Mutagenetix > Incidental Mutation

Incidental Mutation 'R7447:Mtmr4'

577373

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

Accession Numbers

Essential gene?

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

Stock #

R7447 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

87592162-87616302 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 87611901 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 927 (C927F)

Ref Sequence

ENSEMBL: ENSMUSP00000099468 (fasta)

Gene Model

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

AlphaFold

Q91XS1

Predicted Effect

probably damaging
Transcript: ENSMUST00000092802
AA Change: C870F

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

SMART Domains

Protein: ENSMUSP00000090478
Gene: ENSMUSG00000018401
AA Change: C870F

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: C927F

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

SMART Domains

Protein: ENSMUSP00000099468
Gene: ENSMUSG00000018401
AA Change: C927F

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: C927F

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

SMART Domains

Protein: ENSMUSP00000112902
Gene: ENSMUSG00000018401
AA Change: C927F

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931440F15Rik	T	C	11: 29,824,122 (GRCm38)	D445G	probably benign	Het
Adck5	A	T	15: 76,595,196 (GRCm38)	I484F	possibly damaging	Het
Ago2	A	T	15: 73,138,032 (GRCm38)	N100K	probably benign	Het
Appl1	T	A	14: 26,959,452 (GRCm38)	K130*	probably null	Het
Arhgap39	G	A	15: 76,765,597 (GRCm38)		probably benign	Het
Axdnd1	A	G	1: 156,418,232 (GRCm38)		probably null	Het
C77080	C	A	4: 129,222,042 (GRCm38)	R988L	possibly damaging	Het
Camta1	A	T	4: 151,083,870 (GRCm38)	V1332E	probably benign	Het
Cd3g	A	G	9: 44,973,559 (GRCm38)	L129P	probably damaging	Het
Cd80	T	G	16: 38,473,889 (GRCm38)	S45A	probably benign	Het
Cdk12	A	T	11: 98,245,280 (GRCm38)	Q1120L	unknown	Het
Clip1	G	A	5: 123,653,633 (GRCm38)	S158F	probably benign	Het
Cntn3	C	A	6: 102,278,455 (GRCm38)	E161*	probably null	Het
Cyp3a59	A	C	5: 146,087,405 (GRCm38)	K67T	probably benign	Het
Dmxl1	T	C	18: 49,864,614 (GRCm38)	L623P	probably damaging	Het
Drd3	T	A	16: 43,817,063 (GRCm38)	Y208*	probably null	Het
Dusp10	A	T	1: 184,068,956 (GRCm38)	M307L	probably benign	Het
Dync2li1	A	T	17: 84,647,713 (GRCm38)	I267L	possibly damaging	Het
Edn3	C	A	2: 174,761,751 (GRCm38)	C97*	probably null	Het
Ehbp1l1	T	A	19: 5,719,428 (GRCm38)	T616S	possibly damaging	Het
Eif2a	C	T	3: 58,545,542 (GRCm38)	T246I	probably damaging	Het
Enpp5	G	A	17: 44,085,264 (GRCm38)	G356S	probably damaging	Het
Errfi1	A	G	4: 150,866,651 (GRCm38)	T179A	probably damaging	Het
Esyt3	G	A	9: 99,321,562 (GRCm38)	L450F	probably damaging	Het
Evx2	A	G	2: 74,659,104 (GRCm38)	S106P	probably benign	Het
Fam83a	T	G	15: 58,009,690 (GRCm38)	V305G	probably benign	Het
Gpr171	T	A	3: 59,098,439 (GRCm38)		probably null	Het
Grip1	A	G	10: 120,086,966 (GRCm38)	T1106A	probably benign	Het
Hecw1	A	G	13: 14,357,204 (GRCm38)	Y162H	probably damaging	Het
Hephl1	C	T	9: 15,097,882 (GRCm38)		probably null	Het
Hsp90aa1	A	G	12: 110,692,128 (GRCm38)	I693T	possibly damaging	Het
Ifit1bl2	T	A	19: 34,619,574 (GRCm38)	D214V	probably damaging	Het
Igsf10	T	C	3: 59,331,801 (GRCm38)	M320V	probably benign	Het
Kcnq2	A	G	2: 181,113,094 (GRCm38)	L220P	probably damaging	Het
Kpna1	C	A	16: 36,029,639 (GRCm38)	Q372K	probably damaging	Het
Lilrb4a	T	G	10: 51,491,053 (GRCm38)		probably null	Het
Ly75	C	A	2: 60,334,474 (GRCm38)	E787*	probably null	Het
