Mutagenetix > Incidental Mutation

Incidental Mutation 'R1845:Zfp512b'

207619

Institutional Source

Beutler Lab

Gene Symbol

Zfp512b

Ensembl Gene

ENSMUSG00000000823

Gene Name

zinc finger protein 512B

Synonyms

LOC269401, Znf512b

MMRRC Submission

039870-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1845 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

181223925-181234572 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 181227528 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 776 (C776S)

Ref Sequence

ENSEMBL: ENSMUSP00000115601 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057816] [ENSMUST00000108789] [ENSMUST00000128553] [ENSMUST00000129469] [ENSMUST00000140103] [ENSMUST00000153998] [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 damaging
Transcript: ENSMUST00000108789
AA Change: C766S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000104417
Gene: ENSMUSG00000000823
AA Change: C766S

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: ENSMUST00000126672

Predicted Effect

probably damaging
Transcript: ENSMUST00000128553
AA Change: C776S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000115601
Gene: ENSMUSG00000000823
AA Change: C776S

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 damaging
Transcript: ENSMUST00000140103
AA Change: C34S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000123579
Gene: ENSMUSG00000000823
AA Change: C34S

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

Predicted Effect

unknown
Transcript: ENSMUST00000135561
AA Change: C16S

SMART Domains

Protein: ENSMUSP00000121721
Gene: ENSMUSG00000000823
AA Change: C16S

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150552

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152365

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: ENSMUST00000155947

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183624

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146823

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136759

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148004

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: 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: ENSMUST00000153998

