Mutagenetix > Incidental Mutations

Incidental Mutation 'R6084:Mtmr11'

482365

Institutional Source

Beutler Lab

Gene Symbol

Mtmr11

Ensembl Gene

ENSMUSG00000045934

Gene Name

myotubularin related protein 11

Synonyms

MMRRC Submission

044243-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.149) question?

Stock #

R6084 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

96162004-96171718 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 96168084 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 360 (R360L)

Ref Sequence

ENSEMBL: ENSMUSP00000062341 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054356] [ENSMUST00000076372] [ENSMUST00000129925]

AlphaFold

Q3V1L6

Predicted Effect

probably damaging
Transcript: ENSMUST00000054356
AA Change: R360L

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000062341
Gene: ENSMUSG00000045934
AA Change: R360L

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: ENSMUST00000076372

SMART Domains

Protein: ENSMUSP00000075709
Gene: ENSMUSG00000068856

Domain	Start	End	E-Value	Type
RRM	14	87	1.46e-25	SMART
RRM	101	175	5.07e-25	SMART
low complexity region	214	307	N/A	INTRINSIC
low complexity region	310	423	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123520

Predicted Effect

probably benign
Transcript: ENSMUST00000129925

SMART Domains

Protein: ENSMUSP00000118258
Gene: ENSMUSG00000045934

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147245

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152763

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153977

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154955

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180958

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196004

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199721

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arap2	T	C	5: 62,670,954	D958G	possibly damaging	Het
Bag4	T	C	8: 25,771,231	T161A	probably benign	Het
Bora	A	T	14: 99,062,294	Q234L	possibly damaging	Het
Cacna2d2	T	C	9: 107,497,521		probably null	Het
Cass4	G	T	2: 172,426,912	A307S	probably benign	Het
Cbln4	A	T	2: 172,042,096	V68E	probably damaging	Het
Cc2d2a	T	A	5: 43,668,673	N2K	probably benign	Het
Ccnf	T	A	17: 24,231,837	D389V	probably damaging	Het
Cdipt	T	C	7: 126,979,601	S161P	probably benign	Het
Ceacam19	T	C	7: 19,882,887	I161V	probably benign	Het
Cfap65	A	G	1: 74,920,405	I862T	probably damaging	Het
Cfi	T	A	3: 129,858,370	L230Q	probably benign	Het
Chac2	G	A	11: 30,986,159	R30W	probably damaging	Het
Cmc2	G	A	8: 116,889,827		probably benign	Het
Col1a2	A	T	6: 4,505,840	M1L	probably benign	Het
Cox8a	C	A	19: 7,217,418	R32L	possibly damaging	Het
Cubn	T	A	2: 13,430,897	N1083Y	probably damaging	Het
D430042O09Rik	G	A	7: 125,814,865	G394R	probably benign	Het
D630003M21Rik	T	C	2: 158,217,584	D132G	probably damaging	Het
Dedd2	G	A	7: 25,211,290	P154S	probably benign	Het
Dnaaf3	T	C	7: 4,524,213	D358G	probably benign	Het
Dysf	T	A	6: 84,019,604	F29L	probably damaging	Het
Dysf	T	C	6: 84,112,119	L888P	probably damaging	Het
Ebf4	A	G	2: 130,309,723	D277G	probably damaging	Het
Ecm2	T	A	13: 49,515,094	L91*	probably null	Het
Foxs1	T	C	2: 152,932,842	D97G	possibly damaging	Het
Frs2	A	C	10: 117,076,809		probably null	Het
Gm6768	A	G	12: 119,261,651		noncoding transcript	Het
Grp	A	T	18: 65,879,937	D58V	probably damaging	Het
Hif1a	T	G	12: 73,941,842	F537C	probably damaging	Het
Icam4	G	A	9: 21,029,539	S29N	probably benign	Het
Itfg1	T	C	8: 85,726,170	E523G	probably benign	Het
Jph2	T	C	2: 163,375,680	K359E	probably damaging	Het
Kcnq2	A	T	2: 181,087,656	V490E	possibly damaging	Het
Klhl18	C	T	9: 110,428,727	M548I	possibly damaging	Het
Lpin3	A	G	2: 160,895,801	Y197C	probably benign	Het
Lrp1	T	C	10: 127,560,553	N2381D	probably benign	Het
Man1a	A	T	10: 53,919,211	W649R	probably damaging	Het
Map4	T	C	9: 110,064,292	L542P	probably damaging	Het
Mboat2	A	T	12: 24,878,285	H52L	probably damaging	Het
Mok	C	G	12: 110,814,946	S91T	probably benign	Het
Myt1l	G	A	12: 29,832,332	G509R	unknown	Het
Olfr1288	A	T	2: 111,479,389	N202Y	probably damaging	Het
Olfr341	A	G	2: 36,479,512	V206A	probably benign	Het
Olfr544	T	C	7: 102,484,389	T244A	probably damaging	Het
Olfr67	C	T	7: 103,787,955	M107I	probably benign	Het
Olfr836	A	G	9: 19,121,327	D121G	probably damaging	Het
Olfr867	A	T	9: 20,054,883	H75Q	possibly damaging	Het
Padi3	G	T	4: 140,795,843	T292N	probably damaging	Het
Pard6g	A	C	18: 80,117,205	T178P	possibly damaging	Het
Pkd1l2	A	T	8: 117,013,987	Y2124N	probably damaging	Het
Plxdc1	G	A	11: 97,928,463	T398I	probably damaging	Het
Prickle2	A	T	6: 92,416,848	C225*	probably null	Het
Prmt2	G	A	10: 76,210,444	T317I	probably benign	Het
Psg22	T	G	7: 18,719,780	N172K	probably benign	Het
Ptpn9	C	T	9: 57,033,163	R196*	probably null	Het
Rap1b	C	T	10: 117,824,611	V14I	probably damaging	Het
Rapgef4	T	A	2: 72,196,278		probably null	Het
Rlf	A	T	4: 121,149,215	M856K	possibly damaging	Het
Rnf149	A	G	1: 39,577,174	L34P	probably benign	Het
Rock1	T	C	18: 10,101,007	E636G	probably benign	Het
Rsad2	A	T	12: 26,454,123	Y136N	probably damaging	Het
Ryr3	T	C	2: 112,908,493	H563R	probably damaging	Het
Slc18b1	A	G	10: 23,804,212	M102V	probably benign	Het
Slc34a2	T	A	5: 53,067,647	C377S	possibly damaging	Het
Slco1c1	T	C	6: 141,546,770	V293A	probably benign	Het
Spidr	A	T	16: 16,140,024	S80T	possibly damaging	Het
Syne1	C	T	10: 5,348,994	E1031K	probably damaging	Het
Synj2	G	A	17: 6,017,614	V121I	probably damaging	Het
Synj2	A	T	17: 6,038,098	T1430S	probably damaging	Het
Tecpr2	G	T	12: 110,929,109	K343N	probably damaging	Het
Tmem132d	T	A	5: 127,784,100	I986F	probably benign	Het
Trib1	G	A	15: 59,654,475	R298H	probably damaging	Het
Ttll10	T	A	4: 156,045,357	D283V	probably benign	Het
Ttn	T	A	2: 76,814,779	K673*	probably null	Het
Ubqlnl	T	A	7: 104,148,698	M531L	probably benign	Het
Vmn2r120	A	T	17: 57,525,721	W153R	probably benign	Het
Vmn2r2	A	C	3: 64,117,046	S705A	probably benign	Het
Vmn2r32	T	A	7: 7,464,210	D773V	probably benign	Het
Vmn2r54	T	A	7: 12,632,278	Q243L	probably damaging	Het
Wdr24	C	A	17: 25,824,530	R109S	probably damaging	Het
Zfp113	T	C	5: 138,145,668	M107V	probably benign	Het
Zfp426	G	T	9: 20,470,627	Q341K	possibly damaging	Het
Zfp616	A	T	11: 74,083,846	K314*	probably null	Het

