Mutagenetix > Incidental Mutation

Incidental Mutation 'R9653:Zfp532'

727241

Institutional Source

Beutler Lab

Gene Symbol

Zfp532

Ensembl Gene

ENSMUSG00000042439

Gene Name

zinc finger protein 532

Synonyms

C530030I18Rik

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9653 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

65713301-65822514 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 65756308 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 80 (D80E)

Ref Sequence

ENSEMBL: ENSMUSP00000036582 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049016] [ENSMUST00000169679] [ENSMUST00000182140] [ENSMUST00000182319] [ENSMUST00000182478] [ENSMUST00000182655] [ENSMUST00000182684] [ENSMUST00000182852] [ENSMUST00000182973] [ENSMUST00000182979] [ENSMUST00000183236] [ENSMUST00000183319] [ENSMUST00000183326]

AlphaFold

Q6NXK2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000049016
AA Change: D80E

PolyPhen 2 Score 0.835 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000036582
Gene: ENSMUSG00000042439
AA Change: D80E

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

possibly damaging
Transcript: ENSMUST00000169679
AA Change: D80E

PolyPhen 2 Score 0.835 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000129390
Gene: ENSMUSG00000042439
AA Change: D80E

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

possibly damaging
Transcript: ENSMUST00000182140
AA Change: D80E

PolyPhen 2 Score 0.835 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

probably benign
Transcript: ENSMUST00000182319

Predicted Effect

probably damaging
Transcript: ENSMUST00000182478
AA Change: D80E

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

SMART Domains

Protein: ENSMUSP00000138315
Gene: ENSMUSG00000042439
AA Change: D80E

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

possibly damaging
Transcript: ENSMUST00000182655
AA Change: D80E

PolyPhen 2 Score 0.835 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000182684
AA Change: D80E

PolyPhen 2 Score 0.835 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

probably damaging
Transcript: ENSMUST00000182852
AA Change: D80E

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000138663
Gene: ENSMUSG00000042439
AA Change: D80E

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

Predicted Effect

probably benign
Transcript: ENSMUST00000182973

Predicted Effect

possibly damaging
Transcript: ENSMUST00000182979
AA Change: D80E

PolyPhen 2 Score 0.835 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000138225
Gene: ENSMUSG00000042439
AA Change: D80E

