Mutagenetix > Incidental Mutation

Incidental Mutation 'R3155:Zfp324'

263458

Institutional Source

Beutler Lab

Gene Symbol

Zfp324

Ensembl Gene

ENSMUSG00000004500

Gene Name

zinc finger protein 324

Synonyms

D430030K24Rik, ZF5128

MMRRC Submission

040606-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R3155 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

12699765-12707749 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 12702817 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 60 (M60I)

Ref Sequence

ENSEMBL: ENSMUSP00000124620 (fasta)

Gene Model

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

AlphaFold

Q78F42

Predicted Effect

probably damaging
Transcript: ENSMUST00000038701
AA Change: M60I

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000041944
Gene: ENSMUSG00000004500
AA Change: M60I

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 damaging
Transcript: ENSMUST00000128293
AA Change: M60I

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

SMART Domains

Protein: ENSMUSP00000124620
Gene: ENSMUSG00000004500
AA Change: M60I

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000210619
AA Change: M60I

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

Meta Mutation Damage Score

0.7120

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

100% (39/39)

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933407L21Rik	T	C	1: 85,859,104 (GRCm39)		probably benign	Het
Aco1	T	C	4: 40,182,915 (GRCm39)	V487A	probably damaging	Het
Adh1	A	G	3: 137,986,250 (GRCm39)	E79G	probably damaging	Het
Aebp1	A	G	11: 5,821,425 (GRCm39)	N608S	probably benign	Het
Ahctf1	G	A	1: 179,583,148 (GRCm39)	R43C	probably damaging	Het
Ahnak	A	T	19: 8,987,541 (GRCm39)	I2942L	possibly damaging	Het
Anxa9	A	T	3: 95,209,716 (GRCm39)	D134E	probably benign	Het
Ccdc14	A	G	16: 34,544,222 (GRCm39)	D860G	probably damaging	Het
Cdhr3	T	A	12: 33,099,152 (GRCm39)	I480F	possibly damaging	Het
Cldn34a	C	T	X: 151,346,840 (GRCm39)	H171Y	probably benign	Het
Cyp2d9	T	A	15: 82,336,843 (GRCm39)		probably null	Het
Dmbt1	T	A	7: 130,651,887 (GRCm39)	Y376*	probably null	Het
Fancm	T	C	12: 65,163,195 (GRCm39)	I1453T	probably benign	Het
Fbxw11	A	G	11: 32,689,244 (GRCm39)	I456V	possibly damaging	Het
Fut2	A	T	7: 45,300,091 (GRCm39)	L227Q	probably damaging	Het
Gbp5	T	C	3: 142,208,888 (GRCm39)		probably null	Het
Glrp1	C	A	1: 88,430,976 (GRCm39)	Q131H	unknown	Het
Gm6871	T	C	7: 41,223,079 (GRCm39)	N3S	probably benign	Het
H2-Eb1	C	A	17: 34,533,348 (GRCm39)	T190K	probably damaging	Het
Kdr	T	A	5: 76,129,065 (GRCm39)	I194F	probably benign	Het
Klhdc7a	A	G	4: 139,694,500 (GRCm39)	V149A	probably benign	Het
Lrit3	A	G	3: 129,585,044 (GRCm39)	F238S	probably benign	Het
Map10	A	T	8: 126,398,313 (GRCm39)	I569F	possibly damaging	Het
Myh6	A	G	14: 55,182,125 (GRCm39)	I1761T	probably damaging	Het
Npc1l1	A	C	11: 6,171,840 (GRCm39)	D874E	probably benign	Het
Or4k15c	T	C	14: 50,321,982 (GRCm39)	D52G	probably benign	Het
Or8c17	T	A	9: 38,179,836 (GRCm39)	M1K	probably null	Het
Pawr	A	G	10: 108,245,370 (GRCm39)	T193A	probably benign	Het
Ppp2r3d	T	C	9: 101,089,559 (GRCm39)	K255E	possibly damaging	Het
Rbp3	A	T	14: 33,679,071 (GRCm39)	K1006N	probably damaging	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Rin2	A	G	2: 145,702,771 (GRCm39)	K489R	probably benign	Het
Rlf	A	G	4: 121,006,529 (GRCm39)	V817A	probably damaging	Het
Rusc1	T	C	3: 88,999,038 (GRCm39)	D248G	probably benign	Het
Slc15a4	A	G	5: 127,681,600 (GRCm39)		probably null	Het
Stk4	T	A	2: 163,993,663 (GRCm39)	M98K	probably benign	Het
Taf15	T	A	11: 83,393,599 (GRCm39)	H307Q	probably benign	Het
Urgcp	A	T	11: 5,666,327 (GRCm39)	F670L	probably damaging	Het
Vmn2r76	T	C	7: 85,874,959 (GRCm39)	T673A	probably damaging	Het

Other mutations in Zfp324

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01109:Zfp324	APN	7	12,703,362 (GRCm39)	missense	probably benign	0.02
IGL01943:Zfp324	APN	7	12,702,713 (GRCm39)	splice site	probably benign
IGL02668:Zfp324	APN	7	12,704,773 (GRCm39)	missense	probably damaging	1.00
R0883:Zfp324	UTSW	7	12,704,951 (GRCm39)	missense	probably damaging	1.00
R0931:Zfp324	UTSW	7	12,700,185 (GRCm39)	missense	probably benign	0.05
R1164:Zfp324	UTSW	7	12,705,551 (GRCm39)	missense	probably benign	0.02
R1587:Zfp324	UTSW	7	12,704,570 (GRCm39)	missense	possibly damaging	0.63
R1837:Zfp324	UTSW	7	12,704,156 (GRCm39)	missense	probably benign	0.15
R1982:Zfp324	UTSW	7	12,705,145 (GRCm39)	missense	probably damaging	1.00
R2333:Zfp324	UTSW	7	12,705,172 (GRCm39)	missense	possibly damaging	0.93
R4050:Zfp324	UTSW	7	12,704,794 (GRCm39)	missense	probably damaging	1.00
R4784:Zfp324	UTSW	7	12,705,233 (GRCm39)	missense	probably damaging	1.00
R4992:Zfp324	UTSW	7	12,703,300 (GRCm39)	missense	probably benign	0.02
R5970:Zfp324	UTSW	7	12,703,293 (GRCm39)	missense	probably benign	0.28
R6767:Zfp324	UTSW	7	12,704,527 (GRCm39)	missense	probably null	0.13
R7007:Zfp324	UTSW	7	12,705,142 (GRCm39)	missense	probably damaging	1.00
R7152:Zfp324	UTSW	7	12,700,198 (GRCm39)	missense	probably benign	0.07
R7164:Zfp324	UTSW	7	12,702,810 (GRCm39)	missense	probably damaging	0.97
R7233:Zfp324	UTSW	7	12,704,524 (GRCm39)	nonsense	probably null
R9039:Zfp324	UTSW	7	12,705,455 (GRCm39)	missense	probably benign	0.19
R9172:Zfp324	UTSW	7	12,704,689 (GRCm39)	missense	probably damaging	1.00
X0062:Zfp324	UTSW	7	12,705,316 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAGCATCTCCATTAATAGGGAACAGG -3'
(R):5'- CCCCAGGGATACAGGAAATG -3'

Sequencing Primer
(F):5'- GGTTCCTACCTCACTCAGCCATC -3'
(R):5'- TCAGACTATATGTGTCCAGGGCAC -3'

Posted On

2015-02-05