Mutagenetix > Incidental Mutation

Incidental Mutation 'R8116:Mtmr4'

631219

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

067545-MU

Accession Numbers

Essential gene?

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

Stock #

R8116 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

87592162-87616302 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 87611930 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 937 (R937*)

Ref Sequence

ENSEMBL: ENSMUSP00000099468 (fasta)

Gene Model

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

AlphaFold

Q91XS1

Predicted Effect

probably null
Transcript: ENSMUST00000092802
AA Change: R880*

SMART Domains

Protein: ENSMUSP00000090478
Gene: ENSMUSG00000018401
AA Change: R880*

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 null
Transcript: ENSMUST00000103179
AA Change: R937*

SMART Domains

Protein: ENSMUSP00000099468
Gene: ENSMUSG00000018401
AA Change: R937*

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 null
Transcript: ENSMUST00000119628
AA Change: R937*

SMART Domains

Protein: ENSMUSP00000112902
Gene: ENSMUSG00000018401
AA Change: R937*

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: 99.8%
3x: 99.6%
10x: 98.5%
20x: 93.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	A	T	11: 110,091,594	N7K	probably benign	Het
Akap9	T	A	5: 4,061,183	D3081E	probably benign	Het
Amer2	G	A	14: 60,379,405	A350T	probably damaging	Het
Amotl1	A	G	9: 14,555,572		probably null	Het
Ankib1	A	T	5: 3,702,995	V651E	probably damaging	Het
Aox1	T	C	1: 58,076,124	V756A	probably damaging	Het
Arap2	A	C	5: 62,730,611	I464S	probably benign	Het
Atp8a2	A	C	14: 60,026,208	M359R	probably damaging	Het
Aunip	T	C	4: 134,523,307	S188P	possibly damaging	Het
Cdt1	A	G	8: 122,571,989	E455G	probably benign	Het
Cyp2r1	G	T	7: 114,550,355	H475N	probably benign	Het
Dnah7a	G	T	1: 53,503,890	H2374N	probably benign	Het
Dsc2	C	T	18: 20,032,274	G881R	possibly damaging	Het
Dst	G	A	1: 34,274,180	A4343T	probably benign	Het
Efcab3	A	G	11: 105,111,851	D304G	possibly damaging	Het
Efcc1	T	C	6: 87,751,790	L409P	probably damaging	Het
Eno1	G	T	4: 150,241,069	S37I	probably damaging	Het
Ermp1	A	T	19: 29,623,796	L517Q	probably damaging	Het
Farp1	T	G	14: 121,233,820	I196S	probably damaging	Het
Fbxo21	A	G	5: 117,990,854	T310A	possibly damaging	Het
Fbxo31	C	T	8: 121,560,388	V149M	probably damaging	Het
Ggcx	C	A	6: 72,429,528	T658N	possibly damaging	Het
Gm884	A	T	11: 103,543,289	M3018K	unknown	Het
Gpc5	A	C	14: 115,399,225	H440P	probably damaging	Het
H13	C	T	2: 152,695,526	A297V	probably damaging	Het
H2-DMb1	T	A	17: 34,155,469	L31Q	probably damaging	Het
Ifi207	G	A	1: 173,730,180	P331S	unknown	Het
Il11ra1	G	T	4: 41,766,251	A263S	probably benign	Het
Il1a	C	A	2: 129,302,944	V185F	probably damaging	Het
Ippk	C	T	13: 49,446,342	P226S		Het
Kdm4d	T	A	9: 14,463,941	K207M	probably damaging	Het
Lrrc4b	T	C	7: 44,461,109	L135P	probably damaging	Het
Lrrk1	A	G	7: 66,262,623	Y1730H	possibly damaging	Het
Mcpt2	C	A	14: 56,042,206	A18D	probably damaging	Het
Muc16	T	A	9: 18,658,737	T829S	unknown	Het
Mum1	G	A	10: 80,240,397	G474S	probably damaging	Het
Myof	A	C	19: 37,932,719	I1365S	probably damaging	Het
Npc2	C	T	12: 84,760,838	R82Q	probably benign	Het
Olfr1123	T	A	2: 87,418,737	S228T	probably damaging	Het
Olfr117	G	A	17: 37,659,740	L198F	probably damaging	Het
Olfr1295	T	C	2: 111,565,438	D2G	probably benign	Het
Olfr418	T	A	1: 173,270,480	F102I	possibly damaging	Het
Olfr918	A	T	9: 38,673,168	I92N	possibly damaging	Het
Olfr926	T	A	9: 38,877,730	S185T	probably damaging	Het
Olfr934	A	T	9: 38,982,873	M57K	probably damaging	Het
Pdzph1	T	C	17: 58,975,143	N48S	probably benign	Het
Plce1	A	T	19: 38,524,818	H187L	probably benign	Het
Pramel6	G	T	2: 87,508,464	V3F	probably benign	Het
Prr5l	CCTCGCTCGCTCGCTCGC	CCTCGCTCGCTCGC	2: 101,797,574		probably null	Het
Rabgap1l	A	G	1: 160,702,442	Y358H	probably benign	Het
Rbbp8	T	C	18: 11,722,670	S625P	probably damaging	Het
Rhot1	A	T	11: 80,251,053	K461I	probably benign	Het
Rpa1	G	A	11: 75,302,675	T610I	possibly damaging	Het
Ryr1	G	T	7: 29,110,883	H316N	probably benign	Het
Shprh	T	C	10: 11,213,461	S1648P	probably damaging	Het
Sipa1	A	T	19: 5,652,112	D923E	possibly damaging	Het
Spata6	A	G	4: 111,828,320	Y474C	possibly damaging	Het
Sptbn1	A	T	11: 30,139,117	I715N	probably damaging	Het
Stab1	A	T	14: 31,158,953	D627E	possibly damaging	Het
Stard9	T	A	2: 120,664,939	C98*	probably null	Het
Tfpi2	T	C	6: 3,963,872	T187A	probably damaging	Het
Tmem63a	G	T	1: 180,960,483	K267N	probably benign	Het
Topaz1	C	T	9: 122,775,643	A1104V	probably benign	Het
Trmt11	A	G	10: 30,566,494	I231T	possibly damaging	Het
Utp15	G	A	13: 98,250,863	T401I	probably benign	Het
Vmn2r13	T	C	5: 109,175,060	K121R	probably benign	Het
Xab2	C	T	8: 3,613,830	R363H	probably damaging	Het
Zfand2b	T	A	1: 75,168,860	F3L	possibly damaging	Het
Zfyve28	A	T	5: 34,217,600	S357T	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
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
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'- ATTGGAGTTGGCCCGAAAGC -3'
(R):5'- AAAGGGGAGTCCATCATCATCC -3'

Sequencing Primer
(F):5'- CCAATTTCTCAGAGCCAGATCAGTG -3'
(R):5'- GGAGTCCATCATCATCCAGGTAG -3'

Posted On

2020-06-30