Mutagenetix > Incidental Mutations

Incidental Mutation 'R7598:Zfyve28'

587831

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 #

R7598 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34194893-34288449 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 34236117 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 68 (N68K)

Ref Sequence

ENSEMBL: ENSMUSP00000092464 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094868] [ENSMUST00000114368]

Predicted Effect

probably damaging
Transcript: ENSMUST00000094868
AA Change: N68K

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000092464
Gene: ENSMUSG00000037224
AA Change: N68K

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000114368
AA Change: N74K

PolyPhen 2 Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)

Coding Region Coverage

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

Validation Efficiency

100% (53/53)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss1	T	C	2: 150,638,450	S234G	probably benign	Het
Agtr1b	A	T	3: 20,315,913	N176K	possibly damaging	Het
AI661453	T	C	17: 47,466,120	V257A	unknown	Het
Alpk2	T	A	18: 65,304,566	K1252M	probably damaging	Het
Angpt4	A	G	2: 151,925,525	T159A	possibly damaging	Het
Ap1g1	A	G	8: 109,849,676	N447S	probably benign	Het
Apoc4	A	G	7: 19,681,340	V14A	probably benign	Het
Arfgef2	A	C	2: 166,856,524	Q638P	probably benign	Het
Arhgap20	C	A	9: 51,849,790	F980L	possibly damaging	Het
Arhgap27	G	A	11: 103,334,053	R459*	probably null	Het
Arhgef15	A	T	11: 68,946,410	L785Q	probably damaging	Het
B3gnt7	T	C	1: 86,305,778	F249L	probably benign	Het
Carmil3	A	G	14: 55,494,821	E233G	possibly damaging	Het
Ccdc122	C	A	14: 77,111,566	Q279K	probably benign	Het
Cilp2	A	G	8: 69,886,032	C134R	probably benign	Het
Clec4b1	G	A	6: 123,071,468	W187*	probably null	Het
Ddx11	G	A	17: 66,130,546		probably null	Het
Dhrs7c	A	T	11: 67,811,453		probably null	Het
Eif4g3	T	A	4: 138,194,124	H1387Q	probably benign	Het
Gsdmc4	T	C	15: 63,900,386	N148S	probably damaging	Het
Hs6st3	T	A	14: 119,869,338	V386E	probably damaging	Het
Itih3	C	T	14: 30,917,377	R413Q	possibly damaging	Het
Kcnj4	T	C	15: 79,485,764	N5S	probably benign	Het
Klhl18	A	T	9: 110,446,810	L155*	probably null	Het
Lima1	G	A	15: 99,819,696	P143L	probably benign	Het
Lzts2	G	T	19: 45,023,833	G234*	probably null	Het
Map4k5	A	T	12: 69,824,638	F503L	possibly damaging	Het
Men1	A	T	19: 6,339,705	I463L	probably benign	Het
Muc5b	A	G	7: 141,859,262	T1982A	unknown	Het
Myo18a	A	T	11: 77,847,346	T1705S	probably damaging	Het
Nipbl	T	C	15: 8,343,493	S1090G	probably benign	Het
Olfr1066	C	A	2: 86,455,890	C127F	probably damaging	Het
Olfr1535	T	C	13: 21,555,188	Y278C	probably damaging	Het
Pcdhb7	T	C	18: 37,342,780	F323S	probably damaging	Het
Pde11a	T	A	2: 76,136,423	T561S	probably damaging	Het
Phip	A	C	9: 82,905,658	S817R	possibly damaging	Het
Phxr2	T	A	10: 99,126,079	M40L	unknown	Het
Pip4k2a	T	A	2: 18,872,287	L212F	possibly damaging	Het
Proc	T	A	18: 32,135,876	I19L	probably benign	Het
Rbm4	T	C	19: 4,792,511	E100G	possibly damaging	Het
Rhobtb3	T	C	13: 75,910,902	Y259C	probably benign	Het
Rtkn	A	G	6: 83,147,903	D168G	probably null	Het
Sdk1	T	G	5: 141,609,998	Y136*	probably null	Het
Slk	G	A	19: 47,636,462	E1041K	probably damaging	Het
Smok2b	A	T	17: 13,236,086	R378*	probably null	Het
Sp110	G	A	1: 85,579,092	R417C		Het
Spag16	T	C	1: 69,870,308	F188S	probably damaging	Het
Tlnrd1	A	G	7: 83,882,630	C198R	probably damaging	Het
Tor1a	A	C	2: 30,967,784	I24S	probably benign	Het
Unc13b	C	A	4: 43,263,569	T1598K	probably benign	Het
Uncx	G	A	5: 139,544,054	V21M	probably benign	Het
Usp5	A	T	6: 124,826,379	F53I	possibly damaging	Het
Wbp2nl	A	G	15: 82,308,561	M149V	probably benign	Het
Zfp654	T	A	16: 64,785,934	E94V	possibly damaging	Het
Zfp689	A	G	7: 127,448,668	L64P	probably benign	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
R7243:Zfyve28	UTSW	5	34198875	missense	probably damaging	1.00
R7366:Zfyve28	UTSW	5	34232227	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'- AAGGAAGCTCAGACCATGC -3'
(R):5'- TCCTCAGCCATCAAATGAGC -3'

Sequencing Primer
(F):5'- ACCCCTAGAGGAGACTTCATGTG -3'
(R):5'- TCAAATGAGCTCAGTCCCAGG -3'

Posted On

2019-10-24