Mutagenetix > Incidental Mutations

Incidental Mutation 'R6521:Mtmr4'

521300

Institutional Source

Beutler Lab

Gene Symbol

Mtmr4

Ensembl Gene

ENSMUSG00000018401

Gene Name

myotubularin related protein 4

Synonyms

ZFYVE11, FYVE zinc finger phosphatase, ESTM44, FYVE-DSP2

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.280) question?

Stock #

R6521 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

87592162-87616302 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 87613527 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 1044 (T1044A)

Ref Sequence

ENSEMBL: ENSMUSP00000090478 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000092802] [ENSMUST00000093956] [ENSMUST00000103179] [ENSMUST00000119628]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000092802
AA Change: T1044A

PolyPhen 2 Score 0.862 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000090478
Gene: ENSMUSG00000018401
AA Change: T1044A

Domain	Start	End	E-Value	Type
Pfam:Myotub-related	126	507	4.2e-137	PFAM
low complexity region	933	945	N/A	INTRINSIC
coiled coil region	961	991	N/A	INTRINSIC
FYVE	1044	1113	2.08e-31	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000093956

SMART Domains

Protein: ENSMUSP00000091488
Gene: ENSMUSG00000070345

Domain	Start	End	E-Value	Type
HSF	11	153	2.35e-9	SMART
Blast:HSF	163	423	1e-149	BLAST
low complexity region	442	457	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000103179
AA Change: T1101A

PolyPhen 2 Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000099468
Gene: ENSMUSG00000018401
AA Change: T1101A

Domain	Start	End	E-Value	Type
Pfam:Myotub-related	126	521	8.1e-149	PFAM
low complexity region	990	1002	N/A	INTRINSIC
coiled coil region	1018	1048	N/A	INTRINSIC
FYVE	1101	1170	2.08e-31	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000119628
AA Change: T1101A

PolyPhen 2 Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000112902
Gene: ENSMUSG00000018401
AA Change: T1101A

Domain	Start	End	E-Value	Type
Pfam:Myotub-related	127	519	1.5e-135	PFAM
low complexity region	990	1002	N/A	INTRINSIC
coiled coil region	1018	1048	N/A	INTRINSIC
FYVE	1101	1170	2.08e-31	SMART

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.5%
20x: 92.0%

Validation Efficiency

100% (48/48)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars	T	A	8: 111,043,336	S356T	probably benign	Het
Acsbg2	T	C	17: 56,861,565	M185V	probably benign	Het
Adgrv1	A	T	13: 81,433,652	F4758I	probably damaging	Het
Ank3	A	G	10: 69,992,766		probably benign	Het
Ankfy1	G	A	11: 72,730,482	R198Q	possibly damaging	Het
Ano4	A	G	10: 88,983,778	V537A	probably damaging	Het
Catsper2	A	G	2: 121,406,807	L204P	probably damaging	Het
Cdh20	A	C	1: 104,942,134	D193A	probably damaging	Het
Ceacam5	T	C	7: 17,750,831		probably null	Het
Celf4	T	A	18: 25,479,474		probably null	Het
Crebbp	A	T	16: 4,119,128	F754I	probably damaging	Het
Cyfip2	A	T	11: 46,254,588	I635N	probably damaging	Het
Erbb4	T	A	1: 68,042,530	D1131V	probably damaging	Het
Fsip2	A	G	2: 82,990,086	T5388A	possibly damaging	Het
Hoxc8	G	A	15: 102,992,703	V193M	probably benign	Het
Klhdc3	A	G	17: 46,677,761	V124A	probably benign	Het
Klhl18	A	G	9: 110,428,635	I509T	possibly damaging	Het
Maats1	A	G	16: 38,306,759	V545A	probably benign	Het
Mdfic	T	A	6: 15,729,028		probably benign	Het
Mkln1	T	A	6: 31,490,544	D64E	probably damaging	Het
Mmd2	A	G	5: 142,574,830	I112T	probably damaging	Het
Mpl	C	T	4: 118,455,117		probably null	Het
Muc5b	C	A	7: 141,859,171	Y1951*	probably null	Het
Myo15	C	T	11: 60,502,369	H2240Y	probably damaging	Het
Nckap5	A	T	1: 126,382,172	I74K	probably damaging	Het
Nfxl1	A	T	5: 72,540,308		probably null	Het
Olfr1018	A	T	2: 85,823,450	I160F	probably benign	Het
Olfr1205	A	G	2: 88,831,356	I80V	probably benign	Het
Olfr736	T	C	14: 50,393,548	V264A	possibly damaging	Het
Olfr924	C	T	9: 38,848,597	T161I	probably benign	Het
Piezo2	T	C	18: 63,021,328	Y2460C	probably damaging	Het
Pigx	A	G	16: 32,087,311	L64P	probably damaging	Het
Prss1	C	T	6: 41,463,681	T230I	probably damaging	Het
Ptma	A	G	1: 86,527,847		probably null	Het
Rab39	T	C	9: 53,706,031	T29A	probably benign	Het
Rem2	C	T	14: 54,477,687	A107V	possibly damaging	Het
Senp1	A	G	15: 98,048,271	V531A	probably damaging	Het
Serhl	A	G	15: 83,101,642		probably null	Het
Sirpa	T	G	2: 129,630,155	Y164D	probably damaging	Het
Slc12a3	T	C	8: 94,343,113	I550T	possibly damaging	Het
Slc22a14	T	C	9: 119,220,769		probably null	Het
Slfn5	A	G	11: 82,960,415	N513D	probably damaging	Het
Sptan1	T	C	2: 30,020,455	S1831P	possibly damaging	Het
Swap70	T	C	7: 110,255,820	L109P	probably benign	Het
Tas2r119	G	A	15: 32,178,173	C295Y	probably damaging	Het
Tcaf3	T	A	6: 42,593,238	I527L	probably damaging	Het
Traj31	A	G	14: 54,187,930		probably benign	Het
Unc5a	T	A	13: 55,004,935	D887E	probably benign	Het
Zfp407	T	A	18: 84,432,411	H1600L	probably damaging	Het

