Mutagenetix > Incidental Mutation

Incidental Mutation 'R4816:Mtmr4'

369826

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

042434-MU

Accession Numbers

Essential gene?

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

Stock #

R4816 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

87592162-87616302 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 87604097 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 405 (V405A)

Ref Sequence

ENSEMBL: ENSMUSP00000112902 (fasta)

Gene Model

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

AlphaFold

Q91XS1

Predicted Effect

probably damaging
Transcript: ENSMUST00000092802
AA Change: V405A

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

SMART Domains

Protein: ENSMUSP00000090478
Gene: ENSMUSG00000018401
AA Change: V405A

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: V405A

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

SMART Domains

Protein: ENSMUSP00000099468
Gene: ENSMUSG00000018401
AA Change: V405A

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: V405A

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

SMART Domains

Protein: ENSMUSP00000112902
Gene: ENSMUSG00000018401
AA Change: V405A

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: ENSMUST00000134216

SMART Domains

Protein: ENSMUSP00000119660
Gene: ENSMUSG00000018401

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

Meta Mutation Damage Score

0.7939

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.0%

Validation Efficiency

97% (113/116)

Allele List at MGI

Other mutations in this stock

Total: 107 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	A	C	11: 23,615,243 (GRCm38)	I248S	possibly damaging	Het
8030462N17Rik	A	T	18: 77,653,299 (GRCm38)		probably null	Het
Abcc8	C	A	7: 46,104,707 (GRCm38)	A1562S	probably benign	Het
Adam30	C	A	3: 98,162,745 (GRCm38)	D631E	possibly damaging	Het
Adgrv1	T	C	13: 81,528,674 (GRCm38)	T2013A	probably damaging	Het
Als2cr12	G	A	1: 58,670,408 (GRCm38)	A196V	probably benign	Het
Baiap3	T	A	17: 25,247,295 (GRCm38)		probably benign	Het
Bicra	T	C	7: 15,988,906 (GRCm38)	T229A	possibly damaging	Het
C1qbp	A	G	11: 70,982,364 (GRCm38)		probably benign	Het
C2cd3	C	A	7: 100,391,019 (GRCm38)	T265K	probably benign	Het
Cacna1s	T	A	1: 136,115,269 (GRCm38)	I1331K	possibly damaging	Het
Cdadc1	AGACGGA	AGA	14: 59,568,991 (GRCm38)		probably null	Het
Cdcp2	A	G	4: 107,106,772 (GRCm38)	Y273C	probably damaging	Het
Cdh23	A	C	10: 60,409,077 (GRCm38)	V1013G	possibly damaging	Het
Celf3	T	A	3: 94,479,222 (GRCm38)	I39N	probably damaging	Het
Cep152	A	C	2: 125,563,754 (GRCm38)	S1619R	probably damaging	Het
Cfap36	A	G	11: 29,245,108 (GRCm38)	I42T	probably damaging	Het
Cfap61	G	T	2: 146,143,100 (GRCm38)	V955L	probably damaging	Het
Cit	G	A	5: 115,908,691 (GRCm38)	D388N	probably damaging	Het