SMART Domains

Protein: ENSMUSP00000123096
Gene: ENSMUSG00000000823

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

Predicted Effect

probably benign
Transcript: ENSMUST00000131949

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.0%
20x: 91.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110038F14Rik	CGGG	CGGGGGG	15: 76,833,863 (GRCm39)		probably benign	Het
Abca17	A	T	17: 24,486,690 (GRCm39)	C1446S	probably damaging	Het
Asb16	C	A	11: 102,167,582 (GRCm39)	A316E	possibly damaging	Het
Axdnd1	C	T	1: 156,204,114 (GRCm39)	V384I	possibly damaging	Het
BC024139	A	T	15: 76,009,461 (GRCm39)	L207*	probably null	Het
Bcl3	T	G	7: 19,543,552 (GRCm39)	S305R	probably damaging	Het
Cachd1	T	C	4: 100,634,555 (GRCm39)	V77A	probably benign	Het
Cd101	C	T	3: 100,936,764 (GRCm39)		probably null	Het
Cela1	T	C	15: 100,583,048 (GRCm39)	N64S	probably benign	Het
Cep128	T	C	12: 91,256,372 (GRCm39)	D366G	probably benign	Het
Col12a1	A	G	9: 79,604,823 (GRCm39)	V675A	probably benign	Het
Copg1	A	G	6: 87,870,800 (GRCm39)	Y201C	probably damaging	Het
Cyp24a1	T	C	2: 170,329,837 (GRCm39)	R372G	probably benign	Het
Dcaf1	A	C	9: 106,729,161 (GRCm39)	I567L	probably benign	Het
Dcn	A	G	10: 97,342,536 (GRCm39)	D164G	probably benign	Het
Dnase2a	T	A	8: 85,635,951 (GRCm39)	H113Q	probably benign	Het
Espl1	T	C	15: 102,207,448 (GRCm39)	V304A	probably benign	Het
Fam193a	A	G	5: 34,600,716 (GRCm39)	D315G	possibly damaging	Het
Fkbp8	T	A	8: 70,983,685 (GRCm39)		probably null	Het
Foxp4	T	A	17: 48,188,884 (GRCm39)	T321S	probably null	Het
Fut10	A	G	8: 31,726,328 (GRCm39)	N361S	probably damaging	Het
Gyg1	A	T	3: 20,205,286 (GRCm39)	V94D	probably damaging	Het
Has2	T	C	15: 56,531,974 (GRCm39)	K247R	probably damaging	Het
Helz2	G	T	2: 180,873,878 (GRCm39)	D2205E	probably benign	Het
Hps6	T	A	19: 45,993,409 (GRCm39)	S449T	probably benign	Het
Ints10	T	C	8: 69,247,323 (GRCm39)	Y64H	probably damaging	Het
Kalrn	T	C	16: 34,177,331 (GRCm39)	H278R	probably damaging	Het
Klhdc8a	T	C	1: 132,231,548 (GRCm39)	V280A	possibly damaging	Het
Klk1b5	A	G	7: 43,869,549 (GRCm39)	M210V	probably benign	Het
Kmt2c	G	A	5: 25,578,434 (GRCm39)	A614V	probably benign	Het
Lck	T	A	4: 129,451,879 (GRCm39)	I45F	probably benign	Het
Lin7a	A	C	10: 107,247,920 (GRCm39)	E75A	probably damaging	Het
Lrp1	A	T	10: 127,414,542 (GRCm39)	C1070S	probably damaging	Het
Mapk8ip3	G	T	17: 25,133,557 (GRCm39)	N289K	probably benign	Het
Mbtps1	T	C	8: 120,249,232 (GRCm39)	D686G	probably benign	Het
Mknk1	T	A	4: 115,730,428 (GRCm39)	C178*	probably null	Het
Mtmr6	A	G	14: 60,534,184 (GRCm39)	N474S	probably damaging	Het
Mvb12b	A	G	2: 33,730,169 (GRCm39)		probably null	Het
Myh6	T	C	14: 55,182,131 (GRCm39)	K1759R	probably damaging	Het
Nfatc1	T	C	18: 80,678,746 (GRCm39)	K881E	possibly damaging	Het
Nlrp10	A	G	7: 108,526,248 (GRCm39)	F30S	probably damaging	Het
Nop14	G	T	5: 34,807,672 (GRCm39)	A430E	possibly damaging	Het
Ntn4	C	T	10: 93,543,215 (GRCm39)	R314W	probably damaging	Het
Or1j18	A	T	2: 36,624,854 (GRCm39)	I174F	probably damaging	Het
Or4c107	A	G	2: 88,789,211 (GRCm39)	I134V	probably damaging	Het
Or4c108	A	G	2: 88,803,482 (GRCm39)	V251A	probably benign	Het
Or6c205	A	G	10: 129,086,463 (GRCm39)	E20G	probably benign	Het
Or6c88	A	T	10: 129,407,217 (GRCm39)	Q231L	probably damaging	Het
Or7g17	A	T	9: 18,768,782 (GRCm39)	Y287F	possibly damaging	Het
Osbpl7	C	A	11: 96,949,954 (GRCm39)	S378R	probably damaging	Het
Otof	A	T	5: 30,529,067 (GRCm39)	Y1775*	probably null	Het
Parp16	T	C	9: 65,122,876 (GRCm39)	S46P	possibly damaging	Het
Pdlim2	C	T	14: 70,402,228 (GRCm39)	R296H	probably damaging	Het
Pi16	A	T	17: 29,538,361 (GRCm39)	Q58L	possibly damaging	Het
Pld3	C	A	7: 27,238,877 (GRCm39)	M190I	probably benign	Het
Plscr4	T	G	9: 92,372,099 (GRCm39)	I290S	probably damaging	Het
Ppip5k2	T	C	1: 97,651,531 (GRCm39)	D928G	possibly damaging	Het
Ppp1r13l	T	A	7: 19,102,536 (GRCm39)	L15Q	probably damaging	Het
Prorp	T	A	12: 55,351,117 (GRCm39)	I142N	possibly damaging	Het
Ptpn14	C	A	1: 189,571,699 (GRCm39)	S263R	possibly damaging	Het
Sema7a	G	A	9: 57,862,182 (GRCm39)	V178I	possibly damaging	Het
Sesn2	A	T	4: 132,224,381 (GRCm39)	Y342*	probably null	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Sltm	A	G	9: 70,450,314 (GRCm39)	N38S	possibly damaging	Het
Smg1	T	C	7: 117,753,845 (GRCm39)		probably benign	Het
Spsb1	A	T	4: 149,991,367 (GRCm39)	V67E	probably damaging	Het
Suox	A	G	10: 128,506,408 (GRCm39)	V540A	possibly damaging	Het
Tbc1d12	T	A	19: 38,899,529 (GRCm39)	I483N	probably damaging	Het
Tbcb	A	T	7: 29,923,924 (GRCm39)	D198E	possibly damaging	Het
Tbce	T	C	13: 14,194,294 (GRCm39)	K122E	probably benign	Het
Tcap	T	A	11: 98,275,205 (GRCm39)	L113H	probably damaging	Het
Thsd7a	A	T	6: 12,321,040 (GRCm39)	I1545N	probably damaging	Het
Tmed10	T	C	12: 85,421,277 (GRCm39)	T55A	possibly damaging	Het
Tmem268	T	A	4: 63,498,180 (GRCm39)	V200D	probably damaging	Het
Tmem45b	A	C	9: 31,342,651 (GRCm39)	I50M	probably damaging	Het
Trp53bp2	T	C	1: 182,286,468 (GRCm39)	W1103R	probably damaging	Het
Ttn	C	T	2: 76,594,377 (GRCm39)	V20524M	probably damaging	Het
Ulk2	A	T	11: 61,703,564 (GRCm39)	N379K	probably benign	Het
Vmn1r59	A	G	7: 5,457,553 (GRCm39)	V69A	probably benign	Het
Vmn2r10	A	T	5: 109,149,861 (GRCm39)	Y394*	probably null	Het
Zfp212	T	C	6: 47,908,475 (GRCm39)	S485P	probably benign	Het
Zfp518b	A	G	5: 38,829,084 (GRCm39)	Y974H	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
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
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'- CAGCAGATTTCTTGGTGTACAC -3'
(R):5'- TCAGTCCCTAAATGCACCATTG -3'

Sequencing Primer
(F):5'- GTACACCGTCTCAGGCACTTG -3'
(R):5'- TGACATACATCCTAGAAGACAGTG -3'

Posted On

2014-06-23