		probably null	Het
Zfp318	C	T	17: 46,723,540 (GRCm39)	P1848S	probably benign	Het
Zfp984	G	T	4: 147,839,722 (GRCm39)	N376K	probably benign	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
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
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'- CACCAGTGCTAAGGCTAAGCGAAG -3'
(R):5'- CAGCAGCTCACAGTCACCTGTAATC -3'

Sequencing Primer
(F):5'- TGAGCAAGCGAGTCTCACTG -3'
(R):5'- CAGGCCCTGAGTAAACTGTATC -3'

Posted On

2013-05-23