Mutagenetix > Incidental Mutation

Incidental Mutation 'R7823:Mtmr4'

602021

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

045877-MU

Accession Numbers

Essential gene?

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

Stock #

R7823 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

87592162-87616302 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 87612189 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Serine at position 1023 (I1023S)

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: I966S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000090478
Gene: ENSMUSG00000018401
AA Change: I966S

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: I1023S

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

SMART Domains

Protein: ENSMUSP00000099468
Gene: ENSMUSG00000018401
AA Change: I1023S

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: I1023S

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

SMART Domains

Protein: ENSMUSP00000112902
Gene: ENSMUSG00000018401
AA Change: I1023S

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: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

99% (68/69)

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc4	A	G	14: 118,534,072	V869A	probably benign	Het
Alox15	C	A	11: 70,344,668	V623L	possibly damaging	Het
Angpt4	T	G	2: 151,911,366	L12R	unknown	Het
Cdh24	C	T	14: 54,637,418	A42T	probably damaging	Het
Cep250	T	A	2: 155,965,416	S234T	possibly damaging	Het
Clnk	T	A	5: 38,750,351	Y188F	probably benign	Het
Csmd2	A	T	4: 128,209,905	T306S		Het
Cyp2f2	G	A	7: 27,129,253	V183I	probably benign	Het
Dgka	T	A	10: 128,736,266	Y50F	probably benign	Het
Dgkh	C	T	14: 78,604,481	V434I	probably benign	Het
Epb41	A	G	4: 131,974,682		probably null	Het
Fam220a	A	G	5: 143,563,256	D141G	probably damaging	Het
Fbxo11	A	G	17: 87,993,182	L807S	probably damaging	Het
G530012D18Rik	G	C	1: 85,577,202		probably benign	Het
Ggt1	G	A	10: 75,574,341	V36M	possibly damaging	Het
Gjb2	T	C	14: 57,100,506	I82V	probably benign	Het
Gm10767	A	G	13: 66,907,287		probably benign	Het
Gm7579	T	A	7: 142,212,570	C238S	unknown	Het
Hps1	G	A	19: 42,755,707	T681M	possibly damaging	Het
Iqck	T	C	7: 118,872,823	Y64H	probably damaging	Het
Ldlr	G	A	9: 21,742,306		probably null	Het
Macc1	A	C	12: 119,447,065	K523Q	probably damaging	Het
Mgea5	A	G	19: 45,776,915	V151A	possibly damaging	Het
Mon2	A	T	10: 123,032,654	I498N	probably damaging	Het
Mphosph9	T	C	5: 124,304,256	E373G	probably damaging	Het
Mthfr	T	C	4: 148,051,487	I314T	probably benign	Het
Myo9a	T	A	9: 59,811,950	F507I	probably damaging	Het
Nlrp10	T	A	7: 108,924,261	M671L	probably benign	Het
Nt5c1a	T	C	4: 123,208,572	V97A	probably damaging	Het
Nxpe5	A	G	5: 138,239,582	R123G	possibly damaging	Het
Obscn	T	C	11: 59,107,940	S1369G	probably damaging	Het
Olfr1248	A	G	2: 89,617,269	*308Q	probably null	Het
Olfr1451	A	T	19: 12,999,417	I144F	probably damaging	Het
Olfr420	A	G	1: 174,159,688	K305R	probably benign	Het
Olfr553	A	G	7: 102,614,957	S11P	probably benign	Het
Olfr820	T	A	10: 130,018,267	M302K	probably benign	Het
Olfr983	A	T	9: 40,092,348	V202E	probably damaging	Het
Pak6	G	A	2: 118,695,312	A618T	probably benign	Het
Pax7	T	A	4: 139,740,839	E489V	probably benign	Het
Phactr4	G	A	4: 132,361,619	R651*	probably null	Het
Pik3c2b	C	T	1: 133,102,305	R1435C	probably damaging	Het
Pla2g4c	A	T	7: 13,330,019	I68F	probably damaging	Het
Plppr1	A	G	4: 49,325,703	M300V	probably benign	Het
Ptgfrn	C	T	3: 101,043,409	V863I	probably damaging	Het
Rabep2	T	C	7: 126,438,721	S222P	probably damaging	Het
Rbm20	A	T	19: 53,843,354	D673V	probably benign	Het
Rsf1	GCG	GCGACGGCGACG	7: 97,579,907		probably benign	Het
Scn4a	C	A	11: 106,342,508	A413S	probably damaging	Het
Scn9a	A	T	2: 66,483,791	M1850K	probably damaging	Het
Sh3tc2	T	A	18: 61,953,117	M1K	probably null	Het
Slc22a28	G	A	19: 8,064,525	T439I	probably benign	Het
Slc25a36	A	G	9: 97,084,391		probably null	Het
Smpd3	A	C	8: 106,255,622	C617G	probably benign	Het
Spata3	T	C	1: 86,022,059		probably benign	Het
Srp68	C	T	11: 116,265,439	R159Q	probably damaging	Het
Ssbp2	C	A	13: 91,642,329	L104I	possibly damaging	Het
St8sia3	T	A	18: 64,266,956	F7L	probably benign	Het
Stard9	T	C	2: 120,702,106	V2948A	probably damaging	Het
Syne4	A	G	7: 30,318,855	T341A	probably benign	Het
Tcf7l2	T	A	19: 55,743,089	D91E	possibly damaging	Het
Tekt5	T	A	16: 10,386,079	I236F	probably damaging	Het
Tlk2	T	C	11: 105,253,307	Y316H	probably damaging	Het
Tmem184b	C	T	15: 79,365,291	A326T	probably benign	Het
Tnks2	G	A	19: 36,852,554		probably null	Het
Trpc4	C	A	3: 54,302,219	Y668*	probably null	Het
Ttc9c	A	T	19: 8,815,922	F118Y	probably benign	Het
Ulk1	C	T	5: 110,798,914	C95Y	probably damaging	Het
Vars2	A	C	17: 35,659,136	L787R	probably damaging	Het
Vwa3a	T	C	7: 120,772,962	S254P	probably damaging	Het
Wdr81	T	C	11: 75,449,801	Y1250C	probably damaging	Het
Xirp2	A	T	2: 67,511,774	D1453V	probably damaging	Het
Zbtb38	A	T	9: 96,685,976	C1018*	probably null	Het
Zfp622	C	T	15: 25,984,623	T25M	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
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'- AGGGATGAAATCTCCTGTCTGTTC -3'
(R):5'- TGGCACACAGAAAGTACTCAGC -3'

Sequencing Primer
(F):5'- TAGTCATTCCAATGGACACTGC -3'
(R):5'- CAGAAAGTACTCAGCAAGTGC -3'

Posted On

2019-12-03