Mutagenetix > Incidental Mutation

Incidental Mutation 'R7392:Mtmr4'

573526

Institutional Source

Beutler Lab

Gene Symbol

Mtmr4

Ensembl Gene

ENSMUSG00000018401

Gene Name

myotubularin related protein 4

Synonyms

ZFYVE11, FYVE-DSP2, ESTM44, FYVE zinc finger phosphatase

MMRRC Submission

045474-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.237) question?

Stock #

R7392 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

87482988-87507128 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 87495383 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 480 (L480Q)

Ref Sequence

ENSEMBL: ENSMUSP00000099468 (fasta)

Gene Model

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

AlphaFold

Q91XS1

Predicted Effect

probably damaging
Transcript: ENSMUST00000092802
AA Change: L480Q

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

SMART Domains

Protein: ENSMUSP00000090478
Gene: ENSMUSG00000018401
AA Change: L480Q

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: L480Q

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

SMART Domains

Protein: ENSMUSP00000099468
Gene: ENSMUSG00000018401
AA Change: L480Q

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: L480Q

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

SMART Domains

Protein: ENSMUSP00000112902
Gene: ENSMUSG00000018401
AA Change: L480Q

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	T	A	7: 41,275,990 (GRCm39)	F564L	probably damaging	Het
Abcc2	T	C	19: 43,797,126 (GRCm39)	I499T	probably damaging	Het
Adamts13	C	T	2: 26,879,336 (GRCm39)	R630C	probably damaging	Het
Adgrv1	A	T	13: 81,708,808 (GRCm39)	F1199I	probably damaging	Het
Agbl5	G	A	5: 31,048,115 (GRCm39)		probably null	Het
Anks1b	A	G	10: 90,516,648 (GRCm39)	D881G	possibly damaging	Het
Arap2	A	T	5: 62,855,728 (GRCm39)	S569R	possibly damaging	Het
Arhgap15	T	C	2: 43,953,786 (GRCm39)	S171P	possibly damaging	Het
Arhgef11	G	A	3: 87,624,482 (GRCm39)		probably null	Het
Baz1a	C	A	12: 54,945,550 (GRCm39)	L1271F	probably damaging	Het
Bdnf	A	C	2: 109,554,275 (GRCm39)	K216N	probably benign	Het
Bmp7	C	T	2: 172,711,998 (GRCm39)	D409N	probably damaging	Het
Bnip5	A	T	17: 29,127,351 (GRCm39)	D219E	probably benign	Het
Cacna1c	T	A	6: 118,718,881 (GRCm39)	I390F		Het
Chd8	A	G	14: 52,470,312 (GRCm39)	S433P	probably benign	Het
Clrn2	A	G	5: 45,621,251 (GRCm39)	E215G	possibly damaging	Het
Col19a1	T	G	1: 24,573,115 (GRCm39)	D219A	unknown	Het
Col2a1	G	A	15: 97,878,032 (GRCm39)	R1036*	probably null	Het
Copg1	T	A	6: 87,867,257 (GRCm39)	V110D	probably benign	Het
Cpd	C	T	11: 76,692,605 (GRCm39)	G744D	probably damaging	Het
Crygs	G	A	16: 22,625,252 (GRCm39)	P63L	probably benign	Het
Dcn	A	G	10: 97,345,860 (GRCm39)	D224G	probably damaging	Het
Dnah7a	T	C	1: 53,540,820 (GRCm39)	E2518G	probably benign	Het
Efcab6	C	A	15: 83,873,152 (GRCm39)	R197L	probably benign	Het
Efr3b	T	A	12: 4,019,588 (GRCm39)	Y723F	probably benign	Het
Enam	A	G	5: 88,649,523 (GRCm39)	N344S	probably damaging	Het
Erich4	A	G	7: 25,315,101 (GRCm39)	I58T	possibly damaging	Het
Esrp1	A	G	4: 11,338,809 (GRCm39)	V665A	probably benign	Het
Etf1	G	A	18: 35,039,103 (GRCm39)	T388I	probably benign	Het
Faf1	A	G	4: 109,652,040 (GRCm39)	T244A	probably benign	Het
