Mutagenetix > Incidental Mutations

Incidental Mutation 'R7243:Zfyve28'

563344

Institutional Source

Beutler Lab

Gene Symbol

Zfyve28

Ensembl Gene

ENSMUSG00000037224

Gene Name

zinc finger, FYVE domain containing 28

Synonyms

9630058O20Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7243 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34194893-34288449 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 34198875 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 761 (T761A)

Ref Sequence

ENSEMBL: ENSMUSP00000092464 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000094868
AA Change: T761A

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

SMART Domains

Protein: ENSMUSP00000092464
Gene: ENSMUSG00000037224
AA Change: T761A

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

99% (73/74)

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700057G04Rik	A	G	9: 92,343,673	Y16C	probably damaging	Het
Acap1	G	A	11: 69,890,471	H103Y	probably benign	Het
Adamdec1	A	G	14: 68,571,754	M253T	probably benign	Het
Alox15	C	A	11: 70,350,714	G114C	probably null	Het
Aox3	G	T	1: 58,138,307	G227V	unknown	Het
Atp8a2	A	T	14: 59,647,842	N1144K	probably benign	Het
Cacna1c	C	T	6: 118,637,729		probably null	Het
Cog6	A	T	3: 53,002,315	W314R	probably damaging	Het
Col5a2	A	G	1: 45,376,160	I1473T	probably benign	Het
Csmd1	T	A	8: 15,915,357	D3218V	probably damaging	Het
Cyp3a11	A	G	5: 145,858,803	M446T	probably damaging	Het
Dhps	A	G	8: 85,074,938	Y340C	probably benign	Het
Dnah7b	A	G	1: 46,083,754	N108S	probably benign	Het
Dnajb1	C	T	8: 83,610,764	P323L	probably damaging	Het
Dspp	TGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCAACAGCAGTGACAGCAG	TGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCAACAGCAGTGACAGCAG	5: 104,178,361		probably benign	Het
Dync2h1	G	T	9: 7,102,405	T2665K	possibly damaging	Het
Etv1	C	T	12: 38,857,046	S349L	probably benign	Het
Fam171a1	A	T	2: 3,118,616	T21S	probably benign	Het
Fbxo18	T	A	2: 11,751,525	T749S	probably benign	Het
Fcho2	T	C	13: 98,755,216	D346G	possibly damaging	Het
Fcrl5	A	G	3: 87,442,245	H109R	probably benign	Het
Fstl1	A	G	16: 37,826,726	S153G	probably benign	Het
Fyb	T	C	15: 6,643,699	F605L	probably benign	Het
Gcat	T	A	15: 79,036,863	M363K	possibly damaging	Het
Gm10604	T	C	4: 11,980,113	T64A	unknown	Het
Grin2d	A	G	7: 45,866,128	L147P	probably damaging	Het
Ift88	A	T	14: 57,430,536		probably null	Het
Ighg1	A	T	12: 113,330,446	C26S		Het
Ing2	A	G	8: 47,674,539	S48P	probably damaging	Het
Kat6a	C	T	8: 22,938,775	T1382I	probably benign	Het
Kdm1a	A	G	4: 136,551,954	V765A	probably damaging	Het
Klk1b26	T	C	7: 44,016,267	S168P	not run	Het
Klk1b26	A	G	7: 44,016,913	N260S	probably damaging	Het
Lama3	G	A	18: 12,419,845	G438D	probably damaging	Het
Larp6	T	A	9: 60,713,286	D27E	probably benign	Het
Lrba	T	A	3: 86,751,516		probably null	Het
Lrig2	A	T	3: 104,497,567		probably null	Het
Megf9	T	C	4: 70,435,471	E366G	probably benign	Het
Mob1b	T	A	5: 88,743,445	D52E	probably damaging	Het
Ndufb3	A	T	1: 58,591,123	H11L	unknown	Het
Odc1	T	G	12: 17,550,057	Y407*	probably null	Het
Ogfr	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	2: 180,595,266		probably benign	Het
Olfr328	T	C	11: 58,551,401	I279M	probably damaging	Het
Olfr401	T	A	11: 74,121,733	V148E	probably damaging	Het
Olfr561	A	T	7: 102,781,658	T61S	probably benign	Het
Olfr642	A	G	7: 104,049,755	Y200H	probably damaging	Het
Opa1	A	G	16: 29,586,996	I126M	probably benign	Het
Pcca	A	G	14: 122,876,774	H633R	probably benign	Het
Pcdhb22	A	G	18: 37,520,632	R461G	probably benign	Het
Pcf11	A	T	7: 92,660,060	D647E	probably damaging	Het
Plxnd1	T	A	6: 115,972,507	I773F	probably benign	Het
Prl8a1	A	T	13: 27,582,103	L3Q	probably damaging	Het
Psg17	C	A	7: 18,818,715	G212C	probably damaging	Het
Ptbp2	G	T	3: 119,753,112	N40K	possibly damaging	Het
Ptprj	T	C	2: 90,446,421	H1102R	probably damaging	Het
Rbfox3	T	C	11: 118,513,274	Y33C	probably damaging	Het
Ros1	T	A	10: 52,123,381	N1158Y	probably damaging	Het
Rpgrip1l	T	C	8: 91,270,123	I710V	probably benign	Het
Scn9a	A	G	2: 66,540,530	F569L	probably damaging	Het
Slc12a4	A	T	8: 105,953,920	M190K	probably damaging	Het
Slc22a20	G	A	19: 5,971,571	R468C	probably damaging	Het
Slc45a2	T	A	15: 11,023,350	Y347N	possibly damaging	Het
Slc4a10	A	G	2: 62,303,862	Y974C	probably damaging	Het
Snap47	A	G	11: 59,428,722	S197P	probably benign	Het
Snph	T	C	2: 151,594,253	S252G	probably damaging	Het
Spns2	A	T	11: 72,456,860	W335R	probably damaging	Het
Thnsl1	A	G	2: 21,212,847	I471V	probably damaging	Het
Tmprss11f	C	A	5: 86,530,116	G265C	probably damaging	Het
Tnn	C	T	1: 160,107,117	R1242H	probably benign	Het
Tsc2	T	C	17: 24,599,630	R1412G	probably benign	Het
Tsc22d2	G	T	3: 58,416,463	V259F	unknown	Het
Ttll13	A	C	7: 80,254,163	K280Q	probably damaging	Het
Wls	A	T	3: 159,909,765	I306F	possibly damaging	Het
Zfp566	A	G	7: 30,078,276	V160A	probably benign	Het
Zswim8	G	A	14: 20,714,368	R602Q	probably damaging	Het

