Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03238:Zfp512b'

414167

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zfp512b

Ensembl Gene

ENSMUSG00000000823

Gene Name

zinc finger protein 512B

Synonyms

LOC269401, Znf512b

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03238

Quality Score

Status

Chromosome

Chromosomal Location

181582103-181592803 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 181589760 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 199 (V199A)

Ref Sequence

ENSEMBL: ENSMUSP00000104417 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000108789] [ENSMUST00000128553] [ENSMUST00000132714] [ENSMUST00000140103] [ENSMUST00000153998]

AlphaFold

Q6PHP4

Predicted Effect

probably damaging
Transcript: ENSMUST00000108789
AA Change: V199A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000104417
Gene: ENSMUSG00000000823
AA Change: V199A

Domain	Start	End	E-Value	Type
low complexity region	15	26	N/A	INTRINSIC
ZnF_C2H2	106	128	5.83e1	SMART
ZnF_C2H2	141	164	3.89e-3	SMART
internal_repeat_1	168	224	4.38e-14	PROSPERO
internal_repeat_1	246	302	4.38e-14	PROSPERO
ZnF_C2H2	487	511	5.68e1	SMART
ZnF_C2H2	517	540	2.91e-2	SMART
low complexity region	547	560	N/A	INTRINSIC
ZnF_C2H2	571	593	1.59e1	SMART
ZnF_C2H2	607	630	4.4e-2	SMART
Blast:ZnF_C2H2	727	756	8e-11	BLAST
ZnF_C2H2	761	784	1.45e-2	SMART
low complexity region	808	832	N/A	INTRINSIC
low complexity region	838	856	N/A	INTRINSIC
low complexity region	858	866	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000128553
AA Change: V209A

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000115601
Gene: ENSMUSG00000000823
AA Change: V209A

Domain	Start	End	E-Value	Type
ZnF_C2H2	85	107	5.83e1	SMART
low complexity region	111	124	N/A	INTRINSIC
low complexity region	130	140	N/A	INTRINSIC
ZnF_C2H2	151	174	3.89e-3	SMART
internal_repeat_1	178	234	1.6e-14	PROSPERO
internal_repeat_1	256	312	1.6e-14	PROSPERO
ZnF_C2H2	497	521	5.68e1	SMART
ZnF_C2H2	527	550	2.91e-2	SMART
low complexity region	557	570	N/A	INTRINSIC
ZnF_C2H2	581	603	1.59e1	SMART
ZnF_C2H2	617	640	4.4e-2	SMART
internal_repeat_2	723	761	4.94e-7	PROSPERO
ZnF_C2H2	771	794	1.45e-2	SMART
low complexity region	818	842	N/A	INTRINSIC
low complexity region	848	866	N/A	INTRINSIC
low complexity region	868	876	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131866

Predicted Effect

probably benign
Transcript: ENSMUST00000132538

SMART Domains

Protein: ENSMUSP00000119677
Gene: ENSMUSG00000000823

Domain	Start	End	E-Value	Type
ZnF_C2H2	46	70	5.68e1	SMART
ZnF_C2H2	76	99	2.91e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000132714

SMART Domains

Protein: ENSMUSP00000117711
Gene: ENSMUSG00000002455

Domain	Start	End	E-Value	Type
Pfam:PRP1_N	1	54	6e-11	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133598

SMART Domains

Protein: ENSMUSP00000114378
Gene: ENSMUSG00000000823

Domain	Start	End	E-Value	Type
low complexity region	15	26	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000135561

SMART Domains

Protein: ENSMUSP00000121721
Gene: ENSMUSG00000000823

Domain	Start	End	E-Value	Type
ZnF_C2H2	12	35	1.45e-2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136759

Predicted Effect

probably benign
Transcript: ENSMUST00000140103

SMART Domains

Protein: ENSMUSP00000123579
Gene: ENSMUSG00000000823

Domain	Start	End	E-Value	Type
Blast:ZnF_C2H2	2	24	8e-7	BLAST
ZnF_C2H2	29	52	1.45e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000144856

SMART Domains

Protein: ENSMUSP00000114982
Gene: ENSMUSG00000089917

Domain	Start	End	E-Value	Type
low complexity region	1	12	N/A	INTRINSIC
Pfam:CPT	83	211	2.7e-10	PFAM
Pfam:PRK	85	253	7.7e-56	PFAM
Pfam:AAA_17	86	240	2.5e-8	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150552

