Mutagenetix > Incidental Mutation

Incidental Mutation 'R8778:Mtmr12'

670145

Institutional Source

Beutler Lab

Gene Symbol

Mtmr12

Ensembl Gene

ENSMUSG00000039458

Gene Name

myotubularin related protein 12

Synonyms

Pip3ap, C730015A02Rik

MMRRC Submission

068603-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8778 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

12205056-12272326 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 12270006 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 698 (N698S)

Ref Sequence

ENSEMBL: ENSMUSP00000041227 (fasta)

Gene Model

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

AlphaFold

Q80TA6

Predicted Effect

probably benign
Transcript: ENSMUST00000038172
AA Change: N698S

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000041227
Gene: ENSMUSG00000039458
AA Change: N698S

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
AA Change: N388S

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000071883
Gene: ENSMUSG00000039458
AA Change: N388S

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430033K04Rik	T	A	5: 138,645,149 (GRCm39)	C345S	possibly damaging	Het
Acod1	A	G	14: 103,292,918 (GRCm39)	T481A	probably benign	Het
Adamtsl1	T	C	4: 85,432,687 (GRCm39)	V5A	probably benign	Het
Ahnak2	T	A	12: 112,783,158 (GRCm38)	Q1023L		Het
Akt1	C	T	12: 112,625,102 (GRCm39)	E149K	probably benign	Het
Arhgap10	T	C	8: 78,140,240 (GRCm39)	E240G	probably damaging	Het
Asap1	G	A	15: 63,999,258 (GRCm39)	P516S	probably benign	Het
Ccdc88c	T	C	12: 100,911,483 (GRCm39)	R784G	probably benign	Het
Cep290	T	A	10: 100,350,374 (GRCm39)	L656*	probably null	Het
Chd2	A	C	7: 73,079,483 (GRCm39)	S1806A	possibly damaging	Het
Cyp4f15	G	T	17: 32,921,378 (GRCm39)	A475S	probably damaging	Het
Dnah12	A	G	14: 26,455,718 (GRCm39)	T814A	probably benign	Het
Dnah8	CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT	CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT	17: 30,979,841 (GRCm39)		probably null	Het
Eif4g1	G	A	16: 20,492,196 (GRCm39)		probably benign	Het
Entpd8	G	A	2: 24,971,858 (GRCm39)	V9I	probably benign	Het
Frmd4a	C	T	2: 4,478,026 (GRCm39)	T65M	probably damaging	Het
Gabrr2	T	C	4: 33,095,517 (GRCm39)	Y469H	probably damaging	Het
Gjd3	T	C	11: 98,873,842 (GRCm39)	M1V	probably null	Het
Golga7	T	C	8: 23,735,944 (GRCm39)	N101D	possibly damaging	Het
Hebp1	A	G	6: 135,145,068 (GRCm39)	F10L	probably benign	Het
Hs3st3a1	T	A	11: 64,327,251 (GRCm39)	V120E	probably benign	Het
Idh1	CA	CAA	1: 65,204,347 (GRCm39)		probably null	Het
Iho1	A	G	9: 108,282,807 (GRCm39)	S294P	probably damaging	Het
Inhbc	A	G	10: 127,193,693 (GRCm39)	S108P	probably damaging	Het
Itgbl1	T	A	14: 124,078,075 (GRCm39)	D188E	probably benign	Het
Lmo7	T	G	14: 102,149,503 (GRCm39)	S1091A	probably damaging	Het
Lmo7	T	C	14: 102,156,655 (GRCm39)	V1275A	probably benign	Het
Lrrc25	T	G	8: 71,070,242 (GRCm39)	L8V	possibly damaging	Het
Lyst	T	C	13: 13,810,361 (GRCm39)	I677T	possibly damaging	Het
Lyst	A	G	13: 13,903,152 (GRCm39)	N3174S	possibly damaging	Het
Mgst3	C	T	1: 167,203,032 (GRCm39)	V80I	probably benign	Het
Myo18a	A	G	11: 77,714,150 (GRCm39)	Y748C	probably damaging	Het
Myoz2	T	C	3: 122,800,156 (GRCm39)	N224S	possibly damaging	Het
Nebl	T	C	2: 17,409,078 (GRCm39)	Y340C	probably damaging	Het
Or10h28	T	C	17: 33,488,420 (GRCm39)	S241P	probably damaging	Het
Pcdha9	G	T	18: 37,132,244 (GRCm39)	V438L	possibly damaging	Het
Pramel13	T	C	4: 144,119,466 (GRCm39)	D367G	probably damaging	Het
Semp2l2b	T	A	10: 21,943,356 (GRCm39)	E208V	probably damaging	Het
Sfrp2	T	G	3: 83,674,093 (GRCm39)	L82R	probably damaging	Het
Spata7	T	A	12: 98,624,815 (GRCm39)	L239Q	probably damaging	Het
Syncrip	A	T	9: 88,338,294 (GRCm39)	I590N	unknown	Het
Syne1	T	C	10: 5,309,066 (GRCm39)	T648A	probably benign	Het
Tmc5	A	G	7: 118,222,816 (GRCm39)	Y172C	unknown	Het
Trim30a	A	T	7: 104,060,772 (GRCm39)	Y335N	probably benign	Het
Trmt10c	A	G	16: 55,855,372 (GRCm39)	S88P	probably benign	Het
Trpc3	T	C	3: 36,725,070 (GRCm39)	E302G	probably damaging	Het
Ttn	T	C	2: 76,591,580 (GRCm39)	T21030A	possibly damaging	Het
Uba6	G	T	5: 86,260,556 (GRCm39)	P1039T	possibly damaging	Het
Vmn2r75	A	T	7: 85,813,497 (GRCm39)	I435N	probably benign	Het
Zfp1008	T	C	13: 62,753,169 (GRCm39)	K73E	possibly damaging	Het
Zkscan5	T	C	5: 145,155,142 (GRCm39)	V271A	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
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
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
RF013:Mtmr12	UTSW	15	12,261,984 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- AATCAAGGTGTGGGCTCAG -3'
(R):5'- AGTCCAGGGAACAACTGTCC -3'

Sequencing Primer
(F):5'- CAGCGCTATTTACGTTGGATTCCAG -3'
(R):5'- GTCCCACCATACAGTGTGC -3'

Posted On

2021-04-30