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

181223925-181234572 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 181226888 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

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: ENSMUST00000152365

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148847

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

noncoding transcript
Transcript: ENSMUST00000146823

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136759

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148004

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131866

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155947

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150552

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

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: 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: ENSMUST00000131949

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: ENSMUST00000183624

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: 113,245,502 (GRCm39)	V1584I	probably benign	Het
Adamts12	A	G	15: 11,285,987 (GRCm39)	D732G	probably benign	Het
Agpat4	A	G	17: 12,370,637 (GRCm39)		probably benign	Het
AI182371	T	C	2: 34,985,829 (GRCm39)	D140G	possibly damaging	Het
Apol11b	T	A	15: 77,519,133 (GRCm39)	T316S	probably benign	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Bard1	T	C	1: 71,114,333 (GRCm39)	E216G	probably benign	Het
Bdp1	C	A	13: 100,186,376 (GRCm39)	R1692L	probably damaging	Het
Capn10	T	C	1: 92,871,141 (GRCm39)	I101T	probably damaging	Het
Ccdc175	C	T	12: 72,158,979 (GRCm39)	M653I	probably benign	Het
Ccdc9b	C	A	2: 118,590,058 (GRCm39)	R262L	probably damaging	Het
Ccr8	G	A	9: 119,923,530 (GRCm39)	C215Y	probably damaging	Het
Cct3	T	A	3: 88,219,092 (GRCm39)	L241*	probably null	Het
Cd2ap	A	T	17: 43,163,350 (GRCm39)	I25N	probably damaging	Het
Cdh19	T	C	1: 110,820,990 (GRCm39)	K583E	probably benign	Het
Cela3a	A	G	4: 137,129,986 (GRCm39)	S212P	unknown	Het
Cfap44	T	A	16: 44,236,246 (GRCm39)		probably null	Het
Clca3a1	A	T	3: 144,455,473 (GRCm39)	L440Q	probably damaging	Het
Crybg2	A	G	4: 133,816,663 (GRCm39)	Y1676C	probably damaging	Het
Dscam	T	C	16: 96,445,188 (GRCm39)	D1501G	probably benign	Het
Eml6	C	A	11: 29,755,757 (GRCm39)	L832F	probably benign	Het
Enpp3	A	G	10: 24,649,825 (GRCm39)	L867P	probably damaging	Het
Erbb3	A	G	10: 128,422,107 (GRCm39)	Y46H	possibly damaging	Het
Fads3	T	C	19: 10,033,384 (GRCm39)	I342T	possibly damaging	Het
Flvcr1	A	T	1: 190,753,303 (GRCm39)	S290T	probably benign	Het
Fut9	A	G	4: 25,799,191 (GRCm39)		probably benign	Het
Gad2	C	T	2: 22,512,679 (GRCm39)	A2V	probably damaging	Het
Gkn3	C	T	6: 87,360,507 (GRCm39)	A163T	probably damaging	Het
Gm10715	T	G	9: 3,038,073 (GRCm39)		probably benign	Het
Herc1	T	G	9: 66,349,211 (GRCm39)	D2023E	probably benign	Het
Hsd3b3	A	G	3: 98,649,801 (GRCm39)	L174P	probably damaging	Het
Impg2	TACCACCACCACCACCACCACCACCA	TACCACCACCACCACCACCACCA	16: 56,078,302 (GRCm39)		probably benign	Het
