Mutagenetix > Incidental Mutation

Incidental Mutation 'R3858:Mtmr4'

276258

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

040786-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.279) question?

Stock #

R3858 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

87592162-87616302 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 87597262 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 24 (V24M)

Ref Sequence

ENSEMBL: ENSMUSP00000112902 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000092802] [ENSMUST00000103179] [ENSMUST00000119628] [ENSMUST00000123105] [ENSMUST00000134216] [ENSMUST00000146871]

AlphaFold

Q91XS1

Predicted Effect

probably damaging
Transcript: ENSMUST00000092802
AA Change: V24M

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000090478
Gene: ENSMUSG00000018401
AA Change: V24M

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: V24M

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000099468
Gene: ENSMUSG00000018401
AA Change: V24M

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: V24M

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000112902
Gene: ENSMUSG00000018401
AA Change: V24M

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: ENSMUST00000123105
AA Change: V24M

PolyPhen 2 Score 0.409 (Sensitivity: 0.89; Specificity: 0.90)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000134216
AA Change: V38M

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000119660
Gene: ENSMUSG00000018401
AA Change: V38M

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

Predicted Effect

probably benign
Transcript: ENSMUST00000146871
AA Change: V24M

PolyPhen 2 Score 0.409 (Sensitivity: 0.89; Specificity: 0.90)

Meta Mutation Damage Score

0.1272

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.7%
20x: 96.1%

Validation Efficiency

97% (36/37)

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	T	A	5: 8,813,581	S179T	probably benign	Het
Ahnak	A	G	19: 9,010,859	E3169G	possibly damaging	Het
Ccdc82	G	A	9: 13,252,079		probably benign	Het
Ccng1	A	G	11: 40,753,833	L79P	probably damaging	Het
Cd2ap	G	A	17: 42,816,572	Q377*	probably null	Het
Celf1	A	G	2: 91,012,741	E411G	probably damaging	Het
Cps1	A	G	1: 67,168,278	Y582C	probably damaging	Het
Efhb	A	G	17: 53,462,780	L167S	possibly damaging	Het
Erc2	A	G	14: 28,475,642		probably benign	Het
Hs3st1	G	A	5: 39,614,913	T129I	probably damaging	Het
Irs4	T	C	X: 141,724,063	E379G	probably damaging	Het
Kcnmb2	T	C	3: 32,198,301	V217A	probably damaging	Het
Megf10	T	C	18: 57,275,835		probably benign	Het
Mib1	T	A	18: 10,798,409	C757S	possibly damaging	Het
Obscn	A	G	11: 59,080,969		probably benign	Het
Olfr103	A	T	17: 37,337,226	L2*	probably null	Het
Olfr1475	T	A	19: 13,480,130	I23F	possibly damaging	Het
Pirb	T	C	7: 3,717,663	K279E	possibly damaging	Het
Pmp22	T	C	11: 63,134,475	S45P	probably benign	Het
Pth2r	A	T	1: 65,322,047	I52F	probably damaging	Het
Reck	A	G	4: 43,930,261	T612A	probably benign	Het
Rtn4rl2	A	G	2: 84,880,386		probably null	Het
Sis	A	G	3: 72,928,652	I868T	probably damaging	Het
Slc23a3	A	G	1: 75,129,396		probably null	Het
Slc4a1	A	T	11: 102,357,121	V349E	probably benign	Het
Thsd7a	C	T	6: 12,555,226	G220S	probably benign	Het
Tle4	G	A	19: 14,468,213	T223I	probably benign	Het
Tmem2	A	G	19: 21,852,234	T1236A	probably benign	Het
Tmem29	T	C	X: 150,420,361	Q39R	probably benign	Het
Tor3a	T	A	1: 156,669,554	L140F	probably damaging	Het
Vmn2r86	A	G	10: 130,455,725	M57T	probably benign	Het
Zfp512	G	T	5: 31,472,840	R222L	probably damaging	Het

