Mutagenetix > Incidental Mutation

Incidental Mutation 'R9010:Zfp512b'

685550

Institutional Source

Beutler Lab

Gene Symbol

Zfp512b

Ensembl Gene

ENSMUSG00000000823

Gene Name

zinc finger protein 512B

Synonyms

LOC269401, Znf512b

MMRRC Submission

068840-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9010 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

181223925-181234572 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 181230011 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 552 (A552V)

Ref Sequence

ENSEMBL: ENSMUSP00000115601 (fasta)

Gene Model

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

AlphaFold

Q6PHP4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108789
AA Change: A542V

PolyPhen 2 Score 0.580 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000104417
Gene: ENSMUSG00000000823
AA Change: A542V

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: A552V

PolyPhen 2 Score 0.587 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000115601
Gene: ENSMUSG00000000823
AA Change: A552V

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

SMART Domains

Protein: ENSMUSP00000119677
Gene: ENSMUSG00000000823
AA Change: A100V

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

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: 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: 99.5%
20x: 98.1%

Validation Efficiency

100% (71/71)

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310003L06Rik	T	A	5: 88,119,504 (GRCm39)	M87K	possibly damaging	Het
Angel1	T	C	12: 86,770,153 (GRCm39)	S36G	possibly damaging	Het
Apol6	A	G	15: 76,935,697 (GRCm39)	H322R	unknown	Het
Arfgef2	G	A	2: 166,701,284 (GRCm39)	R694Q	probably damaging	Het
Bank1	A	T	3: 135,761,559 (GRCm39)	N748K	probably benign	Het
Bptf	A	T	11: 106,964,576 (GRCm39)	D1539E	probably damaging	Het
Bst1	T	C	5: 43,982,695 (GRCm39)	I180T	possibly damaging	Het
Cabin1	C	A	10: 75,570,892 (GRCm39)	E795*	probably null	Het
Ccdc168	A	G	1: 44,100,633 (GRCm39)	V155A	possibly damaging	Het
Cckar	T	A	5: 53,857,163 (GRCm39)	T416S	probably damaging	Het
Ccng2	G	T	5: 93,416,616 (GRCm39)	E46*	probably null	Het
Ceacam9	T	C	7: 16,455,916 (GRCm39)	S8P	probably benign	Het
Cercam	G	A	2: 29,766,071 (GRCm39)	D317N	possibly damaging	Het
Cfap54	T	A	10: 92,734,921 (GRCm39)	M2377L	unknown	Het
Cgnl1	A	T	9: 71,558,631 (GRCm39)	L914H	probably damaging	Het
Chst13	G	A	6: 90,286,506 (GRCm39)	P152L	probably damaging	Het
Clec2g	T	A	6: 128,925,688 (GRCm39)	F32L	unknown	Het
Cntnap5c	A	T	17: 58,671,159 (GRCm39)	M1116L	probably benign	Het
Col11a2	C	A	17: 34,283,760 (GRCm39)	F1516L	unknown	Het
Crb2	A	G	2: 37,680,698 (GRCm39)	E542G	probably benign	Het
Crisp1	A	T	17: 40,616,101 (GRCm39)		probably benign	Het
Crybg3	G	A	16: 59,374,702 (GRCm39)	T470M	probably damaging	Het
Dusp9	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	X: 72,684,217 (GRCm39)		probably benign	Het
Eif1ad	T	A	19: 5,418,726 (GRCm39)	V93D	possibly damaging	Het
Entpd3	T	C	9: 120,384,825 (GRCm39)	I134T	probably benign	Het
Garre1	A	T	7: 33,938,491 (GRCm39)	C1015S	probably benign	Het
