Mutagenetix > Incidental Mutation

Incidental Mutation 'R2088:Mtmr4'

231602

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

040093-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.243) question?

Stock #

R2088 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

87592162-87616302 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 87610967 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 559 (S559P)

Ref Sequence

ENSEMBL: ENSMUSP00000090478 (fasta)

Gene Model

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

AlphaFold

Q91XS1

Predicted Effect

probably damaging
Transcript: ENSMUST00000092802
AA Change: S559P

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000090478
Gene: ENSMUSG00000018401
AA Change: S559P

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: ENSMUST00000103179
AA Change: S616P

PolyPhen 2 Score 0.427 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000099468
Gene: ENSMUSG00000018401
AA Change: S616P

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

probably benign
Transcript: ENSMUST00000119628
AA Change: S616P

PolyPhen 2 Score 0.427 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000112902
Gene: ENSMUSG00000018401
AA Change: S616P

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

Meta Mutation Damage Score

0.0858

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

97% (66/68)

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6030419C18Rik	T	C	9: 58,499,005	F66S	probably damaging	Het
Ankk1	T	C	9: 49,421,965		probably benign	Het
Ano5	T	A	7: 51,587,706	N759K	possibly damaging	Het
Arhgef10	A	G	8: 14,983,898	T1072A	possibly damaging	Het
BC107364	T	C	3: 96,434,429	T93A	unknown	Het
Canx	C	T	11: 50,310,390	E97K	possibly damaging	Het
Casp8ap2	T	C	4: 32,631,126	L62P	probably damaging	Het
Cbfa2t3	C	T	8: 122,637,986		probably benign	Het
Cmya5	A	T	13: 93,092,812	S1923T	probably damaging	Het
Cntnap1	T	A	11: 101,182,547	I618N	probably damaging	Het
Cox17	C	G	16: 38,347,180	P27R	probably damaging	Het
Ctnna3	A	G	10: 64,873,207	E675G	probably damaging	Het
Cul9	A	G	17: 46,526,649	L990P	probably damaging	Het
Dab1	C	T	4: 104,731,751	A524V	probably benign	Het
Eif2d	T	C	1: 131,164,727	V374A	probably damaging	Het
Fhdc1	T	C	3: 84,474,726		probably benign	Het
Fryl	T	A	5: 73,065,461	I1926F	probably benign	Het
Galnt4	A	G	10: 99,109,184	D257G	probably damaging	Het
Gatm	A	G	2: 122,598,148	V344A	probably benign	Het
Gli1	T	G	10: 127,331,500	Y628S	probably damaging	Het
Gpr1	A	T	1: 63,183,652		probably null	Het
Gsdmc3	A	C	15: 63,860,214		probably null	Het
Hap1	T	C	11: 100,356,002	T26A	probably benign	Het
Helz2	C	T	2: 181,235,102	G1200S	probably benign	Het
Iqgap2	C	T	13: 95,891,663		probably null	Het
Itga3	T	A	11: 95,052,494	I895F	probably benign	Het
Klhl33	A	T	14: 50,892,773	C421*	probably null	Het
Klra2	T	C	6: 131,242,826	T131A	probably damaging	Het
Krt14	T	C	11: 100,204,123	E426G	possibly damaging	Het
Limd2	A	G	11: 106,158,742	F107L	probably damaging	Het
Lipo4	A	T	19: 33,500,069	N318K	possibly damaging	Het