Other mutations in Mtmr4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00337:Mtmr4	APN	11	87,611,924 (GRCm38)	missense	probably benign	0.29
IGL01134:Mtmr4	APN	11	87,604,067 (GRCm38)	missense	probably damaging	1.00
IGL01317:Mtmr4	APN	11	87,602,404 (GRCm38)	unclassified	probably benign
IGL01544:Mtmr4	APN	11	87,597,611 (GRCm38)	splice site	probably benign
IGL01574:Mtmr4	APN	11	87,600,647 (GRCm38)	missense	probably benign	0.01
IGL01807:Mtmr4	APN	11	87,604,150 (GRCm38)	missense	possibly damaging	0.55
IGL02059:Mtmr4	APN	11	87,601,124 (GRCm38)	missense	possibly damaging	0.66
IGL03049:Mtmr4	APN	11	87,614,234 (GRCm38)	missense	probably damaging	1.00
IGL03196:Mtmr4	APN	11	87,600,783 (GRCm38)	missense	possibly damaging	0.92
IGL03214:Mtmr4	APN	11	87,597,693 (GRCm38)	missense	probably damaging	1.00
IGL03258:Mtmr4	APN	11	87,612,003 (GRCm38)	missense	possibly damaging	0.63
Hippie	UTSW	11	87,613,483 (GRCm38)	missense	probably damaging	1.00
incharge	UTSW	11	87,611,042 (GRCm38)	nonsense	probably null
PIT4802001:Mtmr4	UTSW	11	87,611,127 (GRCm38)	missense	probably benign
R0009:Mtmr4	UTSW	11	87,611,508 (GRCm38)	missense	probably benign	0.02
R0564:Mtmr4	UTSW	11	87,598,888 (GRCm38)	missense	probably damaging	1.00
R0637:Mtmr4	UTSW	11	87,611,064 (GRCm38)	missense	probably benign	0.30
R0780:Mtmr4	UTSW	11	87,611,440 (GRCm38)	missense	probably benign	0.03
R1490:Mtmr4	UTSW	11	87,612,225 (GRCm38)	missense	probably damaging	1.00
R1550:Mtmr4	UTSW	11	87,613,516 (GRCm38)	missense	probably damaging	1.00
R1777:Mtmr4	UTSW	11	87,602,830 (GRCm38)	missense	probably damaging	1.00
R1828:Mtmr4	UTSW	11	87,612,117 (GRCm38)	missense	probably benign	0.26
R2040:Mtmr4	UTSW	11	87,605,090 (GRCm38)	missense	probably damaging	1.00
R2088:Mtmr4	UTSW	11	87,610,967 (GRCm38)	missense	probably damaging	0.98
R2497:Mtmr4	UTSW	11	87,600,823 (GRCm38)	missense	probably damaging	1.00
R2993:Mtmr4	UTSW	11	87,604,997 (GRCm38)	missense	probably damaging	1.00
R3857:Mtmr4	UTSW	11	87,597,262 (GRCm38)	missense	probably damaging	0.98
R4614:Mtmr4	UTSW	11	87,610,935 (GRCm38)	missense	probably damaging	0.99
R4615:Mtmr4	UTSW	11	87,610,935 (GRCm38)	missense	probably damaging	0.99
R4616:Mtmr4	UTSW	11	87,610,935 (GRCm38)	missense	probably damaging	0.99
R4816:Mtmr4	UTSW	11	87,604,097 (GRCm38)	missense	probably damaging	1.00
R5454:Mtmr4	UTSW	11	87,611,042 (GRCm38)	nonsense	probably null
R5502:Mtmr4	UTSW	11	87,614,078 (GRCm38)	missense	probably damaging	1.00
R5566:Mtmr4	UTSW	11	87,604,530 (GRCm38)	missense	probably damaging	1.00
R5833:Mtmr4	UTSW	11	87,605,049 (GRCm38)	nonsense	probably null
R5907:Mtmr4	UTSW	11	87,612,050 (GRCm38)	missense	probably damaging	0.99
R5980:Mtmr4	UTSW	11	87,604,151 (GRCm38)	missense	probably damaging	1.00
R6077:Mtmr4	UTSW	11	87,611,019 (GRCm38)	missense	probably damaging	1.00
R6434:Mtmr4	UTSW	11	87,613,483 (GRCm38)	missense	probably damaging	1.00
R6521:Mtmr4	UTSW	11	87,613,527 (GRCm38)	missense	possibly damaging	0.86
R7141:Mtmr4	UTSW	11	87,600,613 (GRCm38)	missense	probably damaging	1.00
R7182:Mtmr4	UTSW	11	87,604,605 (GRCm38)	critical splice donor site	probably null
R7290:Mtmr4	UTSW	11	87,611,237 (GRCm38)	missense	probably benign
R7350:Mtmr4	UTSW	11	87,600,650 (GRCm38)	missense	probably damaging	0.98
R7392:Mtmr4	UTSW	11	87,604,557 (GRCm38)	missense	probably damaging	1.00
R7447:Mtmr4	UTSW	11	87,611,901 (GRCm38)	missense	probably damaging	1.00
R7530:Mtmr4	UTSW	11	87,611,876 (GRCm38)	missense	probably damaging	1.00
R7660:Mtmr4	UTSW	11	87,604,580 (GRCm38)	missense	probably damaging	0.99
R7713:Mtmr4	UTSW	11	87,597,724 (GRCm38)	missense	probably damaging	1.00
R7823:Mtmr4	UTSW	11	87,612,189 (GRCm38)	missense	probably damaging	1.00
R7944:Mtmr4	UTSW	11	87,604,428 (GRCm38)	missense	probably damaging	1.00
R7945:Mtmr4	UTSW	11	87,604,428 (GRCm38)	missense	probably damaging	1.00
R8010:Mtmr4	UTSW	11	87,598,864 (GRCm38)	missense	probably damaging	1.00
R8116:Mtmr4	UTSW	11	87,611,930 (GRCm38)	nonsense	probably null
R8544:Mtmr4	UTSW	11	87,611,909 (GRCm38)	missense	possibly damaging	0.86
R8559:Mtmr4	UTSW	11	87,604,124 (GRCm38)	missense	probably damaging	1.00
R8971:Mtmr4	UTSW	11	87,602,800 (GRCm38)	missense	probably benign	0.13
R9562:Mtmr4	UTSW	11	87,602,415 (GRCm38)	missense	probably damaging	1.00
R9673:Mtmr4	UTSW	11	87,614,090 (GRCm38)	missense	probably damaging	1.00
R9673:Mtmr4	UTSW	11	87,612,312 (GRCm38)	missense	probably damaging	1.00
R9797:Mtmr4	UTSW	11	87,604,136 (GRCm38)	missense	probably damaging	1.00
X0062:Mtmr4	UTSW	11	87,611,825 (GRCm38)	missense	probably damaging	0.99
Z1177:Mtmr4	UTSW	11	87,611,880 (GRCm38)	missense	probably benign	0.41

Predicted Primers

PCR Primer
(F):5'- GCCAAGTCAGGTCTCCTTTAAAAC -3'
(R):5'- GACACTGGTCATCTGCTGTG -3'

Sequencing Primer
(F):5'- ACAAAGGAAGGTGTCTGTAGGTTTG -3'
(R):5'- CCTTCCCTGAGGCCAAAG -3'

Posted On

2015-04-06