Mutagenetix > Incidental Mutation

Incidental Mutation 'R7095:Zfp532'

550457

Institutional Source

Beutler Lab

Gene Symbol

Zfp532

Ensembl Gene

ENSMUSG00000042439

Gene Name

zinc finger protein 532

Synonyms

C530030I18Rik

MMRRC Submission

045243-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.300) question?

Stock #

R7095 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

65713301-65822514 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 65815969 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 781 (M781L)

Ref Sequence

ENSEMBL: ENSMUSP00000036582 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049016] [ENSMUST00000169679] [ENSMUST00000182478] [ENSMUST00000182852]

AlphaFold

Q6NXK2

Predicted Effect

probably benign
Transcript: ENSMUST00000049016
AA Change: M781L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000036582
Gene: ENSMUSG00000042439
AA Change: M781L

Domain	Start	End	E-Value	Type
low complexity region	253	287	N/A	INTRINSIC
low complexity region	336	353	N/A	INTRINSIC
low complexity region	395	417	N/A	INTRINSIC
low complexity region	480	502	N/A	INTRINSIC
low complexity region	547	559	N/A	INTRINSIC
low complexity region	566	580	N/A	INTRINSIC
ZnF_C2H2	615	635	7.18e1	SMART
ZnF_C2H2	643	667	1.23e1	SMART
low complexity region	726	738	N/A	INTRINSIC
ZnF_C2H2	751	772	4.57e0	SMART
ZnF_C2H2	784	807	1.25e-1	SMART
ZnF_C2H2	814	840	1.43e-1	SMART
low complexity region	860	872	N/A	INTRINSIC
ZnF_C2H2	909	931	1.31e0	SMART
ZnF_C2H2	938	961	9.44e-2	SMART
ZnF_C2H2	999	1021	6.88e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000169679
AA Change: M781L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000129390
Gene: ENSMUSG00000042439
AA Change: M781L

Domain	Start	End	E-Value	Type
low complexity region	253	287	N/A	INTRINSIC
low complexity region	336	353	N/A	INTRINSIC
low complexity region	395	417	N/A	INTRINSIC
low complexity region	480	502	N/A	INTRINSIC
low complexity region	547	559	N/A	INTRINSIC
low complexity region	566	580	N/A	INTRINSIC
ZnF_C2H2	615	635	7.18e1	SMART
ZnF_C2H2	643	667	1.23e1	SMART
low complexity region	726	738	N/A	INTRINSIC
ZnF_C2H2	751	772	4.57e0	SMART
ZnF_C2H2	784	807	1.25e-1	SMART
ZnF_C2H2	814	840	1.43e-1	SMART
low complexity region	860	872	N/A	INTRINSIC
ZnF_C2H2	909	931	1.31e0	SMART
ZnF_C2H2	938	961	9.44e-2	SMART
ZnF_C2H2	999	1021	6.88e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000182478
AA Change: K900N

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000138315
Gene: ENSMUSG00000042439
AA Change: K900N

Domain	Start	End	E-Value	Type
low complexity region	253	287	N/A	INTRINSIC
low complexity region	336	353	N/A	INTRINSIC
low complexity region	395	417	N/A	INTRINSIC
low complexity region	480	502	N/A	INTRINSIC
low complexity region	547	559	N/A	INTRINSIC
low complexity region	566	580	N/A	INTRINSIC
ZnF_C2H2	615	635	7.18e1	SMART
ZnF_C2H2	643	667	1.23e1	SMART
low complexity region	726	738	N/A	INTRINSIC
ZnF_C2H2	751	772	4.57e0	SMART
ZnF_C2H2	780	802	4.34e0	SMART
ZnF_C2H2	808	832	1.55e1	SMART
ZnF_C2H2	839	862	8.94e-3	SMART
ZnF_C2H2	867	890	3.78e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000182852
AA Change: M1049L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000138663
Gene: ENSMUSG00000042439
AA Change: M1049L

