Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00332:Zfp518b'

332287

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zfp518b

Ensembl Gene

ENSMUSG00000046572

Gene Name

zinc finger protein 518B

Synonyms

6820424L24Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.095) question?

Stock #

IGL00332

Quality Score

Status

Chromosome

Chromosomal Location

38825828-38842120 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 38831109 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 299 (T299S)

Ref Sequence

ENSEMBL: ENSMUSP00000137381 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057258] [ENSMUST00000178760] [ENSMUST00000179555] [ENSMUST00000180214]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000057258
AA Change: T299S

PolyPhen 2 Score 0.579 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000061753
Gene: ENSMUSG00000046572
AA Change: T299S

Domain	Start	End	E-Value	Type
ZnF_C2H2	138	160	2.32e-1	SMART
ZnF_C2H2	165	187	1.67e-2	SMART
ZnF_C2H2	193	216	1.16e-1	SMART
low complexity region	523	536	N/A	INTRINSIC
low complexity region	636	645	N/A	INTRINSIC
low complexity region	714	730	N/A	INTRINSIC
low complexity region	1011	1023	N/A	INTRINSIC
ZnF_C2H2	1044	1066	1.2e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000178760

Predicted Effect

possibly damaging
Transcript: ENSMUST00000179555
AA Change: T299S

PolyPhen 2 Score 0.579 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000137381
Gene: ENSMUSG00000046572
AA Change: T299S

Domain	Start	End	E-Value	Type
ZnF_C2H2	138	160	2.32e-1	SMART
ZnF_C2H2	165	187	1.67e-2	SMART
ZnF_C2H2	193	216	1.16e-1	SMART
low complexity region	523	536	N/A	INTRINSIC
low complexity region	636	645	N/A	INTRINSIC
low complexity region	714	730	N/A	INTRINSIC
low complexity region	1011	1023	N/A	INTRINSIC
ZnF_C2H2	1044	1066	1.2e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000180214

