Mutagenetix > Incidental Mutation

Incidental Mutation 'R4483:Zfp532'

331513

Institutional Source

Beutler Lab

Gene Symbol

Zfp532

Ensembl Gene

ENSMUSG00000042439

Gene Name

zinc finger protein 532

Synonyms

C530030I18Rik

MMRRC Submission

041739-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.227) question?

Stock #

R4483 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

65580230-65689443 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 65656565 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Leucine at position 1025 (W1025L)

Ref Sequence

ENSEMBL: ENSMUSP00000138663 (fasta)

Gene Model

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

AlphaFold

Q6NXK2

Predicted Effect

probably benign
Transcript: ENSMUST00000049016

SMART Domains

Protein: ENSMUSP00000036582
Gene: ENSMUSG00000042439

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

SMART Domains

Protein: ENSMUSP00000129390
Gene: ENSMUSG00000042439

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

SMART Domains

Protein: ENSMUSP00000138315
Gene: ENSMUSG00000042439

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: W1025L

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000138663
Gene: ENSMUSG00000042439
AA Change: W1025L

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

noncoding transcript
Transcript: ENSMUST00000183184

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183303

Meta Mutation Damage Score

0.0749

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

97% (36/37)

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	C	T	13: 81,419,230	G5275S	probably benign	Het
Akap11	A	G	14: 78,510,259	S1563P	probably damaging	Het
Ankrd50	A	G	3: 38,457,531	V229A	probably damaging	Het
AW112010	A	G	19: 11,050,393		noncoding transcript	Het
Ccdc158	A	G	5: 92,633,328	S873P	probably benign	Het
Cep350	A	G	1: 155,926,468	V1104A	probably benign	Het
Chil4	G	A	3: 106,214,362	A57V	probably damaging	Het
Cpa5	A	G	6: 30,624,626	E155G	probably damaging	Het
Ctsq	T	C	13: 61,038,912	I93V	probably benign	Het
Dbi	A	T	1: 120,120,805	I37K	probably benign	Het
Defa35	T	C	8: 21,065,192	S43P	probably damaging	Het
Fance	T	A	17: 28,315,807		probably benign	Het
Fbxl6	A	G	15: 76,537,929	L180P	probably damaging	Het
Fkbpl	T	C	17: 34,646,295	F346L	probably damaging	Het
Gm11735	C	A	11: 116,741,275		noncoding transcript	Het
Gm28042	T	C	2: 120,035,840	I373T	possibly damaging	Het
Golga4	T	C	9: 118,514,186	S27P	probably damaging	Het
Gstm1	C	T	3: 108,016,518		probably null	Het
Lama3	T	A	18: 12,549,253	I1092K	probably benign	Het
Med15	A	T	16: 17,671,564		probably benign	Het
Nlrp6	A	G	7: 140,921,781	D87G	probably damaging	Het
Parp11	A	G	6: 127,471,605	T62A	probably benign	Het
Pcnt	A	G	10: 76,401,483	L1323S	probably damaging	Het
Ppp2r1a	C	T	17: 20,955,810	T98I	probably benign	Het
Pramef6	T	A	4: 143,895,840	Y315F	probably damaging	Het
Prl7a2	T	A	13: 27,660,947	H152L	possibly damaging	Het
Rnf145	T	C	11: 44,564,277	S662P	probably benign	Het
Rpl31-ps17	C	T	12: 54,701,612		noncoding transcript	Het
Tnfaip3	A	T	10: 19,011,627	M50K	probably damaging	Het
Txlnb	T	TTA	10: 17,838,997		probably null	Het
Usp9x	A	G	X: 13,121,448	D638G	possibly damaging	Het
Vmn1r30	A	T	6: 58,435,133	V238E	probably damaging	Het
Zfp507	A	G	7: 35,787,716		probably null	Het

