Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03049:Mtmr4'

408990

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mtmr4

Ensembl Gene

ENSMUSG00000018401

Gene Name

myotubularin related protein 4

Synonyms

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

Accession Numbers

Essential gene?

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

Stock #

IGL03049

Quality Score

Status

Chromosome

Chromosomal Location

87592162-87616302 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 87614234 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 1185 (I1185N)

Ref Sequence

ENSEMBL: ENSMUSP00000112902 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000092802] [ENSMUST00000093956] [ENSMUST00000103179] [ENSMUST00000119628]

AlphaFold

Q91XS1

Predicted Effect

probably damaging
Transcript: ENSMUST00000092802
AA Change: I1128N

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

SMART Domains

Protein: ENSMUSP00000090478
Gene: ENSMUSG00000018401
AA Change: I1128N

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: ENSMUST00000093956

SMART Domains

Protein: ENSMUSP00000091488
Gene: ENSMUSG00000070345

Domain	Start	End	E-Value	Type
HSF	11	153	2.35e-9	SMART
Blast:HSF	163	423	1e-149	BLAST
low complexity region	442	457	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000103179
AA Change: I1185N

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

SMART Domains

Protein: ENSMUSP00000099468
Gene: ENSMUSG00000018401
AA Change: I1185N

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: I1185N

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

SMART Domains

Protein: ENSMUSP00000112902
Gene: ENSMUSG00000018401
AA Change: I1185N

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgef19	A	G	4: 141,254,316 (GRCm38)	H645R	probably damaging	Het
Asic5	A	G	3: 81,996,949 (GRCm38)		probably benign	Het
Atp6v0a2	T	C	5: 124,712,781 (GRCm38)	F424L	probably damaging	Het
Clca4a	A	T	3: 144,970,755 (GRCm38)		probably benign	Het
Eif3k	A	G	7: 28,971,433 (GRCm38)	S178P	possibly damaging	Het
Elp2	C	T	18: 24,631,459 (GRCm38)	T621I	probably benign	Het
Exoc3l4	T	C	12: 111,423,401 (GRCm38)	S137P	probably damaging	Het
Gm14393	C	A	2: 175,061,788 (GRCm38)	G109C	probably damaging	Het
Gp2	A	G	7: 119,450,294 (GRCm38)	V340A	possibly damaging	Het
Hic2	A	G	16: 17,257,936 (GRCm38)	S210G	probably benign	Het
Lcn3	T	A	2: 25,765,574 (GRCm38)	M1K	probably null	Het
Ldlr	A	G	9: 21,745,819 (GRCm38)	E692G	probably benign	Het
Ly75	T	C	2: 60,352,070 (GRCm38)	N587S	probably damaging	Het
Msh2	T	C	17: 87,708,509 (GRCm38)	F523S	probably damaging	Het
Ncoa6	T	A	2: 155,419,014 (GRCm38)	K519N	probably damaging	Het
Olfr1195	C	T	2: 88,683,490 (GRCm38)	V81M	possibly damaging	Het
Olfr1356	T	A	10: 78,847,522 (GRCm38)	H131L	possibly damaging	Het
Olfr619	A	T	7: 103,604,091 (GRCm38)	I146F	probably damaging	Het
Ppp1r13b	T	C	12: 111,833,229 (GRCm38)	T705A	probably benign	Het
Ripor1	A	G	8: 105,615,447 (GRCm38)	D119G	probably damaging	Het
Scn10a	A	G	9: 119,665,990 (GRCm38)	V395A	probably damaging	Het
Slc18b1	T	C	10: 23,822,946 (GRCm38)	V338A	probably benign	Het
Usp10	A	G	8: 119,956,627 (GRCm38)	T746A	probably benign	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
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
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

Posted On

2016-08-02