Mutagenetix > Incidental Mutation

Incidental Mutation 'R7141:Mtmr4'

553353

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

Is this an essential gene?

Probably non essential (E-score: 0.172) question?

Stock #

R7141 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

87592162-87616302 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 87600613 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 135 (W135R)

Ref Sequence

ENSEMBL: ENSMUSP00000099468 (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: W135R

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000090478
Gene: ENSMUSG00000018401
AA Change: W135R

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: W135R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000099468
Gene: ENSMUSG00000018401
AA Change: W135R

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: W135R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000112902
Gene: ENSMUSG00000018401
AA Change: W135R

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000134216
AA Change: W149R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000119660
Gene: ENSMUSG00000018401
AA Change: W149R

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

Predicted Effect

probably benign
Transcript: ENSMUST00000146871

Meta Mutation Damage Score

0.6521

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

100% (56/56)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aamp	A	C	1: 74,284,111		probably null	Het
Abhd10	C	T	16: 45,742,806	R29Q	probably benign	Het
Adgrv1	A	G	13: 81,492,501	Y3369H	probably benign	Het
Agl	A	G	3: 116,753,286	I1305T	probably benign	Het
Apba3	A	G	10: 81,273,055	I551V	probably damaging	Het
Appbp2	A	T	11: 85,191,751	Y551*	probably null	Het
Btbd17	T	C	11: 114,791,815	N357S	possibly damaging	Het
Casp2	T	C	6: 42,280,395	F426S	possibly damaging	Het
Cdh5	A	G	8: 104,113,001	N35D	probably benign	Het
Cep350	G	T	1: 155,914,748	Q1354K	probably damaging	Het
Cep44	A	G	8: 56,539,851	C243R	probably damaging	Het
Chst4	A	T	8: 110,030,839	S131T	probably damaging	Het
Cox15	T	C	19: 43,736,747	N406D	probably benign	Het
Cttnbp2	C	T	6: 18,380,468	R1467H	probably benign	Het
Dock8	A	G	19: 25,181,620	D1714G	probably null	Het
Erbb2	G	T	11: 98,427,309	R457L	probably damaging	Het
Esyt3	T	C	9: 99,321,440	N463S	probably benign	Het
Fam171a1	C	T	2: 3,225,152	Q441*	probably null	Het
Fam186b	T	A	15: 99,283,892	M142L	probably benign	Het
Git2	G	T	5: 114,769,698	C35*	probably null	Het
Gm21103	T	G	14: 6,301,807	Q202P	probably damaging	Het
Gm5622	G	T	14: 51,655,882	E89*	probably null	Het
Hmcn2	C	A	2: 31,360,896	T790K	probably benign	Het
Hspg2	T	A	4: 137,552,116	L3114H	probably damaging	Het
Igkv3-10	A	T	6: 70,572,981	Q37L	possibly damaging	Het
Kcp	G	T	6: 29,487,512	Y1106*	probably null	Het
Khsrp	T	C	17: 57,025,602	D226G	possibly damaging	Het
Klre1	T	A	6: 129,583,166	W134R	probably damaging	Het
Lrrc66	A	G	5: 73,629,977	I10T	probably benign	Het
Map4	T	C	9: 109,978,870	M1T	probably null	Het
Met	T	A	6: 17,527,155	I535K	probably benign	Het
Mrgprb1	A	G	7: 48,447,687	V159A	possibly damaging	Het
Mrpl41	A	G	2: 24,974,456	L68P	probably damaging	Het
Mut	T	C	17: 40,952,839	V500A	possibly damaging	Het
Myh10	A	G	11: 68,802,139	D1420G	probably benign	Het
Naglu	A	C	11: 101,072,230	D229A	probably benign	Het
Naip5	T	A	13: 100,219,830	E1092D	probably benign	Het
Ncln	G	T	10: 81,487,849	Y517*	probably null	Het
Nr1h4	G	A	10: 89,498,229	R100*	probably null	Het
Olfr173	G	A	16: 58,797,408	T146M	probably benign	Het
P2rx5	A	T	11: 73,160,648	T18S	probably damaging	Het
Pclo	T	C	5: 14,679,257	S2710P	unknown	Het
Pdhx	A	T	2: 103,073,314	F46I	probably benign	Het
Piezo2	A	T	18: 63,145,110	L241*	probably null	Het
Pitpnm1	G	A	19: 4,102,787	V65M	probably damaging	Het
Rgs3	A	G	4: 62,690,487	D330G	probably damaging	Het
Scaf8	T	C	17: 3,159,182	V60A	unknown	Het
Sema4c	A	G	1: 36,553,020	Y249H	probably damaging	Het
Spp2	T	C	1: 88,407,328	Y27H	probably damaging	Het
Sugct	T	A	13: 17,644,787	I158F	possibly damaging	Het
Sympk	A	T	7: 19,054,092	I1178F	probably benign	Het
Tmppe	T	C	9: 114,404,968	Y112H	probably benign	Het
Trp53bp2	A	G	1: 182,448,508	T187A		Het
Tspoap1	A	G	11: 87,774,697	S754G	probably damaging	Het
Vmn1r214	C	T	13: 23,034,669	A111V	probably benign	Het
Vmn2r70	G	C	7: 85,558,836	S811C	probably benign	Het
Zfp638	T	C	6: 83,867,199	S15P	unknown	Het
Zfp763	A	G	17: 33,018,795	S459P	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
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
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'- AGGTGTTGATGTCTCCTCCC -3'
(R):5'- TGTCGACATCGGATGTGCTC -3'

Sequencing Primer
(F):5'- GTGTTGTTTACTCTTGACCCCATGG -3'
(R):5'- GATGTGCTCTCCTGCAACACAG -3'

Posted On

2019-05-15