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000183236
AA Change: D80E

PolyPhen 2 Score 0.835 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

probably benign
Transcript: ENSMUST00000183319

Predicted Effect

possibly damaging
Transcript: ENSMUST00000183326
AA Change: D80E

PolyPhen 2 Score 0.835 (Sensitivity: 0.84; Specificity: 0.93)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	C	T	11: 9,243,741 (GRCm39)	P1868L	probably benign	Het
Abcc1	T	C	16: 14,214,257 (GRCm39)	Y191H	probably damaging	Het
Adamtsl5	C	T	10: 80,180,763 (GRCm39)	G100R	probably damaging	Het
Adgrg5	C	T	8: 95,663,864 (GRCm39)	P235S		Het
Anks1b	T	G	10: 90,346,524 (GRCm39)	L608R	probably damaging	Het
Ano10	C	G	9: 122,080,221 (GRCm39)	A597P	possibly damaging	Het
Calb2	T	C	8: 110,881,374 (GRCm39)	M58V	probably benign	Het
Ccdc180	T	C	4: 45,923,495 (GRCm39)	I1092T	probably damaging	Het
Ces3b	G	T	8: 105,812,257 (GRCm39)	A169S	probably damaging	Het
Chmp2a	A	T	7: 12,766,456 (GRCm39)	F129I	probably damaging	Het
Clasp2	T	A	9: 113,670,993 (GRCm39)	W365R	probably benign	Het
Col12a1	T	C	9: 79,584,556 (GRCm39)	K1344R	probably benign	Het
Col3a1	A	G	1: 45,360,728 (GRCm39)	I53V	unknown	Het
Coro2b	T	C	9: 62,335,259 (GRCm39)	Y309C	probably damaging	Het
Cramp1	C	A	17: 25,201,783 (GRCm39)	K566N	probably damaging	Het
Crygs	T	A	16: 22,625,304 (GRCm39)	T46S	probably benign	Het
Ctbp2	C	G	7: 132,615,933 (GRCm39)	R334P	probably damaging	Het
Dcstamp	A	T	15: 39,623,792 (GRCm39)	D469V	probably benign	Het
Dhdh	T	C	7: 45,128,551 (GRCm39)	D209G	probably damaging	Het
Dnah7b	T	C	1: 46,252,544 (GRCm39)	V1742A	possibly damaging	Het
Dnaja2	T	C	8: 86,265,982 (GRCm39)	T368A	probably benign	Het
Dscaml1	T	C	9: 45,643,466 (GRCm39)		probably null	Het
Eps8l1	A	T	7: 4,481,886 (GRCm39)	K704M	unknown	Het
Fam186b	G	A	15: 99,177,616 (GRCm39)	A570V	probably damaging	Het
Fgd4	T	A	16: 16,254,461 (GRCm39)	H524L	probably benign	Het
Fktn	T	A	4: 53,731,273 (GRCm39)	F103I	probably benign	Het
Gcc2	T	C	10: 58,110,822 (GRCm39)	M1001T	possibly damaging	Het
Gm4847	T	C	1: 166,467,582 (GRCm39)	S205G	possibly damaging	Het
Grid2	A	T	6: 63,907,968 (GRCm39)	N203Y	possibly damaging	Het
Hif3a	G	A	7: 16,782,641 (GRCm39)	A308V	probably damaging	Het
Htr5a	A	G	5: 28,047,838 (GRCm39)	N131S	possibly damaging	Het
Igfn1	G	A	1: 135,883,323 (GRCm39)	Q2728*	probably null	Het
Ighv5-16	C	A	12: 113,802,313 (GRCm39)	K62N	possibly damaging	Het
Ip6k3	A	T	17: 27,367,588 (GRCm39)	Y203N	possibly damaging	Het
Itga2	G	A	13: 115,020,991 (GRCm39)	P120L	probably benign	Het
Itpkb	G	T	1: 180,160,056 (GRCm39)	E61*	probably null	Het
Kcnj3	G	A	2: 55,484,864 (GRCm39)	V321M	probably damaging	Het
Kmt2c	A	G	5: 25,507,819 (GRCm39)	L3206P	probably damaging	Het
Krtap5-4	T	C	7: 141,857,908 (GRCm39)	C193R	unknown	Het
Large1	G	T	8: 73,564,106 (GRCm39)	H553Q	probably benign	Het
Lrfn5	T	A	12: 61,890,418 (GRCm39)	V569D	probably damaging	Het
Luzp2	A	G	7: 54,702,580 (GRCm39)	T48A	probably damaging	Het
Lypd6	A	T	2: 50,080,758 (GRCm39)	T149S	probably benign	Het
Map3k1	T	C	13: 111,890,296 (GRCm39)	N1301S	possibly damaging	Het
Ndufv2	C	T	17: 66,396,251 (GRCm39)	W91*	probably null	Het