Fbn1	T	C	2: 125,185,844 (GRCm39)	D1610G	probably damaging	Het
Fcgbpl1	C	T	7: 27,863,797 (GRCm39)	T2523M	possibly damaging	Het
Frem1	G	T	4: 82,932,064 (GRCm39)	F212L	probably benign	Het
Fuom	T	A	7: 139,681,073 (GRCm39)	D85V	probably damaging	Het
Gcfc2	T	C	6: 81,919,993 (GRCm39)		probably null	Het
Gpr37	C	T	6: 25,688,786 (GRCm39)	A104T	probably benign	Het
Hsp90ab1	G	C	17: 45,879,974 (GRCm39)	T514S	probably benign	Het
Ifnl2	A	G	7: 28,209,094 (GRCm39)	F74L	probably benign	Het
Ipo11	G	A	13: 107,028,199 (GRCm39)	R367*	probably null	Het
Itpr2	T	C	6: 146,260,838 (GRCm39)	D963G	possibly damaging	Het
Krt15	A	T	11: 100,026,386 (GRCm39)	V100E	possibly damaging	Het
Lrch3	T	A	16: 32,807,125 (GRCm39)	L466*	probably null	Het
Lrfn5	A	T	12: 61,887,090 (GRCm39)	T293S	probably benign	Het
Lrp5	A	G	19: 3,660,199 (GRCm39)	I955T	probably damaging	Het
Lrrc4b	C	T	7: 44,111,439 (GRCm39)	T437M	probably damaging	Het
Man1a	A	G	10: 53,795,283 (GRCm39)	Y657H	probably damaging	Het
Mapkap1	G	T	2: 34,325,166 (GRCm39)	R94L	probably damaging	Het
Mycbp2	T	C	14: 103,389,627 (GRCm39)	I3504M	probably damaging	Het
Mycbp2	A	T	14: 103,480,564 (GRCm39)	C1169S	probably damaging	Het
Myo15a	T	C	11: 60,396,802 (GRCm39)	S1455P		Het
Niban1	A	G	1: 151,571,975 (GRCm39)	T307A	probably damaging	Het
Nid2	A	G	14: 19,818,724 (GRCm39)	D406G	probably benign	Het
Nrip2	A	G	6: 128,381,913 (GRCm39)	I69V	probably benign	Het
Nthl1	G	A	17: 24,857,598 (GRCm39)	V266I	probably benign	Het
Or2ag16	T	C	7: 106,352,589 (GRCm39)	E2G	possibly damaging	Het
Or5an6	G	T	19: 12,371,829 (GRCm39)	L67F	probably damaging	Het
Or5b21	A	G	19: 12,839,951 (GRCm39)	T271A	probably benign	Het
Or5g23	A	C	2: 85,438,832 (GRCm39)	C141G	possibly damaging	Het
Or5p75-ps1	C	A	7: 108,107,291 (GRCm39)	H9Q	possibly damaging	Het
Or8k25	A	G	2: 86,243,496 (GRCm39)	V300A	probably benign	Het
Or8s5	A	G	15: 98,238,192 (GRCm39)	V226A	probably benign	Het
Pcdhb1	A	C	18: 37,398,171 (GRCm39)	S41R	possibly damaging	Het
Pdcd11	T	A	19: 47,116,436 (GRCm39)	F1529I	probably damaging	Het
Plcd3	C	A	11: 102,992,383 (GRCm39)		probably benign	Het
Qdpr	T	C	5: 45,596,718 (GRCm39)	M149V	probably benign	Het
R3hcc1	T	A	14: 69,943,329 (GRCm39)		probably null	Het
Rasgrf2	T	C	13: 92,041,856 (GRCm39)	Y392C		Het
Slc8a3	A	C	12: 81,361,577 (GRCm39)	V414G	probably damaging	Het
Slco1a6	A	G	6: 142,103,003 (GRCm39)	S54P	probably benign	Het
Sos1	C	A	17: 80,731,629 (GRCm39)	V624F	probably damaging	Het
Spdef	T	C	17: 27,936,262 (GRCm39)	D227G	probably benign	Het
Sptb	G	T	12: 76,671,003 (GRCm39)	Q447K	probably damaging	Het
Srsf12	A	T	4: 33,209,265 (GRCm39)	R62W	unknown	Het
Stag3	T	C	5: 138,289,628 (GRCm39)	L266P	probably damaging	Het
Sult2b1	T	C	7: 45,391,862 (GRCm39)		probably benign	Het
Taf1a	A	G	1: 183,190,095 (GRCm39)	T66A		Het
Tfg	A	T	16: 56,532,972 (GRCm39)		probably null	Het
Trim34b	A	G	7: 103,985,604 (GRCm39)	N413S	probably benign	Het
Txndc15	T	A	13: 55,869,399 (GRCm39)	M184K	probably damaging	Het
Umodl1	A	C	17: 31,201,306 (GRCm39)	S412R	probably damaging	Het
Zbtb8b	T	A	4: 129,326,683 (GRCm39)	M161L	probably benign	Het
Zfp597	A	T	16: 3,684,369 (GRCm39)	V129E	probably benign	Het
Zfp790	T	C	7: 29,528,050 (GRCm39)	I245T	possibly damaging	Het