Iqcf3	A	G	9: 106,438,148 (GRCm39)		probably null	Het
Kcna4	G	A	2: 107,126,888 (GRCm39)	V541M	probably damaging	Het
Kcnj11	T	C	7: 45,749,240 (GRCm39)	T28A	probably benign	Het
Kcnmb2	T	A	3: 32,236,016 (GRCm39)	N88K	probably damaging	Het
Kdm2a	TTCCTCCTCCTCCTCCTCTTCCTCCTCCTC	TTCCTCCTCCTCCTCTTCCTCCTCCTC	19: 4,374,535 (GRCm39)		probably benign	Het
Krt1c	T	C	15: 101,722,395 (GRCm39)	E430G	probably damaging	Het
Lins1	C	T	7: 66,360,389 (GRCm39)	L384F	possibly damaging	Het
Man1c1	G	C	4: 134,430,749 (GRCm39)	P11R	probably damaging	Het
Mfge8	T	C	7: 78,784,273 (GRCm39)	N389D	probably damaging	Het
Mug1	C	T	6: 121,861,213 (GRCm39)	T1278I	probably benign	Het
Myh9	T	C	15: 77,692,077 (GRCm39)	M161V	probably damaging	Het
Myl7	T	A	11: 5,848,171 (GRCm39)	Y61F	probably benign	Het
Nlrp4d	A	T	7: 10,096,706 (GRCm39)		unknown	Het
Nol3	A	G	8: 106,008,565 (GRCm39)		probably null	Het
Nup85	T	A	11: 115,468,751 (GRCm39)		probably null	Het
Obscn	T	A	11: 58,903,568 (GRCm39)	T7619S	probably damaging	Het
Or2t49	T	A	11: 58,392,494 (GRCm39)	N296I	probably damaging	Het
Or4k48	T	C	2: 111,476,226 (GRCm39)	M39V	probably benign	Het
Or52a24	C	T	7: 103,381,457 (GRCm39)	T108I	possibly damaging	Het
Or7g26	G	A	9: 19,230,141 (GRCm39)	V104I	probably benign	Het
Pax5	T	A	4: 44,679,494 (GRCm39)	I184F	probably damaging	Het
Pcdha7	T	A	18: 37,107,560 (GRCm39)	V195D	probably damaging	Het
Phf3	A	T	1: 30,853,020 (GRCm39)		probably benign	Het
Pla2g15	G	T	8: 106,889,703 (GRCm39)	G325V	probably damaging	Het
Ppp1r21	T	C	17: 88,880,043 (GRCm39)	F487L	probably benign	Het
Ppp1r9a	A	G	6: 5,157,016 (GRCm39)	I965V	probably benign	Het
Ptpru	A	G	4: 131,548,275 (GRCm39)	V74A	probably damaging	Het
Rif1	T	A	2: 51,988,946 (GRCm39)	Y780N	probably damaging	Het
Rps25	T	A	9: 44,320,046 (GRCm39)	Y23N	possibly damaging	Het
Ryr1	T	C	7: 28,785,258 (GRCm39)	D1811G	probably damaging	Het
Scamp5	T	G	9: 57,359,319 (GRCm39)		probably null	Het
Senp1	T	C	15: 97,943,777 (GRCm39)	D602G	probably damaging	Het
Sh2b2	T	G	5: 136,260,811 (GRCm39)	D135A	probably damaging	Het
Slc26a8	G	A	17: 28,857,635 (GRCm39)	T836M	probably benign	Het
Slfn4	T	G	11: 83,077,647 (GRCm39)	I145S	possibly damaging	Het
Spag6l	G	A	16: 16,595,254 (GRCm39)	T377I	probably benign	Het
Spdye4b	T	C	5: 143,182,089 (GRCm39)	F129S	probably damaging	Het
Sspo	G	A	6: 48,447,514 (GRCm39)	G2360E	probably benign	Het
Taar2	A	T	10: 23,816,669 (GRCm39)	I70F	probably damaging	Het
Taar7e	A	G	10: 23,914,464 (GRCm39)	N318S	probably damaging	Het
Tor1a	C	A	2: 30,857,742 (GRCm39)	R42L	probably benign	Het
Trdn	A	T	10: 33,350,502 (GRCm39)	Q690H	probably benign	Het
Trim56	C	A	5: 137,141,579 (GRCm39)	V646L	probably benign	Het
Tspan15	T	A	10: 62,027,323 (GRCm39)	K165I	probably benign	Het
Usp24	A	G	4: 106,273,245 (GRCm39)	Y2210C	probably damaging	Het
Usp45	A	G	4: 21,797,307 (GRCm39)	T76A	probably damaging	Het
Vps13c	T	A	9: 67,785,506 (GRCm39)		probably null	Het
Zyx	C	A	6: 42,333,093 (GRCm39)		probably null	Het