Magi1	T	G	6: 93,745,581 (GRCm38)	S666R	possibly damaging	Het
Mif	C	A	10: 75,859,853 (GRCm38)	A39S	possibly damaging	Het
Mob4	G	A	1: 55,131,466 (GRCm38)		probably benign	Het
Myh1	A	G	11: 67,219,180 (GRCm38)	K1398R	probably benign	Het
Myo3a	T	C	2: 22,544,426 (GRCm38)	V873A	probably benign	Het
Naip5	G	T	13: 100,219,697 (GRCm38)	Q1137K	not run	Het
Naip5	T	C	13: 100,219,696 (GRCm38)	Q1137R	probably benign	Het
Nckap5l	G	A	15: 99,427,476 (GRCm38)	P382L	probably damaging	Het
Ngly1	T	C	14: 16,290,844 (GRCm38)	I442T	probably damaging	Het
Nlrp1a	T	C	11: 71,092,411 (GRCm38)	Y1243C	probably damaging	Het
Olfr1055	T	A	2: 86,346,806 (GRCm38)	H320L	possibly damaging	Het
Pcsk5	C	T	19: 17,510,236 (GRCm38)	G1027D	probably benign	Het
Pla2g2c	T	A	4: 138,731,616 (GRCm38)	I11N	probably benign	Het
Polr3d	A	G	14: 70,439,800 (GRCm38)	I331T	probably damaging	Het
Ppp4r4	A	G	12: 103,585,726 (GRCm38)	I293M	possibly damaging	Het
Prkce	G	T	17: 86,559,259 (GRCm38)	V516F	probably damaging	Het
Prss27	T	A	17: 24,045,709 (GRCm38)	L282Q	probably damaging	Het
Pxdn	A	G	12: 29,984,927 (GRCm38)	Y261C	probably damaging	Het
R3hcc1l	T	C	19: 42,562,662 (GRCm38)	S33P	probably benign	Het
Rab11fip3	G	C	17: 26,068,874 (GRCm38)	R102G	possibly damaging	Het
Rabggta	A	T	14: 55,719,316 (GRCm38)	N310K	probably null	Het
Rbbp8	T	A	18: 11,660,877 (GRCm38)	D15E	probably benign	Het
Rbm5	T	C	9: 107,746,179 (GRCm38)	Y486C	probably damaging	Het
Rptor	T	A	11: 119,884,979 (GRCm38)	F992Y	probably benign	Het
Slc29a2	T	G	19: 5,026,417 (GRCm38)	L111R	probably damaging	Het
Slc39a11	T	A	11: 113,562,023 (GRCm38)	I31L	probably benign	Het
Slc6a20a	T	A	9: 123,656,224 (GRCm38)	N311I	possibly damaging	Het
Slc8a1	A	G	17: 81,649,006 (GRCm38)	F201S	probably damaging	Het
Smtn	C	A	11: 3,530,196 (GRCm38)	V342L	probably benign	Het
Syne2	A	G	12: 76,028,079 (GRCm38)	T4598A	probably benign	Het
Tchp	A	G	5: 114,715,655 (GRCm38)	T267A	probably benign	Het
Tctex1d2	T	A	16: 32,425,271 (GRCm38)	V95E	probably damaging	Het
Tes3-ps	A	G	13: 49,494,032 (GRCm38)	E128G	possibly damaging	Het
Tigar	C	T	6: 127,088,166 (GRCm38)	G173E	probably benign	Het
Tmem171	T	C	13: 98,688,354 (GRCm38)	N256S	probably benign	Het
Tmem204	A	G	17: 25,058,296 (GRCm38)	I205T	probably damaging	Het
Tmem63a	A	G	1: 180,958,023 (GRCm38)	K240R	probably benign	Het
Tns2	C	T	15: 102,110,916 (GRCm38)	T446M	probably damaging	Het
Tnxb	A	T	17: 34,718,470 (GRCm38)	N2931I	probably damaging	Het
Trrap	G	T	5: 144,839,474 (GRCm38)	R2941L	probably damaging	Het
Ttc8	A	T	12: 98,943,872 (GRCm38)	R179S	probably damaging	Het
Ttll12	G	T	15: 83,586,975 (GRCm38)	T234N	probably damaging	Het
Ttn	G	T	2: 76,747,232 (GRCm38)	T24439K	probably damaging	Het
Ube2z	A	T	11: 96,055,910 (GRCm38)	I246N	possibly damaging	Het
Usp15	A	G	10: 123,175,881 (GRCm38)	Y104H	probably damaging	Het
Usp29	A	C	7: 6,961,220 (GRCm38)	T21P	possibly damaging	Het
Usp5	G	A	6: 124,821,114 (GRCm38)	A436V	probably damaging	Het
Utp20	A	G	10: 88,772,492 (GRCm38)	L1561S	probably damaging	Het
Xrn1	A	G	9: 96,045,494 (GRCm38)	M1444V	probably benign	Het
Zfp236	G	T	18: 82,633,690 (GRCm38)	Q885K	probably damaging	Het
Zfp831	C	A	2: 174,646,103 (GRCm38)	P857Q	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
R4816:Mtmr4	UTSW	11	87,604,097 (GRCm38)	missense	probably damaging	1.00
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
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'- TGTGCCGGATCTGATCTACAAG -3'
(R):5'- TCGGATGACTGGAAAACCAC -3'

Sequencing Primer
(F):5'- GCAGCTGTTGGAAAATCCTC -3'
(R):5'- GGATGACTGGAAAACCACATCCG -3'

Posted On

2019-10-07