Mutagenetix > Incidental Mutation

Incidental Mutation 'R0371:Zfp345'

30459

Institutional Source

Beutler Lab

Gene Symbol

Zfp345

Ensembl Gene

ENSMUSG00000074731

Gene Name

zinc finger protein 345

Synonyms

OTTMUSG00000015743

MMRRC Submission

038577-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.172) question?

Stock #

R0371 (G1)

Quality Score

173

Status

Validated

Chromosome

Chromosomal Location

150312911-150326983 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 150313983 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Asparagine at position 518 (T518N)

Ref Sequence

ENSEMBL: ENSMUSP00000105540 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000109914]

AlphaFold

A2AQA1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000109914
AA Change: T518N

PolyPhen 2 Score 0.814 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000105540
Gene: ENSMUSG00000074731
AA Change: T518N

Domain	Start	End	E-Value	Type
KRAB	4	66	9.5e-20	SMART
ZnF_C2H2	103	125	2e-2	SMART
ZnF_C2H2	131	153	2.9e-6	SMART
ZnF_C2H2	159	181	4.1e-3	SMART
ZnF_C2H2	215	237	2.6e-7	SMART
ZnF_C2H2	243	265	1.6e-5	SMART
ZnF_C2H2	271	293	4e-7	SMART
ZnF_C2H2	299	321	1.1e-5	SMART
ZnF_C2H2	327	349	5.9e-7	SMART
ZnF_C2H2	365	387	4.4e-7	SMART
ZnF_C2H2	393	415	7.3e-6	SMART
ZnF_C2H2	421	443	2.7e-5	SMART
ZnF_C2H2	449	471	1.5e-4	SMART
ZnF_C2H2	477	499	1.3e-5	SMART
ZnF_C2H2	505	527	5.1e-6	SMART
ZnF_C2H2	533	555	9.2e-7	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000117906