SMART Domains

Protein: ENSMUSP00000136948
Gene: ENSMUSG00000046572

Domain	Start	End	E-Value	Type
ZnF_C2H2	138	160	2.32e-1	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp6	T	C	3: 97,083,737 (GRCm39)	Y404H	possibly damaging	Het
Adgrv1	T	A	13: 81,620,996 (GRCm39)		probably benign	Het
Akap13	A	G	7: 75,378,667 (GRCm39)	K2107E	probably damaging	Het
Ankrd42	A	G	7: 92,233,662 (GRCm39)		probably benign	Het
Apba3	C	T	10: 81,108,901 (GRCm39)	P555S	probably damaging	Het
Aplnr	A	G	2: 84,967,985 (GRCm39)	S337G	probably benign	Het
Arhgef40	A	G	14: 52,226,417 (GRCm39)	N154D	probably damaging	Het
Asb14	A	G	14: 26,633,998 (GRCm39)	K401R	probably benign	Het
Aspn	C	A	13: 49,719,968 (GRCm39)	T328K	probably benign	Het
Barhl2	C	T	5: 106,603,365 (GRCm39)	A265T	possibly damaging	Het
Brca2	T	A	5: 150,463,363 (GRCm39)	H1042Q	probably benign	Het
C3	A	G	17: 57,533,004 (GRCm39)	L167P	probably benign	Het
Ccdc33	A	G	9: 57,977,257 (GRCm39)		probably benign	Het
Cdk10	T	A	8: 123,957,063 (GRCm39)	M222K	possibly damaging	Het
Cfap45	C	T	1: 172,362,912 (GRCm39)		probably benign	Het
Chil3	T	A	3: 106,056,017 (GRCm39)	N352I	probably damaging	Het
Chn2	G	T	6: 54,272,907 (GRCm39)		probably null	Het
Cimip2b	G	A	4: 43,428,158 (GRCm39)	R100W	possibly damaging	Het
Cpt1b	T	C	15: 89,305,066 (GRCm39)	E394G	probably benign	Het
Fcgr2b	T	A	1: 170,788,799 (GRCm39)	N273I	possibly damaging	Het
Fpr-rs7	G	A	17: 20,333,480 (GRCm39)	Q337*	probably null	Het
Fras1	T	A	5: 96,887,217 (GRCm39)	N2666K	possibly damaging	Het
Gfra3	C	T	18: 34,824,601 (GRCm39)		probably null	Het
Gm4553	T	C	7: 141,718,964 (GRCm39)	S155G	unknown	Het
Gpr75	C	T	11: 30,841,590 (GRCm39)	T165I	probably damaging	Het
Gzmd	A	T	14: 56,367,737 (GRCm39)	C179S	probably damaging	Het
Hand1	T	G	11: 57,722,575 (GRCm39)	H13P	probably damaging	Het
Irak3	C	T	10: 120,013,972 (GRCm39)		probably null	Het
Isl2	T	A	9: 55,452,253 (GRCm39)	L275Q	possibly damaging	Het
Itgb2	T	C	10: 77,393,240 (GRCm39)	V367A	probably damaging	Het
Katna1	T	C	10: 7,638,758 (GRCm39)		probably benign	Het
Myh6	A	G	14: 55,184,450 (GRCm39)	M1627T	probably benign	Het
Naprt	A	G	15: 75,765,164 (GRCm39)	Y187H	probably damaging	Het
Nedd4	T	A	9: 72,642,371 (GRCm39)	V550E	probably damaging	Het
Nt5c2	A	G	19: 46,884,954 (GRCm39)	V252A	possibly damaging	Het
Or8k39	T	C	2: 86,563,579 (GRCm39)	I126V	possibly damaging	Het
Or9i16	C	T	19: 13,864,945 (GRCm39)	V210I	probably benign	Het
P2ry2	A	G	7: 100,647,393 (GRCm39)	V304A	probably damaging	Het
Pde4dip	T	C	3: 97,674,593 (GRCm39)	N108D	probably benign	Het
Pdgfrl	A	G	8: 41,438,660 (GRCm39)	T199A	probably damaging	Het
Plaa	A	G	4: 94,470,844 (GRCm39)	Y431H	probably benign	Het
Pls1	A	T	9: 95,664,472 (GRCm39)	I177N	possibly damaging	Het
Plxna2	T	C	1: 194,472,138 (GRCm39)	F1035L	probably damaging	Het
Ppp6r3	A	T	19: 3,564,729 (GRCm39)		probably null	Het
Prpf4b	T	C	13: 35,067,890 (GRCm39)	S240P	probably benign	Het
Reg2	T	A	6: 78,383,204 (GRCm39)	Y50*	probably null	Het
Rev3l	C	T	10: 39,682,965 (GRCm39)	T361I	probably benign	Het
Rps4l	A	G	6: 148,256,383 (GRCm39)		probably benign	Het
Scn11a	A	T	9: 119,598,982 (GRCm39)	F1183I	probably damaging	Het
Sh2b2	T	C	5: 136,253,273 (GRCm39)	E327G	probably damaging	Het
Shank2	A	G	7: 143,965,584 (GRCm39)	K1057R	probably damaging	Het
Sim2	T	A	16: 93,915,803 (GRCm39)	Y255*	probably null	Het
Snx9	A	G	17: 5,949,636 (GRCm39)	N112S	probably benign	Het
Sphkap	T	A	1: 83,258,237 (GRCm39)	I169F	probably damaging	Het
Spink5	A	G	18: 44,100,111 (GRCm39)	T43A	probably benign	Het
Stac2	C	T	11: 97,932,005 (GRCm39)	S265N	probably benign	Het
Tbx20	A	G	9: 24,670,044 (GRCm39)	V91A	probably damaging	Het
Tgfbr2	C	T	9: 115,939,257 (GRCm39)	R190H	probably damaging	Het
Ubr2	A	G	17: 47,301,916 (GRCm39)		probably null	Het
Wdfy3	C	T	5: 102,063,204 (GRCm39)		probably null	Het
Wdr82	T	C	9: 106,061,449 (GRCm39)	V166A	probably benign	Het
Zfhx4	C	T	3: 5,307,401 (GRCm39)	A209V	probably damaging	Het

