Mutagenetix > Incidental Mutation

Incidental Mutation 'R1839:Zfp523'

205648

Institutional Source

Beutler Lab

Gene Symbol

Zfp523

Ensembl Gene

ENSMUSG00000024220

Gene Name

zinc finger protein 523

Synonyms

MMRRC Submission

045015-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.254) question?

Stock #

R1839 (G1)

Quality Score

134

Status

Validated

Chromosome

Chromosomal Location

28396136-28424860 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 28413967 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 34 (I34N)

Ref Sequence

ENSEMBL: ENSMUSP00000073226 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002318] [ENSMUST00000073534] [ENSMUST00000133868]

AlphaFold

Q8BMU0

Predicted Effect

probably damaging
Transcript: ENSMUST00000002318
AA Change: I34N

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000002318
Gene: ENSMUSG00000024220
AA Change: I34N

Domain	Start	End	E-Value	Type
internal_repeat_1	7	45	7.42e-6	PROSPERO
internal_repeat_1	60	99	7.42e-6	PROSPERO
low complexity region	116	129	N/A	INTRINSIC
ZnF_C2H2	165	189	7.15e-2	SMART
ZnF_C2H2	195	219	3.16e-3	SMART
ZnF_C2H2	225	249	8.47e-4	SMART
ZnF_C2H2	255	279	2.24e-3	SMART
ZnF_C2H2	285	309	3.44e-4	SMART
ZnF_C2H2	315	339	1.69e-3	SMART
ZnF_C2H2	345	368	5.06e-2	SMART
low complexity region	375	396	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000073534
AA Change: I34N

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000073226
Gene: ENSMUSG00000024220
AA Change: I34N

Domain	Start	End	E-Value	Type
internal_repeat_1	7	45	7.42e-6	PROSPERO
internal_repeat_1	60	99	7.42e-6	PROSPERO
low complexity region	116	129	N/A	INTRINSIC
ZnF_C2H2	165	189	7.15e-2	SMART
ZnF_C2H2	195	219	3.16e-3	SMART
ZnF_C2H2	225	249	8.47e-4	SMART
ZnF_C2H2	255	279	2.24e-3	SMART
ZnF_C2H2	285	309	3.44e-4	SMART
ZnF_C2H2	315	339	1.69e-3	SMART
ZnF_C2H2	345	368	5.06e-2	SMART
low complexity region	375	396	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000133868

SMART Domains

Protein: ENSMUSP00000123127
Gene: ENSMUSG00000024220

Domain	Start	End	E-Value	Type
low complexity region	35	48	N/A	INTRINSIC
ZnF_C2H2	84	108	7.15e-2	SMART
ZnF_C2H2	114	138	3.16e-3	SMART
ZnF_C2H2	144	168	8.47e-4	SMART
ZnF_C2H2	174	198	3.44e-4	SMART
ZnF_C2H2	204	228	1.69e-3	SMART
ZnF_C2H2	234	257	5.06e-2	SMART
low complexity region	264	285	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145313

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161275

Meta Mutation Damage Score

0.7564

Coding Region Coverage

1x: 97.4%
3x: 96.7%
10x: 94.7%
20x: 90.6%

Validation Efficiency

98% (90/92)

