Mutagenetix > Incidental Mutation

Incidental Mutation 'R1595:Zfp512b'

175709

Institutional Source

Beutler Lab

Gene Symbol

Zfp512b

Ensembl Gene

ENSMUSG00000000823

Gene Name

zinc finger protein 512B

Synonyms

LOC269401, Znf512b

MMRRC Submission

039632-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1595 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

181223925-181234572 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 181230229 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 499 (T499I)

Ref Sequence

ENSEMBL: ENSMUSP00000104417 (fasta)

Gene Model

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

AlphaFold

Q6PHP4

Predicted Effect

probably damaging
Transcript: ENSMUST00000108789
AA Change: T499I

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

SMART Domains

Protein: ENSMUSP00000104417
Gene: ENSMUSG00000000823
AA Change: T499I

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

probably damaging
Transcript: ENSMUST00000128553
AA Change: T509I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000115601
Gene: ENSMUSG00000000823
AA Change: T509I

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

noncoding transcript
Transcript: ENSMUST00000131866

Predicted Effect

unknown
Transcript: ENSMUST00000132538
AA Change: T57I

SMART Domains

Protein: ENSMUSP00000119677
Gene: ENSMUSG00000000823
AA Change: T57I

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

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: ENSMUST00000183624

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152365

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136759

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155947

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150552

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: 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: 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

Meta Mutation Damage Score

0.3754

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 92.1%

Validation Efficiency

97% (77/79)

