Mutagenetix > Incidental Mutation

Incidental Mutation 'R0780:Mtmr4'

76585

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

038960-MU

Accession Numbers

Essential gene?

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

Stock #

R0780 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

87592162-87616302 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 87611440 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 773 (D773E)

Ref Sequence

ENSEMBL: ENSMUSP00000112902 (fasta)

Gene Model

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

AlphaFold

Q91XS1

Predicted Effect

probably benign
Transcript: ENSMUST00000092802
AA Change: D716E

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000090478
Gene: ENSMUSG00000018401
AA Change: D716E

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: D773E

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000099468
Gene: ENSMUSG00000018401
AA Change: D773E

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: D773E

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000112902
Gene: ENSMUSG00000018401
AA Change: D773E

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: 99.4%
3x: 98.8%
10x: 97.4%
20x: 94.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ache	C	T	5: 137,290,532 (GRCm38)	R167C	probably damaging	Het
Ahsa1	T	C	12: 87,268,328 (GRCm38)	I85T	probably benign	Het
Btaf1	T	C	19: 36,988,922 (GRCm38)	L1030S	probably damaging	Het
Ccdc163	A	G	4: 116,712,407 (GRCm38)	K222E	probably benign	Het
Cpsf1	A	G	15: 76,600,377 (GRCm38)	F635L	probably benign	Het
Cubn	G	A	2: 13,456,613 (GRCm38)	T701M	probably damaging	Het
Cxcr2	T	A	1: 74,159,175 (GRCm38)	M276K	probably damaging	Het
Daam1	T	A	12: 71,947,050 (GRCm38)	I409K	unknown	Het
Dnah10	G	T	5: 124,750,812 (GRCm38)	G741W	possibly damaging	Het
Ica1l	A	G	1: 59,997,449 (GRCm38)		probably null	Het
Ifi208	A	G	1: 173,682,696 (GRCm38)	D139G	probably benign	Het
Kat2b	T	A	17: 53,567,448 (GRCm38)	V40E	unknown	Het
Kmt2d	G	T	15: 98,862,857 (GRCm38)	P871T	unknown	Het
Lats2	A	T	14: 57,691,296 (GRCm38)	Y1041N	probably damaging	Het
Lifr	C	T	15: 7,177,466 (GRCm38)	T486I	probably benign	Het
Ptgds	A	G	2: 25,468,092 (GRCm38)	F143S	possibly damaging	Het
Rp1l1	A	G	14: 64,030,351 (GRCm38)	S1129G	possibly damaging	Het
Sdk2	A	G	11: 113,893,508 (GRCm38)	V135A	probably benign	Het
Slc12a8	G	A	16: 33,646,665 (GRCm38)		probably null	Het
Thsd7a	A	G	6: 12,337,274 (GRCm38)	V1248A	probably damaging	Het
Tpr	T	A	1: 150,431,341 (GRCm38)	H1562Q	probably benign	Het
Uba3	G	A	6: 97,186,705 (GRCm38)	R294*	probably null	Het
Vmn2r22	A	T	6: 123,637,974 (GRCm38)	V219E	probably damaging	Het
Zfand6	T	A	7: 84,615,834 (GRCm38)	I220F	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
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
R3858: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'- ACCTCTGACATCAAGGTCCTGGAAG -3'
(R):5'- TGTAGATCAGATCCGGCACAGAGC -3'

Sequencing Primer
(F):5'- CATCAAGGTCCTGGAAGAAACTG -3'
(R):5'- TACTTGCCGTAGAACCAGGG -3'

Posted On

2013-10-16