Mutagenetix > Incidental Mutation

Incidental Mutation 'R8971:Mtmr4'

683113

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

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.277) question?

Stock #

R8971 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

87592162-87616302 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 87602800 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 295 (S295P)

Ref Sequence

ENSEMBL: ENSMUSP00000099468 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000092802] [ENSMUST00000103179] [ENSMUST00000119628] [ENSMUST00000134216] [ENSMUST00000146871]

AlphaFold

Q91XS1

Predicted Effect

probably benign
Transcript: ENSMUST00000092802
AA Change: S295P

PolyPhen 2 Score 0.249 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000090478
Gene: ENSMUSG00000018401
AA Change: S295P

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: S295P

PolyPhen 2 Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000099468
Gene: ENSMUSG00000018401
AA Change: S295P

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: S295P

PolyPhen 2 Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000112902
Gene: ENSMUSG00000018401
AA Change: S295P

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

Predicted Effect

probably benign
Transcript: ENSMUST00000146871

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9230112D13Rik	T	C	14: 34,514,426	H44R	unknown	Het
Acp6	C	T	3: 97,171,645	H254Y	probably damaging	Het
Acvrl1	A	G	15: 101,135,523	N97S	possibly damaging	Het
Afm	T	A	5: 90,548,816	V455E	probably damaging	Het
Ankrd44	G	T	1: 54,653,793	D927E	probably benign	Het
Ap2a2	T	C	7: 141,611,345	V275A	probably benign	Het
Arfgef2	A	T	2: 166,859,301	Q673L	probably damaging	Het
Atp6v0a2	T	C	5: 124,719,997	F814L	probably damaging	Het
Axdnd1	G	A	1: 156,391,946	A193V		Het
Bicra	T	A	7: 15,987,556	I679L	probably benign	Het
Ccm2l	G	A	2: 153,067,836	R36H	probably damaging	Het
Cd160	T	A	3: 96,805,786	D54V	probably damaging	Het
Cela3a	C	T	4: 137,405,911	G50D	probably benign	Het
Cep152	T	A	2: 125,579,850	R987*	probably null	Het
Cnnm2	T	C	19: 46,856,923	V618A	probably benign	Het
Crim1	G	A	17: 78,345,980	R593Q	possibly damaging	Het
Ctsc	A	G	7: 88,309,816	S435G	probably benign	Het
Dcbld1	G	T	10: 52,319,862	A460S	probably benign	Het
Dcbld2	A	G	16: 58,456,352	E502G	probably benign	Het
Dhx30	A	T	9: 110,084,445	L1207*	probably null	Het
Dlx2	A	T	2: 71,546,372	S7R	possibly damaging	Het
Dmwd	T	A	7: 19,081,048	I541N	probably damaging	Het
Dmxl1	T	G	18: 49,864,508	L588V	possibly damaging	Het
Dmxl1	C	T	18: 49,893,674	P1950S	probably damaging	Het
Dnhd1	T	A	7: 105,709,321	L3339*	probably null	Het
Elovl1	C	A	4: 118,431,512	P160Q	probably damaging	Het
Epg5	T	A	18: 77,979,219	L1059Q	probably damaging	Het
Fam149b	C	T	14: 20,352,709	S53F	probably benign	Het
Fat1	T	A	8: 45,042,294	C4140S	probably damaging	Het
Gria2	C	T	3: 80,707,893	V427I	probably damaging	Het
H2al2a	C	A	2: 17,996,726	A50S	probably damaging	Het
Hspbp1	T	C	7: 4,681,859	M132V	possibly damaging	Het
Igsf9	C	T	1: 172,484,466		probably benign	Het
