Mutagenetix > Incidental Mutation

Incidental Mutation 'R2352:Mtmr10'

246199

Institutional Source

Beutler Lab

Gene Symbol

Mtmr10

Ensembl Gene

ENSMUSG00000030522

Gene Name

myotubularin related protein 10

Synonyms

MMRRC Submission

040334-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.298) question?

Stock #

R2352 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

63937418-63990554 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 63947328 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 81 (D81G)

Ref Sequence

ENSEMBL: ENSMUSP00000146259 (fasta)

Gene Model

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

AlphaFold

Q7TPM9

Predicted Effect

probably benign
Transcript: ENSMUST00000032736
AA Change: D81G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000032736
Gene: ENSMUSG00000030522
AA Change: D81G

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

possibly damaging
Transcript: ENSMUST00000206452
AA Change: D81G

PolyPhen 2 Score 0.710 (Sensitivity: 0.86; Specificity: 0.92)

Predicted Effect

probably benign
Transcript: ENSMUST00000206680

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206732

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd28	C	T	14: 31,432,904 (GRCm39)	V548I	probably benign	Het
Aspm	T	C	1: 139,385,300 (GRCm39)	S315P	probably benign	Het
Caln1	G	T	5: 130,534,993 (GRCm39)	E70*	probably null	Het
Cd69	A	T	6: 129,246,567 (GRCm39)	W114R	probably damaging	Het
Cnbd2	T	C	2: 156,177,275 (GRCm39)	Y90H	probably damaging	Het
Crebrf	C	T	17: 26,961,320 (GRCm39)	S147F	probably damaging	Het
Cts7	A	T	13: 61,500,586 (GRCm39)	C320*	probably null	Het
Dgat1	T	C	15: 76,386,513 (GRCm39)	I474V	possibly damaging	Het
Dmxl2	T	A	9: 54,301,146 (GRCm39)	I2322F	probably damaging	Het
Dnah11	A	T	12: 117,892,065 (GRCm39)	F3703I	probably damaging	Het
Foxb2	A	G	19: 16,850,433 (GRCm39)	L191P	unknown	Het
Gli3	A	T	13: 15,836,977 (GRCm39)	E453D	probably benign	Het
Gnl3	C	T	14: 30,738,783 (GRCm39)		probably null	Het
Golgb1	A	T	16: 36,718,921 (GRCm39)	T276S	probably damaging	Het
Grk4	T	C	5: 34,826,520 (GRCm39)	M40T	probably benign	Het
Hoxb1	A	G	11: 96,257,203 (GRCm39)	N184S	possibly damaging	Het
Insr	G	T	8: 3,242,593 (GRCm39)	T42N	probably damaging	Het
Iqgap3	A	G	3: 88,011,815 (GRCm39)	K836E	possibly damaging	Het
Kremen1	CGGG	CGGGGGG	11: 5,151,791 (GRCm39)		probably benign	Het
Leng9	T	A	7: 4,152,409 (GRCm39)	E89V	probably damaging	Het
Lhcgr	C	T	17: 89,049,727 (GRCm39)	V600I	possibly damaging	Het
Lima1	T	C	15: 99,692,396 (GRCm39)	N183S	probably benign	Het
Lmtk2	A	G	5: 144,110,729 (GRCm39)	D483G	probably benign	Het
Lpcat2b	T	G	5: 107,581,307 (GRCm39)	L212R	probably damaging	Het
Lrrc61	A	T	6: 48,545,806 (GRCm39)	I210F	probably benign	Het
Lypd8l	G	A	11: 58,502,934 (GRCm39)	Q72*	probably null	Het
Lypd8l	A	T	11: 58,503,676 (GRCm39)	L10H	probably damaging	Het
Med12l	C	T	3: 59,148,113 (GRCm39)	L977F	probably damaging	Het
Mical1	A	T	10: 41,358,229 (GRCm39)	D414V	probably benign	Het
Mmp14	C	T	14: 54,678,002 (GRCm39)	A541V	probably benign	Het
Myh1	G	A	11: 67,111,363 (GRCm39)	V1601M	probably benign	Het
Myo16	G	A	8: 10,644,905 (GRCm39)	D1746N	possibly damaging	Het
Neb	T	C	2: 52,177,348 (GRCm39)	Y1331C	probably damaging	Het
Otop2	T	C	11: 115,219,927 (GRCm39)	S256P	probably damaging	Het
Prl8a1	A	G	13: 27,759,572 (GRCm39)	L155P	probably damaging	Het
Rrp1b	A	T	17: 32,278,302 (GRCm39)	M658L	possibly damaging	Het
Sema4b	C	A	7: 79,870,627 (GRCm39)	A525D	probably damaging	Het
Slc13a5	T	A	11: 72,143,147 (GRCm39)	I369F	probably benign	Het
Slc22a18	T	C	7: 143,051,152 (GRCm39)	S344P	probably benign	Het
Slc25a4	A	C	8: 46,662,212 (GRCm39)	S149A	probably benign	Het
Smc2	A	T	4: 52,460,266 (GRCm39)	E547D	probably benign	Het
Stx8	A	G	11: 67,864,077 (GRCm39)	T46A	probably benign	Het
Tacr3	T	C	3: 134,560,631 (GRCm39)	V190A	probably benign	Het
Tdrkh	A	T	3: 94,336,467 (GRCm39)	K468M	possibly damaging	Het
Tmem145	T	C	7: 25,005,598 (GRCm39)	S4P	probably benign	Het
Tmem74	A	G	15: 43,730,506 (GRCm39)	I179T	probably damaging	Het
Vmn1r222	A	C	13: 23,416,683 (GRCm39)	W177G	probably benign	Het
Zfp426	T	C	9: 20,381,401 (GRCm39)	I529V	probably benign	Het
Zfp462	A	G	4: 55,008,313 (GRCm39)	Y93C	probably null	Het
Zfyve26	G	A	12: 79,330,890 (GRCm39)	T443I	probably damaging	Het
Zkscan16	A	C	4: 58,951,869 (GRCm39)	R181S	possibly damaging	Het

