Mutagenetix > Incidental Mutation

Incidental Mutation 'R7312:Mtmr11'

567650

Institutional Source

Beutler Lab

Gene Symbol

Mtmr11

Ensembl Gene

ENSMUSG00000045934

Gene Name

myotubularin related protein 11

Synonyms

MMRRC Submission

045410-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.153) question?

Stock #

R7312 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

96069321-96079034 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 96071855 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 223 (T223M)

Ref Sequence

ENSEMBL: ENSMUSP00000062341 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035519] [ENSMUST00000054356] [ENSMUST00000090785] [ENSMUST00000098849] [ENSMUST00000129925]

AlphaFold

Q3V1L6

Predicted Effect

probably benign
Transcript: ENSMUST00000035519

SMART Domains

Protein: ENSMUSP00000046413
Gene: ENSMUSG00000038495

Domain	Start	End	E-Value	Type
PDB:2L2D\|A	1	59	1e-25	PDB
low complexity region	112	124	N/A	INTRINSIC
Pfam:OTU	189	359	4.9e-30	PFAM
low complexity region	482	498	N/A	INTRINSIC
low complexity region	527	558	N/A	INTRINSIC
low complexity region	821	836	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000054356
AA Change: T223M

PolyPhen 2 Score 0.683 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000062341
Gene: ENSMUSG00000045934
AA Change: T223M

Domain	Start	End	E-Value	Type
Pfam:Myotub-related	191	323	1.7e-12	PFAM
Pfam:Myotub-related	312	488	1.3e-44	PFAM
Pfam:3-PAP	550	683	2.3e-29	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000090785

SMART Domains

Protein: ENSMUSP00000088291
Gene: ENSMUSG00000038495

Domain	Start	End	E-Value	Type
PDB:2L2D\|A	1	59	1e-25	PDB
low complexity region	112	124	N/A	INTRINSIC
Pfam:OTU	189	359	4.9e-30	PFAM
low complexity region	482	498	N/A	INTRINSIC
low complexity region	527	558	N/A	INTRINSIC
low complexity region	821	836	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000098849

SMART Domains

Protein: ENSMUSP00000096449
Gene: ENSMUSG00000038495

Domain	Start	End	E-Value	Type
PDB:2L2D\|A	1	59	1e-25	PDB
low complexity region	112	124	N/A	INTRINSIC
Pfam:OTU	189	359	4.7e-27	PFAM
low complexity region	482	498	N/A	INTRINSIC
low complexity region	527	558	N/A	INTRINSIC
Pfam:zf-A20	797	821	6.3e-10	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000129925
AA Change: T223M

