Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03214:Mtmr4'

413431

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 #

IGL03214

Quality Score

Status

Chromosome

Chromosomal Location

87592162-87616302 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 87597693 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 58 (Y58H)

Ref Sequence

ENSEMBL: ENSMUSP00000112902 (fasta)

Gene Model

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

AlphaFold

Q91XS1

Predicted Effect

probably damaging
Transcript: ENSMUST00000092802
AA Change: Y58H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000090478
Gene: ENSMUSG00000018401
AA Change: Y58H

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 damaging
Transcript: ENSMUST00000103179
AA Change: Y58H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000099468
Gene: ENSMUSG00000018401
AA Change: Y58H

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 damaging
Transcript: ENSMUST00000119628
AA Change: Y58H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000112902
Gene: ENSMUSG00000018401
AA Change: Y58H

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 damaging
Transcript: ENSMUST00000123105
AA Change: Y58H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000134216
AA Change: Y72H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000119660
Gene: ENSMUSG00000018401
AA Change: Y72H

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000146871
AA Change: Y58H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy1	T	C	11: 7,167,054		probably benign	Het
Asb5	T	C	8: 54,585,063	V207A	probably benign	Het
Atxn3	G	T	12: 101,945,922		probably benign	Het
Brwd1	T	C	16: 96,037,900	D857G	probably benign	Het
Cacna1i	A	G	15: 80,355,716	N322S	probably benign	Het
Dcun1d1	A	T	3: 35,919,071	W92R	probably damaging	Het
Dnah7a	A	C	1: 53,522,209		probably null	Het
Enpep	T	C	3: 129,293,247	D581G	probably benign	Het
Fam135a	G	A	1: 24,053,276	L201F	probably damaging	Het
Gm14496	T	G	2: 182,000,536	L667V	probably damaging	Het
Grk4	T	A	5: 34,752,209	M539K	probably benign	Het
Itpr2	A	G	6: 146,180,244	V2261A	probably benign	Het
Krtap5-2	A	G	7: 142,175,014	S310P	unknown	Het
Mme	A	T	3: 63,329,690	Y232F	possibly damaging	Het
Myh13	T	C	11: 67,353,585	S983P	possibly damaging	Het
Nbas	A	G	12: 13,331,110		probably benign	Het
Neb	T	A	2: 52,197,844	T5448S	possibly damaging	Het
Neb	C	T	2: 52,159,548	G6428R	probably damaging	Het
Olfr1156	T	A	2: 87,950,071	Q54L	probably benign	Het
Olfr31	A	T	14: 14,328,284	M58L	probably damaging	Het
Olfr472	T	C	7: 107,902,966	M83T	probably benign	Het
Olfr598	G	T	7: 103,328,666	S60I	possibly damaging	Het
Olfr699	T	A	7: 106,790,345	I219L	probably benign	Het
Otx2	A	G	14: 48,661,324	I75T	probably damaging	Het
Phex	A	T	X: 157,177,504	N681K	probably damaging	Het
Plekha8	C	A	6: 54,635,770	A454E	probably damaging	Het
Rbfa	C	A	18: 80,197,291	K152N	probably benign	Het
Satb2	C	A	1: 56,845,580	S513I	probably damaging	Het
Slc4a2	G	T	5: 24,434,881	R520L	probably benign	Het
Slfn14	T	C	11: 83,279,000	H606R	probably benign	Het
Smc1b	G	A	15: 85,097,946	Q716*	probably null	Het
Syncrip	C	T	9: 88,464,643		probably benign	Het
Vmn2r30	T	A	7: 7,334,260	I126F	probably benign	Het
Vps13c	C	T	9: 67,897,195	A762V	probably null	Het
Wdr64	C	A	1: 175,743,635		probably benign	Het
Wisp3	T	C	10: 39,153,167	N255S	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
IGL03196:Mtmr4	APN	11	87600783	missense	possibly damaging	0.92
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