Other mutations in Mtmr10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01999:Mtmr10	APN	7	63,987,460 (GRCm39)	missense	probably benign
IGL02082:Mtmr10	APN	7	63,983,238 (GRCm39)	splice site	probably benign
IGL02234:Mtmr10	APN	7	63,949,350 (GRCm39)	missense	probably benign	0.04
IGL02448:Mtmr10	APN	7	63,957,898 (GRCm39)	missense	probably damaging	1.00
IGL02515:Mtmr10	APN	7	63,987,259 (GRCm39)	missense	probably damaging	1.00
Curlyq	UTSW	7	63,983,187 (GRCm39)	missense	probably damaging	1.00
K7371:Mtmr10	UTSW	7	63,963,958 (GRCm39)	missense	probably benign	0.18
PIT4472001:Mtmr10	UTSW	7	63,983,106 (GRCm39)	missense	probably benign	0.23
R0302:Mtmr10	UTSW	7	63,947,245 (GRCm39)	missense	probably damaging	1.00
R0619:Mtmr10	UTSW	7	63,970,961 (GRCm39)	missense	probably benign	0.00
R0787:Mtmr10	UTSW	7	63,950,363 (GRCm39)	missense	possibly damaging	0.95
R0972:Mtmr10	UTSW	7	63,976,457 (GRCm39)	missense	probably damaging	1.00
R1482:Mtmr10	UTSW	7	63,963,997 (GRCm39)	missense	probably damaging	1.00
R1770:Mtmr10	UTSW	7	63,986,469 (GRCm39)	missense	possibly damaging	0.47
R1826:Mtmr10	UTSW	7	63,987,214 (GRCm39)	missense	probably benign	0.00
R2174:Mtmr10	UTSW	7	63,986,512 (GRCm39)	missense	possibly damaging	0.94
R2215:Mtmr10	UTSW	7	63,987,403 (GRCm39)	missense	probably benign	0.00
R2411:Mtmr10	UTSW	7	63,947,245 (GRCm39)	missense	probably damaging	1.00
R3702:Mtmr10	UTSW	7	63,987,647 (GRCm39)	missense	probably damaging	1.00
R3710:Mtmr10	UTSW	7	63,976,433 (GRCm39)	missense	possibly damaging	0.86
R3802:Mtmr10	UTSW	7	63,970,376 (GRCm39)	missense	probably benign	0.29
R4190:Mtmr10	UTSW	7	63,963,934 (GRCm39)	missense	probably benign	0.37
R4484:Mtmr10	UTSW	7	63,970,379 (GRCm39)	missense	possibly damaging	0.86
R4562:Mtmr10	UTSW	7	63,963,907 (GRCm39)	missense	possibly damaging	0.92
R5128:Mtmr10	UTSW	7	63,983,187 (GRCm39)	missense	probably damaging	1.00
R5203:Mtmr10	UTSW	7	63,967,909 (GRCm39)	missense	probably benign
R5444:Mtmr10	UTSW	7	63,938,149 (GRCm39)	splice site	probably null
R5627:Mtmr10	UTSW	7	63,986,500 (GRCm39)	missense	probably damaging	1.00
R5786:Mtmr10	UTSW	7	63,987,458 (GRCm39)	missense	probably damaging	1.00
R7078:Mtmr10	UTSW	7	63,970,375 (GRCm39)	missense	possibly damaging	0.65
R7236:Mtmr10	UTSW	7	63,963,932 (GRCm39)	utr 3 prime	probably benign
R7575:Mtmr10	UTSW	7	63,947,213 (GRCm39)	missense	probably damaging	0.99
R7863:Mtmr10	UTSW	7	63,969,205 (GRCm39)	missense	probably benign	0.03
R7939:Mtmr10	UTSW	7	63,963,899 (GRCm39)	missense	probably benign	0.19
R9370:Mtmr10	UTSW	7	63,969,249 (GRCm39)	missense	probably benign	0.12

Predicted Primers

PCR Primer
(F):5'- AGTCATTCTTTCAGCCACCAG -3'
(R):5'- TGCTAAGTCGATCAATTCCACC -3'

Sequencing Primer
(F):5'- AGCTCACACAGTGCTTTCAGG -3'
(R):5'- AGTCGATCAATTCCACCGTTTACAG -3'

Posted On

2014-10-30