Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03049:Mtmr4'

408990

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mtmr4

Ensembl Gene

ENSMUSG00000018401

Gene Name

myotubularin related protein 4

Synonyms

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

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.299) question?

Stock #

IGL03049

Quality Score

Status

Chromosome

Chromosomal Location

87482988-87507128 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 87505060 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 1185 (I1185N)

Ref Sequence

ENSEMBL: ENSMUSP00000112902 (fasta)

Gene Model

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

AlphaFold

Q91XS1

Predicted Effect

probably damaging
Transcript: ENSMUST00000092802
AA Change: I1128N

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

SMART Domains

Protein: ENSMUSP00000090478
Gene: ENSMUSG00000018401
AA Change: I1128N

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

probably damaging
Transcript: ENSMUST00000103179
AA Change: I1185N

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

SMART Domains

Protein: ENSMUSP00000099468
Gene: ENSMUSG00000018401
AA Change: I1185N

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: I1185N

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

SMART Domains

Protein: ENSMUSP00000112902
Gene: ENSMUSG00000018401
AA Change: I1185N

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgef19	A	G	4: 140,981,627 (GRCm39)	H645R	probably damaging	Het
Asic5	A	G	3: 81,904,256 (GRCm39)		probably benign	Het
Atp6v0a2	T	C	5: 124,789,845 (GRCm39)	F424L	probably damaging	Het
Clca4a	A	T	3: 144,676,516 (GRCm39)		probably benign	Het
Eif3k	A	G	7: 28,670,858 (GRCm39)	S178P	possibly damaging	Het
Elp2	C	T	18: 24,764,516 (GRCm39)	T621I	probably benign	Het
Exoc3l4	T	C	12: 111,389,835 (GRCm39)	S137P	probably damaging	Het
Gm14393	C	A	2: 174,903,581 (GRCm39)	G109C	probably damaging	Het
Gp2	A	G	7: 119,049,517 (GRCm39)	V340A	possibly damaging	Het
Hic2	A	G	16: 17,075,800 (GRCm39)	S210G	probably benign	Het
Lcn3	T	A	2: 25,655,586 (GRCm39)	M1K	probably null	Het
Ldlr	A	G	9: 21,657,115 (GRCm39)	E692G	probably benign	Het
Ly75	T	C	2: 60,182,414 (GRCm39)	N587S	probably damaging	Het
Msh2	T	C	17: 88,015,937 (GRCm39)	F523S	probably damaging	Het
Ncoa6	T	A	2: 155,260,934 (GRCm39)	K519N	probably damaging	Het
Or4c103	C	T	2: 88,513,834 (GRCm39)	V81M	possibly damaging	Het
Or52z14	A	T	7: 103,253,298 (GRCm39)	I146F	probably damaging	Het
Or7c70	T	A	10: 78,683,356 (GRCm39)	H131L	possibly damaging	Het
Ppp1r13b	T	C	12: 111,799,663 (GRCm39)	T705A	probably benign	Het
Ripor1	A	G	8: 106,342,079 (GRCm39)	D119G	probably damaging	Het
Scn10a	A	G	9: 119,495,056 (GRCm39)	V395A	probably damaging	Het
Slc18b1	T	C	10: 23,698,844 (GRCm39)	V338A	probably benign	Het
Usp10	A	G	8: 120,683,366 (GRCm39)	T746A	probably benign	Het

