Mutagenetix > Incidental Mutation

Incidental Mutation 'R7511:Mtmr12'

582114

Institutional Source

Beutler Lab

Gene Symbol

Mtmr12

Ensembl Gene

ENSMUSG00000039458

Gene Name

myotubularin related protein 12

Synonyms

Pip3ap, C730015A02Rik

MMRRC Submission

045584-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7511 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

12205056-12272326 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 12265681 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Aspartic acid at position 466 (Y466D)

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: Y466D

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000041227
Gene: ENSMUSG00000039458
AA Change: Y466D

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: Y156D

PolyPhen 2 Score 0.782 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000071883
Gene: ENSMUSG00000039458
AA Change: Y156D

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: Y466D

PolyPhen 2 Score 0.818 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000134293
Gene: ENSMUSG00000039458
AA Change: Y466D

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

0.1712

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (65/65)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsbg3	A	G	17: 57,189,954 (GRCm39)	K327E	probably damaging	Het
Adamts14	G	A	10: 61,054,307 (GRCm39)	A572V	possibly damaging	Het
Add2	A	G	6: 86,075,597 (GRCm39)	N249D	probably benign	Het
Adgrb2	A	T	4: 129,915,904 (GRCm39)	M1503L	probably benign	Het
Alms1	A	G	6: 85,586,407 (GRCm39)	K421E	unknown	Het
B3galt5	A	G	16: 96,116,916 (GRCm39)	K183R	possibly damaging	Het
Braf	T	C	6: 39,665,187 (GRCm39)	I94M	probably damaging	Het
Cacna1a	A	G	8: 85,294,311 (GRCm39)	E1158G	possibly damaging	Het
Ccdc177	C	A	12: 80,804,457 (GRCm39)	V606L	unknown	Het
Ccdc38	C	A	10: 93,398,662 (GRCm39)	L147I	possibly damaging	Het
Ccdc83	T	C	7: 89,886,130 (GRCm39)	N210D	possibly damaging	Het
Cdh20	T	C	1: 109,925,583 (GRCm39)		probably benign	Het
Coro1b	T	A	19: 4,202,525 (GRCm39)	Y338N	probably damaging	Het
Crlf3	A	C	11: 79,954,812 (GRCm39)		probably null	Het
Crnn	A	T	3: 93,056,723 (GRCm39)	K503M	probably damaging	Het
Cul5	T	A	9: 53,537,269 (GRCm39)	N521I	probably damaging	Het
Cyp2c50	T	A	19: 40,080,634 (GRCm39)		probably null	Het
Dis3	T	C	14: 99,337,042 (GRCm39)	H23R	possibly damaging	Het
Dock7	A	T	4: 98,949,519 (GRCm39)	L441H		Het
Dock7	C	A	4: 98,967,992 (GRCm39)	E162*	probably null	Het
Dpp9	A	T	17: 56,512,611 (GRCm39)	M174K	possibly damaging	Het
Dtd1	A	G	2: 144,459,147 (GRCm39)	D57G	probably benign	Het
F3	A	G	3: 121,525,206 (GRCm39)	E149G	probably damaging	Het
Glp2r	C	T	11: 67,648,417 (GRCm39)	R95K	probably damaging	Het
Gpr107	T	A	2: 31,068,358 (GRCm39)	F273L	probably benign	Het
Gria1	A	T	11: 57,174,451 (GRCm39)	I647F	probably damaging	Het
Heatr5a	A	C	12: 51,926,217 (GRCm39)	I1878S	possibly damaging	Het
Hsf2	G	T	10: 57,380,653 (GRCm39)	C230F	probably benign	Het
Igfbp2	T	G	1: 72,891,164 (GRCm39)	M254R	probably damaging	Het
Kifc2	C	A	15: 76,545,537 (GRCm39)	Q95K	possibly damaging	Het
Lnx1	T	G	5: 74,780,972 (GRCm39)	N183T	probably benign	Het
Ltn1	G	T	16: 87,205,716 (GRCm39)	T983K	possibly damaging	Het
Macf1	A	T	4: 123,367,093 (GRCm39)	V2556D	possibly damaging	Het
Map4k3	A	G	17: 80,905,077 (GRCm39)	V738A	possibly damaging	Het
Musk	A	G	4: 58,333,672 (GRCm39)	I256V	probably benign	Het
Ociad1	T	C	5: 73,452,338 (GRCm39)	F43S	probably damaging	Het
Or10g9b	A	T	9: 39,918,229 (GRCm39)	S5R	possibly damaging	Het
Or4k5	A	G	14: 50,385,713 (GRCm39)	L206P	probably damaging	Het
Pah	G	A	10: 87,390,249 (GRCm39)	A132T	probably damaging	Het
Pak5	G	A	2: 135,925,244 (GRCm39)	S686F	possibly damaging	Het
Pi4kb	T	C	3: 94,896,623 (GRCm39)	S307P	probably benign	Het
Plxna1	T	C	6: 89,318,889 (GRCm39)	T645A	possibly damaging	Het
Pold1	C	T	7: 44,191,614 (GRCm39)	R124K	possibly damaging	Het
Pramel27	T	A	4: 143,573,116 (GRCm39)	I3N	possibly damaging	Het
Prdm10	T	C	9: 31,289,777 (GRCm39)	Y1153H	probably damaging	Het
Ptk2b	T	C	14: 66,391,693 (GRCm39)	N947S	possibly damaging	Het
Rad54b	A	G	4: 11,578,956 (GRCm39)		probably null	Het
S1pr4	A	G	10: 81,335,623 (GRCm39)		probably benign	Het
Sec23b	A	G	2: 144,432,269 (GRCm39)	K760E	probably benign	Het
Sergef	T	A	7: 46,264,170 (GRCm39)	N239I	probably damaging	Het
Serpinb9	C	A	13: 33,192,054 (GRCm39)	N78K	probably benign	Het
Sntb1	G	T	15: 55,511,347 (GRCm39)	F412L	possibly damaging	Het
Stradb	T	A	1: 59,032,108 (GRCm39)	F294L	probably damaging	Het
Ttll11	G	A	2: 35,793,046 (GRCm39)	R266C	probably damaging	Het
Ttn	A	T	2: 76,624,882 (GRCm39)	M15232K	possibly damaging	Het
Tubgcp2	T	C	7: 139,584,793 (GRCm39)	I547M	probably benign	Het
Vgf	C	A	5: 137,060,245 (GRCm39)	P136T	unknown	Het
Vmn1r36	T	A	6: 66,693,914 (GRCm39)		probably benign	Het
Vmn2r102	T	C	17: 19,901,405 (GRCm39)	S511P	probably damaging	Het
Wdr27	C	T	17: 15,103,965 (GRCm39)	V714I	probably benign	Het
Zbed6	T	A	1: 133,586,981 (GRCm39)	I119L	probably benign	Het
Zfp229	A	G	17: 21,964,045 (GRCm39)	S92G	probably benign	Het
Zfp710	C	T	7: 79,732,250 (GRCm39)	Q476*	probably null	Het
Zfp808	A	G	13: 62,320,637 (GRCm39)	N622S	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
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'- CCCTGAGAATGTTCATCACTTGG -3'
(R):5'- GCAGCTTCTTTGACACACAG -3'

Sequencing Primer
(F):5'- CTGAGAATGTTCATCACTTGGAGTAG -3'
(R):5'- TCTTTGACACACAGAGACCAGGTTG -3'

Posted On

2019-10-17