Mutagenetix > Incidental Mutation

Incidental Mutation 'R6887:Zfyve26'

537006

Institutional Source

Beutler Lab

Gene Symbol

Zfyve26

Ensembl Gene

ENSMUSG00000066440

Gene Name

zinc finger, FYVE domain containing 26

Synonyms

A630028O16Rik, LOC380767, 9330197E15Rik

MMRRC Submission

044981-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6887 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

79232346-79296304 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 79266449 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 54 (I54T)

Ref Sequence

ENSEMBL: ENSMUSP00000151290 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021547] [ENSMUST00000218377] [ENSMUST00000219912]

AlphaFold

Q5DU37

Predicted Effect

probably damaging
Transcript: ENSMUST00000021547
AA Change: I1483T

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000021547
Gene: ENSMUSG00000066440
AA Change: I1483T

Domain	Start	End	E-Value	Type
low complexity region	8	24	N/A	INTRINSIC
low complexity region	233	244	N/A	INTRINSIC
low complexity region	752	775	N/A	INTRINSIC
low complexity region	778	796	N/A	INTRINSIC
low complexity region	982	1001	N/A	INTRINSIC
low complexity region	1073	1091	N/A	INTRINSIC
low complexity region	1104	1115	N/A	INTRINSIC
low complexity region	1151	1163	N/A	INTRINSIC
low complexity region	1177	1192	N/A	INTRINSIC
low complexity region	1228	1241	N/A	INTRINSIC
low complexity region	1565	1584	N/A	INTRINSIC
low complexity region	1743	1770	N/A	INTRINSIC
FYVE	1794	1863	1.49e-27	SMART
low complexity region	2486	2498	N/A	INTRINSIC
low complexity region	2517	2528	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000218377