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.6%
20x: 90.6%

Validation Efficiency

99% (67/68)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy9	G	A	16: 4,105,911 (GRCm39)	R1068C	probably benign	Het
Afmid	C	T	11: 117,725,966 (GRCm39)		probably benign	Het
Aqr	A	G	2: 113,988,085 (GRCm39)	V159A	possibly damaging	Het
Atp6v0d2	G	C	4: 19,880,033 (GRCm39)	T288R	possibly damaging	Het
Btnl1	T	C	17: 34,600,031 (GRCm39)	V178A	probably damaging	Het
Ccdc110	T	A	8: 46,395,843 (GRCm39)	M578K	possibly damaging	Het
Ccdc38	G	T	10: 93,398,674 (GRCm39)	E51*	probably null	Het
Cep290	T	A	10: 100,354,426 (GRCm39)		probably benign	Het
Cilp2	T	C	8: 70,334,256 (GRCm39)	E914G	probably damaging	Het
Col6a2	T	C	10: 76,450,307 (GRCm39)	N208S	probably benign	Het
Ctrb1	T	A	8: 112,413,783 (GRCm39)	I194F	probably benign	Het
Cyp4a12a	C	G	4: 115,183,880 (GRCm39)	R229G	probably damaging	Het
Dach1	C	T	14: 98,207,339 (GRCm39)	V337M	probably damaging	Het
Dcbld2	A	G	16: 58,271,186 (GRCm39)	N321S	probably benign	Het
Enpep	C	T	3: 129,077,516 (GRCm39)		probably null	Het
Fat1	T	C	8: 45,404,929 (GRCm39)	L560P	probably damaging	Het
Fdxr	T	C	11: 115,166,915 (GRCm39)	H58R	possibly damaging	Het
Filip1	G	T	9: 79,767,373 (GRCm39)	P147T	probably damaging	Het
Fras1	G	A	5: 96,703,190 (GRCm39)	E318K	possibly damaging	Het
Grk2	T	C	19: 4,341,614 (GRCm39)		probably null	Het
Gvin-ps6	A	T	7: 106,021,986 (GRCm39)	C339S	unknown	Het
Havcr1	T	C	11: 46,643,416 (GRCm39)	I112T	possibly damaging	Het
Hjurp	G	A	1: 88,205,090 (GRCm39)		probably benign	Het
Ildr2	G	A	1: 166,131,133 (GRCm39)	V330I	probably damaging	Het
Ino80d	T	C	1: 63,097,115 (GRCm39)		probably benign	Het
Iqsec1	A	G	6: 90,647,385 (GRCm39)		probably benign	Het
Irf2bpl	C	T	12: 86,928,417 (GRCm39)	W752*	probably null	Het
Kdr	T	A	5: 76,102,494 (GRCm39)	H1211L	probably benign	Het
Klri2	A	G	6: 129,709,106 (GRCm39)	*249R	probably null	Het
Ktn1	A	T	14: 47,961,460 (GRCm39)	K1054*	probably null	Het
Lactb2	A	G	1: 13,720,984 (GRCm39)	S83P	possibly damaging	Het
Lrrc3b	A	T	14: 15,358,560 (GRCm38)	C15*	probably null	Het
Mrs2	T	C	13: 25,177,078 (GRCm39)	I430V	probably benign	Het
Myo3b	C	T	2: 70,083,304 (GRCm39)		probably benign	Het
Nbas	C	T	12: 13,381,096 (GRCm39)	T696I	probably damaging	Het
Nsun6	T	C	2: 15,034,898 (GRCm39)	D240G	probably damaging	Het
Nup107	T	C	10: 117,599,674 (GRCm39)	E615G	probably damaging	Het
Or2a25	A	T	6: 42,888,872 (GRCm39)	R138S	probably benign	Het
Or3a1d	T	A	11: 74,237,760 (GRCm39)	I217F	probably damaging	Het
Or4k77	A	T	2: 111,199,498 (GRCm39)	I174L	probably benign	Het
Or5ac23	A	G	16: 59,149,585 (GRCm39)	C96R	possibly damaging	Het
Pabpc1l	G	A	2: 163,877,192 (GRCm39)	V256M	probably benign	Het
Sf3b2	C	T	19: 5,324,852 (GRCm39)	D845N	probably damaging	Het
Sik1	T	C	17: 32,067,958 (GRCm39)	D409G	probably benign	Het
Slc22a22	A	T	15: 57,113,131 (GRCm39)	D369E	possibly damaging	Het
Smg1	T	A	7: 117,767,523 (GRCm39)		probably benign	Het
Snap29	C	A	16: 17,224,067 (GRCm39)	D27E	probably benign	Het
Snrnp40	C	G	4: 130,271,836 (GRCm39)		probably null	Het
Sorcs3	A	G	19: 48,592,333 (GRCm39)	I333V	probably benign	Het
Spag7	A	G	11: 70,555,622 (GRCm39)	M105T	probably damaging	Het
Srgap3	A	T	6: 112,748,432 (GRCm39)	S407T	probably damaging	Het
Supt6	T	C	11: 78,113,983 (GRCm39)	N854S	probably benign	Het
Syne2	T	C	12: 75,980,619 (GRCm39)	S1460P	probably damaging	Het
Taok3	C	T	5: 117,344,752 (GRCm39)	Q160*	probably null	Het
Tchhl1	C	A	3: 93,376,884 (GRCm39)	A27E	probably damaging	Het
Tet1	T	C	10: 62,714,178 (GRCm39)	D539G	probably damaging	Het
Tut1	T	C	19: 8,940,137 (GRCm39)	F374L	probably damaging	Het
Unc5c	C	T	3: 141,533,283 (GRCm39)	P770S	probably benign	Het
Vmn2r101	T	A	17: 19,810,394 (GRCm39)	N393K	probably benign	Het
Vmn2r94	T	A	17: 18,477,556 (GRCm39)	H285L	probably benign	Het
Wdr62	G	A	7: 29,941,583 (GRCm39)	S700L	possibly damaging	Het
Wscd1	A	G	11: 71,679,549 (GRCm39)	D474G	probably damaging	Het
Zcchc7	A	G	4: 44,762,190 (GRCm39)	N106S	probably damaging	Het
Zfp648	A	T	1: 154,080,413 (GRCm39)	S191C	possibly damaging	Het
Zkscan8	C	T	13: 21,710,844 (GRCm39)	E89K	probably damaging	Het