Domain	Start	End	E-Value	Type
low complexity region	253	287	N/A	INTRINSIC
low complexity region	336	353	N/A	INTRINSIC
low complexity region	395	417	N/A	INTRINSIC
low complexity region	480	502	N/A	INTRINSIC
low complexity region	547	559	N/A	INTRINSIC
low complexity region	566	580	N/A	INTRINSIC
ZnF_C2H2	615	635	7.18e1	SMART
ZnF_C2H2	643	667	1.23e1	SMART
low complexity region	726	738	N/A	INTRINSIC
ZnF_C2H2	751	772	4.57e0	SMART
ZnF_C2H2	780	802	4.34e0	SMART
ZnF_C2H2	808	832	1.55e1	SMART
ZnF_C2H2	839	862	8.94e-3	SMART
ZnF_C2H2	867	890	3.78e-1	SMART
ZnF_C2H2	902	924	7.15e-2	SMART
ZnF_C2H2	933	956	1.43e-1	SMART
ZnF_C2H2	1022	1045	4.72e-2	SMART
ZnF_C2H2	1052	1075	1.25e-1	SMART
ZnF_C2H2	1082	1108	1.43e-1	SMART
low complexity region	1128	1140	N/A	INTRINSIC
ZnF_C2H2	1177	1199	1.31e0	SMART
ZnF_C2H2	1206	1229	9.44e-2	SMART
ZnF_C2H2	1267	1289	6.88e-4	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

99% (71/72)

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf1	A	G	17: 36,268,403 (GRCm39)	V809A	possibly damaging	Het
Adam32	T	A	8: 25,404,086 (GRCm39)	D242V	probably damaging	Het
Adamts9	T	A	6: 92,864,672 (GRCm39)	H763L	probably benign	Het
Aff1	A	G	5: 103,990,951 (GRCm39)	D967G	probably damaging	Het
Anpep	A	T	7: 79,491,950 (GRCm39)	L17Q	possibly damaging	Het
Appbp2	G	T	11: 85,125,553 (GRCm39)	S28*	probably null	Het
Bach1	G	A	16: 87,516,179 (GRCm39)	R240Q	probably benign	Het
Bod1l	A	G	5: 41,952,411 (GRCm39)		probably null	Het
Capn5	G	A	7: 97,775,038 (GRCm39)	T534I	probably benign	Het
Cbx2	T	C	11: 118,918,885 (GRCm39)	I150T	probably damaging	Het
Cdh11	A	G	8: 103,384,899 (GRCm39)	V392A	probably damaging	Het
Cenpf	A	T	1: 189,391,373 (GRCm39)	C803S	probably benign	Het
Cep135	A	G	5: 76,741,905 (GRCm39)	T114A	probably benign	Het
Chd2	A	T	7: 73,121,629 (GRCm39)	D994E	probably damaging	Het
Chtf18	C	A	17: 25,941,652 (GRCm39)	W584C	probably damaging	Het
Dclk2	C	T	3: 86,700,566 (GRCm39)	R638H	probably damaging	Het
Dgkh	C	A	14: 78,865,224 (GRCm39)	M172I	probably benign	Het
Dpy19l2	T	G	9: 24,607,110 (GRCm39)	H117P	probably benign	Het
Dzip3	A	T	16: 48,748,153 (GRCm39)	N908K	probably benign	Het
Erc2	A	T	14: 27,620,550 (GRCm39)	N393Y	probably damaging	Het
Fam118b	T	C	9: 35,132,786 (GRCm39)	E291G	possibly damaging	Het
Fam193a	C	T	5: 34,615,378 (GRCm39)	L816F	probably damaging	Het
Fat2	A	G	11: 55,202,157 (GRCm39)	Y306H	probably damaging	Het
Fndc10	C	T	4: 155,779,574 (GRCm39)	T206I	probably damaging	Het
Fzd1	GGGACTCCTCCACCTCCCTGGA	GGGA	5: 4,805,824 (GRCm39)		probably benign	Het
Gsk3a	A	T	7: 24,933,279 (GRCm39)	Y177N	probably damaging	Het