Clca3a2	T	C	3: 144,810,852 (GRCm38)	M328V	probably benign	Het
Cntn4	A	T	6: 106,550,497 (GRCm38)	I447L	probably benign	Het
Csmd3	T	C	15: 47,857,934 (GRCm38)	T1538A	possibly damaging	Het
Cstf1	A	G	2: 172,372,985 (GRCm38)	K9E	probably damaging	Het
Dip2c	T	A	13: 9,575,150 (GRCm38)	M560K	probably benign	Het
Dsg1a	A	T	18: 20,333,722 (GRCm38)	T550S	probably benign	Het
Dtnb	A	G	12: 3,749,505 (GRCm38)	E460G	probably damaging	Het
Dus1l	GAGGTAAG	GAG	11: 120,789,758 (GRCm38)		probably benign	Het
Efl1	T	A	7: 82,671,719 (GRCm38)	V120E	probably damaging	Het
Fbxl13	T	C	5: 21,484,003 (GRCm38)	Y769C	probably benign	Het
Fcho2	T	C	13: 98,806,366 (GRCm38)	Y22C	probably damaging	Het
Gbp3	T	C	3: 142,567,574 (GRCm38)	V294A	probably damaging	Het
Gls	A	G	1: 52,199,945 (GRCm38)		probably benign	Het
Gm15130	A	T	2: 111,135,369 (GRCm38)		probably benign	Het
Gm6185	A	T	1: 161,213,158 (GRCm38)		noncoding transcript	Het
Gpr171	T	A	3: 59,098,096 (GRCm38)	H86L	probably damaging	Het
Gpr179	T	C	11: 97,339,248 (GRCm38)	T694A	probably damaging	Het
H2-Aa	A	T	17: 34,283,820 (GRCm38)	V124E	probably damaging	Het
H2-M5	A	G	17: 36,989,417 (GRCm38)		probably benign	Het
Hist1h2bl	A	G	13: 21,715,965 (GRCm38)	M60T	probably benign	Het
Igf2r	A	T	17: 12,684,097 (GRCm38)	N2355K	probably damaging	Het
Il9r	A	C	11: 32,192,654 (GRCm38)	S295A	possibly damaging	Het
Ipo9	T	C	1: 135,406,550 (GRCm38)	T313A	probably benign	Het
Kalrn	C	T	16: 34,514,019 (GRCm38)		probably benign	Het
Lama3	G	A	18: 12,477,604 (GRCm38)	V1175M	possibly damaging	Het
Lhpp	T	A	7: 132,670,375 (GRCm38)	C242*	probably null	Het
Lipe	A	G	7: 25,380,143 (GRCm38)	S1013P	probably damaging	Het
Lrrc25	C	T	8: 70,618,076 (GRCm38)	T169I	probably benign	Het
Lrrc39	T	C	3: 116,568,866 (GRCm38)		probably null	Het
Lrrd1	T	A	5: 3,851,126 (GRCm38)	L477*	probably null	Het
Lrriq4	A	G	3: 30,660,047 (GRCm38)	I515V	possibly damaging	Het
Magel2	A	G	7: 62,381,092 (GRCm38)	Y1248C	unknown	Het
Maml1	G	T	11: 50,258,335 (GRCm38)	N859K	possibly damaging	Het
Mdm1	A	T	10: 118,146,877 (GRCm38)	H139L	possibly damaging	Het
Mef2d	C	T	3: 88,168,090 (GRCm38)	P420S	possibly damaging	Het
Mgat4b	A	G	11: 50,211,021 (GRCm38)	K38E	probably benign	Het
Naip5	T	C	13: 100,219,696 (GRCm38)	Q1137R	probably benign	Het
Naip5	G	A	13: 100,219,687 (GRCm38)	T1140M	probably benign	Het
Naip5	G	A	13: 100,219,681 (GRCm38)	S1142F	probably benign	Het
Nfe2l3	T	C	6: 51,456,624 (GRCm38)	S239P	probably damaging	Het
Nlrp3	A	G	11: 59,548,301 (GRCm38)	I235V	probably benign	Het
Nyap2	T	A	1: 81,241,313 (GRCm38)	L318Q	probably damaging	Het
Nynrin	G	A	14: 55,872,001 (GRCm38)	V1522M	probably damaging	Het
Olfr1016	A	T	2: 85,800,047 (GRCm38)	N74K	probably benign	Het
Olfr1461	A	G	19: 13,165,124 (GRCm38)	I37V	probably benign	Het
Olfr659	C	T	7: 104,670,735 (GRCm38)	P11L	probably benign	Het
Olfr810	T	C	10: 129,791,439 (GRCm38)	D50G	probably damaging	Het