Other mutations in Mtmr4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00337:Mtmr4	APN	11	87,502,750 (GRCm39)	missense	probably benign	0.29
IGL01134:Mtmr4	APN	11	87,494,893 (GRCm39)	missense	probably damaging	1.00
IGL01317:Mtmr4	APN	11	87,493,230 (GRCm39)	unclassified	probably benign
IGL01544:Mtmr4	APN	11	87,488,437 (GRCm39)	splice site	probably benign
IGL01574:Mtmr4	APN	11	87,491,473 (GRCm39)	missense	probably benign	0.01
IGL01807:Mtmr4	APN	11	87,494,976 (GRCm39)	missense	possibly damaging	0.55
IGL02059:Mtmr4	APN	11	87,491,950 (GRCm39)	missense	possibly damaging	0.66
IGL03196:Mtmr4	APN	11	87,491,609 (GRCm39)	missense	possibly damaging	0.92
IGL03214:Mtmr4	APN	11	87,488,519 (GRCm39)	missense	probably damaging	1.00
IGL03258:Mtmr4	APN	11	87,502,829 (GRCm39)	missense	possibly damaging	0.63
Hippie	UTSW	11	87,504,309 (GRCm39)	missense	probably damaging	1.00
incharge	UTSW	11	87,501,868 (GRCm39)	nonsense	probably null
PIT4802001:Mtmr4	UTSW	11	87,501,953 (GRCm39)	missense	probably benign
R0009:Mtmr4	UTSW	11	87,502,334 (GRCm39)	missense	probably benign	0.02
R0564:Mtmr4	UTSW	11	87,489,714 (GRCm39)	missense	probably damaging	1.00
R0637:Mtmr4	UTSW	11	87,501,890 (GRCm39)	missense	probably benign	0.30
R0780:Mtmr4	UTSW	11	87,502,266 (GRCm39)	missense	probably benign	0.03
R1490:Mtmr4	UTSW	11	87,503,051 (GRCm39)	missense	probably damaging	1.00
R1550:Mtmr4	UTSW	11	87,504,342 (GRCm39)	missense	probably damaging	1.00
R1777:Mtmr4	UTSW	11	87,493,656 (GRCm39)	missense	probably damaging	1.00
R1828:Mtmr4	UTSW	11	87,502,943 (GRCm39)	missense	probably benign	0.26
R2040:Mtmr4	UTSW	11	87,495,916 (GRCm39)	missense	probably damaging	1.00
R2088:Mtmr4	UTSW	11	87,501,793 (GRCm39)	missense	probably damaging	0.98
R2497:Mtmr4	UTSW	11	87,491,649 (GRCm39)	missense	probably damaging	1.00
R2993:Mtmr4	UTSW	11	87,495,823 (GRCm39)	missense	probably damaging	1.00
R3857:Mtmr4	UTSW	11	87,488,088 (GRCm39)	missense	probably damaging	0.98
R3858:Mtmr4	UTSW	11	87,488,088 (GRCm39)	missense	probably damaging	0.98
R4614:Mtmr4	UTSW	11	87,501,761 (GRCm39)	missense	probably damaging	0.99
R4615:Mtmr4	UTSW	11	87,501,761 (GRCm39)	missense	probably damaging	0.99
R4616:Mtmr4	UTSW	11	87,501,761 (GRCm39)	missense	probably damaging	0.99
R4816:Mtmr4	UTSW	11	87,494,923 (GRCm39)	missense	probably damaging	1.00
R5454:Mtmr4	UTSW	11	87,501,868 (GRCm39)	nonsense	probably null
R5502:Mtmr4	UTSW	11	87,504,904 (GRCm39)	missense	probably damaging	1.00
R5566:Mtmr4	UTSW	11	87,495,356 (GRCm39)	missense	probably damaging	1.00
R5833:Mtmr4	UTSW	11	87,495,875 (GRCm39)	nonsense	probably null
R5907:Mtmr4	UTSW	11	87,502,876 (GRCm39)	missense	probably damaging	0.99
R5980:Mtmr4	UTSW	11	87,494,977 (GRCm39)	missense	probably damaging	1.00
R6077:Mtmr4	UTSW	11	87,501,845 (GRCm39)	missense	probably damaging	1.00
R6434:Mtmr4	UTSW	11	87,504,309 (GRCm39)	missense	probably damaging	1.00
R6521:Mtmr4	UTSW	11	87,504,353 (GRCm39)	missense	possibly damaging	0.86
R7141:Mtmr4	UTSW	11	87,491,439 (GRCm39)	missense	probably damaging	1.00
R7182:Mtmr4	UTSW	11	87,495,431 (GRCm39)	critical splice donor site	probably null
R7290:Mtmr4	UTSW	11	87,502,063 (GRCm39)	missense	probably benign
R7350:Mtmr4	UTSW	11	87,491,476 (GRCm39)	missense	probably damaging	0.98
R7392:Mtmr4	UTSW	11	87,495,383 (GRCm39)	missense	probably damaging	1.00
R7447:Mtmr4	UTSW	11	87,502,727 (GRCm39)	missense	probably damaging	1.00
R7530:Mtmr4	UTSW	11	87,502,702 (GRCm39)	missense	probably damaging	1.00
R7660:Mtmr4	UTSW	11	87,495,406 (GRCm39)	missense	probably damaging	0.99
R7713:Mtmr4	UTSW	11	87,488,550 (GRCm39)	missense	probably damaging	1.00
R7823:Mtmr4	UTSW	11	87,503,015 (GRCm39)	missense	probably damaging	1.00
R7944:Mtmr4	UTSW	11	87,495,254 (GRCm39)	missense	probably damaging	1.00
R7945:Mtmr4	UTSW	11	87,495,254 (GRCm39)	missense	probably damaging	1.00
R8010:Mtmr4	UTSW	11	87,489,690 (GRCm39)	missense	probably damaging	1.00
R8116:Mtmr4	UTSW	11	87,502,756 (GRCm39)	nonsense	probably null
R8544:Mtmr4	UTSW	11	87,502,735 (GRCm39)	missense	possibly damaging	0.86
R8559:Mtmr4	UTSW	11	87,494,950 (GRCm39)	missense	probably damaging	1.00
R8971:Mtmr4	UTSW	11	87,493,626 (GRCm39)	missense	probably benign	0.13
R9562:Mtmr4	UTSW	11	87,493,241 (GRCm39)	missense	probably damaging	1.00
R9673:Mtmr4	UTSW	11	87,504,916 (GRCm39)	missense	probably damaging	1.00
R9673:Mtmr4	UTSW	11	87,503,138 (GRCm39)	missense	probably damaging	1.00
R9797:Mtmr4	UTSW	11	87,494,962 (GRCm39)	missense	probably damaging	1.00
X0062:Mtmr4	UTSW	11	87,502,651 (GRCm39)	missense	probably damaging	0.99
Z1177:Mtmr4	UTSW	11	87,502,706 (GRCm39)	missense	probably benign	0.41

Posted On

2016-08-02