Other mutations in Mtmr4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00337:Mtmr4	APN	11	87611924	missense	probably benign	0.29
IGL01134:Mtmr4	APN	11	87604067	missense	probably damaging	1.00
IGL01317:Mtmr4	APN	11	87602404	unclassified	probably benign
IGL01544:Mtmr4	APN	11	87597611	splice site	probably benign
IGL01574:Mtmr4	APN	11	87600647	missense	probably benign	0.01
IGL01807:Mtmr4	APN	11	87604150	missense	possibly damaging	0.55
IGL02059:Mtmr4	APN	11	87601124	missense	possibly damaging	0.66
IGL03049:Mtmr4	APN	11	87614234	missense	probably damaging	1.00
IGL03196:Mtmr4	APN	11	87600783	missense	possibly damaging	0.92
IGL03214:Mtmr4	APN	11	87597693	missense	probably damaging	1.00
IGL03258:Mtmr4	APN	11	87612003	missense	possibly damaging	0.63
Hippie	UTSW	11	87613483	missense	probably damaging	1.00
incharge	UTSW	11	87611042	nonsense	probably null
PIT4802001:Mtmr4	UTSW	11	87611127	missense	probably benign
R0009:Mtmr4	UTSW	11	87611508	missense	probably benign	0.02
R0564:Mtmr4	UTSW	11	87598888	missense	probably damaging	1.00
R0637:Mtmr4	UTSW	11	87611064	missense	probably benign	0.30
R0780:Mtmr4	UTSW	11	87611440	missense	probably benign	0.03
R1490:Mtmr4	UTSW	11	87612225	missense	probably damaging	1.00
R1550:Mtmr4	UTSW	11	87613516	missense	probably damaging	1.00
R1777:Mtmr4	UTSW	11	87602830	missense	probably damaging	1.00
R1828:Mtmr4	UTSW	11	87612117	missense	probably benign	0.26
R2040:Mtmr4	UTSW	11	87605090	missense	probably damaging	1.00
R2088:Mtmr4	UTSW	11	87610967	missense	probably damaging	0.98
R2497:Mtmr4	UTSW	11	87600823	missense	probably damaging	1.00
R2993:Mtmr4	UTSW	11	87604997	missense	probably damaging	1.00
R3857:Mtmr4	UTSW	11	87597262	missense	probably damaging	0.98
R3858:Mtmr4	UTSW	11	87597262	missense	probably damaging	0.98
R4614:Mtmr4	UTSW	11	87610935	missense	probably damaging	0.99
R4615:Mtmr4	UTSW	11	87610935	missense	probably damaging	0.99
R4616:Mtmr4	UTSW	11	87610935	missense	probably damaging	0.99
R4816:Mtmr4	UTSW	11	87604097	missense	probably damaging	1.00
R5454:Mtmr4	UTSW	11	87611042	nonsense	probably null
R5502:Mtmr4	UTSW	11	87614078	missense	probably damaging	1.00
R5566:Mtmr4	UTSW	11	87604530	missense	probably damaging	1.00
R5833:Mtmr4	UTSW	11	87605049	nonsense	probably null
R5907:Mtmr4	UTSW	11	87612050	missense	probably damaging	0.99
R5980:Mtmr4	UTSW	11	87604151	missense	probably damaging	1.00
R6077:Mtmr4	UTSW	11	87611019	missense	probably damaging	1.00
R6434:Mtmr4	UTSW	11	87613483	missense	probably damaging	1.00
R7141:Mtmr4	UTSW	11	87600613	missense	probably damaging	1.00
R7182:Mtmr4	UTSW	11	87604605	critical splice donor site	probably null
R7290:Mtmr4	UTSW	11	87611237	missense	probably benign
R7350:Mtmr4	UTSW	11	87600650	missense	probably damaging	0.98
R7392:Mtmr4	UTSW	11	87604557	missense	probably damaging	1.00
R7447:Mtmr4	UTSW	11	87611901	missense	probably damaging	1.00
R7530:Mtmr4	UTSW	11	87611876	missense	probably damaging	1.00
R7660:Mtmr4	UTSW	11	87604580	missense	probably damaging	0.99
R7713:Mtmr4	UTSW	11	87597724	missense	probably damaging	1.00
X0062:Mtmr4	UTSW	11	87611825	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AGCTTCATAGTATTCAGGTGATGC -3'
(R):5'- CTGCAATCCGGAAAGTAGCC -3'

Sequencing Primer
(F):5'- AGACAACTATTGTGTGGCCC -3'
(R):5'- TAGCCCAAAGGAAACTGGC -3'

Posted On

2018-06-06