Gm19410	A	G	8: 36,282,011 (GRCm39)	M1865V	probably benign	Het
Gpat2	A	G	2: 127,277,146 (GRCm39)	E728G	probably benign	Het
Heatr5b	C	A	17: 79,081,139 (GRCm39)	S1371I	probably damaging	Het
Ighv1-4	A	T	12: 114,450,949 (GRCm39)	M53K	possibly damaging	Het
Itch	A	T	2: 155,020,991 (GRCm39)	T169S	probably benign	Het
Kifc2	A	G	15: 76,550,885 (GRCm39)	N587S	possibly damaging	Het
Klk1b16	A	T	7: 43,790,177 (GRCm39)	D149V	probably benign	Het
Kndc1	C	T	7: 139,507,708 (GRCm39)	S1222F	possibly damaging	Het
Lefty2	T	A	1: 180,722,172 (GRCm39)	I170N	probably damaging	Het
Lrrc14b	A	G	13: 74,509,151 (GRCm39)	F419L	possibly damaging	Het
Mkrn2	T	A	6: 115,591,583 (GRCm39)	V302E	possibly damaging	Het
Msh4	T	C	3: 153,595,819 (GRCm39)	K271R	probably benign	Het
Muc6	T	C	7: 141,226,351 (GRCm39)	T1559A	unknown	Het
Naa16	T	G	14: 79,607,482 (GRCm39)	R289S	probably benign	Het
Nab1	T	A	1: 52,529,610 (GRCm39)	I96F	possibly damaging	Het
Ntn4	T	C	10: 93,480,506 (GRCm39)	C77R		Het
Nusap1	A	G	2: 119,479,456 (GRCm39)	T424A	possibly damaging	Het
Or1p1	G	T	11: 74,180,305 (GRCm39)	V278F	probably damaging	Het
Or2w6	A	G	13: 21,842,681 (GRCm39)	Y271H	probably damaging	Het
Or4e2	T	A	14: 52,688,556 (GRCm39)	S229T	possibly damaging	Het
Otog	A	G	7: 45,949,894 (GRCm39)	D267G	probably benign	Het
P2ry2	A	C	7: 100,647,358 (GRCm39)	F316V	probably benign	Het
Padi2	A	G	4: 140,663,924 (GRCm39)	T426A	probably damaging	Het
Pakap	A	T	4: 57,883,192 (GRCm39)	D845V	probably damaging	Het
Plxna2	T	C	1: 194,471,217 (GRCm39)	F996S	possibly damaging	Het
Ppp4r3a	T	C	12: 101,024,591 (GRCm39)	M303V	possibly damaging	Het
Prelid2	A	T	18: 42,065,781 (GRCm39)	W85R	probably damaging	Het
Rabep1	G	A	11: 70,810,034 (GRCm39)	R532H	probably damaging	Het
Rabgap1l	G	A	1: 160,528,443 (GRCm39)	R388W	possibly damaging	Het
Rad51ap2	G	T	12: 11,508,675 (GRCm39)	V866L	probably benign	Het
Rassf3	C	A	10: 121,311,991 (GRCm39)	E9*	probably null	Het
Rbbp4	A	C	4: 129,216,180 (GRCm39)	L189R	probably benign	Het
Rims2	T	A	15: 39,315,786 (GRCm39)	C597*	probably null	Het
Rrp12	T	A	19: 41,871,929 (GRCm39)	I452F	probably benign	Het
Snx29	G	A	16: 11,449,391 (GRCm39)	A279T	probably benign	Het
Tdh	C	T	14: 63,737,704 (GRCm39)	S17N	probably benign	Het
Tgm5	T	C	2: 120,879,371 (GRCm39)	D555G	possibly damaging	Het
Thbs1	A	C	2: 117,953,045 (GRCm39)	D885A	probably damaging	Het
Tmprss9	C	A	10: 80,733,701 (GRCm39)	A921E	unknown	Het
Trrap	T	A	5: 144,783,226 (GRCm39)	F3340I	probably damaging	Het
Vmn1r72	A	T	7: 11,404,145 (GRCm39)	M101K	possibly damaging	Het
Vmn2r117	A	G	17: 23,679,445 (GRCm39)	L593P	probably benign	Het
Washc2	G	A	6: 116,198,823 (GRCm39)	G295E	probably damaging	Het
Zfp273	A	T	13: 67,974,177 (GRCm39)	H435L	probably damaging	Het
Zfp395	A	G	14: 65,623,948 (GRCm39)	E139G	possibly 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
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

Predicted Primers

PCR Primer
(F):5'- CTTCAGCACCTTTCGAAGCC -3'
(R):5'- GGAAGTATGTCACAAGGTAAGCCTC -3'

Sequencing Primer
(F):5'- AGCACCTTTCGAAGCCTCTCC -3'
(R):5'- ATGTCACAAGGTAAGCCTCCTGTC -3'

Posted On

2021-10-11