Other mutations in Mtmr11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02539:Mtmr11	APN	3	96164991	intron	probably benign
R1017:Mtmr11	UTSW	3	96164477	missense	probably damaging	1.00
R1589:Mtmr11	UTSW	3	96168113	missense	probably benign	0.16
R1836:Mtmr11	UTSW	3	96164786	missense	probably damaging	0.98
R2264:Mtmr11	UTSW	3	96169097	missense	possibly damaging	0.53
R3623:Mtmr11	UTSW	3	96165266	missense	probably damaging	1.00
R4195:Mtmr11	UTSW	3	96167891	splice site	probably benign
R4243:Mtmr11	UTSW	3	96168077	missense	probably damaging	1.00
R4245:Mtmr11	UTSW	3	96168077	missense	probably damaging	1.00
R4414:Mtmr11	UTSW	3	96167891	splice site	probably benign
R4417:Mtmr11	UTSW	3	96167891	splice site	probably benign
R4461:Mtmr11	UTSW	3	96167891	splice site	probably benign
R4468:Mtmr11	UTSW	3	96167891	splice site	probably benign
R4963:Mtmr11	UTSW	3	96163250	intron	probably benign
R5134:Mtmr11	UTSW	3	96169907	missense	probably damaging	1.00
R5154:Mtmr11	UTSW	3	96164319	missense	probably benign	0.03
R5508:Mtmr11	UTSW	3	96163767	missense	probably damaging	1.00
R5821:Mtmr11	UTSW	3	96167869	missense	possibly damaging	0.91
R5868:Mtmr11	UTSW	3	96171202	missense	possibly damaging	0.65
R5991:Mtmr11	UTSW	3	96168589	splice site	probably null
R6354:Mtmr11	UTSW	3	96168676	missense	probably benign	0.07
R6446:Mtmr11	UTSW	3	96171188	missense	probably benign	0.00
R6821:Mtmr11	UTSW	3	96170407	missense	probably benign
R7033:Mtmr11	UTSW	3	96169946	missense	probably damaging	1.00
R7312:Mtmr11	UTSW	3	96164538	missense	possibly damaging	0.68
R7878:Mtmr11	UTSW	3	96169199	missense	probably benign	0.00
R7899:Mtmr11	UTSW	3	96170428	missense	probably damaging	1.00
R8479:Mtmr11	UTSW	3	96163734	missense	probably damaging	1.00
R8923:Mtmr11	UTSW	3	96164871	missense	probably damaging	1.00
R9376:Mtmr11	UTSW	3	96165055	missense	probably benign
X0019:Mtmr11	UTSW	3	96164492	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GACTATGTCAGGTATGCCTAGCC -3'
(R):5'- AGGATGAATTGGCACTCACAG -3'

Posted On

2017-07-14