Haus5	T	C	7: 30,358,997 (GRCm39)	T222A	probably benign	Het
Igfbp7	G	T	5: 77,549,337 (GRCm39)	Q189K	probably benign	Het
Inppl1	A	T	7: 101,476,663 (GRCm39)	Y771*	probably null	Het
Iqck	A	T	7: 118,514,814 (GRCm39)	Y234F	probably damaging	Het
Irs1	G	T	1: 82,267,819 (GRCm39)	C132*	probably null	Het
Jmjd1c	T	G	10: 67,055,411 (GRCm39)	V277G	probably benign	Het
Klhl22	G	A	16: 17,610,614 (GRCm39)	V622M	probably damaging	Het
Kri1	C	T	9: 21,190,728 (GRCm39)	E378K		Het
Lilra6	C	T	7: 3,916,196 (GRCm39)	G221D	probably damaging	Het
Mecom	T	C	3: 30,035,103 (GRCm39)	E191G	probably damaging	Het
Mgrn1	T	A	16: 4,745,528 (GRCm39)		probably null	Het
Mical1	C	T	10: 41,355,206 (GRCm39)		probably null	Het
Mlxipl	T	C	5: 135,162,884 (GRCm39)	Y711H	possibly damaging	Het
Mpl	T	A	4: 118,301,260 (GRCm39)	H535L		Het
Mtarc1	A	G	1: 184,527,437 (GRCm39)	L297P	probably damaging	Het
Mtfr2	C	A	10: 20,228,666 (GRCm39)	H71N	probably benign	Het
Mtrf1	GCCTTC	GC	14: 79,660,931 (GRCm39)		probably null	Het
Myh15	A	G	16: 48,992,272 (GRCm39)	Q1582R	possibly damaging	Het
Neb	C	T	2: 52,067,635 (GRCm39)	E6062K	possibly damaging	Het
Nlrp4c	G	A	7: 6,063,792 (GRCm39)	A67T	probably damaging	Het
Noc3l	T	A	19: 38,800,789 (GRCm39)	H231L	probably benign	Het
Odf1	T	C	15: 38,219,803 (GRCm39)	Y44H	possibly damaging	Het
Or52e2	G	A	7: 102,804,537 (GRCm39)	T139I	probably damaging	Het
Or52s1b	C	T	7: 102,822,253 (GRCm39)	R197H	probably benign	Het
Or5j3	C	T	2: 86,129,021 (GRCm39)	P287L	probably benign	Het
Otol1	G	T	3: 69,926,027 (GRCm39)	E67D	probably benign	Het
Otud7b	A	G	3: 96,062,554 (GRCm39)	S598G	probably benign	Het
Ppwd1	T	A	13: 104,342,134 (GRCm39)	T607S	probably benign	Het
Prag1	A	G	8: 36,569,714 (GRCm39)	N99S	probably benign	Het
Ralgds	C	A	2: 28,439,320 (GRCm39)	Q737K	possibly damaging	Het
Scyl2	T	C	10: 89,505,549 (GRCm39)	H98R	probably damaging	Het
Secisbp2	A	C	13: 51,831,290 (GRCm39)	Q575H	probably benign	Het
Slc9a5	A	T	8: 106,084,268 (GRCm39)	H497L	probably benign	Het
Sufu	T	A	19: 46,464,027 (GRCm39)	V414E	probably damaging	Het
Tbc1d22b	A	T	17: 29,818,843 (GRCm39)	E399V	probably damaging	Het
Tcp10c	G	A	17: 13,576,196 (GRCm39)	V59I	probably benign	Het
Tdpoz3	T	C	3: 93,734,368 (GRCm39)	S348P	probably benign	Het
Tmem219	A	T	7: 126,490,928 (GRCm39)	F176L	probably damaging	Het
Trav6-2	A	G	14: 52,905,291 (GRCm39)	D104G	probably damaging	Het
Uba7	A	G	9: 107,860,538 (GRCm39)	K927R	probably benign	Het
Vps54	T	G	11: 21,221,720 (GRCm39)	D158E	probably benign	Het
Xpnpep1	C	T	19: 53,000,196 (GRCm39)		probably null	Het
Xpo7	G	A	14: 70,942,146 (GRCm39)	R73W	probably damaging	Het
Zfp930	T	A	8: 69,681,193 (GRCm39)	I295K	probably benign	Het

