Mutagenetix > Incidental Mutation

Incidental Mutation 'R4766:Zfp512b'

366122

Institutional Source

Beutler Lab

Gene Symbol

Zfp512b

Ensembl Gene

ENSMUSG00000000823

Gene Name

zinc finger protein 512B

Synonyms

LOC269401, Znf512b

MMRRC Submission

042407-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4766 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

181582103-181592803 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 181585095 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057816] [ENSMUST00000108789] [ENSMUST00000128553] [ENSMUST00000129469] [ENSMUST00000131949] [ENSMUST00000140103]

AlphaFold

Q6PHP4

Predicted Effect

probably benign
Transcript: ENSMUST00000057816

SMART Domains

Protein: ENSMUSP00000050398
Gene: ENSMUSG00000089917

Domain	Start	End	E-Value	Type
low complexity region	2	18	N/A	INTRINSIC
Pfam:CPT	98	249	7e-10	PFAM
Pfam:PRK	100	288	5.7e-61	PFAM
Pfam:UPRTase	326	532	2.6e-74	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108789

SMART Domains

Protein: ENSMUSP00000104417
Gene: ENSMUSG00000000823

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

noncoding transcript
Transcript: ENSMUST00000122831

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123110

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126672

Predicted Effect

probably benign
Transcript: ENSMUST00000128553

SMART Domains

Protein: ENSMUSP00000115601
Gene: ENSMUSG00000000823

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

probably benign
Transcript: ENSMUST00000129469

SMART Domains

Protein: ENSMUSP00000121607
Gene: ENSMUSG00000089917

Domain	Start	End	E-Value	Type
low complexity region	2	18	N/A	INTRINSIC
Pfam:CPT	98	210	5.1e-10	PFAM
Pfam:AAA_17	100	251	1.1e-8	PFAM
Pfam:PRK	100	288	3.4e-60	PFAM
Pfam:AAA_18	101	257	5.8e-8	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131866

Predicted Effect

probably benign
Transcript: ENSMUST00000131949

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

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: ENSMUST00000152365

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148847

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183624

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146823

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148004

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155947

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150552

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.9%

Validation Efficiency

97% (87/90)

