Mutagenetix > Incidental Mutation

Incidental Mutation 'R7901:Zfyve28'

609979

Institutional Source

Beutler Lab

Gene Symbol

Zfyve28

Ensembl Gene

ENSMUSG00000037224

Gene Name

zinc finger, FYVE domain containing 28

Synonyms

9630058O20Rik

MMRRC Submission

045953-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7901 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34352237-34445793 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 34382326 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 258 (R258Q)

Ref Sequence

ENSEMBL: ENSMUSP00000092464 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094868]

AlphaFold

Q6ZPK7

Predicted Effect

probably damaging
Transcript: ENSMUST00000094868
AA Change: R258Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000092464
Gene: ENSMUSG00000037224
AA Change: R258Q

Domain	Start	End	E-Value	Type
low complexity region	718	730	N/A	INTRINSIC
FYVE	827	896	8.73e-25	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (56/57)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim1	A	T	19: 57,119,434 (GRCm39)		probably null	Het
Adpgk	T	C	9: 59,222,300 (GRCm39)	V409A	probably benign	Het
Agfg2	A	T	5: 137,665,966 (GRCm39)	F98I	probably damaging	Het
Arhgap17	A	T	7: 122,885,791 (GRCm39)		probably benign	Het
Asb8	T	C	15: 98,040,614 (GRCm39)	Y16C	probably damaging	Het
Atp6v0a2	C	T	5: 124,779,485 (GRCm39)	T200I	probably damaging	Het
C1ra	G	A	6: 124,494,684 (GRCm39)	E316K	probably benign	Het
Ccnt1	A	T	15: 98,441,797 (GRCm39)	D490E	probably benign	Het
Cenpf	G	T	1: 189,389,445 (GRCm39)	D1462E	probably damaging	Het
Clcn6	C	T	4: 148,095,202 (GRCm39)	R736H	probably damaging	Het
Col4a2	A	T	8: 11,479,358 (GRCm39)	D747V	probably benign	Het
Cplane1	A	G	15: 8,299,190 (GRCm39)	E3126G	unknown	Het
Crybg3	T	C	16: 59,377,907 (GRCm39)	T1116A	probably damaging	Het
Csf1r	T	A	18: 61,243,368 (GRCm39)	L128Q	probably damaging	Het
Ddx17	A	T	15: 79,422,789 (GRCm39)	D316E	probably damaging	Het
Ect2l	T	A	10: 18,017,712 (GRCm39)	D681V	possibly damaging	Het
Ell2	A	T	13: 75,912,105 (GRCm39)	K464*	probably null	Het
Eme1	G	T	11: 94,541,645 (GRCm39)	P59Q	probably damaging	Het
Etl4	T	C	2: 20,294,821 (GRCm39)	S2P	possibly damaging	Het
Fndc9	T	C	11: 46,128,576 (GRCm39)	Y32H	probably damaging	Het
Frem1	G	T	4: 82,877,614 (GRCm39)	T1321K	probably benign	Het