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

SMART Domains

Protein: ENSMUSP00000118258
Gene: ENSMUSG00000045934
AA Change: T223M

Domain	Start	End	E-Value	Type
Pfam:Myotub-related	162	264	4.2e-10	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (60/60)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933434E20Rik	T	C	3: 89,969,021 (GRCm39)	S215P	probably benign	Het
Ano2	C	T	6: 126,016,460 (GRCm39)	Q998*	probably null	Het
Atg9a	A	T	1: 75,164,736 (GRCm39)	V76E	probably damaging	Het
Cacna1c	T	C	6: 119,034,172 (GRCm39)	I118M		Het
Cacna1g	T	A	11: 94,323,383 (GRCm39)	I1274F	probably damaging	Het
Cd300lg	C	T	11: 101,937,767 (GRCm39)	A199V	probably benign	Het
Cfap61	C	T	2: 145,887,390 (GRCm39)	R612*	probably null	Het
Cpeb4	A	T	11: 31,881,417 (GRCm39)	Y692F	probably damaging	Het
Dcun1d1	A	G	3: 35,951,940 (GRCm39)		probably null	Het
Dennd2d	T	A	3: 106,398,579 (GRCm39)	M188K	probably benign	Het
Dmgdh	A	G	13: 93,845,354 (GRCm39)		probably null	Het
Efl1	T	A	7: 82,330,652 (GRCm39)	M275K	probably benign	Het
Erp29	G	T	5: 121,583,392 (GRCm39)	A178D	probably benign	Het
Fbn1	T	C	2: 125,308,594 (GRCm39)	N156S	possibly damaging	Het
Frrs1	C	T	3: 116,675,426 (GRCm39)	T118I	probably damaging	Het
Frrs1l	A	G	4: 56,968,230 (GRCm39)	W181R	probably benign	Het
Gprc5b	C	A	7: 118,583,482 (GRCm39)	W129L	probably damaging	Het
Hoxc9	A	G	15: 102,890,593 (GRCm39)	H170R	probably benign	Het
Il12rb2	C	T	6: 67,333,617 (GRCm39)	D221N	probably benign	Het
Lmo1	T	C	7: 108,742,819 (GRCm39)	N28S	probably benign	Het
Lrrfip2	T	A	9: 111,006,525 (GRCm39)		probably null	Het
Macf1	A	T	4: 123,400,130 (GRCm39)	F722I	probably damaging	Het
Mical1	T	C	10: 41,355,772 (GRCm39)		probably null	Het
Mtcl3	A	G	10: 29,073,240 (GRCm39)	Y844C	probably damaging	Het
Mup21	A	G	4: 62,068,468 (GRCm39)	V66A	probably benign	Het
Nav2	C	A	7: 49,111,672 (GRCm39)	A726D	possibly damaging	Het
Nbeal1	G	C	1: 60,276,310 (GRCm39)	V684L	probably benign	Het
Nudt21	A	T	8: 94,746,227 (GRCm39)	V157D	probably benign	Het
Numa1	T	C	7: 101,639,806 (GRCm39)	I52T	possibly damaging	Het
Obscn	T	C	11: 58,946,442 (GRCm39)	D4421G	probably benign	Het
Oog3	T	C	4: 143,886,801 (GRCm39)	I106M	probably benign	Het
Or10g9	A	T	9: 39,912,106 (GRCm39)	V139E	probably benign	Het
Or2g25	T	C	17: 37,970,403 (GRCm39)	T274A	possibly damaging	Het
Or2z9	T	C	8: 72,853,793 (GRCm39)	L63P	probably damaging	Het
Or51f1	T	A	7: 102,505,706 (GRCm39)	Y261F	probably damaging	Het
Or5w20	T	G	2: 87,726,755 (GRCm39)	C71G	possibly damaging	Het
Orai2	T	A	5: 136,179,437 (GRCm39)	I199F	probably damaging	Het
P2rx5	C	A	11: 73,055,692 (GRCm39)	L50M	probably damaging	Het
Pdia2	T	C	17: 26,416,634 (GRCm39)	E215G	possibly damaging	Het
Pds5a	A	T	5: 65,823,570 (GRCm39)	S74T	possibly damaging	Het
Phlpp2	A	G	8: 110,666,785 (GRCm39)	S1105G	probably damaging	Het
Pi4kb	T	A	3: 94,891,888 (GRCm39)	D189E	probably benign	Het
Pigw	G	A	11: 84,768,585 (GRCm39)	T248M	probably damaging	Het
Pnlip	T	A	19: 58,670,134 (GRCm39)	V458D	probably damaging	Het
Ppm1l	G	A	3: 69,225,044 (GRCm39)	V49I	probably benign	Het
Prl3b1	T	A	13: 27,426,473 (GRCm39)	M1K	probably null	Het
Rad1	T	A	15: 10,493,367 (GRCm39)	C265S	probably benign	Het
Rnaset2b	C	T	17: 7,265,427 (GRCm39)	S237F	probably benign	Het
Rtl1	C	T	12: 109,561,672 (GRCm39)	A56T	unknown	Het
S1pr2	T	C	9: 20,879,238 (GRCm39)	I197V	probably benign	Het
Smyd4	A	G	11: 75,281,082 (GRCm39)	Q185R	probably benign	Het
Sox5	T	A	6: 144,100,759 (GRCm39)	T77S	probably benign	Het
Sox7	A	G	14: 64,185,291 (GRCm39)	Y109C	probably damaging	Het
Styxl2	C	T	1: 165,954,676 (GRCm39)	V25I	probably damaging	Het
Tln1	G	A	4: 43,545,922 (GRCm39)	R898C	probably damaging	Het
Tmprss11b	T	A	5: 86,812,173 (GRCm39)	E158V	probably damaging	Het
Tnpo3	C	A	6: 29,562,875 (GRCm39)	R614L	possibly damaging	Het
Vmn2r100	T	A	17: 19,742,296 (GRCm39)	D223E	probably benign	Het
Zc3h12d	A	T	10: 7,743,345 (GRCm39)	M372L	probably benign	Het
Zfp28	G	T	7: 6,386,593 (GRCm39)		probably benign	Het
Zfp963	A	T	8: 70,195,759 (GRCm39)	H231Q	probably damaging	Het
Zscan4b	A	G	7: 10,634,867 (GRCm39)	S459P	probably benign	Het

