Mutagenetix > Incidental Mutation

Incidental Mutation 'R3702:Mtmr10'

258564

Institutional Source

Beutler Lab

Gene Symbol

Mtmr10

Ensembl Gene

ENSMUSG00000030522

Gene Name

myotubularin related protein 10

Synonyms

MMRRC Submission

040695-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.263) question?

Stock #

R3702 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

64287653-64340806 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 64337899 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 729 (L729P)

Ref Sequence

ENSEMBL: ENSMUSP00000032736 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032736] [ENSMUST00000206452]

AlphaFold

Q7TPM9

Predicted Effect

probably damaging
Transcript: ENSMUST00000032736
AA Change: L729P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000032736
Gene: ENSMUSG00000030522
AA Change: L729P

Domain	Start	End	E-Value	Type
Pfam:Myotub-related	176	330	8.6e-12	PFAM
Pfam:Myotub-related	319	508	2.7e-56	PFAM
Pfam:3-PAP	570	701	2.2e-57	PFAM
low complexity region	730	737	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173374

Predicted Effect

probably benign
Transcript: ENSMUST00000206452

Meta Mutation Damage Score

0.1672

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.6%

Validation Efficiency

100% (38/38)

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010111I01Rik	A	T	13: 63,015,330	N55I	probably benign	Het
9530053A07Rik	G	A	7: 28,157,778	V2184M	probably damaging	Het
Abca5	C	T	11: 110,288,058		probably null	Het
Cacna1a	T	G	8: 84,617,846	S1846A	probably damaging	Het
Cacna1i	A	T	15: 80,381,071		probably benign	Het
Calhm3	T	A	19: 47,151,748	D302V	possibly damaging	Het
Cluh	A	G	11: 74,665,356	M878V	probably benign	Het
Col24a1	C	T	3: 145,337,860	H603Y	probably benign	Het
Commd1	T	A	11: 22,974,057	L277H	probably damaging	Het
Cpped1	G	T	16: 11,828,440	D135E	probably damaging	Het
Cul5	T	C	9: 53,629,216	K499E	probably damaging	Het
Elfn1	A	G	5: 139,972,359	T373A	probably benign	Het
Fam83h	C	T	15: 76,002,650	R946K	probably benign	Het
Gm10608	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	9: 119,160,716		probably null	Het
Grik4	T	C	9: 42,675,218	K114E	probably damaging	Het
Hivep1	T	C	13: 42,157,727	S1148P	probably benign	Het
Itgb1bp2	T	C	X: 101,451,687		probably benign	Het
Lrp1	C	A	10: 127,595,103	R359L	probably damaging	Het
Lyn	A	G	4: 3,742,455	H28R	probably benign	Het
Myot	T	A	18: 44,354,095		probably null	Het
Obox2	G	T	7: 15,396,957	R38L	probably benign	Het
Olfr787	A	T	10: 129,462,952	Y92F	probably damaging	Het
Pcdha3	A	G	18: 36,947,348	Q381R	probably benign	Het
Pip4k2b	A	G	11: 97,729,548		probably benign	Het
Ppig	T	A	2: 69,733,209	S89T	probably damaging	Het
Prune2	A	G	19: 17,178,871	D47G	probably damaging	Het
Sh2b2	A	G	5: 136,224,233	S362P	probably damaging	Het
Snap91	G	A	9: 86,806,520	T322I	probably damaging	Het
Taf3	G	A	2: 9,952,561	T112I	possibly damaging	Het
Tcea1	T	C	1: 4,894,935	V276A	probably benign	Het
Tex15	T	C	8: 33,574,166	V1208A	probably benign	Het
Tomm40	G	T	7: 19,713,673	T144K	possibly damaging	Het
Zbed5	G	A	5: 129,903,159	D650N	possibly damaging	Het
Zfp326	A	G	5: 105,888,843		probably null	Het
Zfp647	G	A	15: 76,910,910	R517W	probably damaging	Het

Other mutations in Mtmr10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01999:Mtmr10	APN	7	64337712	missense	probably benign
IGL02082:Mtmr10	APN	7	64333490	splice site	probably benign
IGL02234:Mtmr10	APN	7	64299602	missense	probably benign	0.04
IGL02448:Mtmr10	APN	7	64308150	missense	probably damaging	1.00
IGL02515:Mtmr10	APN	7	64337511	missense	probably damaging	1.00
Curlyq	UTSW	7	64333439	missense	probably damaging	1.00
K7371:Mtmr10	UTSW	7	64314210	missense	probably benign	0.18
PIT4472001:Mtmr10	UTSW	7	64333358	missense	probably benign	0.23
R0302:Mtmr10	UTSW	7	64297497	missense	probably damaging	1.00
R0619:Mtmr10	UTSW	7	64321213	missense	probably benign	0.00
R0787:Mtmr10	UTSW	7	64300615	missense	possibly damaging	0.95
R0972:Mtmr10	UTSW	7	64326709	missense	probably damaging	1.00
R1482:Mtmr10	UTSW	7	64314249	missense	probably damaging	1.00
R1770:Mtmr10	UTSW	7	64336721	missense	possibly damaging	0.47
R1826:Mtmr10	UTSW	7	64337466	missense	probably benign	0.00
R2174:Mtmr10	UTSW	7	64336764	missense	possibly damaging	0.94
R2215:Mtmr10	UTSW	7	64337655	missense	probably benign	0.00
R2352:Mtmr10	UTSW	7	64297580	missense	possibly damaging	0.71
R2411:Mtmr10	UTSW	7	64297497	missense	probably damaging	1.00
R3710:Mtmr10	UTSW	7	64326685	missense	possibly damaging	0.86
R3802:Mtmr10	UTSW	7	64320628	missense	probably benign	0.29
R4190:Mtmr10	UTSW	7	64314186	missense	probably benign	0.37
R4484:Mtmr10	UTSW	7	64320631	missense	possibly damaging	0.86
R4562:Mtmr10	UTSW	7	64314159	missense	possibly damaging	0.92
R5128:Mtmr10	UTSW	7	64333439	missense	probably damaging	1.00
R5203:Mtmr10	UTSW	7	64318161	missense	probably benign
R5444:Mtmr10	UTSW	7	64288401	splice site	probably null
R5627:Mtmr10	UTSW	7	64336752	missense	probably damaging	1.00
R5786:Mtmr10	UTSW	7	64337710	missense	probably damaging	1.00
R7078:Mtmr10	UTSW	7	64320627	missense	possibly damaging	0.65
R7236:Mtmr10	UTSW	7	64314184	utr 3 prime	probably benign
R7575:Mtmr10	UTSW	7	64297465	missense	probably damaging	0.99
R7863:Mtmr10	UTSW	7	64319457	missense	probably benign	0.03
R7939:Mtmr10	UTSW	7	64314151	missense	probably benign	0.19
R9370:Mtmr10	UTSW	7	64319501	missense	probably benign	0.12

Predicted Primers

PCR Primer
(F):5'- GGAAACTGTGCTACTTCCGTTG -3'
(R):5'- AATGTCCAGCTTCTCTCAATATGTC -3'

Sequencing Primer
(F):5'- ACTTCCGTTGGGTCCCTGAG -3'
(R):5'- TGCTTAATGGCGTTCCTA -3'

Posted On

2015-01-23