Gabrg2	A	G	11: 41,867,418 (GRCm39)	V67A	probably benign	Het
Gm4553	ACAGCAGCTGGACTGACAGCAGCAGGGCTTGCAACAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAG	ACAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAG	7: 141,718,602 (GRCm39)		probably benign	Het
Gm5145	A	C	17: 20,790,900 (GRCm39)	I93L	possibly damaging	Het
Gpld1	T	A	13: 25,146,758 (GRCm39)	V240E	probably damaging	Het
Gsc	T	A	12: 104,439,131 (GRCm39)	S82C	possibly damaging	Het
H2-T10	C	T	17: 36,431,143 (GRCm39)	E173K	probably benign	Het
Ifi213	A	T	1: 173,394,784 (GRCm39)	S584T	probably benign	Het
Klk1b1	T	C	7: 43,620,669 (GRCm39)	I253T	probably damaging	Het
Klra4	A	G	6: 130,040,113 (GRCm39)	L53P	probably damaging	Het
Lct	A	G	1: 128,216,722 (GRCm39)	Y1697H	probably benign	Het
Mrs2	T	A	13: 25,202,549 (GRCm39)	D64V	possibly damaging	Het
Muc13	A	G	16: 33,636,211 (GRCm39)	Q565R	probably damaging	Het
Nlrp6	T	C	7: 140,507,353 (GRCm39)	V873A	possibly damaging	Het
Nup155	C	T	15: 8,145,926 (GRCm39)	P159L	possibly damaging	Het
Or10v1	A	T	19: 11,873,898 (GRCm39)	H171L	probably benign	Het
Or4m1	A	T	14: 50,557,573 (GRCm39)	S240T	probably damaging	Het
Or51a6	T	C	7: 102,604,887 (GRCm39)		probably null	Het
Phip	T	G	9: 82,772,203 (GRCm39)	M1115L	probably benign	Het
Ppip5k1	T	C	2: 121,142,390 (GRCm39)	Q1353R	probably damaging	Het
Ptprb	C	G	10: 116,205,333 (GRCm39)	P1896A	probably benign	Het
Rgl2	T	C	17: 34,154,799 (GRCm39)	L601P	possibly damaging	Het
Sash1	C	T	10: 8,656,328 (GRCm39)	W221*	probably null	Het
Skint1	A	C	4: 111,876,399 (GRCm39)	T107P	probably damaging	Het
Slc45a4	G	A	15: 73,477,621 (GRCm39)		probably benign	Het
Snx13	T	A	12: 35,150,624 (GRCm39)	D309E	probably benign	Het
Spcs1	A	G	14: 30,722,628 (GRCm39)	Y64H	probably benign	Het
Tep1	A	T	14: 51,064,308 (GRCm39)	Y2434N	possibly damaging	Het
Tnpo3	T	C	6: 29,568,990 (GRCm39)	E454G	possibly damaging	Het
Tsg101	G	T	7: 46,563,183 (GRCm39)	Q24K	probably benign	Het
Ttc6	C	T	12: 57,735,353 (GRCm39)	R1132W	probably damaging	Het
Unkl	T	C	17: 25,437,627 (GRCm39)	S200P	probably damaging	Het
Uts2r	G	A	11: 121,052,234 (GRCm39)	S366N	probably benign	Het
Wbp4	A	T	14: 79,709,845 (GRCm39)	V130E	probably damaging	Het
Zfp592	T	G	7: 80,674,469 (GRCm39)	S478A	probably benign	Het
Zfp664	A	T	5: 124,962,839 (GRCm39)	K78*	probably null	Het
Zfp738	A	T	13: 67,821,110 (GRCm39)	L79*	probably null	Het

