Mutagenetix > Incidental Mutation

Incidental Mutation 'R6970:Zfp512b'

542162

Institutional Source

Beutler Lab

Gene Symbol

Zfp512b

Ensembl Gene

ENSMUSG00000000823

Gene Name

zinc finger protein 512B

Synonyms

LOC269401, Znf512b

MMRRC Submission

045080-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6970 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

181223925-181234572 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 181228141 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 5 (I5T)

Ref Sequence

ENSEMBL: ENSMUSP00000123579 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057816] [ENSMUST00000108789] [ENSMUST00000128553] [ENSMUST00000129469] [ENSMUST00000131949] [ENSMUST00000140103] [ENSMUST00000153998]

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

possibly damaging
Transcript: ENSMUST00000108789
AA Change: I737T

PolyPhen 2 Score 0.601 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000104417
Gene: ENSMUSG00000000823
AA Change: I737T

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

possibly damaging
Transcript: ENSMUST00000128553
AA Change: I747T

PolyPhen 2 Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000115601
Gene: ENSMUSG00000000823
AA Change: I747T

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

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

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

possibly damaging
Transcript: ENSMUST00000140103
AA Change: I5T

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000123579
Gene: ENSMUSG00000000823
AA Change: I5T

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

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

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadsb	T	C	7: 131,036,044 (GRCm39)	Y285H	possibly damaging	Het
Adam17	A	G	12: 21,395,669 (GRCm39)	S285P	probably benign	Het
Adcy10	A	G	1: 165,384,485 (GRCm39)	N1082S	probably benign	Het
Ahdc1	T	A	4: 132,789,656 (GRCm39)	L299Q	possibly damaging	Het
Ambra1	T	A	2: 91,602,945 (GRCm39)		probably benign	Het
Arfgef1	T	C	1: 10,223,903 (GRCm39)	Q1465R	probably damaging	Het
Arfgef1	G	T	1: 10,223,904 (GRCm39)	Q1465K	probably damaging	Het
Atp8a1	A	G	5: 67,895,805 (GRCm39)	V543A	probably damaging	Het
BC034090	T	A	1: 155,117,185 (GRCm39)	D311V	probably damaging	Het
Blnk	G	T	19: 40,950,821 (GRCm39)	P110Q	probably damaging	Het
Cc2d2a	A	G	5: 43,875,927 (GRCm39)	E968G	probably damaging	Het
Ccdc14	A	T	16: 34,529,903 (GRCm39)	E394V	probably damaging	Het
Ccdc162	A	T	10: 41,491,954 (GRCm39)	H1086Q	probably benign	Het
Ccdc85b	T	A	19: 5,507,248 (GRCm39)	I60F	probably damaging	Het
Ceacam20	T	A	7: 19,723,902 (GRCm39)	L562Q	probably damaging	Het
Cntrl	T	C	2: 35,008,149 (GRCm39)	F188L	probably benign	Het
Cplane1	T	C	15: 8,217,032 (GRCm39)	V750A	probably benign	Het
Dclk1	A	T	3: 55,374,022 (GRCm39)		probably benign	Het
Ddx20	A	T	3: 105,587,674 (GRCm39)	L434H	probably damaging	Het
Ddx51	G	A	5: 110,804,728 (GRCm39)	V547M	probably damaging	Het
Dnah11	T	A	12: 118,072,679 (GRCm39)	Q1472L	probably benign	Het
Dnajb13	T	C	7: 100,156,629 (GRCm39)	E149G	probably damaging	Het
Efcab3	A	G	11: 104,667,182 (GRCm39)	E1422G	probably benign	Het
Eif1ad8	G	T	12: 87,563,388 (GRCm39)		probably benign	Het
Fat4	A	G	3: 39,035,924 (GRCm39)	N3192S	probably damaging	Het
Fat4	A	T	3: 39,050,120 (GRCm39)	D3994V	probably damaging	Het
Fcgr1	C	A	3: 96,191,936 (GRCm39)		probably null	Het
Gm12185	G	A	11: 48,798,739 (GRCm39)	R585*	probably null	Het
Gm32687	A	G	10: 81,715,304 (GRCm39)	H232R	probably benign	Het
Gm5431	G	T	11: 48,779,317 (GRCm39)	A535D	probably damaging	Het