Jup	C	T	11: 100,379,565	C372Y	probably damaging	Het
Katnb1	G	A	8: 95,096,359	R394Q	probably damaging	Het
Kif1b	A	T	4: 149,247,816	D553E	probably damaging	Het
Kif3a	T	A	11: 53,583,362	L251Q	probably damaging	Het
Klb	T	A	5: 65,375,683	I445K	probably damaging	Het
Klhl29	T	A	12: 5,140,710		probably null	Het
Lipf	A	G	19: 33,964,873	K68E	probably benign	Het
Lnx2	T	A	5: 147,033,426	I169L	probably benign	Het
Lrba	A	C	3: 86,615,081	I2223L	probably benign	Het
Lrp1	C	T	10: 127,556,027	D2890N	possibly damaging	Het
Lrp1b	T	C	2: 41,435,628	T926A		Het
Lrrc37a	T	A	11: 103,500,664	I1312F	probably benign	Het
Lrrc71	T	C	3: 87,739,846	H477R	possibly damaging	Het
Lrrc8e	T	C	8: 4,234,141	V122A	probably damaging	Het
Lsm14b	T	C	2: 180,025,314		probably null	Het
Magel2	A	C	7: 62,380,251	I968L	unknown	Het
Mapkbp1	T	C	2: 120,019,569	V771A	probably benign	Het
Nanos3	T	A	8: 84,176,186	T116S	probably benign	Het
Nectin3	T	C	16: 46,448,902	D379G	probably benign	Het
Nelfa	T	C	5: 33,936,195	H14R	possibly damaging	Het
Nnt	A	G	13: 119,366,431	W593R	unknown	Het
Nudt2	A	T	4: 41,477,575	M19L	probably benign	Het
Olfr1026	T	C	2: 85,923,984	S239P	probably damaging	Het
Olfr1220	T	A	2: 89,097,547	K127*	probably null	Het
Olfr153	T	A	2: 87,532,236	C68S	probably benign	Het
Olfr308	T	A	7: 86,321,161	I264F	possibly damaging	Het
Olfr656	A	T	7: 104,618,260	T194S	probably damaging	Het
Palld	A	T	8: 61,516,701	D1196E	unknown	Het
Parl	A	G	16: 20,298,159	L96P	probably damaging	Het
Pip4k2a	T	C	2: 18,847,556	D305G	probably benign	Het
Pkhd1l1	T	C	15: 44,529,519	V1750A	possibly damaging	Het
Prkdc	A	G	16: 15,675,365	E712G	probably null	Het
Rasgrf2	T	C	13: 92,021,717	E532G	possibly damaging	Het
Rbp3	T	A	14: 33,955,835	L580Q	probably damaging	Het
Ribc2	G	T	15: 85,132,136		probably benign	Het
Rmnd5b	T	C	11: 51,624,495	S315G	probably benign	Het
Rp1l1	T	A	14: 64,021,996	V29E	probably damaging	Het
Sclt1	T	C	3: 41,727,106	T93A	probably benign	Het
Shroom1	T	A	11: 53,465,167	L348H	probably damaging	Het
Slc13a1	T	C	6: 24,090,786	K545E	probably benign	Het
Slc20a2	C	T	8: 22,540,380	P151S	probably damaging	Het
Slc22a4	T	C	11: 53,988,892	Y447C	probably damaging	Het
Slu7	C	A	11: 43,442,653	Q367K	probably benign	Het
Spen	T	C	4: 141,474,578	N2246S	possibly damaging	Het
Tac4	T	G	11: 95,265,219	I42S	possibly damaging	Het
Tmem87a	A	G	2: 120,360,060	V530A		Het
Tnrc6c	T	C	11: 117,749,263	I1208T	possibly damaging	Het
Vmn1r230	C	T	17: 20,847,059	T170I	possibly damaging	Het
Vps29	A	G	5: 122,360,149	D51G	probably benign	Het
Washc2	T	C	6: 116,254,438	L874P	probably damaging	Het
Wdr5b	T	C	16: 36,041,556	L15P	probably benign	Het
Zscan20	T	A	4: 128,586,054	Q881H	probably damaging	Het
Zscan20	T	G	4: 128,586,055	Q881P	probably 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
R7290:Mtmr4	UTSW	11	87611237	missense	probably benign
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
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'- GTGACACAGATTTCGGTAAGGC -3'
(R):5'- TTCAAATATCCAAGCTGCCCTC -3'

Sequencing Primer
(F):5'- GTGCTAGTGCCCCCAGTGATAG -3'
(R):5'- TCAATCTCCTCCTGACCAAAGCTG -3'

Posted On

2021-10-11