Predicted Effect

probably damaging
Transcript: ENSMUST00000219912
AA Change: I54T

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

Meta Mutation Damage Score

0.1628

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.1%

Validation Efficiency

100% (39/39)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which contains a FYVE zinc finger binding domain. The presence of this domain is thought to target these proteins to membrane lipids through interaction with phospholipids in the membrane. Mutations in this gene are associated with autosomal recessive spastic paraplegia-15. [provided by RefSeq, Oct 2008]
PHENOTYPE: Mice homozygoys for a null allele display a late-onset spastic gait disorder with cerebellar ataxia, axon degeneration, and progressive loss of cortical motoneurons and Purkinje cells preceded by accumulation of autofluorescent, electron-dense, membrane-enclosed material in lysosomal structures. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acan	G	A	7: 79,092,483 (GRCm38)	V543I	probably damaging	Het
Adcy5	A	G	16: 35,298,590 (GRCm38)	I1104V	possibly damaging	Het
Adgrl4	A	T	3: 151,542,733 (GRCm38)	I681F	possibly damaging	Het
Adgrv1	T	A	13: 81,528,701 (GRCm38)	M2004L	probably benign	Het
Anapc1	A	G	2: 128,659,768 (GRCm38)	S785P	possibly damaging	Het
Ap3d1	A	T	10: 80,723,698 (GRCm38)	I242N	probably damaging	Het
Arhgap5	T	C	12: 52,519,144 (GRCm38)	L966P	probably benign	Het
Atp8a1	T	C	5: 67,738,451 (GRCm38)	T547A	probably benign	Het
Cadps	A	G	14: 12,505,811 (GRCm38)	F753S	probably damaging	Het
Cdc20b	T	C	13: 113,078,653 (GRCm38)	S252P	possibly damaging	Het
Cep63	A	G	9: 102,625,927 (GRCm38)		probably benign	Het
Chrna5	G	T	9: 55,005,133 (GRCm38)	V302L	probably benign	Het
Crtc2	A	G	3: 90,261,071 (GRCm38)	T374A	probably damaging	Het
Dmtf1	T	G	5: 9,137,149 (GRCm38)	D140A	probably damaging	Het
Exosc8	C	T	3: 54,733,699 (GRCm38)	V39M	probably damaging	Het
Fam135b	A	C	15: 71,463,315 (GRCm38)	S677A	probably damaging	Het
Hif1an	T	C	19: 44,563,389 (GRCm38)	Y93H	probably damaging	Het
Hrc	T	C	7: 45,335,664 (GRCm38)	F80L	probably benign	Het
Jmjd1c	A	G	10: 67,189,820 (GRCm38)	T139A	possibly damaging	Het
Kdr	T	G	5: 75,968,451 (GRCm38)	R178S	probably benign	Het
Lrrc61	A	C	6: 48,568,432 (GRCm38)	N63T	probably damaging	Het
Mrc1	C	T	2: 14,325,237 (GRCm38)	A1219V	possibly damaging	Het
Neto1	T	C	18: 86,498,635 (GRCm38)	V359A	probably benign	Het
Ngly1	T	C	14: 16,281,836 (GRCm38)	I364T	probably benign	Het
Nisch	C	T	14: 31,185,344 (GRCm38)		probably benign	Het
Or2y8	C	A	11: 52,145,352 (GRCm38)	M59I	probably benign	Het
Prrc2a	T	C	17: 35,155,675 (GRCm38)	D1333G	probably damaging	Het
Raly	G	T	2: 154,861,910 (GRCm38)	V134F	probably damaging	Het
Rbm6	T	C	9: 107,852,231 (GRCm38)	Y406C	probably damaging	Het
Robo4	G	C	9: 37,402,067 (GRCm38)	E6Q	possibly damaging	Het
Scnn1g	C	A	7: 121,760,444 (GRCm38)	S383R	probably benign	Het
Sgtb	T	C	13: 104,111,151 (GRCm38)	W13R	probably benign	Het
Slit3	T	C	11: 35,544,806 (GRCm38)		probably null	Het
Tbc1d32	G	A	10: 56,151,811 (GRCm38)	Q732*	probably null	Het
Tek	T	A	4: 94,804,944 (GRCm38)	C247S	probably damaging	Het
Tmf1	A	T	6: 97,176,838 (GRCm38)	D91E	probably damaging	Het
Usp39	A	G	6: 72,333,157 (GRCm38)	L326P	probably damaging	Het
Vmn2r7	A	T	3: 64,690,827 (GRCm38)	C770S	probably damaging	Het
Wdr31	C	T	4: 62,457,565 (GRCm38)	G58R	probably benign	Het

