Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01134:Mtmr4'

52363

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 #

IGL01134

Quality Score

Status

Chromosome

Chromosomal Location

87482988-87507128 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 87494893 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 395 (T395M)

Ref Sequence

ENSEMBL: ENSMUSP00000112902 (fasta)

Gene Model

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

AlphaFold

Q91XS1

Predicted Effect

probably damaging
Transcript: ENSMUST00000092802
AA Change: T395M

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000090478
Gene: ENSMUSG00000018401
AA Change: T395M

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: T395M

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000099468
Gene: ENSMUSG00000018401
AA Change: T395M

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: T395M

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000112902
Gene: ENSMUSG00000018401
AA Change: T395M

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: ENSMUST00000134216

SMART Domains

Protein: ENSMUSP00000119660
Gene: ENSMUSG00000018401

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110038F14Rik	G	A	15: 76,834,475 (GRCm39)	V124I	probably damaging	Het
Acaca	T	G	11: 84,142,105 (GRCm39)	H637Q	probably benign	Het
Aen	G	A	7: 78,557,050 (GRCm39)	M299I	probably damaging	Het
Akap6	C	A	12: 52,984,000 (GRCm39)	A848E	probably damaging	Het
Cxxc4	A	G	3: 133,946,420 (GRCm39)	I334V	probably null	Het
Cyp2b13	T	A	7: 25,781,125 (GRCm39)	I179N	probably damaging	Het
Cyp2d40	C	A	15: 82,645,102 (GRCm39)	A183S	unknown	Het
Cyp2g1	A	G	7: 26,509,256 (GRCm39)	N110S	probably benign	Het
F5	A	T	1: 164,019,548 (GRCm39)	R674S	possibly damaging	Het
Fnip2	G	T	3: 79,419,810 (GRCm39)	Y155*	probably null	Het
Fut9	G	T	4: 25,620,446 (GRCm39)	Q123K	probably benign	Het
Gda	A	G	19: 21,394,429 (GRCm39)	S143P	probably damaging	Het
Gpr162	T	C	6: 124,835,820 (GRCm39)		probably null	Het
Hsf2bp	A	G	17: 32,206,378 (GRCm39)	L251S	probably damaging	Het
Hsh2d	A	T	8: 72,947,375 (GRCm39)	D24V	probably damaging	Het
Htr1f	T	A	16: 64,746,501 (GRCm39)	T264S	probably benign	Het
Med12l	G	A	3: 58,949,696 (GRCm39)	E151K	possibly damaging	Het
Mgat3	C	A	15: 80,096,377 (GRCm39)	N401K	probably benign	Het
Mmp27	T	G	9: 7,573,298 (GRCm39)	M130R	probably benign	Het
Mroh2b	T	A	15: 4,944,634 (GRCm39)	S412T	probably benign	Het
Mrps9	A	G	1: 42,942,557 (GRCm39)	I338M	probably damaging	Het
Nlrp9b	A	G	7: 19,757,112 (GRCm39)	I116M	probably benign	Het
Nqo1	T	C	8: 108,115,587 (GRCm39)	D230G	probably benign	Het
Pcnx2	C	T	8: 126,589,889 (GRCm39)	V795I	probably benign	Het
Pde8a	G	A	7: 80,968,826 (GRCm39)	R449Q	possibly damaging	Het
Scn9a	A	G	2: 66,335,312 (GRCm39)	Y1226H	probably damaging	Het
Sema3e	A	G	5: 14,302,784 (GRCm39)	R770G	probably damaging	Het
Smr2	T	C	5: 88,256,378 (GRCm39)	S19P	probably damaging	Het
Trank1	T	C	9: 111,220,849 (GRCm39)	S2529P	probably benign	Het
Uspl1	T	A	5: 149,141,103 (GRCm39)	F367L	probably damaging	Het
Vps41	A	G	13: 19,050,320 (GRCm39)	S838G	probably benign	Het
Ythdf2	A	T	4: 131,932,789 (GRCm39)	F124I	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
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
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

2013-06-21