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	C	T	5: 113,097,636	V1584I	probably benign	Het
A430105I19Rik	C	A	2: 118,759,577	R262L	probably damaging	Het
Adamts12	A	G	15: 11,285,901	D732G	probably benign	Het
Agpat4	A	G	17: 12,151,750		probably benign	Het
AI182371	T	C	2: 35,095,817	D140G	possibly damaging	Het
Apol11b	T	A	15: 77,634,933	T316S	probably benign	Het
Arsi	G	A	18: 60,916,651	G202E	probably benign	Het
Bard1	T	C	1: 71,075,174	E216G	probably benign	Het
Bdp1	C	A	13: 100,049,868	R1692L	probably damaging	Het
Capn10	T	C	1: 92,943,419	I101T	probably damaging	Het
Ccdc175	C	T	12: 72,112,205	M653I	probably benign	Het
Ccr8	G	A	9: 120,094,464	C215Y	probably damaging	Het
Cct3	T	A	3: 88,311,785	L241*	probably null	Het
Cd2ap	A	T	17: 42,852,459	I25N	probably damaging	Het
Cdh19	T	C	1: 110,893,260	K583E	probably benign	Het
Cela3a	A	G	4: 137,402,675	S212P	unknown	Het
Cfap44	T	A	16: 44,415,883		probably null	Het
Clca3a1	A	T	3: 144,749,712	L440Q	probably damaging	Het
Crybg2	A	G	4: 134,089,352	Y1676C	probably damaging	Het
Dscam	T	C	16: 96,643,988	D1501G	probably benign	Het
Eml6	C	A	11: 29,805,757	L832F	probably benign	Het
Enpp3	A	G	10: 24,773,927	L867P	probably damaging	Het
Erbb3	A	G	10: 128,586,238	Y46H	possibly damaging	Het
Fads3	T	C	19: 10,056,020	I342T	possibly damaging	Het
Flvcr1	A	T	1: 191,021,106	S290T	probably benign	Het
Fut9	A	G	4: 25,799,191		probably benign	Het
Gad2	C	T	2: 22,622,667	A2V	probably damaging	Het
Gkn3	C	T	6: 87,383,525	A163T	probably damaging	Het
Gm10715	T	G	9: 3,038,073		probably benign	Het
Herc1	T	G	9: 66,441,929	D2023E	probably benign	Het
Hsd3b3	A	G	3: 98,742,485	L174P	probably damaging	Het
Impg2	TACCACCACCACCACCACCACCACCA	TACCACCACCACCACCACCACCA	16: 56,257,939		probably benign	Het
Iqcf3	A	G	9: 106,560,949		probably null	Het
Kcna4	G	A	2: 107,296,543	V541M	probably damaging	Het
Kcnj11	T	C	7: 46,099,816	T28A	probably benign	Het
Kcnmb2	T	A	3: 32,181,867	N88K	probably damaging	Het
Kdm2a	TTCCTCCTCCTCCTCCTCTTCCTCCTCCTC	TTCCTCCTCCTCCTCTTCCTCCTCCTC	19: 4,324,507		probably benign	Het
Krt2	T	C	15: 101,813,960	E430G	probably damaging	Het
Lins1	C	T	7: 66,710,641	L384F	possibly damaging	Het
Man1c1	G	C	4: 134,703,438	P11R	probably damaging	Het
Mfge8	T	C	7: 79,134,525	N389D	probably damaging	Het
Mug1	C	T	6: 121,884,254	T1278I	probably benign	Het
Myh9	T	C	15: 77,807,877	M161V	probably damaging	Het
Myl7	T	A	11: 5,898,171	Y61F	probably benign	Het
Nlrp4d	A	T	7: 10,362,779		unknown	Het
Nol3	A	G	8: 105,281,933		probably null	Het
Nup85	T	A	11: 115,577,925		probably null	Het
Obscn	T	A	11: 59,012,742	T7619S	probably damaging	Het
Olfr1298	T	C	2: 111,645,881	M39V	probably benign	Het
Olfr331	T	A	11: 58,501,668	N296I	probably damaging	Het
Olfr628	C	T	7: 103,732,250	T108I	possibly damaging	Het
Olfr844	G	A	9: 19,318,845	V104I	probably benign	Het
Pax5	T	A	4: 44,679,494	I184F	probably damaging	Het
Pcdha7	T	A	18: 36,974,507	V195D	probably damaging	Het
Phf3	A	T	1: 30,813,939		probably benign	Het
Pla2g15	G	T	8: 106,163,071	G325V	probably damaging	Het
Ppp1r21	T	C	17: 88,572,615	F487L	probably benign	Het
Ppp1r9a	A	G	6: 5,157,016	I965V	probably benign	Het
Ptpru	A	G	4: 131,820,964	V74A	probably damaging	Het
Rif1	T	A	2: 52,098,934	Y780N	probably damaging	Het
Rps25	T	A	9: 44,408,749	Y23N	possibly damaging	Het
Ryr1	T	C	7: 29,085,833	D1811G	probably damaging	Het
Scamp5	T	G	9: 57,452,036		probably null	Het
Senp1	T	C	15: 98,045,896	D602G	probably damaging	Het
Sh2b2	T	G	5: 136,231,957	D135A	probably damaging	Het
Slc26a8	G	A	17: 28,638,661	T836M	probably benign	Het
Slfn4	T	G	11: 83,186,821	I145S	possibly damaging	Het
Spag6l	G	A	16: 16,777,390	T377I	probably benign	Het
Spdye4b	T	C	5: 143,196,334	F129S	probably damaging	Het
Sspo	G	A	6: 48,470,580	G2360E	probably benign	Het
Taar2	A	T	10: 23,940,771	I70F	probably damaging	Het
Taar7e	A	G	10: 24,038,566	N318S	probably damaging	Het
Tor1a	C	A	2: 30,967,730	R42L	probably benign	Het
Trdn	A	T	10: 33,474,506	Q690H	probably benign	Het
Trim56	C	A	5: 137,112,725	V646L	probably benign	Het
Tspan15	T	A	10: 62,191,544	K165I	probably benign	Het
Usp24	A	G	4: 106,416,048	Y2210C	probably damaging	Het
Usp45	A	G	4: 21,797,307	T76A	probably damaging	Het
Vps13c	T	A	9: 67,878,224		probably null	Het
Zyx	C	A	6: 42,356,159		probably null	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
IGL03238:Zfp512b	APN	2	181589760	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- AGCTTAGATGCTGGCTCCTC -3'
(R):5'- TCCTAATGGTTGTATGCCCAG -3'

Sequencing Primer
(F):5'- TCCTCGGAGGATCGTTCC -3'
(R):5'- GAGGACCAGAGTTTATTTCCCAGC -3'

Posted On

2015-12-21