Mutagenetix > Incidental Mutation

Incidental Mutation 'R6963:Zfp326'

543324

Institutional Source

Beutler Lab

Gene Symbol

Zfp326

Ensembl Gene

ENSMUSG00000029290

Gene Name

zinc finger protein 326

Synonyms

5730470H14Rik, ZAN75

MMRRC Submission

045073-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.431) question?

Stock #

R6963 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

106024431-106063684 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 106059359 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 373 (Y373*)

Ref Sequence

ENSEMBL: ENSMUSP00000118976 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031227] [ENSMUST00000138615] [ENSMUST00000150440]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000031227
AA Change: Y462*

SMART Domains

Protein: ENSMUSP00000031227
Gene: ENSMUSG00000029290
AA Change: Y462*

Domain	Start	End	E-Value	Type
internal_repeat_1	19	39	1.09e-7	PROSPERO
internal_repeat_1	31	58	1.09e-7	PROSPERO
low complexity region	63	69	N/A	INTRINSIC
low complexity region	154	162	N/A	INTRINSIC
low complexity region	194	205	N/A	INTRINSIC
coiled coil region	277	304	N/A	INTRINSIC
ZnF_C2H2	312	336	4.12e0	SMART
ZnF_C2H2	405	430	1.78e2	SMART
low complexity region	483	561	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000138615

Predicted Effect

probably null
Transcript: ENSMUST00000150440
AA Change: Y373*

SMART Domains

Protein: ENSMUSP00000118976
Gene: ENSMUSG00000029290
AA Change: Y373*

Domain	Start	End	E-Value	Type
internal_repeat_1	19	39	2.38e-7	PROSPERO
internal_repeat_1	31	58	2.38e-7	PROSPERO
low complexity region	63	73	N/A	INTRINSIC
low complexity region	105	116	N/A	INTRINSIC
coiled coil region	188	215	N/A	INTRINSIC
ZnF_C2H2	223	247	4.12e0	SMART
ZnF_C2H2	316	341	1.78e2	SMART
low complexity region	389	415	N/A	INTRINSIC

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.5%

Validation Efficiency

100% (41/41)

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	G	A	5: 77,044,303 (GRCm39)	H196Y	probably damaging	Het
Abi3	G	A	11: 95,723,567 (GRCm39)		probably benign	Het
Adgrb2	CG	C	4: 129,908,155 (GRCm39)		probably null	Het
Asgr1	T	C	11: 69,946,794 (GRCm39)		probably null	Het
Atp2c2	C	T	8: 120,457,006 (GRCm39)	R203*	probably null	Het
Brms1	T	A	19: 5,096,681 (GRCm39)	I121N	probably damaging	Het
Ccdc149	G	A	5: 52,596,439 (GRCm39)	R58W	probably damaging	Het
D630003M21Rik	T	C	2: 158,042,228 (GRCm39)	E906G	probably benign	Het
Enpp5	G	A	17: 44,396,155 (GRCm39)	G356S	probably damaging	Het
Fry	A	G	5: 150,381,309 (GRCm39)	T444A	probably benign	Het
Ggn	A	G	7: 28,871,007 (GRCm39)	E142G	probably damaging	Het
Gm5150	A	G	3: 16,060,555 (GRCm39)		probably benign	Het
Gm57858	A	G	3: 36,104,811 (GRCm39)	Y17H	probably benign	Het
Gp2	A	G	7: 119,052,120 (GRCm39)	V198A	probably benign	Het
Gstm3	A	G	3: 107,874,940 (GRCm39)	V104A	probably benign	Het
Idua	A	G	5: 108,827,641 (GRCm39)	K152E	possibly damaging	Het
Igsf21	A	G	4: 139,755,041 (GRCm39)	S443P	probably benign	Het
Kdm5d	C	A	Y: 937,975 (GRCm39)	Q925K	probably benign	Het
Ly6k	G	C	15: 74,670,431 (GRCm39)	P37R	probably damaging	Het
Mcm9	A	G	10: 53,424,713 (GRCm39)	S626P	probably damaging	Het
Mcoln2	A	G	3: 145,877,790 (GRCm39)	K137R	probably damaging	Het
Mctp2	T	C	7: 71,877,804 (GRCm39)	N298S	probably damaging	Het
Myo10	T	C	15: 25,734,149 (GRCm39)	I379T	probably benign	Het
Myo15b	G	T	11: 115,781,540 (GRCm39)		probably null	Het
Nrg1	A	G	8: 32,407,690 (GRCm39)	F181S	probably benign	Het
Or5b24	C	T	19: 12,913,002 (GRCm39)	A300V	probably damaging	Het
Pals2	T	C	6: 50,140,635 (GRCm39)		probably null	Het
Pde9a	G	T	17: 31,662,861 (GRCm39)	V97L	probably benign	Het
Rfc5	T	A	5: 117,525,931 (GRCm39)		probably null	Het
Rnf145	T	C	11: 44,455,104 (GRCm39)	S662P	probably benign	Het
Rsf1	G	A	7: 97,229,117 (GRCm39)		probably benign	Het
Scfd2	A	G	5: 74,642,870 (GRCm39)	V359A	probably damaging	Het
Skp2	T	C	15: 9,139,515 (GRCm39)		probably null	Het
St3gal1	A	G	15: 66,983,195 (GRCm39)	V187A	possibly damaging	Het
Tekt2	T	C	4: 126,218,110 (GRCm39)	E134G	probably damaging	Het
Ttll4	T	A	1: 74,720,975 (GRCm39)	I547K	probably damaging	Het
Vmn1r4	T	C	6: 56,933,769 (GRCm39)	I91T	probably damaging	Het
Vmn2r93	T	C	17: 18,536,849 (GRCm39)	S511P	probably damaging	Het
Vps50	T	C	6: 3,592,577 (GRCm39)		probably null	Het
Zeb2	T	G	2: 44,878,811 (GRCm39)	E1141A	probably damaging	Het
Zfp1002	A	G	2: 150,097,265 (GRCm39)	C55R	probably damaging	Het

