Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03258:Mtmr4'

414735

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 #

IGL03258

Quality Score

Status

Chromosome

Chromosomal Location

87482988-87507128 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 87502829 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 961 (H961L)

Ref Sequence

ENSEMBL: ENSMUSP00000112902 (fasta)

Gene Model

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

AlphaFold

Q91XS1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000092802
AA Change: H904L

PolyPhen 2 Score 0.551 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000090478
Gene: ENSMUSG00000018401
AA Change: H904L

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: H961L

PolyPhen 2 Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000099468
Gene: ENSMUSG00000018401
AA Change: H961L

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: H961L

PolyPhen 2 Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000112902
Gene: ENSMUSG00000018401
AA Change: H961L

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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	A	3: 121,931,210 (GRCm39)		probably benign	Het
Adam1b	A	G	5: 121,639,447 (GRCm39)	S533P	possibly damaging	Het
Akr1c6	G	T	13: 4,486,408 (GRCm39)	G72C	probably damaging	Het
Carf	C	T	1: 60,148,388 (GRCm39)	T28I	possibly damaging	Het
Cog1	G	A	11: 113,545,919 (GRCm39)	W398*	probably null	Het
Dmpk	A	G	7: 18,826,131 (GRCm39)		probably null	Het
Dmxl1	T	C	18: 50,053,960 (GRCm39)	V2534A	probably damaging	Het
Fam78b	A	T	1: 166,906,323 (GRCm39)	T161S	probably damaging	Het
Fgd6	A	T	10: 93,969,215 (GRCm39)	T1161S	probably benign	Het
Gpr158	A	T	2: 21,830,085 (GRCm39)	D710V	probably damaging	Het
H2-Q4	A	G	17: 35,599,095 (GRCm39)	I122V	probably benign	Het
Ifi211	A	T	1: 173,733,098 (GRCm39)	C188S	probably benign	Het
Lamc3	A	C	2: 31,777,695 (GRCm39)	S114R	probably damaging	Het
Lrrc57	C	T	2: 120,435,703 (GRCm39)	A239T	probably damaging	Het
Mdga1	A	G	17: 30,058,887 (GRCm39)	Y707H	probably damaging	Het
Ms4a6b	T	G	19: 11,499,072 (GRCm39)	L62R	probably damaging	Het
Myrip	A	G	9: 120,270,418 (GRCm39)	N556S	probably benign	Het
Osgep	T	C	14: 51,155,346 (GRCm39)	T71A	possibly damaging	Het
Plin4	T	C	17: 56,411,371 (GRCm39)	T887A	probably benign	Het
Pwwp2a	T	A	11: 43,595,392 (GRCm39)	F186I	probably benign	Het
Serpina1b	G	T	12: 103,696,655 (GRCm39)	S251R	probably benign	Het
Setd7	T	C	3: 51,467,936 (GRCm39)		probably null	Het
Slc24a5	G	T	2: 124,922,625 (GRCm39)		probably null	Het
Slc25a17	A	G	15: 81,213,243 (GRCm39)		probably benign	Het
Slc5a4a	T	C	10: 75,986,386 (GRCm39)	V98A	possibly damaging	Het
Susd1	A	T	4: 59,379,655 (GRCm39)	I324N	possibly damaging	Het
Tcaf3	A	G	6: 42,566,773 (GRCm39)	L772P	probably damaging	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
IGL03049:Mtmr4	APN	11	87,505,060 (GRCm39)	missense	probably damaging	1.00
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
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