Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02668:Zfp488'

302810

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zfp488

Ensembl Gene

ENSMUSG00000044519

Gene Name

zinc finger protein 488

Synonyms

LOC382867

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02668

Quality Score

Status

Chromosome

Chromosomal Location

33689027-33700721 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 33692777 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 129 (Q129K)

Ref Sequence

ENSEMBL: ENSMUSP00000132436 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000166737]

AlphaFold

Q5HZG9

Predicted Effect

probably benign
Transcript: ENSMUST00000166737
AA Change: Q129K

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000132436
Gene: ENSMUSG00000044519
AA Change: Q129K

Domain	Start	End	E-Value	Type
low complexity region	161	175	N/A	INTRINSIC
low complexity region	244	270	N/A	INTRINSIC
ZnF_C2H2	272	294	2.89e1	SMART
ZnF_C2H2	314	336	5.06e-2	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930596D02Rik	A	G	14: 35,532,074 (GRCm39)	M167T	probably benign	Het
Abcc4	G	T	14: 118,848,887 (GRCm39)	S488R	probably damaging	Het
Adprm	G	T	11: 66,931,073 (GRCm39)	D230E	possibly damaging	Het
Atp2a3	C	A	11: 72,866,165 (GRCm39)	H262N	probably benign	Het
Bltp3a	A	C	17: 28,105,549 (GRCm39)	I692L	possibly damaging	Het
Ccdc66	T	C	14: 27,219,298 (GRCm39)	K309E	possibly damaging	Het
Cyb561d2	C	T	9: 107,417,371 (GRCm39)	A127T	probably benign	Het
Dctn1	T	A	6: 83,168,030 (GRCm39)	M357K	possibly damaging	Het
Diras2	T	C	13: 52,661,806 (GRCm39)	N167S	probably benign	Het
Dmgdh	T	G	13: 93,840,418 (GRCm39)	V283G	probably damaging	Het
Dmxl2	A	T	9: 54,324,229 (GRCm39)	W1052R	probably damaging	Het
Dnah6	A	T	6: 73,098,806 (GRCm39)	V2083D	possibly damaging	Het
Dnai7	G	T	6: 145,150,983 (GRCm39)	R30S	unknown	Het
Exoc4	T	G	6: 33,898,467 (GRCm39)	F895L	probably benign	Het
Fsip1	G	T	2: 118,082,206 (GRCm39)	A76E	probably benign	Het
Fsip2	A	G	2: 82,828,662 (GRCm39)	I6820V	probably benign	Het
Hdac10	G	A	15: 89,009,847 (GRCm39)	P395L	probably benign	Het
Ing3	A	G	6: 21,950,058 (GRCm39)	D17G	probably damaging	Het
Map3k4	A	T	17: 12,454,840 (GRCm39)	F1383L	possibly damaging	Het
Myct1	C	A	10: 5,554,513 (GRCm39)	P127T	probably damaging	Het
Or52s1	A	T	7: 102,861,942 (GRCm39)	I281F	possibly damaging	Het
Osbpl7	G	T	11: 96,958,031 (GRCm39)	A625S	possibly damaging	Het
Padi2	C	T	4: 140,677,191 (GRCm39)	R660C	probably benign	Het
Paip1	A	T	13: 119,574,607 (GRCm39)	I185F	probably damaging	Het
Pals2	C	T	6: 50,171,509 (GRCm39)	T386I	probably damaging	Het
Phykpl	G	A	11: 51,484,514 (GRCm39)		probably null	Het
Plekhg6	G	A	6: 125,349,766 (GRCm39)		probably benign	Het
Plxna1	A	T	6: 89,334,251 (GRCm39)	L126*	probably null	Het
Rchy1	A	T	5: 92,110,577 (GRCm39)	M1K	probably null	Het
Rfx3	T	C	19: 27,793,014 (GRCm39)		probably benign	Het
Sdr9c7	T	C	10: 127,738,267 (GRCm39)	F182L	probably damaging	Het
Sgpl1	A	C	10: 60,941,229 (GRCm39)	V294G	probably damaging	Het
Sh2b1	A	G	7: 126,071,646 (GRCm39)	S180P	possibly damaging	Het
Sorbs1	T	C	19: 40,303,125 (GRCm39)	D488G	probably damaging	Het
Stab2	A	G	10: 86,682,027 (GRCm39)		probably benign	Het
Sycp1	A	C	3: 102,727,847 (GRCm39)		probably benign	Het
Tmem245	T	C	4: 56,925,081 (GRCm39)	K347E	possibly damaging	Het
Tnk1	A	G	11: 69,747,749 (GRCm39)	M51T	probably damaging	Het
Trpm2	C	T	10: 77,771,776 (GRCm39)	R621H	probably damaging	Het
Ubd	G	T	17: 37,506,420 (GRCm39)	R102L	probably benign	Het
Vmn2r103	G	T	17: 20,014,389 (GRCm39)	A394S	probably benign	Het
Zfp324	T	A	7: 12,704,773 (GRCm39)	C321S	probably damaging	Het
Zmpste24	T	A	4: 120,918,297 (GRCm39)	N442Y	probably damaging	Het

Other mutations in Zfp488

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00160:Zfp488	APN	14	33,693,026 (GRCm39)	missense	probably benign	0.00
IGL02156:Zfp488	APN	14	33,692,357 (GRCm39)	missense	possibly damaging	0.83
R0504:Zfp488	UTSW	14	33,692,497 (GRCm39)	missense	probably damaging	0.97
R4021:Zfp488	UTSW	14	33,693,110 (GRCm39)	missense	probably benign	0.01
R4022:Zfp488	UTSW	14	33,693,110 (GRCm39)	missense	probably benign	0.01
R4291:Zfp488	UTSW	14	33,692,851 (GRCm39)	missense	possibly damaging	0.83
R6180:Zfp488	UTSW	14	33,692,751 (GRCm39)	missense	possibly damaging	0.66
R6927:Zfp488	UTSW	14	33,692,755 (GRCm39)	missense	probably benign
R7687:Zfp488	UTSW	14	33,692,357 (GRCm39)	missense	possibly damaging	0.83
R8416:Zfp488	UTSW	14	33,693,052 (GRCm39)	missense	probably benign	0.04
R8857:Zfp488	UTSW	14	33,692,760 (GRCm39)	missense	probably benign	0.38
R9151:Zfp488	UTSW	14	33,692,695 (GRCm39)	missense	possibly damaging	0.66

Posted On

2015-04-16