Other mutations in Mtmr4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00337:Mtmr4	APN	11	87,502,750 (GRCm39)	missense	probably benign	0.29
IGL01134:Mtmr4	APN	11	87,494,893 (GRCm39)	missense	probably damaging	1.00
IGL01317:Mtmr4	APN	11	87,493,230 (GRCm39)	unclassified	probably benign
IGL01544:Mtmr4	APN	11	87,488,437 (GRCm39)	splice site	probably benign
IGL01574:Mtmr4	APN	11	87,491,473 (GRCm39)	missense	probably benign	0.01
IGL01807:Mtmr4	APN	11	87,494,976 (GRCm39)	missense	possibly damaging	0.55
IGL02059:Mtmr4	APN	11	87,491,950 (GRCm39)	missense	possibly damaging	0.66
IGL03049:Mtmr4	APN	11	87,505,060 (GRCm39)	missense	probably damaging	1.00
IGL03196:Mtmr4	APN	11	87,491,609 (GRCm39)	missense	possibly damaging	0.92
IGL03214:Mtmr4	APN	11	87,488,519 (GRCm39)	missense	probably damaging	1.00
IGL03258:Mtmr4	APN	11	87,502,829 (GRCm39)	missense	possibly damaging	0.63
Hippie	UTSW	11	87,504,309 (GRCm39)	missense	probably damaging	1.00
incharge	UTSW	11	87,501,868 (GRCm39)	nonsense	probably null
PIT4802001:Mtmr4	UTSW	11	87,501,953 (GRCm39)	missense	probably benign
R0009:Mtmr4	UTSW	11	87,502,334 (GRCm39)	missense	probably benign	0.02
R0564:Mtmr4	UTSW	11	87,489,714 (GRCm39)	missense	probably damaging	1.00
R0637:Mtmr4	UTSW	11	87,501,890 (GRCm39)	missense	probably benign	0.30
R0780:Mtmr4	UTSW	11	87,502,266 (GRCm39)	missense	probably benign	0.03
R1490:Mtmr4	UTSW	11	87,503,051 (GRCm39)	missense	probably damaging	1.00
R1550:Mtmr4	UTSW	11	87,504,342 (GRCm39)	missense	probably damaging	1.00
R1777:Mtmr4	UTSW	11	87,493,656 (GRCm39)	missense	probably damaging	1.00
R1828:Mtmr4	UTSW	11	87,502,943 (GRCm39)	missense	probably benign	0.26
R2040:Mtmr4	UTSW	11	87,495,916 (GRCm39)	missense	probably damaging	1.00
R2088:Mtmr4	UTSW	11	87,501,793 (GRCm39)	missense	probably damaging	0.98
R2497:Mtmr4	UTSW	11	87,491,649 (GRCm39)	missense	probably damaging	1.00
R2993:Mtmr4	UTSW	11	87,495,823 (GRCm39)	missense	probably damaging	1.00
R3857:Mtmr4	UTSW	11	87,488,088 (GRCm39)	missense	probably damaging	0.98
R3858:Mtmr4	UTSW	11	87,488,088 (GRCm39)	missense	probably damaging	0.98
R4614:Mtmr4	UTSW	11	87,501,761 (GRCm39)	missense	probably damaging	0.99
R4615:Mtmr4	UTSW	11	87,501,761 (GRCm39)	missense	probably damaging	0.99
R4616:Mtmr4	UTSW	11	87,501,761 (GRCm39)	missense	probably damaging	0.99
R4816:Mtmr4	UTSW	11	87,494,923 (GRCm39)	missense	probably damaging	1.00