Other mutations in Zfyve28

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00497:Zfyve28	APN	5	34243195	missense	probably damaging	0.98
IGL02201:Zfyve28	APN	5	34243205	missense	probably damaging	1.00
PIT4418001:Zfyve28	UTSW	5	34233377	missense	probably damaging	1.00
R0499:Zfyve28	UTSW	5	34232206	missense	possibly damaging	0.65
R1226:Zfyve28	UTSW	5	34217064	missense	probably benign	0.00
R1290:Zfyve28	UTSW	5	34198801	missense	probably benign	0.00
R1351:Zfyve28	UTSW	5	34232205	missense	probably damaging	1.00
R1418:Zfyve28	UTSW	5	34217246	missense	probably damaging	0.99
R2062:Zfyve28	UTSW	5	34234337	missense	probably null	0.73
R2212:Zfyve28	UTSW	5	34199684	missense	probably benign	0.02
R2443:Zfyve28	UTSW	5	34216894	missense	possibly damaging	0.64
R2851:Zfyve28	UTSW	5	34196662	missense	probably damaging	1.00
R2852:Zfyve28	UTSW	5	34196662	missense	probably damaging	1.00
R3412:Zfyve28	UTSW	5	34199684	missense	probably benign	0.02
R3413:Zfyve28	UTSW	5	34199684	missense	probably benign	0.02
R3694:Zfyve28	UTSW	5	34217468	missense	probably damaging	1.00
R4645:Zfyve28	UTSW	5	34222443	intron	probably benign
R4700:Zfyve28	UTSW	5	34217845	missense	probably damaging	1.00
R4938:Zfyve28	UTSW	5	34233354	missense	probably damaging	0.99
R5384:Zfyve28	UTSW	5	34216967	missense	probably damaging	1.00
R5908:Zfyve28	UTSW	5	34216870	missense	possibly damaging	0.62
R5936:Zfyve28	UTSW	5	34224988	missense	probably damaging	1.00
R6260:Zfyve28	UTSW	5	34198872	missense	probably damaging	0.99
R6862:Zfyve28	UTSW	5	34288105	missense	probably benign	0.10
R7172:Zfyve28	UTSW	5	34234409	missense	probably benign	0.42
R7366:Zfyve28	UTSW	5	34232227	missense	probably damaging	1.00
R7598:Zfyve28	UTSW	5	34236117	missense	probably damaging	1.00
R7654:Zfyve28	UTSW	5	34243195	missense	probably damaging	1.00
R7752:Zfyve28	UTSW	5	34224982	missense	probably damaging	1.00
R7861:Zfyve28	UTSW	5	34217143	missense	probably damaging	1.00
R7878:Zfyve28	UTSW	5	34199655	missense	probably damaging	1.00
R7901:Zfyve28	UTSW	5	34224982	missense	probably damaging	1.00
R8116:Zfyve28	UTSW	5	34217600	missense	probably damaging	0.96
R8483:Zfyve28	UTSW	5	34236136	missense	possibly damaging	0.67

Predicted Primers

PCR Primer
(F):5'- AAACCAAACTGGGGTGTGTG -3'
(R):5'- AGGTAAGAAGCTTTCATCCTTTCC -3'

Sequencing Primer
(F):5'- CAAACTGGGGTGTGTGGTTGC -3'
(R):5'- AAGAAGCTTTCATCCTTTCCTATCTC -3'

Posted On

2019-06-26