Other mutations in Zfp532

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02341:Zfp532	APN	18	65624778	missense	probably damaging	1.00
IGL02451:Zfp532	APN	18	65623601	missense	probably damaging	0.96
IGL02496:Zfp532	APN	18	65624042	missense	probably damaging	1.00
PIT4151001:Zfp532	UTSW	18	65624414	missense	probably damaging	1.00
R0048:Zfp532	UTSW	18	65644333	missense	probably damaging	1.00
R0076:Zfp532	UTSW	18	65685627	missense	probably benign	0.07
R0095:Zfp532	UTSW	18	65624784	missense	probably damaging	1.00
R0239:Zfp532	UTSW	18	65682985	missense	possibly damaging	0.63
R0239:Zfp532	UTSW	18	65682985	missense	possibly damaging	0.63
R0539:Zfp532	UTSW	18	65623766	missense	probably benign	0.04
R0948:Zfp532	UTSW	18	65623818	missense	probably damaging	1.00
R1447:Zfp532	UTSW	18	65624990	missense	probably damaging	1.00
R1645:Zfp532	UTSW	18	65687264	missense	probably benign	0.26
R1749:Zfp532	UTSW	18	65623484	missense	possibly damaging	0.83
R1797:Zfp532	UTSW	18	65625144	missense	probably benign	0.04
R1934:Zfp532	UTSW	18	65685611	missense	probably damaging	0.97
R1959:Zfp532	UTSW	18	65624492	missense	probably damaging	0.99
R2153:Zfp532	UTSW	18	65624927	missense	possibly damaging	0.93
R2280:Zfp532	UTSW	18	65624712	missense	probably damaging	0.96
R2281:Zfp532	UTSW	18	65624712	missense	probably damaging	0.96
R2847:Zfp532	UTSW	18	65656626	missense	possibly damaging	0.79
R2848:Zfp532	UTSW	18	65656626	missense	possibly damaging	0.79
R4938:Zfp532	UTSW	18	65623766	missense	probably benign
R4947:Zfp532	UTSW	18	65625066	missense	possibly damaging	0.46
R5714:Zfp532	UTSW	18	65623535	missense	possibly damaging	0.93
R5920:Zfp532	UTSW	18	65644350	missense	probably benign
R6035:Zfp532	UTSW	18	65623934	missense	possibly damaging	0.95
R6035:Zfp532	UTSW	18	65623934	missense	possibly damaging	0.95
R6092:Zfp532	UTSW	18	65644210	missense	probably damaging	1.00
R6170:Zfp532	UTSW	18	65624438	missense	probably damaging	0.97
R6180:Zfp532	UTSW	18	65656471	missense	probably benign
R6889:Zfp532	UTSW	18	65686990	missense	possibly damaging	0.66
R7039:Zfp532	UTSW	18	65638763	missense	probably benign	0.44
R7095:Zfp532	UTSW	18	65682898	missense	probably benign
R7313:Zfp532	UTSW	18	65623005	missense	probably damaging	1.00
R7400:Zfp532	UTSW	18	65638913	missense	possibly damaging	0.52
R7882:Zfp532	UTSW	18	65623490	missense	probably benign
R8026:Zfp532	UTSW	18	65625156	missense	possibly damaging	0.66
R8444:Zfp532	UTSW	18	65624259	missense	possibly damaging	0.85
R8477:Zfp532	UTSW	18	65624066	missense	probably damaging	1.00
R8544:Zfp532	UTSW	18	65625156	missense	possibly damaging	0.84
R8890:Zfp532	UTSW	18	65624333	missense	probably damaging	1.00
R8920:Zfp532	UTSW	18	65687319	missense	probably benign	0.17
R9334:Zfp532	UTSW	18	65623057	missense	probably damaging	1.00
R9421:Zfp532	UTSW	18	65624237	missense	probably benign	0.04
R9439:Zfp532	UTSW	18	65685643	missense	probably benign	0.00
R9472:Zfp532	UTSW	18	65623553	nonsense	probably null
R9477:Zfp532	UTSW	18	65644357	missense	probably benign	0.01
R9616:Zfp532	UTSW	18	65656568	missense	probably benign	0.35
R9653:Zfp532	UTSW	18	65623237	missense	possibly damaging	0.83
R9739:Zfp532	UTSW	18	65624823	missense	probably benign	0.30

Predicted Primers

PCR Primer
(F):5'- CCAAACTTGGGTATAAACTTGCC -3'
(R):5'- AAGGGGTTGGGAATGTCCATTC -3'

Sequencing Primer
(F):5'- AACTTGCCTTTGAGCGTTAAG -3'
(R):5'- GGACATCGAGGTCACACTAATC -3'

Posted On

2015-07-21