Jarid2	C	T	13: 45,056,461 (GRCm39)	P556S	probably damaging	Het
Map3k4	C	A	17: 12,467,803 (GRCm39)	G1077V	probably damaging	Het
Mast4	C	T	13: 102,941,155 (GRCm39)	V301I	probably damaging	Het
Mlxip	A	G	5: 123,583,735 (GRCm39)	T433A	possibly damaging	Het
Ms4a20	A	G	19: 11,089,678 (GRCm39)		probably null	Het
Mus81	G	T	19: 5,535,554 (GRCm39)	H199Q	probably benign	Het
Mylk3	G	A	8: 86,085,892 (GRCm39)	T54M	probably damaging	Het
Nalcn	A	G	14: 123,551,506 (GRCm39)	F1034L	possibly damaging	Het
Nfatc1	A	C	18: 80,710,228 (GRCm39)	S513A	probably benign	Het
Ninj2	A	G	6: 120,175,092 (GRCm39)	I88V	possibly damaging	Het
Nomo1	C	T	7: 45,695,391 (GRCm39)	P277L	probably damaging	Het
Nup214	C	T	2: 31,941,810 (GRCm39)	S571L	probably damaging	Het
Or10g9b	T	A	9: 39,918,009 (GRCm39)	M79L	probably benign	Het
Or5b3	T	A	19: 13,388,792 (GRCm39)	N286K	probably damaging	Het
Or9a7	T	C	6: 40,521,590 (GRCm39)	S108G	probably benign	Het
Pcdh15	C	T	10: 74,338,519 (GRCm39)	P1005S	probably damaging	Het
Pkhd1l1	G	A	15: 44,375,070 (GRCm39)	A942T	possibly damaging	Het
Plagl1	T	C	10: 13,000,860 (GRCm39)	C34R	probably damaging	Het
Plekha2	T	C	8: 25,549,280 (GRCm39)	Q168R	probably benign	Het
Plekha6	G	A	1: 133,191,556 (GRCm39)	A146T	probably benign	Het
Plekhm3	T	G	1: 64,931,912 (GRCm39)	K564T	possibly damaging	Het
Plpp2	A	G	10: 79,366,380 (GRCm39)	V26A	possibly damaging	Het
Prdm10	T	G	9: 31,241,119 (GRCm39)	Y302*	probably null	Het
Prdm8	A	G	5: 98,332,471 (GRCm39)	E124G	probably damaging	Het
Prg4	T	G	1: 150,331,657 (GRCm39)		probably benign	Het
Qser1	A	G	2: 104,618,475 (GRCm39)	V779A	probably benign	Het
Rbm39	G	A	2: 156,009,504 (GRCm39)	R123C	probably damaging	Het
Ric1	C	T	19: 29,565,172 (GRCm39)	P640S	probably damaging	Het
Rpl14	G	A	9: 120,403,293 (GRCm39)		probably benign	Het
Rsl1d1	T	A	16: 11,011,558 (GRCm39)	D382V	probably benign	Het
Rubcn	G	T	16: 32,688,514 (GRCm39)		probably benign	Het
Sec16a	G	A	2: 26,320,498 (GRCm39)	R1361C	probably damaging	Het
Slc26a11	T	G	11: 119,247,798 (GRCm39)	V41G	probably damaging	Het
Slc41a2	A	G	10: 83,151,960 (GRCm39)	F172L	possibly damaging	Het
Slc4a4	A	C	5: 89,327,690 (GRCm39)	Y674S	probably damaging	Het
Spata31e3	A	T	13: 50,401,007 (GRCm39)	Y440N	possibly damaging	Het
Strc	A	C	2: 121,208,495 (GRCm39)	M292R	probably benign	Het
Syde2	A	G	3: 145,694,381 (GRCm39)	T210A	probably benign	Het
Tcf7l2	C	A	19: 55,743,480 (GRCm39)	A97E	probably benign	Het
Tenm3	C	T	8: 48,689,474 (GRCm39)	D2038N	probably damaging	Het
Tepsin	G	A	11: 119,986,190 (GRCm39)	T168M	probably damaging	Het
Tex15	A	T	8: 34,047,456 (GRCm39)	M178L	probably benign	Het
Tgfbr2	T	C	9: 115,939,119 (GRCm39)	N236S	probably damaging	Het
Tnrc18	A	G	5: 142,713,744 (GRCm39)	V2531A	probably damaging	Het
Ttn	T	G	2: 76,725,767 (GRCm39)		probably benign	Het
Tubgcp3	G	T	8: 12,687,000 (GRCm39)	D630E	probably damaging	Het
Ubr4	G	A	4: 139,133,839 (GRCm39)	W745*	probably null	Het
Vmn2r115	G	A	17: 23,564,989 (GRCm39)	G292D	probably benign	Het
Vmn2r38	T	A	7: 9,078,340 (GRCm39)	K681*	probably null	Het
Xrcc6	A	G	15: 81,915,375 (GRCm39)	K98E	probably benign	Het
Zfp423	A	G	8: 88,530,407 (GRCm39)	V13A	probably benign	Het
Zmynd8	C	T	2: 165,717,670 (GRCm39)	E14K	probably damaging	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
R4766:Zfp512b	UTSW	2	181,226,888 (GRCm39)	unclassified	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
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'- CTTGGAACAGAGAGGGATTCTG -3'
(R):5'- TACCATGTCAACAAAGGGGAC -3'

Sequencing Primer
(F):5'- GAGCACCTACTACTCTTTGGG -3'
(R):5'- AGGGGACTTCAACCTGGG -3'

Posted On

2018-11-28