Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03196:Mtmr4'

412817

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mtmr4

Ensembl Gene

ENSMUSG00000018401

Gene Name

myotubularin related protein 4

Synonyms

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

Accession Numbers

Essential gene?

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

Stock #

IGL03196

Quality Score

Status

Chromosome

Chromosomal Location

87592162-87616302 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 87600783 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 155 (I155N)

Ref Sequence

ENSEMBL: ENSMUSP00000112902 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000092802] [ENSMUST00000103179] [ENSMUST00000119628] [ENSMUST00000123105] [ENSMUST00000134216] [ENSMUST00000146871]

AlphaFold

Q91XS1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000092802
AA Change: I155N

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000090478
Gene: ENSMUSG00000018401
AA Change: I155N

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

possibly damaging
Transcript: ENSMUST00000103179
AA Change: I155N

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000099468
Gene: ENSMUSG00000018401
AA Change: I155N

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: I155N

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000112902
Gene: ENSMUSG00000018401
AA Change: I155N

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

Predicted Effect

probably benign
Transcript: ENSMUST00000123105

Predicted Effect

possibly damaging
Transcript: ENSMUST00000134216
AA Change: I169N

PolyPhen 2 Score 0.822 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000119660
Gene: ENSMUSG00000018401
AA Change: I169N

Domain	Start	End	E-Value	Type
Pfam:Myotub-related	140	204	6.4e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000146871

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003E16Rik	T	C	6: 83,161,063	V57A	probably damaging	Het
2410089E03Rik	A	T	15: 8,201,342	K1034N	probably damaging	Het
Adck1	T	C	12: 88,431,115	V173A	probably damaging	Het
Adgrv1	C	A	13: 81,446,478	R4139L	probably benign	Het
Aqp4	T	G	18: 15,393,509	D305A	probably benign	Het
Cadm1	T	C	9: 47,799,377	S193P	possibly damaging	Het
Ccdc88a	T	C	11: 29,482,340	S377P	possibly damaging	Het
Clic5	C	A	17: 44,242,073	H71Q	possibly damaging	Het
Col20a1	G	A	2: 181,007,878		probably null	Het
Col5a1	A	G	2: 27,975,598	D759G	unknown	Het
Cpt1b	A	G	15: 89,424,395	V110A	probably benign	Het
Cts8	C	T	13: 61,253,458	G85S	probably benign	Het
Cul5	T	A	9: 53,625,880	M551L	probably damaging	Het
Eno1b	T	A	18: 48,047,491	D245E	probably damaging	Het
Fgf1	A	T	18: 38,841,975	Y140*	probably null	Het
Flt1	A	G	5: 147,615,127		probably null	Het
Fndc7	A	G	3: 108,883,444	Y89H	probably damaging	Het
Gm3127	A	T	14: 4,172,510	M254L	probably benign	Het
Gm5849	T	C	3: 90,777,782	E32G	probably damaging	Het
Gys1	T	C	7: 45,454,817		probably benign	Het
Hdgfl2	T	C	17: 56,093,607	V125A	probably benign	Het
Hypm	A	G	X: 9,847,110	Q27R	possibly damaging	Het
Igkv6-32	C	T	6: 70,074,058	V105I	probably benign	Het
Lmo3	T	C	6: 138,365,995	T140A	probably benign	Het
Marf1	A	G	16: 14,140,259	V793A	possibly damaging	Het
Mep1b	A	C	18: 21,095,064	I575L	probably benign	Het
Muc2	T	C	7: 141,747,630	F361L	probably damaging	Het
Ncoa7	T	A	10: 30,647,514		probably benign	Het
Nme6	C	T	9: 109,841,493	R71W	probably damaging	Het
Olfr1015	G	A	2: 85,786,021	G170D	possibly damaging	Het
Olfr1158	A	T	2: 87,990,482	I124F	possibly damaging	Het
Olfr504	T	C	7: 108,564,854	S314G	probably benign	Het
Osbpl9	C	T	4: 109,072,864	V357I	probably damaging	Het
Ppp4r3a	A	G	12: 101,049,654		probably benign	Het
Rnf216	T	C	5: 143,081,011	R474G	probably damaging	Het
Rpp25l	A	G	4: 41,712,541	V78A	possibly damaging	Het
Sh3bp2	C	A	5: 34,557,343	P245Q	probably damaging	Het
Slc33a1	A	G	3: 63,963,730	F154S	possibly damaging	Het
Wasf2	T	A	4: 133,194,421	S284T	unknown	Het
Wdtc1	T	C	4: 133,295,337	E566G	probably damaging	Het
Zcchc14	C	T	8: 121,609,138		probably benign	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
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
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

Posted On

2016-08-02