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	T	C	3: 124,203,369 (GRCm39)	T403A	probably damaging	Het
Acat3	T	A	17: 13,147,493 (GRCm39)	R175*	probably null	Het
Adam1b	C	A	5: 121,639,104 (GRCm39)	C647F	probably damaging	Het
Adam28	T	C	14: 68,876,659 (GRCm39)	N197S	possibly damaging	Het
Adcy2	C	T	13: 68,837,380 (GRCm39)		probably null	Het
Adcy5	A	T	16: 35,069,310 (GRCm39)	N426I	probably damaging	Het
Adgre1	T	C	17: 57,748,299 (GRCm39)	S500P	probably benign	Het
Aloxe3	A	G	11: 69,020,911 (GRCm39)	Y212C	probably damaging	Het
Ap3d1	A	G	10: 80,562,942 (GRCm39)	S180P	probably damaging	Het
Arhgap20	C	T	9: 51,760,626 (GRCm39)	R790W	probably damaging	Het
Atp8b4	C	A	2: 126,203,702 (GRCm39)	A757S	possibly damaging	Het
Begain	G	A	12: 109,001,249 (GRCm39)		probably benign	Het
Ccdc141	T	C	2: 76,842,009 (GRCm39)	E1474G	probably benign	Het
Ccdc88b	A	G	19: 6,831,477 (GRCm39)		probably benign	Het
Ccnk	A	G	12: 108,161,333 (GRCm39)	T195A	probably damaging	Het
Cd55b	C	A	1: 130,341,842 (GRCm39)	C265F	probably damaging	Het
Celsr3	A	G	9: 108,707,105 (GRCm39)	H1196R	probably benign	Het
Cenpt	T	C	8: 106,575,646 (GRCm39)	S190G	possibly damaging	Het
Chd8	T	C	14: 52,442,340 (GRCm39)	S2077G	probably benign	Het
Col6a5	G	A	9: 105,742,032 (GRCm39)	H2296Y	probably benign	Het
Cxxc4	C	A	3: 133,946,414 (GRCm39)	H332N	probably damaging	Het
Cyp24a1	T	C	2: 170,338,661 (GRCm39)	I12V	probably benign	Het
Cyp3a57	T	A	5: 145,318,111 (GRCm39)	L364Q	probably damaging	Het
Ddi2	T	C	4: 141,440,837 (GRCm39)	I47V	probably benign	Het
Ddx5	A	T	11: 106,675,723 (GRCm39)	D322E	probably benign	Het
Dhx40	A	G	11: 86,680,123 (GRCm39)	C405R	possibly damaging	Het
Emc1	T	C	4: 139,087,796 (GRCm39)	F100S	probably damaging	Het
Exoc2	T	C	13: 31,090,480 (GRCm39)		probably benign	Het
Gm10110	A	T	14: 90,135,272 (GRCm39)		noncoding transcript	Het
Gm17332	T	C	11: 31,132,386 (GRCm39)	H26R	possibly damaging	Het
Gna12	T	C	5: 140,748,367 (GRCm39)	N183S	probably benign	Het
Gpx6	A	G	13: 21,496,497 (GRCm39)	N24D	probably benign	Het
Gsdma3	C	T	11: 98,520,684 (GRCm39)	A105V	probably benign	Het
Hsd3b5	T	C	3: 98,527,044 (GRCm39)	Y134C	probably benign	Het
Ifi213	T	C	1: 173,417,166 (GRCm39)	I415M	probably damaging	Het
Ints9	C	A	14: 65,253,979 (GRCm39)	P278T	probably damaging	Het
Krt79	C	T	15: 101,846,373 (GRCm39)	E192K	possibly damaging	Het
Lrrk2	A	G	15: 91,567,337 (GRCm39)	N132S	probably benign	Het
Ltn1	T	A	16: 87,213,152 (GRCm39)	K470*	probably null	Het
Magi2	A	T	5: 20,670,825 (GRCm39)	T163S	probably damaging	Het
Mcm9	A	G	10: 53,417,649 (GRCm39)	M18T	probably damaging	Het
Med12l	A	G	3: 58,975,740 (GRCm39)	T212A	probably benign	Het
Mfhas1	T	C	8: 36,058,012 (GRCm39)	L829P	possibly damaging	Het
Mgme1	T	A	2: 144,121,407 (GRCm39)	C288S	probably benign	Het
Muc4	G	C	16: 32,753,919 (GRCm38)	R1265P	probably benign	Het
Myh7	T	C	14: 55,210,637 (GRCm39)	N1725S	possibly damaging	Het
Naa80	G	A	9: 107,460,216 (GRCm39)	R37H	possibly damaging	Het
Nme4	A	T	17: 26,311,071 (GRCm39)	W165R	probably damaging	Het
Nup205	T	A	6: 35,196,649 (GRCm39)	D1128E	probably benign	Het
Or2t48	A	T	11: 58,420,199 (GRCm39)	Y204*	probably null	Het
Or5ae2	T	C	7: 84,505,756 (GRCm39)	Y60H	probably damaging	Het
Pcdh1	T	C	18: 38,332,538 (GRCm39)	D155G	possibly damaging	Het
Pex12	A	T	11: 83,188,648 (GRCm39)	S116T	probably damaging	Het
Plekhh1	C	T	12: 79,125,731 (GRCm39)		probably benign	Het
Plekhh3	A	G	11: 101,054,426 (GRCm39)		probably benign	Het
Pnpt1	T	C	11: 29,104,342 (GRCm39)	M572T	possibly damaging	Het
Ppp1r12b	T	C	1: 134,765,719 (GRCm39)	R667G	probably benign	Het
Rbpms2	ACTGCTGCTGCTGCTGC	ACTGCTGCTGCTGCTGCTGC	9: 65,558,948 (GRCm39)		probably benign	Het
Rgs14	T	C	13: 55,530,651 (GRCm39)		probably benign	Het
Rhbdf2	A	T	11: 116,491,017 (GRCm39)	V645E	possibly damaging	Het
Robo3	A	G	9: 37,333,623 (GRCm39)	V696A	probably benign	Het
Sall1	A	G	8: 89,755,344 (GRCm39)	F1212L	possibly damaging	Het
Sdc4	T	C	2: 164,270,932 (GRCm39)	E109G	probably benign	Het
Serpind1	G	T	16: 17,160,856 (GRCm39)	R462L	probably damaging	Het
Smad9	CTTT	CTT	3: 54,696,600 (GRCm39)		probably benign	Het
Sstr4	C	A	2: 148,237,453 (GRCm39)	N21K	probably benign	Het
Tap1	C	T	17: 34,407,083 (GRCm39)	A77V	possibly damaging	Het
Thap4	T	C	1: 93,678,009 (GRCm39)	E259G	probably benign	Het
Thra	A	G	11: 98,646,969 (GRCm39)	N30S	probably benign	Het
Tmem207	A	T	16: 26,343,571 (GRCm39)	V27E	possibly damaging	Het
Top3a	A	G	11: 60,644,714 (GRCm39)	V305A	probably damaging	Het
Trim59	A	T	3: 68,944,971 (GRCm39)	I123K	probably damaging	Het
Ttn	T	C	2: 76,691,839 (GRCm39)		probably benign	Het
Ubac1	T	A	2: 25,897,750 (GRCm39)	E290V	possibly damaging	Het
Unc13b	T	C	4: 43,258,308 (GRCm39)		probably benign	Het
Uri1	A	T	7: 37,666,814 (GRCm39)	D206E	probably benign	Het
Utp4	A	G	8: 107,640,086 (GRCm39)	H465R	probably benign	Het
Uvssa	T	C	5: 33,547,096 (GRCm39)	S221P	probably benign	Het
Vmn1r39	T	C	6: 66,782,217 (GRCm39)		probably null	Het
Vps39	A	T	2: 120,155,878 (GRCm39)	L514H	probably damaging	Het
Vps72	G	A	3: 95,026,529 (GRCm39)	R158Q	possibly damaging	Het
Wdr59	T	C	8: 112,211,972 (GRCm39)	D366G	probably benign	Het
Zfp366	C	A	13: 99,365,000 (GRCm39)	Q54K	probably damaging	Het
Zfp974	G	A	7: 27,609,781 (GRCm39)	P648L	possibly damaging	Het