Nisch	A	T	14: 30,893,628 (GRCm39)	V1315E	probably damaging	Het
Npas1	T	C	7: 16,190,146 (GRCm39)	I467V	probably benign	Het
Nucb1	A	G	7: 45,144,202 (GRCm39)	M337T	probably benign	Het
Oog3	T	G	4: 143,884,489 (GRCm39)	R482S	probably benign	Het
Or10d4b	T	C	9: 39,535,154 (GRCm39)	L243P	probably damaging	Het
Or4f14c	A	T	2: 111,941,261 (GRCm39)	M112K	probably damaging	Het
Or51ag1	C	T	7: 103,155,727 (GRCm39)	R142H	probably benign	Het
Or56a42-ps1	A	T	7: 104,775,985 (GRCm39)	N164K	probably benign	Het
Padi2	T	C	4: 140,662,036 (GRCm39)		probably null	Het
Pam	C	T	1: 97,768,469 (GRCm39)	V660M	possibly damaging	Het
Phc2	C	T	4: 128,641,012 (GRCm39)	L700F	probably damaging	Het
Plekha1	T	C	7: 130,479,494 (GRCm39)	V4A	possibly damaging	Het
Rai1	A	G	11: 60,080,142 (GRCm39)	E1402G	probably benign	Het
Recql5	G	A	11: 115,788,032 (GRCm39)	A429V	probably benign	Het
Rere	A	G	4: 150,516,010 (GRCm39)	N101S	probably benign	Het
Robo1	T	G	16: 72,821,330 (GRCm39)	S1357A	possibly damaging	Het
Rsl1	T	A	13: 67,330,106 (GRCm39)	Y185N	probably damaging	Het
Rsph3a	T	C	17: 8,165,074 (GRCm39)	S145P	possibly damaging	Het
Sall1	T	C	8: 89,757,506 (GRCm39)	E866G	probably damaging	Het
Sall3	A	T	18: 81,016,228 (GRCm39)	S567T	probably benign	Het
Sap30	G	A	8: 57,938,156 (GRCm39)	Q154*	probably null	Het
Sbf2	T	C	7: 110,040,702 (GRCm39)	Q375R	possibly damaging	Het
Scn8a	A	G	15: 100,937,947 (GRCm39)	E1772G	probably damaging	Het
Scube3	C	T	17: 28,375,772 (GRCm39)	A169V	probably damaging	Het
Sema6c	T	C	3: 95,080,525 (GRCm39)	S940P	probably benign	Het
Sertad4	C	T	1: 192,528,836 (GRCm39)	D327N	probably damaging	Het
Shisal2b	A	G	13: 105,000,296 (GRCm39)		probably benign	Het
Skp1	A	G	11: 52,134,514 (GRCm39)	T82A	possibly damaging	Het
Slc39a14	G	T	14: 70,547,248 (GRCm39)	T366K	probably damaging	Het
Snrnp200	G	T	2: 127,067,959 (GRCm39)	V819L	probably damaging	Het
Sntg1	T	A	1: 8,433,749 (GRCm39)	T501S	unknown	Het
Srsf12	T	C	4: 33,231,249 (GRCm39)	S253P	possibly damaging	Het
Sycp2l	A	G	13: 41,295,381 (GRCm39)	S315G	probably benign	Het
Tars2	T	C	3: 95,655,379 (GRCm39)	Y337C	probably damaging	Het
Thbs4	T	C	13: 92,898,022 (GRCm39)	D599G	probably benign	Het
Tmem200c	A	G	17: 69,149,181 (GRCm39)	H588R	probably benign	Het
Tmem255b	T	A	8: 13,506,005 (GRCm39)	V204E	probably damaging	Het
Usp24	T	A	4: 106,204,564 (GRCm39)	M261K	probably benign	Het
Utrn	T	A	10: 12,497,123 (GRCm39)	I2429F	probably benign	Het
Utrn	C	T	10: 12,539,189 (GRCm39)	A1943T	probably benign	Het
Vmn2r85	A	T	10: 130,261,694 (GRCm39)	D214E	probably damaging	Het
Wdr81	G	T	11: 75,340,213 (GRCm39)	P183T		Het
Zfp28	G	A	7: 6,395,623 (GRCm39)	R134H		Het
Zfyve26	T	C	12: 79,334,418 (GRCm39)	D200G	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
R7095:Zfp532	UTSW	18	65,815,969 (GRCm39)	missense	probably benign
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
R9739:Zfp532	UTSW	18	65,757,894 (GRCm39)	missense	probably benign	0.30

Predicted Primers

PCR Primer
(F):5'- CCCCAGACTTTGATGACCTC -3'
(R):5'- ATCGTCCTCAAACTCCTCGG -3'

Sequencing Primer
(F):5'- CTTGGCAGCATTTGACATACCAG -3'
(R):5'- TCAAACTCCTCGGCGCTG -3'

Posted On

2022-10-06