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb6	C	T	1: 75,153,944 (GRCm39)		probably null	Het
Abcc10	G	T	17: 46,633,164 (GRCm39)	P556H	probably damaging	Het
Abcc9	A	T	6: 142,578,821 (GRCm39)	D914E	probably benign	Het
Adgrf4	A	G	17: 42,978,764 (GRCm39)	V193A	probably benign	Het
Adm	A	T	7: 110,228,298 (GRCm39)	T160S	probably damaging	Het
Ammecr1l	T	C	18: 31,905,173 (GRCm39)		probably null	Het
Angpt2	T	C	8: 18,748,129 (GRCm39)	D377G	probably damaging	Het
Ankfn1	A	G	11: 89,313,593 (GRCm39)		probably null	Het
Arhgap30	T	G	1: 171,235,909 (GRCm39)	M761R	probably benign	Het
Asb4	T	G	6: 5,390,692 (GRCm39)	N28K	probably damaging	Het
Cd177	A	T	7: 24,444,389 (GRCm39)	D696E	probably benign	Het
Cd200	G	A	16: 45,215,214 (GRCm39)	T123I	probably benign	Het
Cfap70	A	G	14: 20,497,604 (GRCm39)	V50A	probably benign	Het
Chaf1b	T	C	16: 93,701,987 (GRCm39)		probably null	Het
Chgb	A	C	2: 132,635,657 (GRCm39)	D533A	probably benign	Het
Col12a1	A	G	9: 79,509,536 (GRCm39)	Y3041H	probably damaging	Het
Crot	T	C	5: 9,024,186 (GRCm39)	N337D	probably benign	Het
Csad	G	A	15: 102,086,217 (GRCm39)	A51V	probably damaging	Het
Cstdc7	T	C	18: 42,306,454 (GRCm39)	M7T	probably benign	Het
Cyp2b9	A	G	7: 25,900,332 (GRCm39)	Y380C	possibly damaging	Het
Dpysl2	G	T	14: 67,052,952 (GRCm39)	A299E	probably damaging	Het
Efcc1	A	G	6: 87,708,440 (GRCm39)	E189G	probably damaging	Het
Egfr	T	C	11: 16,856,847 (GRCm39)	I940T	probably damaging	Het
Etnk2	T	G	1: 133,300,917 (GRCm39)	L228R	possibly damaging	Het
Fitm2	A	G	2: 163,311,610 (GRCm39)	I201T	probably benign	Het
Foxo1	A	T	3: 52,253,375 (GRCm39)	M513L	probably benign	Het
Galnt16	A	T	12: 80,637,410 (GRCm39)	K379I	probably damaging	Het
Gm57858	C	T	3: 36,073,146 (GRCm39)	A379T	probably damaging	Het
Gtf2a1	T	A	12: 91,556,323 (GRCm39)	N6Y	probably damaging	Het
Kcnc1	G	A	7: 46,077,010 (GRCm39)	V271M	probably benign	Het
Klhdc8b	T	A	9: 108,328,362 (GRCm39)	D30V	probably damaging	Het
Lrrc7	G	A	3: 157,882,914 (GRCm39)	Q448*	probably null	Het
Med29	T	C	7: 28,091,928 (GRCm39)	D54G	probably damaging	Het
Mfn2	T	C	4: 147,979,153 (GRCm39)	T60A	probably benign	Het
Mroh1	T	C	15: 76,317,730 (GRCm39)		probably benign	Het
Mxd1	A	T	6: 86,628,453 (GRCm39)	V149E	possibly damaging	Het
Naip6	A	T	13: 100,435,602 (GRCm39)	Y974N	probably damaging	Het
Ndn	C	T	7: 61,998,256 (GRCm39)	P34L	probably benign	Het
Nhsl1	G	T	10: 18,402,096 (GRCm39)	K1107N	probably damaging	Het
Nlrc3	T	C	16: 3,783,166 (GRCm39)	E81G	probably benign	Het
Or10al3	G	T	17: 38,012,004 (GRCm39)	A148S	probably benign	Het
Or9e1	G	T	11: 58,732,478 (GRCm39)	M179I	probably benign	Het
Osbpl5	C	T	7: 143,256,955 (GRCm39)	V392M	possibly damaging	Het
Pcdhb22	T	A	18: 37,653,506 (GRCm39)	V401E	probably damaging	Het
Pcm1	T	A	8: 41,762,672 (GRCm39)	H1444Q	probably damaging	Het
Pdlim2	A	G	14: 70,402,193 (GRCm39)	Y308H	probably damaging	Het
Phf14	T	G	6: 11,988,752 (GRCm39)	L664R	possibly damaging	Het
Phkb	T	C	8: 86,753,182 (GRCm39)		probably benign	Het
Ptchd3	T	A	11: 121,721,420 (GRCm39)	F98I	probably damaging	Het
Ptprt	C	T	2: 161,652,469 (GRCm39)		probably null	Het
Rbp3	A	T	14: 33,678,155 (GRCm39)	H701L	possibly damaging	Het
Rgl1	T	C	1: 152,550,774 (GRCm39)		probably benign	Het
Satb1	A	T	17: 52,089,729 (GRCm39)	S373T	possibly damaging	Het
Scn3a	T	A	2: 65,329,323 (GRCm39)	Y769F	probably damaging	Het
Senp7	A	G	16: 56,005,131 (GRCm39)	I922V	probably damaging	Het
Serpina3g	A	G	12: 104,205,531 (GRCm39)	E90G	probably benign	Het
Sh3rf2	C	T	18: 42,244,353 (GRCm39)	T273I	probably damaging	Het
Slc15a3	A	G	19: 10,831,675 (GRCm39)	T350A	probably benign	Het
Socs5	T	C	17: 87,441,623 (GRCm39)	C188R	probably damaging	Het
Tacr1	A	G	6: 82,380,723 (GRCm39)	T45A	probably benign	Het
Th	A	G	7: 142,450,745 (GRCm39)	V117A	probably benign	Het
Thpo	C	A	16: 20,547,206 (GRCm39)	D81Y	probably damaging	Het
Tmem229b-ps	A	G	10: 53,351,385 (GRCm39)		noncoding transcript	Het
Trpc4	A	G	3: 54,223,236 (GRCm39)	E724G	probably benign	Het
Ttn	T	C	2: 76,576,977 (GRCm39)	T24639A	probably damaging	Het
Ulk4	A	G	9: 120,873,904 (GRCm39)	S1176P	probably damaging	Het
Urgcp	T	C	11: 5,667,447 (GRCm39)	D297G	probably damaging	Het
Vmn1r168	G	A	7: 23,240,620 (GRCm39)	G159D	probably damaging	Het
Vmn1r67	A	T	7: 10,181,597 (GRCm39)	N226I	probably benign	Het
Vmn2r27	T	C	6: 124,208,574 (GRCm39)	E57G	probably benign	Het
Zdhhc14	G	T	17: 5,543,831 (GRCm39)	R37L	probably benign	Het
Zmym2	A	T	14: 57,158,187 (GRCm39)	K575N	probably benign	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
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
R9010:Zfp512b	UTSW	2	181,230,011 (GRCm39)	missense	possibly damaging	0.59

Predicted Primers

PCR Primer
(F):5'- GCAGCATACCTTGGCACTGTGTTC -3'
(R):5'- AGTTCATCGCTCCAAGAAGCAAGAG -3'

Sequencing Primer
(F):5'- CCAGCCTTGGACTTGAATTG -3'
(R):5'- CTGTCACTGTCAGCAAGGAG -3'

Posted On

2014-04-24