Mutagenetix > Incidental Mutations

Incidental Mutation 'R7164:Zfp324'

557798

Institutional Source

Beutler Lab

Gene Symbol

Zfp324

Ensembl Gene

ENSMUSG00000004500

Gene Name

zinc finger protein 324

Synonyms

D430030K24Rik, ZF5128

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

R7164 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

12965838-12974236 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 12968883 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 58 (H58L)

Ref Sequence

ENSEMBL: ENSMUSP00000041944 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038701] [ENSMUST00000124387] [ENSMUST00000128293] [ENSMUST00000210619]

Predicted Effect

probably damaging
Transcript: ENSMUST00000038701
AA Change: H58L

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000041944
Gene: ENSMUSG00000004500
AA Change: H58L

Domain	Start	End	E-Value	Type
KRAB	31	91	8.89e-30	SMART
ZnF_C2H2	291	313	2.95e-3	SMART
ZnF_C2H2	319	341	1.82e-3	SMART
ZnF_C2H2	347	369	6.88e-4	SMART
ZnF_C2H2	375	397	1.95e-3	SMART
ZnF_C2H2	403	425	2.71e-2	SMART
ZnF_C2H2	431	453	2.95e-3	SMART
ZnF_C2H2	459	481	2.75e-3	SMART
ZnF_C2H2	487	509	1.25e-1	SMART
ZnF_C2H2	515	537	7.37e-4	SMART
low complexity region	564	579	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000124387

Predicted Effect

possibly damaging
Transcript: ENSMUST00000128293
AA Change: H58L

PolyPhen 2 Score 0.687 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000124620
Gene: ENSMUSG00000004500
AA Change: H58L

Domain	Start	End	E-Value	Type
KRAB	31	75	3.83e-11	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000210619
AA Change: H58L

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

Coding Region Coverage

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

Validation Efficiency

100% (59/59)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610037L13Rik	C	A	4: 107,894,890	D155E	not run	Het
4932415D10Rik	G	A	10: 82,286,229	T3649I	probably damaging	Het
Actn2	G	A	13: 12,278,961	H558Y	probably damaging	Het
Akap9	G	C	5: 4,060,364	E3022D	probably damaging	Het
Anapc2	C	T	2: 25,284,999	R710C	probably damaging	Het
Bcl6	G	A	16: 23,966,226	R675*	probably null	Het
Carmil3	A	G	14: 55,501,282	E844G	probably damaging	Het
Cdk17	T	G	10: 93,232,481	S367A	probably benign	Het
Cfap206	T	A	4: 34,719,656	M253L	probably benign	Het
Chd3	T	G	11: 69,362,306	K228Q	probably damaging	Het
Cit	T	A	5: 115,985,787	I1503N	possibly damaging	Het
Csn1s1	A	G	5: 87,674,228	N119S	possibly damaging	Het
Degs1	A	G	1: 182,279,125	S226P	probably damaging	Het
Espl1	T	C	15: 102,313,203	W976R	probably damaging	Het
Fbxl4	C	T	4: 22,386,218	P275L	probably benign	Het
Flnb	A	G	14: 7,915,944		probably null	Het
Gm996	T	A	2: 25,578,567	H444L	possibly damaging	Het
Gnptab	T	A	10: 88,434,070	Y878*	probably null	Het
Gpr89	A	T	3: 96,871,398	M453K	probably benign	Het
Igsf5	A	T	16: 96,372,848	Q26L	possibly damaging	Het
Inpp5e	T	A	2: 26,407,983	D202V	possibly damaging	Het
Itga3	C	T	11: 95,052,479	V931M	possibly damaging	Het
Kcnab3	T	C	11: 69,331,358		probably null	Het
Klk4	T	C	7: 43,881,698	I17T	possibly damaging	Het
Lrrc73	T	C	17: 46,256,243	L206P	probably damaging	Het
Manba	A	T	3: 135,542,388	N346I	probably damaging	Het
Map4k4	T	C	1: 39,973,972	Y76H	possibly damaging	Het
Map4k5	T	C	12: 69,830,436	T312A	probably benign	Het
Masp2	A	G	4: 148,610,115		probably null	Het
Mast1	T	C	8: 84,935,304	D63G	possibly damaging	Het
Mtf2	T	A	5: 108,093,369	S254T	possibly damaging	Het
Myo16	A	T	8: 10,569,585	T1379S	unknown	Het
Myo5a	A	G	9: 75,180,153	E1097G	probably benign	Het
Nat1	T	C	8: 67,491,677	V238A	possibly damaging	Het
Nhlrc2	A	G	19: 56,592,499	D493G	probably damaging	Het
Olfr1165-ps	T	C	2: 88,101,832	K52E	probably damaging	Het
Olfr1331	C	T	4: 118,869,725	P315S	probably benign	Het
Olfr1462	A	T	19: 13,190,906	M80L	probably benign	Het
Olfr291	A	G	7: 84,857,043	I227V	possibly damaging	Het
Olfr50	T	C	2: 36,793,697	S154P	probably benign	Het
Olfr919	A	G	9: 38,698,219	I49T	possibly damaging	Het
Pcsk5	C	T	19: 17,451,985	C1543Y	probably damaging	Het
Pde4d	A	G	13: 109,032,688	D88G	probably benign	Het
Pld5	A	T	1: 176,213,621	M1K	probably null	Het
Prmt6	A	G	3: 110,250,364	M203T	probably benign	Het
Prr14l	A	T	5: 32,829,166	V995D	probably damaging	Het
Psg18	T	C	7: 18,350,937	E199G	possibly damaging	Het
Pth1r	A	G	9: 110,723,747	I439T	possibly damaging	Het
Ptprc	T	A	1: 138,117,862	I87F	probably benign	Het
Slc44a1	T	C	4: 53,528,711	S154P	probably benign	Het
Slco1c1	T	A	6: 141,542,129	Y192*	probably null	Het
Spag16	A	G	1: 70,724,866	H615R	possibly damaging	Het
Tas2r114	G	A	6: 131,689,765	A100V	possibly damaging	Het
U2af1l4	T	C	7: 30,565,119	S103P	probably benign	Het
Usp10	T	C	8: 119,942,108	S383P	probably damaging	Het
Vmn2r113	A	G	17: 22,948,163	R505G	probably benign	Het
Vmn2r75	A	C	7: 86,165,384	D300E	probably damaging	Het
Zfp318	T	A	17: 46,397,306		probably null	Het
Zfp318	T	C	17: 46,405,939	V999A	probably damaging	Het
Zfp707	A	G	15: 75,975,118	E339G	possibly damaging	Het

