Mutagenetix > Incidental Mutation

Incidental Mutation 'R6488:Zfp64'

522484

Institutional Source

Beutler Lab

Gene Symbol

Zfp64

Ensembl Gene

ENSMUSG00000027551

Gene Name

zinc finger protein 64

Synonyms

MMRRC Submission

044620-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.863) question?

Stock #

R6488 (G1)

Quality Score

150.008

Status

Validated

Chromosome

Chromosomal Location

168735251-168797507 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 168777129 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000104790 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000087971] [ENSMUST00000087971] [ENSMUST00000109161] [ENSMUST00000109161] [ENSMUST00000109162] [ENSMUST00000109162]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000087971

SMART Domains

Protein: ENSMUSP00000085285
Gene: ENSMUSG00000027551

Domain	Start	End	E-Value	Type
ZnF_C2H2	31	51	5.54e1	SMART
low complexity region	71	93	N/A	INTRINSIC
ZnF_C2H2	142	167	1.68e1	SMART
ZnF_C2H2	173	195	2.24e-3	SMART
ZnF_C2H2	201	223	1.58e-3	SMART
ZnF_C2H2	229	251	2.24e-3	SMART
ZnF_C2H2	257	279	3.89e-3	SMART
ZnF_C2H2	285	308	6.32e-3	SMART
ZnF_C2H2	313	335	2.05e-2	SMART
ZnF_C2H2	341	363	1.95e-3	SMART
ZnF_C2H2	369	392	1.36e-2	SMART
ZnF_C2H2	423	445	1.47e-3	SMART
low complexity region	503	522	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000087971

SMART Domains

Protein: ENSMUSP00000085285
Gene: ENSMUSG00000027551

Domain	Start	End	E-Value	Type
ZnF_C2H2	31	51	5.54e1	SMART
low complexity region	71	93	N/A	INTRINSIC
ZnF_C2H2	142	167	1.68e1	SMART
ZnF_C2H2	173	195	2.24e-3	SMART
ZnF_C2H2	201	223	1.58e-3	SMART
ZnF_C2H2	229	251	2.24e-3	SMART
ZnF_C2H2	257	279	3.89e-3	SMART
ZnF_C2H2	285	308	6.32e-3	SMART
ZnF_C2H2	313	335	2.05e-2	SMART
ZnF_C2H2	341	363	1.95e-3	SMART
ZnF_C2H2	369	392	1.36e-2	SMART
ZnF_C2H2	423	445	1.47e-3	SMART
low complexity region	503	522	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000109161

SMART Domains

Protein: ENSMUSP00000104789
Gene: ENSMUSG00000027551

Domain	Start	End	E-Value	Type
ZnF_C2H2	31	51	5.54e1	SMART
low complexity region	71	93	N/A	INTRINSIC
ZnF_C2H2	142	167	1.68e1	SMART
ZnF_C2H2	173	195	2.24e-3	SMART
ZnF_C2H2	201	223	1.58e-3	SMART
ZnF_C2H2	229	251	2.24e-3	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000109161

SMART Domains

Protein: ENSMUSP00000104789
Gene: ENSMUSG00000027551

Domain	Start	End	E-Value	Type
ZnF_C2H2	31	51	5.54e1	SMART
low complexity region	71	93	N/A	INTRINSIC
ZnF_C2H2	142	167	1.68e1	SMART
ZnF_C2H2	173	195	2.24e-3	SMART
ZnF_C2H2	201	223	1.58e-3	SMART
ZnF_C2H2	229	251	2.24e-3	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000109162

SMART Domains

Protein: ENSMUSP00000104790
Gene: ENSMUSG00000027551

Domain	Start	End	E-Value	Type
ZnF_C2H2	31	51	5.54e1	SMART
low complexity region	71	93	N/A	INTRINSIC
ZnF_C2H2	142	167	1.68e1	SMART
ZnF_C2H2	173	195	2.24e-3	SMART
ZnF_C2H2	201	223	1.58e-3	SMART
ZnF_C2H2	229	251	2.24e-3	SMART
ZnF_C2H2	297	322	5.2e0	SMART
ZnF_C2H2	328	350	4.17e-3	SMART
ZnF_C2H2	356	378	6.78e-3	SMART
ZnF_C2H2	384	406	2.24e-3	SMART
ZnF_C2H2	412	434	1.79e-2	SMART
ZnF_C2H2	440	463	9.58e-3	SMART
ZnF_C2H2	465	487	3.78e-1	SMART
ZnF_C2H2	493	515	3.89e-3	SMART
ZnF_C2H2	521	544	1.92e-2	SMART
ZnF_C2H2	578	600	5.34e-1	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000109162