Other mutations in Zfyve28

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00497:Zfyve28	APN	5	34,400,539 (GRCm39)	missense	probably damaging	0.98
IGL02201:Zfyve28	APN	5	34,400,549 (GRCm39)	missense	probably damaging	1.00
PIT4418001:Zfyve28	UTSW	5	34,390,721 (GRCm39)	missense	probably damaging	1.00
R0499:Zfyve28	UTSW	5	34,389,550 (GRCm39)	missense	possibly damaging	0.65
R1226:Zfyve28	UTSW	5	34,374,408 (GRCm39)	missense	probably benign	0.00
R1290:Zfyve28	UTSW	5	34,356,145 (GRCm39)	missense	probably benign	0.00
R1351:Zfyve28	UTSW	5	34,389,549 (GRCm39)	missense	probably damaging	1.00
R1418:Zfyve28	UTSW	5	34,374,590 (GRCm39)	missense	probably damaging	0.99
R2062:Zfyve28	UTSW	5	34,391,681 (GRCm39)	missense	probably null	0.73
R2212:Zfyve28	UTSW	5	34,357,028 (GRCm39)	missense	probably benign	0.02
R2443:Zfyve28	UTSW	5	34,374,238 (GRCm39)	missense	possibly damaging	0.64
R2851:Zfyve28	UTSW	5	34,354,006 (GRCm39)	missense	probably damaging	1.00
R2852:Zfyve28	UTSW	5	34,354,006 (GRCm39)	missense	probably damaging	1.00
R3412:Zfyve28	UTSW	5	34,357,028 (GRCm39)	missense	probably benign	0.02
R3413:Zfyve28	UTSW	5	34,357,028 (GRCm39)	missense	probably benign	0.02
R3694:Zfyve28	UTSW	5	34,374,812 (GRCm39)	missense	probably damaging	1.00
R4645:Zfyve28	UTSW	5	34,379,787 (GRCm39)	intron	probably benign
R4700:Zfyve28	UTSW	5	34,375,189 (GRCm39)	missense	probably damaging	1.00
R4938:Zfyve28	UTSW	5	34,390,698 (GRCm39)	missense	probably damaging	0.99
R5384:Zfyve28	UTSW	5	34,374,311 (GRCm39)	missense	probably damaging	1.00
R5908:Zfyve28	UTSW	5	34,374,214 (GRCm39)	missense	possibly damaging	0.62
R5936:Zfyve28	UTSW	5	34,382,332 (GRCm39)	missense	probably damaging	1.00
R6260:Zfyve28	UTSW	5	34,356,216 (GRCm39)	missense	probably damaging	0.99
R6862:Zfyve28	UTSW	5	34,445,449 (GRCm39)	missense	probably benign	0.10
R7172:Zfyve28	UTSW	5	34,391,753 (GRCm39)	missense	probably benign	0.42
R7243:Zfyve28	UTSW	5	34,356,219 (GRCm39)	missense	probably damaging	1.00
R7366:Zfyve28	UTSW	5	34,389,571 (GRCm39)	missense	probably damaging	1.00
R7598:Zfyve28	UTSW	5	34,393,461 (GRCm39)	missense	probably damaging	1.00
R7654:Zfyve28	UTSW	5	34,400,539 (GRCm39)	missense	probably damaging	1.00
R7752:Zfyve28	UTSW	5	34,382,326 (GRCm39)	missense	probably damaging	1.00
R7861:Zfyve28	UTSW	5	34,374,487 (GRCm39)	missense	probably damaging	1.00
R7878:Zfyve28	UTSW	5	34,356,999 (GRCm39)	missense	probably damaging	1.00
R8116:Zfyve28	UTSW	5	34,374,944 (GRCm39)	missense	probably damaging	0.96
R8483:Zfyve28	UTSW	5	34,393,480 (GRCm39)	missense	possibly damaging	0.67
R8799:Zfyve28	UTSW	5	34,390,670 (GRCm39)	missense	probably damaging	1.00
R8883:Zfyve28	UTSW	5	34,375,211 (GRCm39)	critical splice acceptor site	probably null
R8912:Zfyve28	UTSW	5	34,374,655 (GRCm39)	missense	probably benign	0.01
R9179:Zfyve28	UTSW	5	34,382,376 (GRCm39)	missense	probably benign	0.01
R9228:Zfyve28	UTSW	5	34,374,788 (GRCm39)	missense	probably benign
R9381:Zfyve28	UTSW	5	34,373,932 (GRCm39)	missense	probably benign	0.09
R9432:Zfyve28	UTSW	5	34,400,633 (GRCm39)	missense	possibly damaging	0.92
R9509:Zfyve28	UTSW	5	34,354,892 (GRCm39)	missense	probably benign	0.36

Predicted Primers

PCR Primer
(F):5'- GACAAAGGTAAGCCTGAGCC -3'
(R):5'- TGAAGCCATGACTTTGCTAAGTG -3'

Sequencing Primer
(F):5'- AGGTAAGCCTGAGCCACTGTG -3'
(R):5'- TGCTAAGTGTGGGTGCCCC -3'

Posted On

2019-12-20