Other mutations in Zfp512b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00492:Zfp512b	APN	2	181,228,862 (GRCm39)	missense	probably damaging	0.98
IGL00667:Zfp512b	APN	2	181,231,526 (GRCm39)	missense	probably damaging	0.97
IGL00763:Zfp512b	APN	2	181,231,944 (GRCm39)	missense	probably damaging	1.00
IGL01448:Zfp512b	APN	2	181,229,578 (GRCm39)	missense	possibly damaging	0.62
IGL01788:Zfp512b	APN	2	181,230,556 (GRCm39)	missense	possibly damaging	0.86
IGL02048:Zfp512b	APN	2	181,231,715 (GRCm39)	missense	possibly damaging	0.77
IGL02752:Zfp512b	APN	2	181,229,864 (GRCm39)	missense	possibly damaging	0.46
IGL03238:Zfp512b	APN	2	181,231,553 (GRCm39)	missense	probably damaging	1.00
R0421:Zfp512b	UTSW	2	181,230,051 (GRCm39)	nonsense	probably null
R0507:Zfp512b	UTSW	2	181,226,757 (GRCm39)	unclassified	probably benign
R0713:Zfp512b	UTSW	2	181,230,093 (GRCm39)	missense	possibly damaging	0.79
R1074:Zfp512b	UTSW	2	181,230,972 (GRCm39)	missense	probably damaging	0.96
R1513:Zfp512b	UTSW	2	181,230,982 (GRCm39)	missense	probably benign	0.00
R1560:Zfp512b	UTSW	2	181,230,472 (GRCm39)	missense	probably benign	0.00
R1595:Zfp512b	UTSW	2	181,230,229 (GRCm39)	missense	probably damaging	1.00
R1673:Zfp512b	UTSW	2	181,230,286 (GRCm39)	missense	possibly damaging	0.61
R1845:Zfp512b	UTSW	2	181,227,528 (GRCm39)	missense	probably damaging	1.00
R1888:Zfp512b	UTSW	2	181,230,235 (GRCm39)	missense	probably damaging	0.99
R1888:Zfp512b	UTSW	2	181,230,235 (GRCm39)	missense	probably damaging	0.99
R1943:Zfp512b	UTSW	2	181,230,208 (GRCm39)	missense	probably damaging	1.00
R1975:Zfp512b	UTSW	2	181,228,878 (GRCm39)	nonsense	probably null
R2520:Zfp512b	UTSW	2	181,231,295 (GRCm39)	missense	probably damaging	1.00
R3876:Zfp512b	UTSW	2	181,230,556 (GRCm39)	frame shift	probably null
R3877:Zfp512b	UTSW	2	181,230,556 (GRCm39)	frame shift	probably null
R4171:Zfp512b	UTSW	2	181,232,391 (GRCm39)	splice site	probably null
R4607:Zfp512b	UTSW	2	181,230,567 (GRCm39)	missense	probably damaging	1.00
R4732:Zfp512b	UTSW	2	181,230,532 (GRCm39)	missense	probably benign
R4733:Zfp512b	UTSW	2	181,230,532 (GRCm39)	missense	probably benign
R4888:Zfp512b	UTSW	2	181,228,856 (GRCm39)	missense	probably damaging	1.00
R4965:Zfp512b	UTSW	2	181,228,131 (GRCm39)	missense	probably damaging	1.00
R5632:Zfp512b	UTSW	2	181,227,461 (GRCm39)	missense	probably benign	0.27
R6897:Zfp512b	UTSW	2	181,232,273 (GRCm39)	missense	probably damaging	1.00
R6970:Zfp512b	UTSW	2	181,228,141 (GRCm39)	missense	possibly damaging	0.92
R7432:Zfp512b	UTSW	2	181,231,649 (GRCm39)	missense	probably benign
R7560:Zfp512b	UTSW	2	181,228,875 (GRCm39)	missense	probably damaging	1.00
R7935:Zfp512b	UTSW	2	181,231,689 (GRCm39)	missense	probably damaging	1.00
R8045:Zfp512b	UTSW	2	181,226,617 (GRCm39)	makesense	probably null
R8321:Zfp512b	UTSW	2	181,228,931 (GRCm39)	missense	possibly damaging	0.86
R8821:Zfp512b	UTSW	2	181,228,525 (GRCm39)	missense	probably benign	0.01
R8913:Zfp512b	UTSW	2	181,227,282 (GRCm39)	missense
R9010:Zfp512b	UTSW	2	181,230,011 (GRCm39)	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