Other mutations in Zfp532

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02341:Zfp532	APN	18	65,757,849 (GRCm39)	missense	probably damaging	1.00
IGL02451:Zfp532	APN	18	65,756,672 (GRCm39)	missense	probably damaging	0.96
IGL02496:Zfp532	APN	18	65,757,113 (GRCm39)	missense	probably damaging	1.00
PIT4151001:Zfp532	UTSW	18	65,757,485 (GRCm39)	missense	probably damaging	1.00
R0048:Zfp532	UTSW	18	65,777,404 (GRCm39)	missense	probably damaging	1.00
R0076:Zfp532	UTSW	18	65,818,698 (GRCm39)	missense	probably benign	0.07
R0095:Zfp532	UTSW	18	65,757,855 (GRCm39)	missense	probably damaging	1.00
R0239:Zfp532	UTSW	18	65,816,056 (GRCm39)	missense	possibly damaging	0.63
R0239:Zfp532	UTSW	18	65,816,056 (GRCm39)	missense	possibly damaging	0.63
R0539:Zfp532	UTSW	18	65,756,837 (GRCm39)	missense	probably benign	0.04
R0948:Zfp532	UTSW	18	65,756,889 (GRCm39)	missense	probably damaging	1.00
R1447:Zfp532	UTSW	18	65,758,061 (GRCm39)	missense	probably damaging	1.00
R1645:Zfp532	UTSW	18	65,820,335 (GRCm39)	missense	probably benign	0.26
R1749:Zfp532	UTSW	18	65,756,555 (GRCm39)	missense	possibly damaging	0.83
R1797:Zfp532	UTSW	18	65,758,215 (GRCm39)	missense	probably benign	0.04
R1934:Zfp532	UTSW	18	65,818,682 (GRCm39)	missense	probably damaging	0.97
R1959:Zfp532	UTSW	18	65,757,563 (GRCm39)	missense	probably damaging	0.99
R2153:Zfp532	UTSW	18	65,757,998 (GRCm39)	missense	possibly damaging	0.93
R2280:Zfp532	UTSW	18	65,757,783 (GRCm39)	missense	probably damaging	0.96
R2281:Zfp532	UTSW	18	65,757,783 (GRCm39)	missense	probably damaging	0.96
R2847:Zfp532	UTSW	18	65,789,697 (GRCm39)	missense	possibly damaging	0.79
R2848:Zfp532	UTSW	18	65,789,697 (GRCm39)	missense	possibly damaging	0.79
R4483:Zfp532	UTSW	18	65,789,636 (GRCm39)	missense	probably benign	0.02
R4938:Zfp532	UTSW	18	65,756,837 (GRCm39)	missense	probably benign
R4947:Zfp532	UTSW	18	65,758,137 (GRCm39)	missense	possibly damaging	0.46
R5714:Zfp532	UTSW	18	65,756,606 (GRCm39)	missense	possibly damaging	0.93
R5920:Zfp532	UTSW	18	65,777,421 (GRCm39)	missense	probably benign
R6035:Zfp532	UTSW	18	65,757,005 (GRCm39)	missense	possibly damaging	0.95
R6035:Zfp532	UTSW	18	65,757,005 (GRCm39)	missense	possibly damaging	0.95
R6092:Zfp532	UTSW	18	65,777,281 (GRCm39)	missense	probably damaging	1.00
R6170:Zfp532	UTSW	18	65,757,509 (GRCm39)	missense	probably damaging	0.97
R6180:Zfp532	UTSW	18	65,789,542 (GRCm39)	missense	probably benign
R6889:Zfp532	UTSW	18	65,820,061 (GRCm39)	missense	possibly damaging	0.66
R7039:Zfp532	UTSW	18	65,771,834 (GRCm39)	missense	probably benign	0.44
R7313:Zfp532	UTSW	18	65,756,076 (GRCm39)	missense	probably damaging	1.00
R7400:Zfp532	UTSW	18	65,771,984 (GRCm39)	missense	possibly damaging	0.52
R7882:Zfp532	UTSW	18	65,756,561 (GRCm39)	missense	probably benign
R8026:Zfp532	UTSW	18	65,758,227 (GRCm39)	missense	possibly damaging	0.66
R8444:Zfp532	UTSW	18	65,757,330 (GRCm39)	missense	possibly damaging	0.85
R8477:Zfp532	UTSW	18	65,757,137 (GRCm39)	missense	probably damaging	1.00
R8544:Zfp532	UTSW	18	65,758,227 (GRCm39)	missense	possibly damaging	0.84
R8890:Zfp532	UTSW	18	65,757,404 (GRCm39)	missense	probably damaging	1.00
R8920:Zfp532	UTSW	18	65,820,390 (GRCm39)	missense	probably benign	0.17
R9334:Zfp532	UTSW	18	65,756,128 (GRCm39)	missense	probably damaging	1.00
R9421:Zfp532	UTSW	18	65,757,308 (GRCm39)	missense	probably benign	0.04
R9439:Zfp532	UTSW	18	65,818,714 (GRCm39)	missense	probably benign	0.00
R9472:Zfp532	UTSW	18	65,756,624 (GRCm39)	nonsense	probably null
R9477:Zfp532	UTSW	18	65,777,428 (GRCm39)	missense	probably benign	0.01
R9616:Zfp532	UTSW	18	65,789,639 (GRCm39)	missense	probably benign	0.35
R9653:Zfp532	UTSW	18	65,756,308 (GRCm39)	missense	possibly damaging	0.83
R9739:Zfp532	UTSW	18	65,757,894 (GRCm39)	missense	probably benign	0.30

Predicted Primers

PCR Primer
(F):5'- CCATGGTCAGCATTGATAACC -3'
(R):5'- GAAGCTTTCTGGGTCGCAATC -3'

Sequencing Primer
(F):5'- ATATGTCATGTGATCCAGGCCCAG -3'
(R):5'- GGGTCGCAATCCCTTCTG -3'

Posted On

2019-05-15