SMART Domains

Protein: ENSMUSP00000104790
Gene: ENSMUSG00000027551

Domain	Start	End	E-Value	Type
ZnF_C2H2	31	51	5.54e1	SMART
low complexity region	71	93	N/A	INTRINSIC
ZnF_C2H2	142	167	1.68e1	SMART
ZnF_C2H2	173	195	2.24e-3	SMART
ZnF_C2H2	201	223	1.58e-3	SMART
ZnF_C2H2	229	251	2.24e-3	SMART
ZnF_C2H2	297	322	5.2e0	SMART
ZnF_C2H2	328	350	4.17e-3	SMART
ZnF_C2H2	356	378	6.78e-3	SMART
ZnF_C2H2	384	406	2.24e-3	SMART
ZnF_C2H2	412	434	1.79e-2	SMART
ZnF_C2H2	440	463	9.58e-3	SMART
ZnF_C2H2	465	487	3.78e-1	SMART
ZnF_C2H2	493	515	3.89e-3	SMART
ZnF_C2H2	521	544	1.92e-2	SMART
ZnF_C2H2	578	600	5.34e-1	SMART

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.7%

Validation Efficiency

96% (65/68)

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	C	T	7: 41,275,298 (GRCm39)	Q334*	probably null	Het
Abhd15	T	C	11: 77,406,848 (GRCm39)	F275S	possibly damaging	Het
Adamts7	A	G	9: 90,053,535 (GRCm39)	T27A	probably benign	Het
Ankar	A	G	1: 72,720,967 (GRCm39)		probably null	Het
Ap2a2	T	C	7: 141,182,220 (GRCm39)	V183A	probably benign	Het
Arhgef37	G	A	18: 61,651,123 (GRCm39)	A134V	probably benign	Het
Col3a1	C	A	1: 45,370,694 (GRCm39)		probably benign	Het
Cplx3	A	G	9: 57,527,926 (GRCm39)	S10P	possibly damaging	Het
Cxcr5	A	G	9: 44,425,276 (GRCm39)	V127A	probably damaging	Het
Eif4b	T	A	15: 102,001,422 (GRCm39)		probably benign	Het
Ext2	A	G	2: 93,636,430 (GRCm39)	V228A	probably damaging	Het
Fam83h	T	C	15: 75,873,902 (GRCm39)	E1145G	possibly damaging	Het
Fcgbp	A	G	7: 27,792,963 (GRCm39)	D989G	probably damaging	Het
Fchsd1	T	C	18: 38,100,321 (GRCm39)		probably null	Het
Fcnb	T	C	2: 27,968,301 (GRCm39)	K219E	probably damaging	Het
Fndc7	T	C	3: 108,777,891 (GRCm39)	E355G	probably damaging	Het
Glis3	T	C	19: 28,276,253 (GRCm39)	H746R	probably benign	Het
Glod4	A	G	11: 76,128,611 (GRCm39)	V74A	probably damaging	Het
Gpc6	T	C	14: 118,202,125 (GRCm39)	I445T	possibly damaging	Het
Hdlbp	T	C	1: 93,355,946 (GRCm39)	D337G	probably damaging	Het
Hnf1a	T	C	5: 115,094,020 (GRCm39)	T190A	probably benign	Het
Iqgap1	G	C	7: 80,380,074 (GRCm39)	T1129R	probably benign	Het
Kcnc3	T	C	7: 44,244,606 (GRCm39)	F299L	possibly damaging	Het
Kif26b	T	C	1: 178,357,138 (GRCm39)	V4A	unknown	Het
Kifbp	C	A	10: 62,395,437 (GRCm39)		probably null	Het
Klra9	G	T	6: 130,155,995 (GRCm39)	Y253*	probably null	Het
Krtap4-1	G	T	11: 99,518,903 (GRCm39)	R36S	unknown	Het
Lrpprc	T	C	17: 85,058,781 (GRCm39)	N693S	probably damaging	Het