R5454:Mtmr4	UTSW	11	87,501,868 (GRCm39)	nonsense	probably null
R5502:Mtmr4	UTSW	11	87,504,904 (GRCm39)	missense	probably damaging	1.00
R5566:Mtmr4	UTSW	11	87,495,356 (GRCm39)	missense	probably damaging	1.00
R5833:Mtmr4	UTSW	11	87,495,875 (GRCm39)	nonsense	probably null
R5907:Mtmr4	UTSW	11	87,502,876 (GRCm39)	missense	probably damaging	0.99
R5980:Mtmr4	UTSW	11	87,494,977 (GRCm39)	missense	probably damaging	1.00
R6077:Mtmr4	UTSW	11	87,501,845 (GRCm39)	missense	probably damaging	1.00
R6434:Mtmr4	UTSW	11	87,504,309 (GRCm39)	missense	probably damaging	1.00
R6521:Mtmr4	UTSW	11	87,504,353 (GRCm39)	missense	possibly damaging	0.86
R7141:Mtmr4	UTSW	11	87,491,439 (GRCm39)	missense	probably damaging	1.00
R7182:Mtmr4	UTSW	11	87,495,431 (GRCm39)	critical splice donor site	probably null
R7290:Mtmr4	UTSW	11	87,502,063 (GRCm39)	missense	probably benign
R7350:Mtmr4	UTSW	11	87,491,476 (GRCm39)	missense	probably damaging	0.98
R7447:Mtmr4	UTSW	11	87,502,727 (GRCm39)	missense	probably damaging	1.00
R7530:Mtmr4	UTSW	11	87,502,702 (GRCm39)	missense	probably damaging	1.00
R7660:Mtmr4	UTSW	11	87,495,406 (GRCm39)	missense	probably damaging	0.99
R7713:Mtmr4	UTSW	11	87,488,550 (GRCm39)	missense	probably damaging	1.00
R7823:Mtmr4	UTSW	11	87,503,015 (GRCm39)	missense	probably damaging	1.00
R7944:Mtmr4	UTSW	11	87,495,254 (GRCm39)	missense	probably damaging	1.00
R7945:Mtmr4	UTSW	11	87,495,254 (GRCm39)	missense	probably damaging	1.00
R8010:Mtmr4	UTSW	11	87,489,690 (GRCm39)	missense	probably damaging	1.00
R8116:Mtmr4	UTSW	11	87,502,756 (GRCm39)	nonsense	probably null
R8544:Mtmr4	UTSW	11	87,502,735 (GRCm39)	missense	possibly damaging	0.86
R8559:Mtmr4	UTSW	11	87,494,950 (GRCm39)	missense	probably damaging	1.00
R8971:Mtmr4	UTSW	11	87,493,626 (GRCm39)	missense	probably benign	0.13
R9562:Mtmr4	UTSW	11	87,493,241 (GRCm39)	missense	probably damaging	1.00
R9673:Mtmr4	UTSW	11	87,504,916 (GRCm39)	missense	probably damaging	1.00
R9673:Mtmr4	UTSW	11	87,503,138 (GRCm39)	missense	probably damaging	1.00
R9797:Mtmr4	UTSW	11	87,494,962 (GRCm39)	missense	probably damaging	1.00
X0062:Mtmr4	UTSW	11	87,502,651 (GRCm39)	missense	probably damaging	0.99
Z1177:Mtmr4	UTSW	11	87,502,706 (GRCm39)	missense	probably benign	0.41

Predicted Primers

PCR Primer
(F):5'- TTTCCAGAGCTGCCTTGTG -3'
(R):5'- CGTCCGTTTATAGATGTTGCGC -3'

Sequencing Primer
(F):5'- CAGAGCTGCCTTGTGCTTAGAC -3'
(R):5'- ATAGATGTTGCGCTTCTCTCG -3'

Posted On

2019-09-13