Mutagenetix > Incidental Mutation

Incidental Mutation 'R2993:Mtmr4'

257976

Institutional Source

Beutler Lab

Gene Symbol

Mtmr4

Ensembl Gene

ENSMUSG00000018401

Gene Name

myotubularin related protein 4

Synonyms

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

MMRRC Submission

040528-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.237) question?

Stock #

R2993 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

87482988-87507128 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 87495823 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 553 (V553D)

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: V496D

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000090478
Gene: ENSMUSG00000018401
AA Change: V496D

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: V553D

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

SMART Domains

Protein: ENSMUSP00000099468
Gene: ENSMUSG00000018401
AA Change: V553D

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: V553D

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

SMART Domains

Protein: ENSMUSP00000112902
Gene: ENSMUSG00000018401
AA Change: V553D

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

Meta Mutation Damage Score

0.8966

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

100% (34/34)

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003H04Rik	A	G	3: 124,372,184 (GRCm39)	W67R	probably damaging	Het
Abca16	T	C	7: 120,134,384 (GRCm39)	V1377A	probably damaging	Het
Adarb2	A	C	13: 8,763,752 (GRCm39)	I550L	probably benign	Het
Afdn	T	C	17: 14,111,262 (GRCm39)		probably null	Het
Ago1	G	T	4: 126,333,839 (GRCm39)		probably benign	Het
Atp4a	G	A	7: 30,419,650 (GRCm39)	R671Q	probably benign	Het
Cdc7	G	A	5: 107,121,764 (GRCm39)	V226I	probably benign	Het
Cdh15	G	A	8: 123,588,763 (GRCm39)	R279Q	probably damaging	Het
Cyp4a31	G	A	4: 115,427,017 (GRCm39)	V206I	probably benign	Het
Ddx47	G	T	6: 134,995,944 (GRCm39)	R120L	probably damaging	Het
Dnah7a	G	A	1: 53,542,713 (GRCm39)	L2486F	probably damaging	Het
Eif3d	A	G	15: 77,845,905 (GRCm39)	I372T	possibly damaging	Het
Eogt	A	T	6: 97,095,915 (GRCm39)		probably null	Het
Epb42	G	A	2: 120,859,525 (GRCm39)		probably benign	Het
Fbxl2	T	C	9: 113,818,484 (GRCm39)	E159G	possibly damaging	Het
Gabrb2	T	C	11: 42,488,476 (GRCm39)	V314A	probably damaging	Het
Gpr15lg	T	A	14: 36,829,402 (GRCm39)	H27L	probably benign	Het
Gtf2h3	T	C	5: 124,721,997 (GRCm39)	F32L	probably benign	Het
Gzmk	A	G	13: 113,317,011 (GRCm39)	I56T	probably damaging	Het
Katnbl1	G	T	2: 112,238,963 (GRCm39)		probably null	Het
Klhdc4	G	C	8: 122,533,320 (GRCm39)	S118*	probably null	Het
Klrb1-ps1	A	T	6: 129,097,992 (GRCm39)	K73N	probably benign	Het
Lrp1	T	C	10: 127,446,250 (GRCm39)	D98G	probably damaging	Het
Lrrfip1	C	A	1: 91,032,956 (GRCm39)	D313E	probably damaging	Het
Misp3	A	G	8: 84,738,213 (GRCm39)	L34P	probably damaging	Het
Mmp21	C	T	7: 133,280,715 (GRCm39)	R85H	probably damaging	Het
Mrpl16	A	G	19: 11,751,895 (GRCm39)	I218M	possibly damaging	Het
Rap1gap2	C	A	11: 74,298,148 (GRCm39)	A491S	possibly damaging	Het
Secisbp2l	C	T	2: 125,582,657 (GRCm39)	G933D	possibly damaging	Het
Spata31e2	A	T	1: 26,724,909 (GRCm39)	D90E	possibly damaging	Het
Vmn1r224	T	A	17: 20,639,472 (GRCm39)	S16R	probably damaging	Het
Vmn2r55	C	T	7: 12,418,882 (GRCm39)	A13T	probably damaging	Het
Zer1	A	G	2: 29,991,909 (GRCm39)	V637A	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
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
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

Predicted Primers

PCR Primer
(F):5'- AAACGGACGTGCTCTGTGTG -3'
(R):5'- CAATTATTGCTTTCCTTGTGGAGAG -3'

Sequencing Primer
(F):5'- GGCAACAAGAACTTTCATAACTTC -3'
(R):5'- TTCCTTGTGGAGAGGGGGAAAC -3'

Posted On

2015-01-11