Mutagenetix > Incidental Mutation

Incidental Mutation 'R4050:Zfp324'

314105

Institutional Source

Beutler Lab

Gene Symbol

Zfp324

Ensembl Gene

ENSMUSG00000004500

Gene Name

zinc finger protein 324

Synonyms

D430030K24Rik, ZF5128

MMRRC Submission

040968-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.078) question?

Stock #

R4050 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

12965838-12974236 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 12970867 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 328 (F328L)

Ref Sequence

ENSEMBL: ENSMUSP00000041944 (fasta)

Gene Model

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

AlphaFold

Q78F42

Predicted Effect

probably damaging
Transcript: ENSMUST00000038701
AA Change: F328L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000041944
Gene: ENSMUSG00000004500
AA Change: F328L

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

probably benign
Transcript: ENSMUST00000128293

SMART Domains

Protein: ENSMUSP00000124620
Gene: ENSMUSG00000004500

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

Predicted Effect

probably benign
Transcript: ENSMUST00000210619

Meta Mutation Damage Score

0.8591

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.5%

Validation Efficiency

97% (58/60)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510039O18Rik	A	G	4: 147,944,992	D473G	probably damaging	Het
9530053A07Rik	T	C	7: 28,152,985	V1311A	possibly damaging	Het
Abca1	T	A	4: 53,044,144	Q1826L	probably damaging	Het
Apob	G	A	12: 8,015,390	V4087I	probably benign	Het
Atp10b	G	A	11: 43,259,536	A1354T	probably benign	Het
Baz1a	A	G	12: 54,929,619	V424A	probably benign	Het
Cdc20b	G	A	13: 113,064,285	D180N	probably benign	Het
Cep57l1	G	T	10: 41,729,360	R130S	probably damaging	Het
Ddb1	A	G	19: 10,627,807	D1053G	probably benign	Het
Ddx39	T	A	8: 83,722,234	M246K	probably benign	Het
Dip2a	G	A	10: 76,278,607	T1013M	probably damaging	Het
Edar	G	T	10: 58,609,947	T265N	possibly damaging	Het
Fam207a	T	C	10: 77,514,330	R75G	possibly damaging	Het
Fam208b	A	G	13: 3,573,507	S2148P	probably benign	Het
Gbp8	T	A	5: 105,031,238	I132F	probably damaging	Het
Gga1	A	G	15: 78,891,491	D382G	probably benign	Het
Ggps1	T	C	13: 14,053,699	K300E	probably benign	Het
Gm10518	C	A	1: 179,803,813		probably benign	Het
Gm13078	T	C	4: 143,727,122	S267P	probably benign	Het
Gm8074	G	A	9: 78,322,336		noncoding transcript	Het
H2-Eb1	T	A	17: 34,314,368	L188Q	probably damaging	Het
Heatr6	A	G	11: 83,755,773	S95G	probably damaging	Het
Hnf1a	T	A	5: 114,970,574	N91Y	probably damaging	Het
Ints10	C	T	8: 68,827,351	S710F	probably damaging	Het
Kazn	C	T	4: 142,106,904	E614K	unknown	Het
Kif26a	T	A	12: 112,179,916	M1812K	probably benign	Het
Lmo7	A	T	14: 101,902,277	K488*	probably null	Het
Mad1l1	A	G	5: 140,132,816	S457P	probably damaging	Het
Met	A	G	6: 17,533,984	T645A	probably benign	Het
Mpp4	T	C	1: 59,146,744		probably null	Het
Mycl	A	T	4: 122,996,839		probably null	Het
Ncbp1	G	A	4: 46,147,483	R110H	probably damaging	Het
Nfasc	G	T	1: 132,610,305		probably benign	Het
Nup35	A	G	2: 80,655,976	I212V	probably benign	Het
Olfr1181	A	G	2: 88,423,623	M134T	probably damaging	Het
Olfr1373	T	G	11: 52,145,134	Y132S	probably damaging	Het
Ovgp1	A	G	3: 105,986,596		probably benign	Het
Ovgp1	T	C	3: 105,986,567		probably benign	Het
Pcgf5	G	A	19: 36,442,911	S181N	probably damaging	Het
Plk2	C	T	13: 110,399,866	T617I	probably damaging	Het
Polq	A	T	16: 37,092,820		probably null	Het
Ppp1r1a	A	G	15: 103,532,454	L92P	probably damaging	Het
Prg4	G	C	1: 150,454,759		probably benign	Het
Prune1	T	C	3: 95,262,231	K220R	possibly damaging	Het
Rab3gap2	G	A	1: 185,272,643		probably null	Het
Rufy4	T	C	1: 74,147,663	C537R	probably damaging	Het
Sall3	G	A	18: 80,971,482	A1005V	probably benign	Het
Samd15	T	G	12: 87,200,632	N30K	probably benign	Het
Scn8a	A	T	15: 101,013,413	K905*	probably null	Het
Scrib	G	A	15: 76,051,473	R1245W	possibly damaging	Het
Skint4	C	T	4: 112,124,614	S260L	probably benign	Het
Slc29a2	A	T	19: 5,029,453	M339L	possibly damaging	Het
Spire1	G	T	18: 67,529,031		probably null	Het
Synpo2	T	C	3: 123,114,278	D463G	possibly damaging	Het
Taf4	C	A	2: 179,932,012	G688C	probably damaging	Het
Tpte	T	A	8: 22,365,984	V600E	probably damaging	Het
Ttn	A	G	2: 76,821,166	V10953A	probably benign	Het
Vav2	T	C	2: 27,288,679	Y333C	probably benign	Het
Vav2	A	G	2: 27,291,403	S311P	probably damaging	Het
Zbtb26	A	C	2: 37,436,988	M1R	probably null	Het
Zfp26	G	A	9: 20,442,229	P88L	probably benign	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
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
R7164:Zfp324	UTSW	7	12968883	missense	probably damaging	0.97
R7233:Zfp324	UTSW	7	12970597	nonsense	probably null
R9039:Zfp324	UTSW	7	12971528	missense	probably benign	0.19
R9172:Zfp324	UTSW	7	12970762	missense	probably damaging	1.00
X0062:Zfp324	UTSW	7	12971389	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATTCCAGATCTCCATGGGGC -3'
(R):5'- AAGGCCTTACCACACTCGTTG -3'

Sequencing Primer
(F):5'- TGTTACAGAGGCCCGGATATG -3'
(R):5'- CACACTCGTTGCAGTGGAATGAC -3'

Posted On

2015-04-30