Lrrc49	A	T	9: 60,509,916 (GRCm39)	F157L	probably damaging	Het
Mettl22	T	C	16: 8,305,225 (GRCm39)	F293L	probably damaging	Het
Mga	T	A	2: 119,791,388 (GRCm39)	N2424K	probably damaging	Het
Mgat4f	T	A	1: 134,318,626 (GRCm39)	V466D	probably damaging	Het
Mpdz	G	T	4: 81,205,970 (GRCm39)	A1784E	probably benign	Het
Mpv17l	G	A	16: 13,764,452 (GRCm39)		probably null	Het
Mtus1	G	A	8: 41,494,545 (GRCm39)	S29L	possibly damaging	Het
Myo15a	A	T	11: 60,369,313 (GRCm39)	H691L	possibly damaging	Het
Nbea	T	C	3: 55,625,264 (GRCm39)	T2276A	probably damaging	Het
Npas4	A	G	19: 5,036,011 (GRCm39)	S718P	probably damaging	Het
Ntrk2	T	A	13: 59,009,170 (GRCm39)	N320K	possibly damaging	Het
Nup214	T	A	2: 31,881,384 (GRCm39)	I414N	possibly damaging	Het
Oas2	A	G	5: 120,876,428 (GRCm39)	F15S	probably damaging	Het
Or52z15	T	C	7: 103,332,285 (GRCm39)	I110T	probably damaging	Het
Or5b118	T	C	19: 13,448,981 (GRCm39)	Y216H	probably damaging	Het
Pabpc6	A	G	17: 9,888,528 (GRCm39)	Y8H	probably damaging	Het
Pbx1	T	A	1: 168,018,964 (GRCm39)	N294Y	probably damaging	Het
Pcyt1a	T	C	16: 32,285,899 (GRCm39)	M190T	probably damaging	Het
Pogk	T	C	1: 166,226,991 (GRCm39)	I387V	possibly damaging	Het
Ppp6r2	T	C	15: 89,152,741 (GRCm39)	L294P	probably benign	Het
Pramel51	T	C	12: 88,144,357 (GRCm39)	H152R	possibly damaging	Het
Ptprn2	T	A	12: 116,835,658 (GRCm39)	I331K	probably benign	Het
Ptpro	T	G	6: 137,370,673 (GRCm39)	Y591*	probably null	Het
Ptprz1	T	A	6: 23,001,516 (GRCm39)	L1202*	probably null	Het
Rab37	A	G	11: 115,048,789 (GRCm39)	T73A	probably benign	Het
Rad51ap2	T	G	12: 11,508,161 (GRCm39)	S694R	possibly damaging	Het
Rb1cc1	T	A	1: 6,340,951 (GRCm39)	D148E	probably damaging	Het
Rraga	G	A	4: 86,494,565 (GRCm39)	R137H	probably damaging	Het
Serpinf2	A	G	11: 75,328,329 (GRCm39)	V73A	probably benign	Het
Siglec1	T	C	2: 130,923,227 (GRCm39)	N506S	probably damaging	Het
Slc35e4	T	C	11: 3,862,602 (GRCm39)	T196A	possibly damaging	Het
St6galnac3	C	T	3: 153,117,394 (GRCm39)	A110T	probably damaging	Het
Thsd1	T	C	8: 22,733,733 (GRCm39)	V260A	probably benign	Het
Tpbg	T	A	9: 85,726,538 (GRCm39)	V169D	possibly damaging	Het
Trav16n	A	G	14: 53,589,042 (GRCm39)	E106G	probably benign	Het
Vmn1r219	T	C	13: 23,347,135 (GRCm39)	I108T	probably benign	Het
Vmn2r50	T	C	7: 9,771,644 (GRCm39)	I686V	probably damaging	Het
Zdhhc20	C	T	14: 58,078,289 (GRCm39)	R329K	probably benign	Het
Zfp941	C	T	7: 140,392,663 (GRCm39)	R232H	probably benign	Het