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152365

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183624

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155947

Predicted Effect

probably benign
Transcript: ENSMUST00000153998

SMART Domains

Protein: ENSMUSP00000123096
Gene: ENSMUSG00000000823

Domain	Start	End	E-Value	Type
low complexity region	15	26	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2	A	C	3: 60,024,918	T285P	probably benign	Het
Abcf1	T	C	17: 35,963,323	K186E	probably damaging	Het
Adam3	T	C	8: 24,687,965		probably null	Het
Art1	T	C	7: 102,110,749	V85A	possibly damaging	Het
Ccdc110	A	G	8: 45,941,822	H250R	probably benign	Het
Cyp3a13	T	A	5: 137,898,889	I388F	probably damaging	Het
Dnah11	C	T	12: 118,109,898	V1425M	probably damaging	Het
Donson	G	A	16: 91,681,246	Q22*	probably null	Het
Eif2b2	A	G	12: 85,223,399	T238A	probably benign	Het
Emc2	T	A	15: 43,507,853		probably null	Het
Fkbp4	A	T	6: 128,434,757	V123E	probably damaging	Het
Frem2	A	T	3: 53,656,261	M275K	possibly damaging	Het
Gcat	T	A	15: 79,036,010		probably benign	Het
Gemin2	G	A	12: 59,016,962		probably benign	Het
Ilf3	T	A	9: 21,392,350	V169E	probably damaging	Het
Klra17	T	C	6: 129,868,810	H147R	probably benign	Het
Lama5	A	G	2: 180,188,574	I1880T	probably benign	Het
Lzts1	T	C	8: 69,138,794	D234G	probably damaging	Het
Map3k4	G	A	17: 12,271,158	P462L	probably benign	Het
March6	C	A	15: 31,461,941		probably benign	Het
Mcm6	A	T	1: 128,355,520	F83I	probably benign	Het
Mtpn	A	G	6: 35,522,773	L32P	probably damaging	Het
Mybpc3	A	T	2: 91,131,659	I841F	probably damaging	Het
Ndst2	G	T	14: 20,728,504	H399N	probably damaging	Het
Npat	G	T	9: 53,570,426	V1145F	probably damaging	Het
Olfr65	G	A	7: 103,906,510	A21T	probably benign	Het
P2ry1	T	A	3: 61,004,495	S352T	probably damaging	Het
Plaa	T	C	4: 94,583,896	T326A	probably benign	Het
Ppdpf	T	C	2: 181,187,880	S43P	probably benign	Het
Prpmp5	T	A	6: 132,312,345	Q172L	unknown	Het
Setd1a	C	T	7: 127,785,546	T523I	possibly damaging	Het
Sgcz	C	T	8: 37,563,140		probably null	Het
Slc12a2	T	C	18: 57,914,234	Y740H	possibly damaging	Het
Stab2	A	G	10: 86,855,121	C745R	probably damaging	Het
Tmem101	A	T	11: 102,155,785	L86Q	probably damaging	Het
Tmtc3	A	C	10: 100,477,840	F57V	probably damaging	Het
Vps50	A	G	6: 3,594,771	K778R	possibly damaging	Het
Washc5	G	A	15: 59,346,842	T692M	probably damaging	Het
Zc3hav1	A	T	6: 38,332,750	V379D	probably damaging	Het
Zfp142	G	T	1: 74,576,278	R459S	probably benign	Het

Other mutations in Zfp512b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00492:Zfp512b	APN	2	181587069	missense	probably damaging	0.98
IGL00667:Zfp512b	APN	2	181589733	missense	probably damaging	0.97
IGL00763:Zfp512b	APN	2	181590151	missense	probably damaging	1.00
IGL01448:Zfp512b	APN	2	181587785	missense	possibly damaging	0.62
IGL01788:Zfp512b	APN	2	181588763	missense	possibly damaging	0.86
IGL02048:Zfp512b	APN	2	181589922	missense	possibly damaging	0.77
IGL02752:Zfp512b	APN	2	181588071	missense	possibly damaging	0.46
R0421:Zfp512b	UTSW	2	181588258	nonsense	probably null
R0507:Zfp512b	UTSW	2	181584964	unclassified	probably benign
R0713:Zfp512b	UTSW	2	181588300	missense	possibly damaging	0.79
R1074:Zfp512b	UTSW	2	181589179	missense	probably damaging	0.96
R1513:Zfp512b	UTSW	2	181589189	missense	probably benign	0.00
R1560:Zfp512b	UTSW	2	181588679	missense	probably benign	0.00
R1595:Zfp512b	UTSW	2	181588436	missense	probably damaging	1.00
R1673:Zfp512b	UTSW	2	181588493	missense	possibly damaging	0.61
R1845:Zfp512b	UTSW	2	181585735	missense	probably damaging	1.00
R1888:Zfp512b	UTSW	2	181588442	missense	probably damaging	0.99
R1888:Zfp512b	UTSW	2	181588442	missense	probably damaging	0.99
R1943:Zfp512b	UTSW	2	181588415	missense	probably damaging	1.00
R1975:Zfp512b	UTSW	2	181587085	nonsense	probably null
R2520:Zfp512b	UTSW	2	181589502	missense	probably damaging	1.00
R3876:Zfp512b	UTSW	2	181588763	frame shift	probably null
R3877:Zfp512b	UTSW	2	181588763	frame shift	probably null
R4171:Zfp512b	UTSW	2	181590598	splice site	probably null
R4607:Zfp512b	UTSW	2	181588774	missense	probably damaging	1.00
R4732:Zfp512b	UTSW	2	181588739	missense	probably benign
R4733:Zfp512b	UTSW	2	181588739	missense	probably benign
R4766:Zfp512b	UTSW	2	181585095	unclassified	probably benign
R4888:Zfp512b	UTSW	2	181587063	missense	probably damaging	1.00
R4965:Zfp512b	UTSW	2	181586338	missense	probably damaging	1.00
R5632:Zfp512b	UTSW	2	181585668	missense	probably benign	0.27
R6897:Zfp512b	UTSW	2	181590480	missense	probably damaging	1.00
R6970:Zfp512b	UTSW	2	181586348	missense	possibly damaging	0.92
R7432:Zfp512b	UTSW	2	181589856	missense	probably benign
R7560:Zfp512b	UTSW	2	181587082	missense	probably damaging	1.00
R7935:Zfp512b	UTSW	2	181589896	missense	probably damaging	1.00
R8045:Zfp512b	UTSW	2	181584824	makesense	probably null
R8321:Zfp512b	UTSW	2	181587138	missense	possibly damaging	0.86
R8821:Zfp512b	UTSW	2	181586732	missense	probably benign	0.01
R8913:Zfp512b	UTSW	2	181585489	missense
R9010:Zfp512b	UTSW	2	181588218	missense	possibly damaging	0.59

Posted On

2016-08-02