Mutagenetix > Incidental Mutation

Incidental Mutation 'R7290:Mtmr4'

566340

Institutional Source

Beutler Lab

Gene Symbol

Mtmr4

Ensembl Gene

ENSMUSG00000018401

Gene Name

myotubularin related protein 4

Synonyms

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

MMRRC Submission

045362-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.243) question?

Stock #

R7290 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

87592162-87616302 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 87611237 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 706 (T706A)

Ref Sequence

ENSEMBL: ENSMUSP00000099468 (fasta)

Gene Model

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

AlphaFold

Q91XS1

Predicted Effect

probably benign
Transcript: ENSMUST00000092802
AA Change: T649A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000090478
Gene: ENSMUSG00000018401
AA Change: T649A

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: ENSMUST00000103179
AA Change: T706A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000099468
Gene: ENSMUSG00000018401
AA Change: T706A

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 benign
Transcript: ENSMUST00000119628
AA Change: T706A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000112902
Gene: ENSMUSG00000018401
AA Change: T706A

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

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	T	A	11: 110,030,888	M1447L	probably benign	Het
Adam30	G	A	3: 98,162,941	V697I	probably benign	Het
Adamts12	A	G	15: 11,277,366	N689D	probably benign	Het
Adamts15	T	C	9: 30,902,610	K753R	probably benign	Het
Adra2a	T	C	19: 54,046,404	F64L	probably damaging	Het
Ankub1	A	G	3: 57,672,924	L104P	probably damaging	Het
Arel1	A	G	12: 84,941,945	V10A	probably benign	Het
Atad2	A	T	15: 58,098,651	N1165K	probably benign	Het
Atp6v0d2	T	A	4: 19,880,060	D279V	probably benign	Het
Cadps	A	T	14: 12,616,099	D310E	probably damaging	Het
Caskin2	T	C	11: 115,804,789	I249V	possibly damaging	Het
Cdh23	T	C	10: 60,376,841	N1598S	probably benign	Het
Cep250	A	T	2: 155,992,762	Q2202H	probably benign	Het
Ces5a	T	A	8: 93,534,683	T35S	probably damaging	Het
Cnot11	G	A	1: 39,539,939	W295*	probably null	Het
Cntnap5a	G	T	1: 116,221,889	W565L	probably damaging	Het
Dgka	T	C	10: 128,733,599	E148G	probably damaging	Het
Dnah14	G	A	1: 181,628,174	D955N	probably benign	Het
Erbin	G	A	13: 103,862,326	T184I	probably damaging	Het
Fam208a	T	A	14: 27,438,653	I124N	probably damaging	Het
Fam20c	G	T	5: 138,807,554	G477W	probably damaging	Het
Fan1	T	A	7: 64,372,486	N340Y	probably damaging	Het
Fgfr4	T	C	13: 55,161,449	V433A	probably benign	Het
Gal3st1	A	T	11: 3,998,093	Q100L	possibly damaging	Het
Gfra2	T	C	14: 70,925,940	F221S	probably damaging	Het
Gm19965	G	A	1: 116,821,191	V201M		Het
Gm9573	G	A	17: 35,618,869	A1475V	unknown	Het
Gnb1l	A	T	16: 18,564,056	T282S	probably benign	Het
Gpr171	A	T	3: 59,097,726	N209K	probably benign	Het
Grasp	G	A	15: 101,231,538	S234N	probably damaging	Het
Greb1	G	A	12: 16,711,738	T547I	probably damaging	Het
Ifi214	A	T	1: 173,529,531	V2E	probably benign	Het
Ighv1-71	T	C	12: 115,742,647	M1V	probably null	Het
Itm2b	C	T	14: 73,368,345	G67D	probably damaging	Het
Kif21a	A	T	15: 90,967,229	C995*	probably null	Het
Kifc2	A	T	15: 76,660,704	Y13F	probably damaging	Het
Lamb1	T	A	12: 31,265,596	V59D	probably benign	Het
Lhx1	A	T	11: 84,521,877	D163E	probably damaging	Het
Lrrc1	A	T	9: 77,457,839	Y187N	probably benign	Het
Map3k1	C	A	13: 111,768,111	V380F	probably damaging	Het
Mapk11	T	C	15: 89,144,308	D283G	probably damaging	Het
Mccc2	G	T	13: 99,954,699	A430D	probably damaging	Het
Mest	A	G	6: 30,747,159	N340S	unknown	Het
Mms22l	T	C	4: 24,517,139	L340P	probably benign	Het
Mrnip	A	G	11: 50,196,981	Y110C	possibly damaging	Het
Ncstn	A	G	1: 172,072,806	F234S	probably benign	Het
Nrp1	T	C	8: 128,476,296		probably null	Het
Nup37	T	G	10: 88,174,494	C217G	probably damaging	Het
Olfr936	A	G	9: 39,047,398	L7P	unknown	Het
Pdzrn3	T	C	6: 101,151,245	N820S	probably benign	Het
Pgap1	A	T	1: 54,548,066	F117Y	possibly damaging	Het
Phip	A	T	9: 82,871,293	F1799L	possibly damaging	Het
Ppm1f	T	A	16: 16,910,955	F74I	probably benign	Het
Prpf8	C	A	11: 75,493,957	N775K	possibly damaging	Het
Ptdss2	T	C	7: 141,151,780	I167T	possibly damaging	Het
Ptpn18	G	A	1: 34,462,811		probably null	Het
Rbl2	C	A	8: 91,115,041	A955D	probably benign	Het
Rgl1	A	G	1: 152,544,395	S366P	possibly damaging	Het
Rit2	A	T	18: 31,243,168	M38K	possibly damaging	Het
Robo1	A	G	16: 73,004,520	M1011V	probably benign	Het
Senp6	A	T	9: 80,136,515	E809D	probably benign	Het
Stard3	G	A	11: 98,378,219		probably null	Het
Taar3	T	G	10: 23,950,400	Y281*	probably null	Het
Tacc2	G	T	7: 130,729,373	K352N	probably benign	Het
Tdpoz4	G	A	3: 93,796,848	V151I	not run	Het
Tenm2	A	G	11: 36,023,471	L2413P	probably damaging	Het
Tgm6	T	C	2: 130,141,190	V233A	probably damaging	Het
Tlx3	G	A	11: 33,203,514		probably benign	Het
Tmem94	G	T	11: 115,786,256	R118L	possibly damaging	Het
Trim23	C	A	13: 104,187,433	H133Q	probably damaging	Het
Unc80	A	T	1: 66,601,197	D1421V	probably damaging	Het
Vmn1r172	A	G	7: 23,660,623	N311S	unknown	Het
Vps25	T	A	11: 101,258,949	L153Q	probably damaging	Het
Wbp1l	G	T	19: 46,623,437		probably benign	Het
Ythdc2	A	G	18: 44,837,491	I291V	possibly damaging	Het
Zfp2	A	G	11: 50,900,743	C158R	probably damaging	Het
Zfp786	G	A	6: 47,819,995	P670S	probably damaging	Het
Zfp827	G	A	8: 79,189,813	R339H	possibly damaging	Het
Zmym6	C	T	4: 127,123,501	A1025V	possibly damaging	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
IGL03214:Mtmr4	APN	11	87597693	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- TAACCACTCTCAGGAGGTCAGAG -3'
(R):5'- CTTGCTAGAGACACTGCAGAG -3'

Sequencing Primer
(F):5'- AGGTCAGAGGCAGCCTG -3'
(R):5'- CTGCAGAGTGAGCTGACAGC -3'

Posted On

2019-06-26