Other mutations in Zfp64

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00155:Zfp64	APN	2	168,768,601 (GRCm39)	missense	probably benign	0.06
IGL01479:Zfp64	APN	2	168,793,599 (GRCm39)	missense	probably damaging	1.00
IGL02320:Zfp64	APN	2	168,768,118 (GRCm39)	missense	probably damaging	0.98
IGL03411:Zfp64	APN	2	168,793,462 (GRCm39)	splice site	probably null
PIT4362001:Zfp64	UTSW	2	168,767,735 (GRCm39)	missense	probably benign	0.23
R0033:Zfp64	UTSW	2	168,767,635 (GRCm39)	missense	possibly damaging	0.94
R0033:Zfp64	UTSW	2	168,767,635 (GRCm39)	missense	possibly damaging	0.94
R0230:Zfp64	UTSW	2	168,754,150 (GRCm39)	splice site	probably benign
R0325:Zfp64	UTSW	2	168,767,960 (GRCm39)	missense	probably benign	0.00
R0689:Zfp64	UTSW	2	168,777,121 (GRCm39)	splice site	probably benign
R1741:Zfp64	UTSW	2	168,768,238 (GRCm39)	missense	probably benign	0.05
R2054:Zfp64	UTSW	2	168,767,728 (GRCm39)	missense	probably damaging	1.00
R2133:Zfp64	UTSW	2	168,782,663 (GRCm39)	missense	probably damaging	1.00
R2254:Zfp64	UTSW	2	168,768,662 (GRCm39)	missense	probably damaging	0.96
R4093:Zfp64	UTSW	2	168,767,855 (GRCm39)	missense	probably benign	0.00
R4094:Zfp64	UTSW	2	168,767,855 (GRCm39)	missense	probably benign	0.00
R4257:Zfp64	UTSW	2	168,768,298 (GRCm39)	missense	probably damaging	1.00
R4630:Zfp64	UTSW	2	168,768,463 (GRCm39)	missense	possibly damaging	0.94
R4642:Zfp64	UTSW	2	168,776,851 (GRCm39)	missense	probably benign	0.22
R4817:Zfp64	UTSW	2	168,768,032 (GRCm39)	missense	probably benign
R4880:Zfp64	UTSW	2	168,736,297 (GRCm39)	missense	probably damaging	1.00
R5051:Zfp64	UTSW	2	168,768,304 (GRCm39)	missense	probably damaging	0.98
R5155:Zfp64	UTSW	2	168,748,885 (GRCm39)	missense	probably benign	0.17
R5562:Zfp64	UTSW	2	168,767,642 (GRCm39)	missense	probably benign	0.00
R5619:Zfp64	UTSW	2	168,741,735 (GRCm39)	missense	probably damaging	0.97
R5619:Zfp64	UTSW	2	168,741,734 (GRCm39)	missense	probably damaging	0.99
R5620:Zfp64	UTSW	2	168,741,888 (GRCm39)	missense	possibly damaging	0.70
R5919:Zfp64	UTSW	2	168,768,419 (GRCm39)	missense	probably benign	0.05
R6156:Zfp64	UTSW	2	168,768,088 (GRCm39)	missense	probably benign	0.34
R6364:Zfp64	UTSW	2	168,754,186 (GRCm39)	missense	probably damaging	1.00
R6512:Zfp64	UTSW	2	168,735,997 (GRCm39)	missense	probably benign	0.00
R6588:Zfp64	UTSW	2	168,768,827 (GRCm39)	missense	probably damaging	1.00
R7103:Zfp64	UTSW	2	168,768,357 (GRCm39)	missense	probably benign	0.00
R7313:Zfp64	UTSW	2	168,741,810 (GRCm39)	missense	probably damaging	1.00
R7470:Zfp64	UTSW	2	168,767,731 (GRCm39)	missense	probably damaging	1.00
R7529:Zfp64	UTSW	2	168,735,992 (GRCm39)	missense	probably benign
R7560:Zfp64	UTSW	2	168,767,585 (GRCm39)	missense	probably damaging	1.00
R7963:Zfp64	UTSW	2	168,793,538 (GRCm39)	missense	probably benign	0.32
R8037:Zfp64	UTSW	2	168,741,932 (GRCm39)	missense	probably damaging	1.00
R8038:Zfp64	UTSW	2	168,741,932 (GRCm39)	missense	probably damaging	1.00
R8825:Zfp64	UTSW	2	168,793,552 (GRCm39)	missense	probably benign
R8840:Zfp64	UTSW	2	168,768,635 (GRCm39)	missense	probably benign
R8891:Zfp64	UTSW	2	168,797,083 (GRCm39)	start codon destroyed	probably null	0.37
R9062:Zfp64	UTSW	2	168,767,747 (GRCm39)	missense	probably benign
R9592:Zfp64	UTSW	2	168,768,118 (GRCm39)	missense	probably damaging	1.00
R9681:Zfp64	UTSW	2	168,793,680 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTTTCTTACAGCCCAGGTTGG -3'
(R):5'- GTCAAGCCCTACAAGTGCAAG -3'

Sequencing Primer
(F):5'- TTCATATAGTGCAGATCGGCC -3'
(R):5'- GCCCTACAAGTGCAAGACGTG -3'

Posted On

2018-06-06