Mab21l2	T	G	3: 86,547,009	D228A	probably damaging	Het
Moxd2	G	A	6: 40,884,967	H224Y	probably damaging	Het
Mpp4	T	C	1: 59,123,465	Y521C	possibly damaging	Het
Msto1	C	T	3: 88,910,990	A317T	probably damaging	Het
Muc4	T	A	16: 32,756,409	H2094Q	unknown	Het
Ndufa11	C	A	17: 56,717,922	T28K	probably damaging	Het
Olfr124	A	G	17: 37,805,795	T217A	probably benign	Het
Olfr1289	G	T	2: 111,484,278	A283S	probably damaging	Het
Orai2	C	A	5: 136,150,756	R155L	probably damaging	Het
Pde4c	A	G	8: 70,749,356	D582G	possibly damaging	Het
Pde4dip	T	C	3: 97,754,433	E609G	probably null	Het
Prune2	A	G	19: 17,119,745	D871G	possibly damaging	Het
Rbpms2	T	A	9: 65,630,839	L4Q	probably damaging	Het
Rhbg	T	C	3: 88,247,458	Y213C	probably damaging	Het
Rplp0	T	A	5: 115,562,503	N243K	possibly damaging	Het
Rtp4	A	T	16: 23,613,213	H165L	possibly damaging	Het
Ryr2	C	A	13: 11,662,229	M3245I	probably benign	Het
Sh2b2	T	A	5: 136,232,114	M83L	possibly damaging	Het
Simc1	T	C	13: 54,541,534	I284T	probably damaging	Het
Skp2	C	A	15: 9,113,698	G376C	probably damaging	Het
Slc46a1	T	C	11: 78,468,645	S368P	possibly damaging	Het
St6galnac1	A	G	11: 116,769,107	S127P	probably benign	Het
Tatdn3	A	G	1: 191,052,876	I192T	possibly damaging	Het
Tmem25	C	A	9: 44,796,086	V239F	possibly damaging	Het
Tprkb	A	C	6: 85,932,940		probably benign	Het
Trappc10	A	G	10: 78,196,334	V1040A	probably benign	Het
Txnrd1	G	A	10: 82,883,910		probably benign	Het
Uhrf1	A	T	17: 56,318,089	K544M	probably damaging	Het
Unc80	T	A	1: 66,590,227	H1294Q	possibly damaging	Het
Uspl1	T	A	5: 149,209,750	I437K	probably damaging	Het
Vmn1r232	A	T	17: 20,913,737	N200K	possibly damaging	Het
Vmn2r19	A	T	6: 123,335,836	I622F	probably damaging	Het
Znfx1	A	G	2: 167,055,810	F398S	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
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
R6521:Mtmr4	UTSW	11	87613527	missense	possibly damaging	0.86
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
R7823:Mtmr4	UTSW	11	87612189	missense	probably damaging	1.00
R7944:Mtmr4	UTSW	11	87604428	missense	probably damaging	1.00
R7945:Mtmr4	UTSW	11	87604428	missense	probably damaging	1.00
R8010:Mtmr4	UTSW	11	87598864	missense	probably damaging	1.00
R8116:Mtmr4	UTSW	11	87611930	nonsense	probably null
R8544:Mtmr4	UTSW	11	87611909	missense	possibly damaging	0.86
R8559:Mtmr4	UTSW	11	87604124	missense	probably damaging	1.00
R8971:Mtmr4	UTSW	11	87602800	missense	probably benign	0.13
R9562:Mtmr4	UTSW	11	87602415	missense	probably damaging	1.00
R9673:Mtmr4	UTSW	11	87612312	missense	probably damaging	1.00
R9673:Mtmr4	UTSW	11	87614090	missense	probably damaging	1.00
R9797:Mtmr4	UTSW	11	87604136	missense	probably damaging	1.00
X0062:Mtmr4	UTSW	11	87611825	missense	probably damaging	0.99
Z1177:Mtmr4	UTSW	11	87611880	missense	probably benign	0.41

Predicted Primers

PCR Primer
(F):5'- ATCCTTTGTGCAGAGTAGACTC -3'
(R):5'- GTACTCTTTCTGGCTACTGGGC -3'

Sequencing Primer
(F):5'- AGAGTAGACTCCCGGTGAACTTC -3'
(R):5'- AGGAGGAAGGCCCATTTCTC -3'

Posted On

2014-09-18