Mutagenetix > Incidental Mutation

Incidental Mutation 'R1828:Mtmr4'

207030

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

039855-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R1828 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

87592162-87616302 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 87612117 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 999 (V999A)

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: V942A

PolyPhen 2 Score 0.211 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000090478
Gene: ENSMUSG00000018401
AA Change: V942A

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: V999A

PolyPhen 2 Score 0.259 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000099468
Gene: ENSMUSG00000018401
AA Change: V999A

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: V999A

PolyPhen 2 Score 0.259 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000112902
Gene: ENSMUSG00000018401
AA Change: V999A

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: 97.4%
3x: 96.9%
10x: 95.2%
20x: 92.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130008F23Rik	T	C	17: 40,880,071	T156A	probably benign	Het
9230106D20Rik	A	T	10: 19,660,317		noncoding transcript	Het
Abca3	A	G	17: 24,366,197	D144G	probably benign	Het
Anxa2	T	A	9: 69,482,978	L121Q	probably damaging	Het
Anxa7	A	T	14: 20,462,664	I267N	probably damaging	Het
Asb14	A	T	14: 26,911,840	D334V	possibly damaging	Het
Batf3	A	G	1: 191,098,517	N20S	probably benign	Het
BC067074	T	A	13: 113,368,808	L2157Q	probably damaging	Het
Bub1b	A	G	2: 118,638,439	H895R	probably benign	Het
C1qtnf12	G	A	4: 155,965,703		probably null	Het
Cars	T	C	7: 143,576,648	I294V	probably damaging	Het
Ccdc142	G	A	6: 83,107,481	A527T	probably damaging	Het
Ccdc92	T	C	5: 124,836,178	N96D	probably benign	Het
Ceacam18	T	A	7: 43,639,456	D210E	probably benign	Het
Cenpe	A	G	3: 135,246,496	T1373A	probably damaging	Het
Cfap161	T	G	7: 83,791,724		probably null	Het
Cldn19	A	G	4: 119,255,793	D74G	probably benign	Het
Clec12a	A	G	6: 129,353,799	T115A	probably damaging	Het
Cox7a2l	T	A	17: 83,503,968	Q78L	probably benign	Het
Crot	T	C	5: 8,969,080	N491S	probably benign	Het
Ctr9	A	G	7: 111,043,958		probably null	Het
Cyp4f14	T	G	17: 32,911,235	D190A	probably damaging	Het
D630039A03Rik	C	T	4: 57,910,240	V191I	probably benign	Het
Dnah10	A	T	5: 124,761,279	N1124I	probably benign	Het
Duox1	T	A	2: 122,347,380	Y1548*	probably null	Het
E430018J23Rik	T	A	7: 127,391,909	H302L	probably damaging	Het
Epdr1	G	A	13: 19,594,603	Q6*	probably null	Het
Erbin	A	G	13: 103,860,069		probably null	Het
Ero1l	A	T	14: 45,287,760	I436K	probably damaging	Het
Exph5	A	T	9: 53,376,641	Q1674L	possibly damaging	Het
Fat4	A	T	3: 38,983,458	Y3753F	probably damaging	Het
Gaa	T	C	11: 119,283,272	V763A	probably damaging	Het
Gm8251	A	T	1: 44,057,074	N1621K	possibly damaging	Het
Golim4	G	A	3: 75,902,438	T216I	probably damaging	Het
Gpr83	G	T	9: 14,868,333	C269F	possibly damaging	Het
Gtf2f2	A	G	14: 76,007,703		probably null	Het
Gtf3c5	T	C	2: 28,579,682	Y70C	probably damaging	Het
Hao1	T	A	2: 134,530,664	R141S	probably benign	Het
Hecw2	T	C	1: 53,926,023	D548G	probably benign	Het
Hr	G	A	14: 70,572,037		probably null	Het
Hrg	A	C	16: 22,956,103	E161A	probably damaging	Het
Hydin	A	T	8: 110,510,894	N1933I	probably benign	Het
Itpr2	A	G	6: 146,328,332	L1255P	probably damaging	Het
Kcnma1	C	A	14: 23,330,929	D903Y	probably damaging	Het
Kif5c	T	C	2: 49,680,240		probably null	Het
Mgat5b	C	A	11: 116,977,788	H512Q	probably damaging	Het
Mttp	G	T	3: 138,107,280	Q545K	probably damaging	Het
Ncstn	CAGCTCCACGAAG	CAG	1: 172,071,471		probably null	Het
Nexn	A	G	3: 152,242,768	I386T	probably damaging	Het
Nrip3	A	G	7: 109,766,556	S85P	probably benign	Het
Nxpe2	T	C	9: 48,326,614	T114A	probably damaging	Het
Olfr1202	A	T	2: 88,818,058	I296F	probably benign	Het
Olfr126	C	T	17: 37,851,075	A161V	probably benign	Het
Olfr32	A	G	2: 90,138,587	L184S	probably damaging	Het
Olfr508	G	T	7: 108,630,648	V219F	possibly damaging	Het
Olfr543	A	G	7: 102,477,513	L119P	probably damaging	Het
Olr1	T	C	6: 129,488,932	N37S	possibly damaging	Het
Pax4	T	C	6: 28,443,447	Y290C	probably benign	Het
Pcdhb2	T	A	18: 37,295,985	V337D	probably damaging	Het
Pglyrp4	T	C	3: 90,733,003	Y187H	probably damaging	Het
Pi4ka	A	G	16: 17,280,750	M2017T	probably benign	Het
Pkdrej	T	C	15: 85,819,282	T818A	possibly damaging	Het
Pxk	C	T	14: 8,151,507	R441*	probably null	Het
Pygm	T	C	19: 6,397,607	I648T	possibly damaging	Het
Rab4a	A	T	8: 123,823,826	K15I	probably damaging	Het
Rasa3	T	C	8: 13,585,035	E428G	probably benign	Het
Rnf182	G	A	13: 43,668,534	W187*	probably null	Het
Rpl3	C	T	15: 80,080,390	V222M	possibly damaging	Het
Rtl9	C	T	X: 143,103,015	S1141F	possibly damaging	Het
S100a11	A	T	3: 93,526,121	I91F	probably benign	Het
Sfswap	C	T	5: 129,513,084	T215I	probably damaging	Het
Slit2	A	G	5: 48,304,030	D1456G	probably damaging	Het
Tex19.2	C	T	11: 121,117,491	V44I	probably benign	Het
Tex33	T	C	15: 78,386,388	Y60C	possibly damaging	Het
Tmem127	G	A	2: 127,256,174		probably null	Het
Tpd52	G	T	3: 8,947,519	N59K	probably damaging	Het
Trpc3	G	A	3: 36,638,546	P766S	possibly damaging	Het
Usp17la	T	A	7: 104,861,124	V312D	probably damaging	Het
Xirp2	A	G	2: 67,515,238	N2608D	possibly damaging	Het
Zscan25	C	A	5: 145,291,048	H507Q	possibly 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
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
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'- AGCATATTCGAGCTGCAGGG -3'
(R):5'- GGCGTTGGTGAATACTTACAAAGTC -3'

Sequencing Primer
(F):5'- CGAGCTGCAGGGCCCTG -3'
(R):5'- AAGTCATCCTCATAGTCCATGGG -3'

Posted On

2014-06-23