Other mutations in Zfp518b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01096:Zfp518b	APN	5	38,830,131 (GRCm39)	missense	probably benign	0.01
IGL02150:Zfp518b	APN	5	38,831,132 (GRCm39)	missense	probably damaging	1.00
IGL02150:Zfp518b	APN	5	38,830,686 (GRCm39)	missense	probably damaging	1.00
IGL02491:Zfp518b	APN	5	38,831,123 (GRCm39)	missense	possibly damaging	0.90
IGL02643:Zfp518b	APN	5	38,831,498 (GRCm39)	missense	probably damaging	1.00
IGL02710:Zfp518b	APN	5	38,830,061 (GRCm39)	missense	probably damaging	1.00
R0134:Zfp518b	UTSW	5	38,832,002 (GRCm39)	start codon destroyed	probably null	0.92
R0284:Zfp518b	UTSW	5	38,829,083 (GRCm39)	missense	probably damaging	1.00
R0308:Zfp518b	UTSW	5	38,830,113 (GRCm39)	missense	possibly damaging	0.64
R0421:Zfp518b	UTSW	5	38,831,918 (GRCm39)	missense	probably damaging	1.00
R0613:Zfp518b	UTSW	5	38,830,946 (GRCm39)	missense	probably damaging	1.00
R1604:Zfp518b	UTSW	5	38,830,949 (GRCm39)	missense	probably damaging	1.00
R1649:Zfp518b	UTSW	5	38,829,224 (GRCm39)	missense	probably damaging	1.00
R1845:Zfp518b	UTSW	5	38,829,084 (GRCm39)	missense	probably damaging	0.97
R1853:Zfp518b	UTSW	5	38,830,750 (GRCm39)	missense	probably benign	0.00
R2015:Zfp518b	UTSW	5	38,829,345 (GRCm39)	missense	probably benign	0.00
R2256:Zfp518b	UTSW	5	38,828,979 (GRCm39)	missense	possibly damaging	0.90
R3687:Zfp518b	UTSW	5	38,831,455 (GRCm39)	missense	probably damaging	1.00
R4275:Zfp518b	UTSW	5	38,829,071 (GRCm39)	missense	probably damaging	1.00
R4600:Zfp518b	UTSW	5	38,830,970 (GRCm39)	missense	probably damaging	0.98
R4603:Zfp518b	UTSW	5	38,830,970 (GRCm39)	missense	probably damaging	0.98
R4739:Zfp518b	UTSW	5	38,831,841 (GRCm39)	missense	possibly damaging	0.89
R5519:Zfp518b	UTSW	5	38,831,441 (GRCm39)	missense	probably damaging	1.00
R6827:Zfp518b	UTSW	5	38,828,882 (GRCm39)	missense	probably damaging	1.00
R6982:Zfp518b	UTSW	5	38,830,248 (GRCm39)	missense	probably benign	0.00
R7263:Zfp518b	UTSW	5	38,829,671 (GRCm39)	missense	probably damaging	1.00
R7271:Zfp518b	UTSW	5	38,831,907 (GRCm39)	missense	probably benign	0.01
R7354:Zfp518b	UTSW	5	38,840,122 (GRCm39)	start gained	probably benign
R7554:Zfp518b	UTSW	5	38,830,415 (GRCm39)	missense	probably damaging	1.00
R7738:Zfp518b	UTSW	5	38,829,530 (GRCm39)	missense	probably benign	0.20
R7817:Zfp518b	UTSW	5	38,829,741 (GRCm39)	missense	not run
R8166:Zfp518b	UTSW	5	38,831,838 (GRCm39)	missense	probably damaging	0.99
R8471:Zfp518b	UTSW	5	38,831,426 (GRCm39)	missense	probably damaging	1.00
R8505:Zfp518b	UTSW	5	38,830,119 (GRCm39)	missense	probably benign
R9102:Zfp518b	UTSW	5	38,831,181 (GRCm39)	missense	probably benign	0.01
R9205:Zfp518b	UTSW	5	38,831,501 (GRCm39)	missense	probably damaging	1.00
R9253:Zfp518b	UTSW	5	38,829,601 (GRCm39)	missense	probably benign	0.00
R9511:Zfp518b	UTSW	5	38,829,395 (GRCm39)	missense	possibly damaging	0.69
R9574:Zfp518b	UTSW	5	38,830,773 (GRCm39)	missense	probably benign	0.00
R9648:Zfp518b	UTSW	5	38,830,240 (GRCm39)	missense	probably damaging	1.00
R9686:Zfp518b	UTSW	5	38,831,457 (GRCm39)	missense	probably damaging	1.00
Z1088:Zfp518b	UTSW	5	38,831,636 (GRCm39)	missense	probably damaging	0.97

Posted On

2015-08-05