Other mutations in Zfyve26

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00090:Zfyve26	APN	12	79,249,460 (GRCm38)	unclassified	probably benign
IGL00940:Zfyve26	APN	12	79,280,900 (GRCm38)	missense	probably benign
IGL01148:Zfyve26	APN	12	79,260,870 (GRCm38)	missense	probably benign	0.01
IGL01347:Zfyve26	APN	12	79,252,183 (GRCm38)	splice site	probably null
IGL01472:Zfyve26	APN	12	79,276,343 (GRCm38)	missense	probably benign	0.01
IGL01490:Zfyve26	APN	12	79,244,373 (GRCm38)	missense	probably damaging	1.00
IGL01516:Zfyve26	APN	12	79,287,851 (GRCm38)	missense	probably benign	0.37
IGL01642:Zfyve26	APN	12	79,261,574 (GRCm38)	splice site	probably null
IGL01689:Zfyve26	APN	12	79,284,053 (GRCm38)	missense	possibly damaging	0.71
IGL01877:Zfyve26	APN	12	79,287,444 (GRCm38)	missense	probably damaging	1.00
IGL01997:Zfyve26	APN	12	79,244,400 (GRCm38)	missense	probably benign	0.00
IGL02077:Zfyve26	APN	12	79,276,395 (GRCm38)	missense	possibly damaging	0.54
IGL02437:Zfyve26	APN	12	79,268,847 (GRCm38)	missense	probably benign	0.01
IGL02933:Zfyve26	APN	12	79,280,080 (GRCm38)	missense	possibly damaging	0.94
IGL02937:Zfyve26	APN	12	79,239,020 (GRCm38)	missense	probably benign	0.08
IGL02982:Zfyve26	APN	12	79,263,870 (GRCm38)	missense	probably damaging	0.99
IGL03064:Zfyve26	APN	12	79,261,791 (GRCm38)	missense	probably damaging	1.00
IGL03086:Zfyve26	APN	12	79,295,564 (GRCm38)	missense	probably damaging	0.96
IGL03146:Zfyve26	APN	12	79,284,072 (GRCm38)	nonsense	probably null
challenge	UTSW	12	79,270,836 (GRCm38)	critical splice donor site	probably null
fourteener	UTSW	12	79,255,263 (GRCm38)	missense	probably damaging	1.00
IGL02799:Zfyve26	UTSW	12	79,273,310 (GRCm38)	missense	probably benign	0.28
R0318:Zfyve26	UTSW	12	79,276,281 (GRCm38)	missense	probably damaging	1.00
R0513:Zfyve26	UTSW	12	79,244,484 (GRCm38)	missense	probably damaging	1.00
R0582:Zfyve26	UTSW	12	79,246,222 (GRCm38)	missense	probably damaging	1.00
R0586:Zfyve26	UTSW	12	79,268,728 (GRCm38)	missense	possibly damaging	0.96
R0718:Zfyve26	UTSW	12	79,265,802 (GRCm38)	splice site	probably benign
R0738:Zfyve26	UTSW	12	79,295,534 (GRCm38)	missense	probably damaging	1.00
R0781:Zfyve26	UTSW	12	79,280,067 (GRCm38)	missense	probably damaging	0.99
R0894:Zfyve26	UTSW	12	79,273,598 (GRCm38)	missense	possibly damaging	0.80
R1109:Zfyve26	UTSW	12	79,272,127 (GRCm38)	missense	probably damaging	1.00
R1110:Zfyve26	UTSW	12	79,280,067 (GRCm38)	missense	probably damaging	0.99
R1186:Zfyve26	UTSW	12	79,263,949 (GRCm38)	missense	probably damaging	1.00
R1295:Zfyve26	UTSW	12	79,274,920 (GRCm38)	missense	probably damaging	1.00
R1430:Zfyve26	UTSW	12	79,282,817 (GRCm38)	missense	probably benign	0.07
R1439:Zfyve26	UTSW	12	79,252,163 (GRCm38)	missense	probably benign	0.03
R1517:Zfyve26	UTSW	12	79,252,151 (GRCm38)	missense	probably damaging	0.98
R1553:Zfyve26	UTSW	12	79,287,761 (GRCm38)	missense	probably benign	0.00
R1721:Zfyve26	UTSW	12	79,261,799 (GRCm38)	missense	possibly damaging	0.94
R1758:Zfyve26	UTSW	12	79,238,944 (GRCm38)	missense	probably damaging	1.00
R1779:Zfyve26	UTSW	12	79,278,463 (GRCm38)	missense	probably damaging	1.00