Other mutations in Zfp523

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01097:Zfp523	APN	17	28,420,023 (GRCm39)	missense	possibly damaging	0.95
IGL01405:Zfp523	APN	17	28,423,480 (GRCm39)	missense	probably damaging	0.99
IGL02430:Zfp523	APN	17	28,414,113 (GRCm39)	unclassified	probably benign
R0496:Zfp523	UTSW	17	28,419,419 (GRCm39)	missense	possibly damaging	0.83
R1533:Zfp523	UTSW	17	28,423,473 (GRCm39)	missense	probably benign	0.18
R1837:Zfp523	UTSW	17	28,413,967 (GRCm39)	missense	probably damaging	0.99
R1838:Zfp523	UTSW	17	28,413,967 (GRCm39)	missense	probably damaging	0.99
R2023:Zfp523	UTSW	17	28,419,978 (GRCm39)	unclassified	probably benign
R2104:Zfp523	UTSW	17	28,414,190 (GRCm39)	missense	probably benign	0.31
R2403:Zfp523	UTSW	17	28,414,183 (GRCm39)	missense	probably damaging	1.00
R2864:Zfp523	UTSW	17	28,421,514 (GRCm39)	missense	probably benign	0.00
R4157:Zfp523	UTSW	17	28,421,257 (GRCm39)	missense	probably benign	0.06
R4214:Zfp523	UTSW	17	28,420,003 (GRCm39)	missense	probably benign	0.04
R4771:Zfp523	UTSW	17	28,420,312 (GRCm39)	splice site	probably null
R5869:Zfp523	UTSW	17	28,413,967 (GRCm39)	missense	probably benign	0.37
R5950:Zfp523	UTSW	17	28,421,532 (GRCm39)	missense	probably benign	0.06
R6443:Zfp523	UTSW	17	28,420,381 (GRCm39)	missense	probably damaging	0.99
R6679:Zfp523	UTSW	17	28,421,194 (GRCm39)	missense	probably damaging	1.00
R6694:Zfp523	UTSW	17	28,419,446 (GRCm39)	missense	probably damaging	1.00
R7669:Zfp523	UTSW	17	28,420,015 (GRCm39)	missense	probably damaging	1.00
R8103:Zfp523	UTSW	17	28,420,267 (GRCm39)	missense	probably damaging	1.00
R8315:Zfp523	UTSW	17	28,421,562 (GRCm39)	missense	possibly damaging	0.90
R9001:Zfp523	UTSW	17	28,408,915 (GRCm39)	missense	possibly damaging	0.64
R9406:Zfp523	UTSW	17	28,416,840 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CATGGCAGGATGTTTCTCCTC -3'
(R):5'- GGGCTGACCATCTTCAAAGGAG -3'

Sequencing Primer
(F):5'- CCTCCAGACTGAGGCTTAAGAG -3'
(R):5'- TCTTCAAAGGAGAAAGACTCTGC -3'

Posted On

2014-06-23