Other mutations in Zfp324

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01109:Zfp324	APN	7	12969435	missense	probably benign	0.02
IGL01943:Zfp324	APN	7	12968786	splice site	probably benign
IGL02668:Zfp324	APN	7	12970846	missense	probably damaging	1.00
R0883:Zfp324	UTSW	7	12971024	missense	probably damaging	1.00
R0931:Zfp324	UTSW	7	12966258	missense	probably benign	0.05
R1164:Zfp324	UTSW	7	12971624	missense	probably benign	0.02
R1587:Zfp324	UTSW	7	12970643	missense	possibly damaging	0.63
R1837:Zfp324	UTSW	7	12970229	missense	probably benign	0.15
R1982:Zfp324	UTSW	7	12971218	missense	probably damaging	1.00
R2333:Zfp324	UTSW	7	12971245	missense	possibly damaging	0.93
R3155:Zfp324	UTSW	7	12968890	missense	probably damaging	1.00
R4050:Zfp324	UTSW	7	12970867	missense	probably damaging	1.00
R4784:Zfp324	UTSW	7	12971306	missense	probably damaging	1.00
R4992:Zfp324	UTSW	7	12969373	missense	probably benign	0.02
R5970:Zfp324	UTSW	7	12969366	missense	probably benign	0.28
R6767:Zfp324	UTSW	7	12970600	missense	probably null	0.13
R7007:Zfp324	UTSW	7	12971215	missense	probably damaging	1.00
R7152:Zfp324	UTSW	7	12966271	missense	probably benign	0.07
R7233:Zfp324	UTSW	7	12970597	nonsense	probably null
X0062:Zfp324	UTSW	7	12971389	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAACCAGTCTACAGGGAAGG -3'
(R):5'- GACTATATGTGTCCAGGGCAC -3'

Sequencing Primer
(F):5'- TCTACAGGGAAGGAAGATAAATGTC -3'
(R):5'- TCCTCTCACATCCCTATAGATAGAGG -3'

Posted On

2019-06-26