R1785:Zfyve26	UTSW	12	79,268,434 (GRCm38)	missense	possibly damaging	0.48
R1786:Zfyve26	UTSW	12	79,268,434 (GRCm38)	missense	possibly damaging	0.48
R1826:Zfyve26	UTSW	12	79,269,049 (GRCm38)	missense	probably damaging	1.00
R1833:Zfyve26	UTSW	12	79,286,258 (GRCm38)	missense	probably benign	0.36
R1868:Zfyve26	UTSW	12	79,261,799 (GRCm38)	missense	possibly damaging	0.94
R1900:Zfyve26	UTSW	12	79,264,351 (GRCm38)	missense	probably damaging	1.00
R1928:Zfyve26	UTSW	12	79,239,970 (GRCm38)	nonsense	probably null
R1982:Zfyve26	UTSW	12	79,255,243 (GRCm38)	missense	possibly damaging	0.55
R2062:Zfyve26	UTSW	12	79,284,032 (GRCm38)	splice site	probably null
R2071:Zfyve26	UTSW	12	79,287,446 (GRCm38)	missense	possibly damaging	0.95
R2130:Zfyve26	UTSW	12	79,268,434 (GRCm38)	missense	possibly damaging	0.48
R2132:Zfyve26	UTSW	12	79,268,434 (GRCm38)	missense	possibly damaging	0.48
R2133:Zfyve26	UTSW	12	79,268,434 (GRCm38)	missense	possibly damaging	0.48
R2135:Zfyve26	UTSW	12	79,246,052 (GRCm38)	missense	possibly damaging	0.80
R2207:Zfyve26	UTSW	12	79,246,087 (GRCm38)	missense	probably damaging	0.99
R2280:Zfyve26	UTSW	12	79,275,040 (GRCm38)	missense	probably damaging	1.00
R2352:Zfyve26	UTSW	12	79,284,116 (GRCm38)	missense	probably damaging	1.00
R2398:Zfyve26	UTSW	12	79,282,799 (GRCm38)	splice site	probably null
R3084:Zfyve26	UTSW	12	79,265,683 (GRCm38)	splice site	probably benign
R3086:Zfyve26	UTSW	12	79,265,683 (GRCm38)	splice site	probably benign
R4626:Zfyve26	UTSW	12	79,269,070 (GRCm38)	missense	possibly damaging	0.95
R4727:Zfyve26	UTSW	12	79,244,396 (GRCm38)	missense	probably benign	0.16
R4908:Zfyve26	UTSW	12	79,249,695 (GRCm38)	splice site	probably null
R4926:Zfyve26	UTSW	12	79,275,011 (GRCm38)	missense	probably benign
R4990:Zfyve26	UTSW	12	79,287,833 (GRCm38)	missense	probably damaging	1.00
R4999:Zfyve26	UTSW	12	79,280,385 (GRCm38)	nonsense	probably null
R5029:Zfyve26	UTSW	12	79,286,323 (GRCm38)	missense	probably damaging	0.99
R5070:Zfyve26	UTSW	12	79,255,361 (GRCm38)	missense	probably damaging	1.00
R5100:Zfyve26	UTSW	12	79,280,058 (GRCm38)	nonsense	probably null
R5252:Zfyve26	UTSW	12	79,268,982 (GRCm38)	missense	probably damaging	1.00
R5318:Zfyve26	UTSW	12	79,270,850 (GRCm38)	missense	probably benign	0.35
R5509:Zfyve26	UTSW	12	79,246,521 (GRCm38)	missense	probably damaging	1.00
R5574:Zfyve26	UTSW	12	79,239,924 (GRCm38)	missense	possibly damaging	0.63
R5735:Zfyve26	UTSW	12	79,273,373 (GRCm38)	missense	probably damaging	0.96
R5756:Zfyve26	UTSW	12	79,264,357 (GRCm38)	missense	probably damaging	1.00
R5773:Zfyve26	UTSW	12	79,287,737 (GRCm38)	missense	probably damaging	1.00
R5834:Zfyve26	UTSW	12	79,266,537 (GRCm38)	missense	probably benign	0.30
R6075:Zfyve26	UTSW	12	79,293,854 (GRCm38)	missense	possibly damaging	0.74
R6184:Zfyve26	UTSW	12	79,268,727 (GRCm38)	missense	probably damaging	0.98
R6235:Zfyve26	UTSW	12	79,249,599 (GRCm38)	missense	probably damaging	1.00
R6247:Zfyve26	UTSW	12	79,282,984 (GRCm38)	missense	probably benign	0.04
R6320:Zfyve26	UTSW	12	79,240,002 (GRCm38)	missense	probably damaging	0.97
R6548:Zfyve26	UTSW	12	79,238,335 (GRCm38)	missense	probably damaging	1.00