Other mutations in Zfp345

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00833:Zfp345	APN	2	150,314,649 (GRCm39)	missense	probably damaging	1.00
IGL00846:Zfp345	APN	2	150,314,538 (GRCm39)	missense	possibly damaging	0.76
IGL01020:Zfp345	APN	2	150,314,967 (GRCm39)	missense	possibly damaging	0.68
IGL01931:Zfp345	APN	2	150,315,270 (GRCm39)	missense	probably benign	0.38
IGL02237:Zfp345	APN	2	150,316,805 (GRCm39)	splice site	probably benign
IGL02335:Zfp345	APN	2	150,316,463 (GRCm39)	missense	possibly damaging	0.92
IGL02592:Zfp345	APN	2	150,315,229 (GRCm39)	missense	probably benign	0.36
IGL02736:Zfp345	APN	2	150,316,474 (GRCm39)	missense	probably damaging	0.99
R0095:Zfp345	UTSW	2	150,314,220 (GRCm39)	missense	probably damaging	1.00
R0096:Zfp345	UTSW	2	150,314,220 (GRCm39)	missense	probably damaging	1.00
R0143:Zfp345	UTSW	2	150,314,475 (GRCm39)	missense	probably benign
R0412:Zfp345	UTSW	2	150,315,323 (GRCm39)	missense	probably benign	0.00
R0415:Zfp345	UTSW	2	150,316,479 (GRCm39)	splice site	probably benign
R0420:Zfp345	UTSW	2	150,315,163 (GRCm39)	missense	possibly damaging	0.74
R0697:Zfp345	UTSW	2	150,314,829 (GRCm39)	missense	probably benign	0.13
R0799:Zfp345	UTSW	2	150,314,271 (GRCm39)	missense	probably benign	0.27
R1881:Zfp345	UTSW	2	150,314,275 (GRCm39)	missense	probably damaging	1.00
R1954:Zfp345	UTSW	2	150,316,741 (GRCm39)	missense	probably damaging	1.00
R2004:Zfp345	UTSW	2	150,314,038 (GRCm39)	missense	possibly damaging	0.90
R2152:Zfp345	UTSW	2	150,314,578 (GRCm39)	missense	probably benign	0.00
R2153:Zfp345	UTSW	2	150,314,578 (GRCm39)	missense	probably benign	0.00
R3051:Zfp345	UTSW	2	150,316,772 (GRCm39)	missense	probably benign	0.07
R3880:Zfp345	UTSW	2	150,314,075 (GRCm39)	missense	possibly damaging	0.91
R3939:Zfp345	UTSW	2	150,314,473 (GRCm39)	missense	probably damaging	1.00
R4801:Zfp345	UTSW	2	150,315,228 (GRCm39)	missense	possibly damaging	0.91
R4802:Zfp345	UTSW	2	150,315,228 (GRCm39)	missense	possibly damaging	0.91
R4897:Zfp345	UTSW	2	150,314,608 (GRCm39)	missense	probably benign	0.05
R5606:Zfp345	UTSW	2	150,316,788 (GRCm39)	nonsense	probably null
R6009:Zfp345	UTSW	2	150,314,437 (GRCm39)	missense	probably damaging	1.00
R6191:Zfp345	UTSW	2	150,315,010 (GRCm39)	missense	probably benign	0.11
R6194:Zfp345	UTSW	2	150,314,551 (GRCm39)	missense	probably damaging	1.00
R6782:Zfp345	UTSW	2	150,315,274 (GRCm39)	missense	probably damaging	0.97
R6932:Zfp345	UTSW	2	150,315,331 (GRCm39)	missense	probably damaging	0.99
R7356:Zfp345	UTSW	2	150,314,209 (GRCm39)	missense	probably damaging	1.00
R7980:Zfp345	UTSW	2	150,314,723 (GRCm39)	nonsense	probably null
R8387:Zfp345	UTSW	2	150,314,740 (GRCm39)	missense	probably damaging	0.96
R8515:Zfp345	UTSW	2	150,314,348 (GRCm39)	missense	probably benign	0.01
R8940:Zfp345	UTSW	2	150,314,277 (GRCm39)	missense	probably benign	0.40
R9038:Zfp345	UTSW	2	150,313,864 (GRCm39)	missense	probably benign	0.02
R9383:Zfp345	UTSW	2	150,314,503 (GRCm39)	missense	possibly damaging	0.89
R9480:Zfp345	UTSW	2	150,315,212 (GRCm39)	nonsense	probably null
R9723:Zfp345	UTSW	2	150,314,189 (GRCm39)	nonsense	probably null

Predicted Primers

Posted On

2013-04-24