Other mutations in Mtmr11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02539:Mtmr11	APN	3	96,072,308 (GRCm39)	intron	probably benign
R1017:Mtmr11	UTSW	3	96,071,794 (GRCm39)	missense	probably damaging	1.00
R1589:Mtmr11	UTSW	3	96,075,429 (GRCm39)	missense	probably benign	0.16
R1836:Mtmr11	UTSW	3	96,072,103 (GRCm39)	missense	probably damaging	0.98
R2264:Mtmr11	UTSW	3	96,076,413 (GRCm39)	missense	possibly damaging	0.53
R3623:Mtmr11	UTSW	3	96,072,583 (GRCm39)	missense	probably damaging	1.00
R4195:Mtmr11	UTSW	3	96,075,207 (GRCm39)	splice site	probably benign
R4243:Mtmr11	UTSW	3	96,075,393 (GRCm39)	missense	probably damaging	1.00
R4245:Mtmr11	UTSW	3	96,075,393 (GRCm39)	missense	probably damaging	1.00
R4414:Mtmr11	UTSW	3	96,075,207 (GRCm39)	splice site	probably benign
R4417:Mtmr11	UTSW	3	96,075,207 (GRCm39)	splice site	probably benign
R4461:Mtmr11	UTSW	3	96,075,207 (GRCm39)	splice site	probably benign
R4468:Mtmr11	UTSW	3	96,075,207 (GRCm39)	splice site	probably benign
R4963:Mtmr11	UTSW	3	96,070,567 (GRCm39)	intron	probably benign
R5134:Mtmr11	UTSW	3	96,077,223 (GRCm39)	missense	probably damaging	1.00
R5154:Mtmr11	UTSW	3	96,071,636 (GRCm39)	missense	probably benign	0.03
R5508:Mtmr11	UTSW	3	96,071,084 (GRCm39)	missense	probably damaging	1.00
R5821:Mtmr11	UTSW	3	96,075,185 (GRCm39)	missense	possibly damaging	0.91
R5868:Mtmr11	UTSW	3	96,078,518 (GRCm39)	missense	possibly damaging	0.65
R5991:Mtmr11	UTSW	3	96,075,905 (GRCm39)	splice site	probably null
R6084:Mtmr11	UTSW	3	96,075,400 (GRCm39)	missense	probably damaging	0.99
R6354:Mtmr11	UTSW	3	96,075,992 (GRCm39)	missense	probably benign	0.07
R6446:Mtmr11	UTSW	3	96,078,504 (GRCm39)	missense	probably benign	0.00
R6821:Mtmr11	UTSW	3	96,077,723 (GRCm39)	missense	probably benign
R7033:Mtmr11	UTSW	3	96,077,262 (GRCm39)	missense	probably damaging	1.00
R7878:Mtmr11	UTSW	3	96,076,515 (GRCm39)	missense	probably benign	0.00
R7899:Mtmr11	UTSW	3	96,077,744 (GRCm39)	missense	probably damaging	1.00
R8479:Mtmr11	UTSW	3	96,071,051 (GRCm39)	missense	probably damaging	1.00
R8923:Mtmr11	UTSW	3	96,072,188 (GRCm39)	missense	probably damaging	1.00
R9376:Mtmr11	UTSW	3	96,072,372 (GRCm39)	missense	probably benign
R9708:Mtmr11	UTSW	3	96,076,403 (GRCm39)	missense	possibly damaging	0.93
X0019:Mtmr11	UTSW	3	96,071,809 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAGTTGGTAAGCGACGATGC -3'
(R):5'- ACAAGGATGTTACTTTGGAAAGACC -3'

Sequencing Primer
(F):5'- GCGACGATGCTTTAGGTCAAG -3'
(R):5'- TGGAAAGACCACTCCAAGAGATCTTG -3'

Posted On

2019-06-26