Other mutations in Zfp326

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00158:Zfp326	APN	5	106,054,911 (GRCm39)	missense	possibly damaging	0.89
IGL00432:Zfp326	APN	5	106,044,399 (GRCm39)	missense	probably damaging	0.98
IGL01551:Zfp326	APN	5	106,036,451 (GRCm39)	missense	probably damaging	1.00
IGL03197:Zfp326	APN	5	106,039,059 (GRCm39)	missense	probably benign	0.00
PIT4508001:Zfp326	UTSW	5	106,062,556 (GRCm39)	missense	probably benign	0.02
R0326:Zfp326	UTSW	5	106,058,141 (GRCm39)	missense	probably damaging	1.00
R0411:Zfp326	UTSW	5	106,026,641 (GRCm39)	missense	possibly damaging	0.81
R0634:Zfp326	UTSW	5	106,034,069 (GRCm39)	nonsense	probably null
R0850:Zfp326	UTSW	5	106,026,663 (GRCm39)	splice site	probably null
R1833:Zfp326	UTSW	5	106,039,035 (GRCm39)	nonsense	probably null
R2108:Zfp326	UTSW	5	106,062,646 (GRCm39)	utr 3 prime	probably benign
R2857:Zfp326	UTSW	5	106,036,395 (GRCm39)	missense	probably benign	0.11
R3702:Zfp326	UTSW	5	106,036,709 (GRCm39)	splice site	probably null
R4690:Zfp326	UTSW	5	106,054,942 (GRCm39)	missense	probably damaging	1.00
R5614:Zfp326	UTSW	5	106,036,361 (GRCm39)	missense	probably damaging	1.00
R6212:Zfp326	UTSW	5	106,058,097 (GRCm39)	missense	probably damaging	1.00
R6262:Zfp326	UTSW	5	106,036,353 (GRCm39)	missense	probably damaging	1.00
R6274:Zfp326	UTSW	5	106,053,846 (GRCm39)	missense	probably damaging	1.00
R6439:Zfp326	UTSW	5	106,036,584 (GRCm39)	missense	probably null	0.69
R8073:Zfp326	UTSW	5	106,062,682 (GRCm39)	missense	unknown
R8496:Zfp326	UTSW	5	106,036,451 (GRCm39)	missense	probably damaging	1.00
R9781:Zfp326	UTSW	5	106,062,825 (GRCm39)	missense	unknown
Z1088:Zfp326	UTSW	5	106,036,496 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTTAATGGTCTCAATCCACGAATC -3'
(R):5'- TGATCCTCTCACACACTGACTTAG -3'

Sequencing Primer
(F):5'- GTCATCTAAGTAAAGGAGTTTGAGTG -3'
(R):5'- CTTAGAGTCAGAAGGGGAGGAGAC -3'

Posted On

2018-11-28