Olfr875	T	A	9: 37,773,430 (GRCm38)	M257K	possibly damaging	Het
Oog3	A	G	4: 144,159,161 (GRCm38)	L289P	probably damaging	Het
Pax6	T	C	2: 105,683,784 (GRCm38)		probably benign	Het
Pbrm1	G	A	14: 31,110,448 (GRCm38)	R1441K	probably benign	Het
Pcdha9	C	T	18: 36,999,458 (GRCm38)	R527W	probably damaging	Het
Pcdhb17	T	C	18: 37,487,397 (GRCm38)	S747P	probably benign	Het
Pcnx3	A	C	19: 5,687,995 (GRCm38)		probably null	Het
Pds5a	A	T	5: 65,651,289 (GRCm38)	V413E	probably damaging	Het
Phpt1	G	T	2: 25,574,320 (GRCm38)		probably benign	Het
Phykpl	A	G	11: 51,592,953 (GRCm38)	E220G	probably benign	Het
Pias2	T	C	18: 77,105,891 (GRCm38)		probably null	Het
Pkhd1	T	A	1: 20,199,415 (GRCm38)	I3302L	probably damaging	Het
Poli	A	G	18: 70,522,751 (GRCm38)	L241P	probably damaging	Het
Ppm1h	T	A	10: 122,679,379 (GRCm38)	I65N	possibly damaging	Het
Ptpn14	T	C	1: 189,856,800 (GRCm38)	L954P	probably damaging	Het
Pxk	T	G	14: 8,136,893 (GRCm38)	M138R	probably damaging	Het
Rasl11b	G	T	5: 74,198,397 (GRCm38)	D188Y	probably damaging	Het
Rtraf	A	G	14: 19,822,576 (GRCm38)	F59S	probably benign	Het
Serpinb5	G	T	1: 106,872,339 (GRCm38)	L86F	probably damaging	Het
Setdb2	G	A	14: 59,413,646 (GRCm38)	T412I	probably benign	Het
Shank2	C	A	7: 144,052,306 (GRCm38)	N75K	probably damaging	Het
Shank3	T	A	15: 89,543,115 (GRCm38)	I791N	probably damaging	Het
Slc25a13	T	A	6: 6,114,274 (GRCm38)	M213L	possibly damaging	Het
Slc25a21	T	C	12: 56,713,838 (GRCm38)	Y298C	probably damaging	Het
Slc34a2	A	G	5: 53,069,020 (GRCm38)	N495S	probably damaging	Het
Smc2	A	G	4: 52,451,231 (GRCm38)	T292A	probably benign	Het
Spag9	T	C	11: 94,048,599 (GRCm38)		probably benign	Het
Tas2r113	C	T	6: 132,893,782 (GRCm38)	P258S	probably benign	Het
Tbkbp1	T	C	11: 97,138,741 (GRCm38)	S530G	probably benign	Het
Tenm2	A	G	11: 36,027,290 (GRCm38)	V1881A	probably damaging	Het
Tm9sf1	C	T	14: 55,641,149 (GRCm38)	R262Q	possibly damaging	Het
Tmcc3	G	T	10: 94,578,784 (GRCm38)	G147V	possibly damaging	Het
Trim38	A	T	13: 23,788,281 (GRCm38)	E195V	probably damaging	Het
Try5	T	C	6: 41,313,415 (GRCm38)	Y45C	probably benign	Het
Umad1	A	C	6: 8,457,462 (GRCm38)		probably benign	Het
Vmn2r105	T	C	17: 20,208,691 (GRCm38)	I708V	probably benign	Het
Zc3h12d	A	T	10: 7,867,947 (GRCm38)	S494C	probably damaging	Het
Zeb2	A	G	2: 44,997,768 (GRCm38)	S382P	probably damaging	Het
Zfc3h1	A	G	10: 115,415,694 (GRCm38)	S1304G	probably benign	Het
Zfp287	G	T	11: 62,714,248 (GRCm38)	T611K	probably damaging	Het
Zfp534	G	A	4: 147,674,286 (GRCm38)	T642I	possibly 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
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
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'- CAGAGACATGTGGTAGCCCTAG -3'
(R):5'- GGCAGCTGTAAACACGTTAAG -3'

Sequencing Primer
(F):5'- ATGTGGTAGCCCTAGAACCCTTAG -3'
(R):5'- ACACGTTAAGTCTAAGCCTGG -3'

Posted On

2016-02-04