R7133:Zfyve26	UTSW	12	79,284,152 (GRCm38)	missense	probably benign	0.06
R7152:Zfyve26	UTSW	12	79,279,114 (GRCm38)	missense	probably benign	0.42
R7165:Zfyve26	UTSW	12	79,280,405 (GRCm38)	missense	probably damaging	1.00
R7181:Zfyve26	UTSW	12	79,268,408 (GRCm38)	missense	probably benign	0.00
R7223:Zfyve26	UTSW	12	79,246,171 (GRCm38)	missense	probably damaging	0.99
R7296:Zfyve26	UTSW	12	79,278,372 (GRCm38)	splice site	probably null
R7299:Zfyve26	UTSW	12	79,282,984 (GRCm38)	missense	probably benign	0.01
R7301:Zfyve26	UTSW	12	79,282,984 (GRCm38)	missense	probably benign	0.01
R7302:Zfyve26	UTSW	12	79,251,168 (GRCm38)	missense	probably damaging	1.00
R7355:Zfyve26	UTSW	12	79,240,054 (GRCm38)	missense	probably damaging	1.00
R7466:Zfyve26	UTSW	12	79,287,807 (GRCm38)	missense	probably benign	0.00
R7540:Zfyve26	UTSW	12	79,268,676 (GRCm38)	missense	probably damaging	0.99
R7552:Zfyve26	UTSW	12	79,290,957 (GRCm38)	missense	probably damaging	0.97
R7762:Zfyve26	UTSW	12	79,268,635 (GRCm38)	missense	probably benign	0.02
R7806:Zfyve26	UTSW	12	79,280,355 (GRCm38)	critical splice donor site	probably null
R7821:Zfyve26	UTSW	12	79,255,324 (GRCm38)	missense	probably damaging	1.00
R8141:Zfyve26	UTSW	12	79,268,557 (GRCm38)	missense	possibly damaging	0.79
R8190:Zfyve26	UTSW	12	79,280,836 (GRCm38)	missense	probably benign	0.00
R8207:Zfyve26	UTSW	12	79,260,831 (GRCm38)	missense	probably damaging	1.00
R8210:Zfyve26	UTSW	12	79,255,263 (GRCm38)	missense	probably damaging	1.00
R8500:Zfyve26	UTSW	12	79,287,680 (GRCm38)	missense	probably damaging	0.99
R8686:Zfyve26	UTSW	12	79,287,453 (GRCm38)	missense	probably benign
R8758:Zfyve26	UTSW	12	79,264,309 (GRCm38)	critical splice donor site	probably benign
R8826:Zfyve26	UTSW	12	79,238,968 (GRCm38)	missense	probably benign	0.05
R8877:Zfyve26	UTSW	12	79,287,378 (GRCm38)	missense	probably benign	0.05
R9067:Zfyve26	UTSW	12	79,272,141 (GRCm38)	missense	probably damaging	0.99
R9195:Zfyve26	UTSW	12	79,264,394 (GRCm38)	missense	probably benign	0.12
R9269:Zfyve26	UTSW	12	79,276,302 (GRCm38)	missense	possibly damaging	0.73
R9273:Zfyve26	UTSW	12	79,270,836 (GRCm38)	critical splice donor site	probably null
R9340:Zfyve26	UTSW	12	79,274,906 (GRCm38)	nonsense	probably null
R9348:Zfyve26	UTSW	12	79,268,457 (GRCm38)	missense	possibly damaging	0.81
R9482:Zfyve26	UTSW	12	79,244,465 (GRCm38)	missense	probably damaging	1.00
R9536:Zfyve26	UTSW	12	79,251,272 (GRCm38)	missense	probably benign	0.32
R9653:Zfyve26	UTSW	12	79,287,644 (GRCm38)	missense	probably benign
R9676:Zfyve26	UTSW	12	79,284,185 (GRCm38)	missense	probably benign	0.01
R9797:Zfyve26	UTSW	12	79,246,232 (GRCm38)	missense	probably damaging	0.98
RF010:Zfyve26	UTSW	12	79,255,338 (GRCm38)	missense	probably damaging	1.00
X0020:Zfyve26	UTSW	12	79,239,005 (GRCm38)	missense	probably damaging	1.00
Z1176:Zfyve26	UTSW	12	79,268,533 (GRCm38)	missense	probably benign	0.07
Z1177:Zfyve26	UTSW	12	79,287,375 (GRCm38)	missense	probably null	1.00

Predicted Primers

PCR Primer
(F):5'- TATACAGCTGACCTCCTGGCTC -3'
(R):5'- AGTTCCAGTCACGTGGATCG -3'

Sequencing Primer
(F):5'- TGGCTCTGTCTCCCTGAG -3'
(R):5'- ACAAAGCCCTCTTAAGTTGGC -3'

Posted On

2018-10-18