Mutagenetix > Incidental Mutation

Incidental Mutation 'R3790:Zfp943'

272509

Institutional Source

Beutler Lab

Gene Symbol

Zfp943

Ensembl Gene

ENSMUSG00000053347

Gene Name

zinc finger prtoein 943

Synonyms

4930432O21Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.250) question?

Stock #

R3790 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

22181540-22213347 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 22211403 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 163 (D163G)

Ref Sequence

ENSEMBL: ENSMUSP00000059554 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055349] [ENSMUST00000153985] [ENSMUST00000174015]

AlphaFold

Q6NZP4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000055349
AA Change: D163G

PolyPhen 2 Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000059554
Gene: ENSMUSG00000053347
AA Change: D163G

Domain	Start	End	E-Value	Type
KRAB	13	72	2.62e-18	SMART
ZnF_C2H2	180	202	1.6e-4	SMART
ZnF_C2H2	208	230	1.38e-3	SMART
ZnF_C2H2	236	258	1.13e-4	SMART
ZnF_C2H2	264	286	1.03e-2	SMART
ZnF_C2H2	292	314	2.24e-3	SMART
ZnF_C2H2	320	342	9.58e-3	SMART
ZnF_C2H2	348	370	5.67e-5	SMART
ZnF_C2H2	376	398	4.54e-4	SMART
ZnF_C2H2	404	426	2.15e-5	SMART
ZnF_C2H2	432	454	5.59e-4	SMART
ZnF_C2H2	460	482	3.34e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000153985

SMART Domains

Protein: ENSMUSP00000115817
Gene: ENSMUSG00000053347

Domain	Start	End	E-Value	Type
KRAB	13	73	3.51e-19	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000174015

SMART Domains

Protein: ENSMUSP00000133735
Gene: ENSMUSG00000053347

Domain	Start	End	E-Value	Type
KRAB	13	60	3.79e-15	SMART

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

98% (47/48)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acat3	G	A	17: 13,147,460 (GRCm39)	Q186*	probably null	Het
Alk	A	G	17: 72,910,427 (GRCm39)	L93P	possibly damaging	Het
Ankrd24	C	T	10: 81,478,513 (GRCm39)		probably benign	Het
Anks6	A	T	4: 47,049,212 (GRCm39)	V231E	probably damaging	Het
Ap5z1	C	T	5: 142,456,168 (GRCm39)	S329L	probably benign	Het
Asic4	C	A	1: 75,446,485 (GRCm39)		probably benign	Het
Cemip2	T	G	19: 21,784,816 (GRCm39)	I433S	probably damaging	Het
Cers4	C	A	8: 4,568,285 (GRCm39)	Q113K	possibly damaging	Het
Ces3b	A	T	8: 105,813,520 (GRCm39)	I264F	possibly damaging	Het
Cops3	T	C	11: 59,718,797 (GRCm39)	M166V	probably benign	Het
Corin	T	C	5: 72,592,641 (GRCm39)	Q184R	probably benign	Het
Dnah8	G	A	17: 31,073,872 (GRCm39)	R4514H	probably damaging	Het
Drosha	T	A	15: 12,912,623 (GRCm39)	Y1080*	probably null	Het
Gm53	T	C	11: 96,142,477 (GRCm39)		noncoding transcript	Het
Hmcn1	A	G	1: 150,498,745 (GRCm39)	S4045P	probably benign	Het
Kif22	A	G	7: 126,628,668 (GRCm39)	L480P	probably damaging	Het
Lepr	A	T	4: 101,648,111 (GRCm39)		probably benign	Het
Lnpk	A	T	2: 74,352,607 (GRCm39)	S358R	probably benign	Het
Lnx1	A	G	5: 74,789,027 (GRCm39)		probably benign	Het
Lrsam1	T	C	2: 32,848,171 (GRCm39)	E43G	probably null	Het
Mug1	G	A	6: 121,861,587 (GRCm39)	V1350I	probably benign	Het
Nbea	T	A	3: 55,912,450 (GRCm39)	E1112D	probably benign	Het
Nepn	T	A	10: 52,276,626 (GRCm39)	L60I	probably damaging	Het
Oas1e	T	C	5: 120,933,475 (GRCm39)	E30G	probably damaging	Het
Or4c122	A	G	2: 89,079,337 (GRCm39)	F234L	probably benign	Het
Or4k5	A	C	14: 50,386,026 (GRCm39)	F102V	possibly damaging	Het
Pou2f1	G	C	1: 165,722,538 (GRCm39)	P349R	probably damaging	Het
Prmt8	A	T	6: 127,688,110 (GRCm39)	I236N	probably damaging	Het
Psg23	C	A	7: 18,346,126 (GRCm39)	V190L	probably benign	Het
Psg29	A	G	7: 16,938,950 (GRCm39)	K75E	possibly damaging	Het
Ranbp17	GCCTGGATACTGACC	GCC	11: 33,169,203 (GRCm39)		probably benign	Het
Rgs4	A	G	1: 169,571,991 (GRCm39)	S103P	probably damaging	Het
Sis	T	C	3: 72,828,747 (GRCm39)	Y1144C	probably damaging	Het
Slc16a14	T	C	1: 84,907,001 (GRCm39)		probably benign	Het
Snrnp35	T	A	5: 124,628,248 (GRCm39)	D20E	probably damaging	Het
Syce1l	C	A	8: 114,369,897 (GRCm39)	A10E	possibly damaging	Het
Tdp1	A	G	12: 99,858,011 (GRCm39)		probably benign	Het
Tmem212	T	C	3: 27,940,594 (GRCm39)		probably null	Het
Tomm20l	C	T	12: 71,158,516 (GRCm39)	A58V	possibly damaging	Het
Ttn	C	A	2: 76,568,471 (GRCm39)	C27474F	probably damaging	Het
Ttn	A	G	2: 76,804,552 (GRCm39)	V240A	probably benign	Het
Vars1	A	G	17: 35,218,310 (GRCm39)	V48A	probably benign	Het
Vmn2r1	T	C	3: 63,994,185 (GRCm39)		probably null	Het
Washc2	A	G	6: 116,224,933 (GRCm39)		probably benign	Het
Zmym5	T	C	14: 57,031,230 (GRCm39)	Y626C	probably damaging	Het

Other mutations in Zfp943

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03101:Zfp943	APN	17	22,211,156 (GRCm39)	missense	probably damaging	1.00
R0019:Zfp943	UTSW	17	22,211,070 (GRCm39)	intron	probably benign
R0827:Zfp943	UTSW	17	22,211,071 (GRCm39)	critical splice acceptor site	probably null
R1824:Zfp943	UTSW	17	22,211,361 (GRCm39)	missense	probably benign	0.32
R1958:Zfp943	UTSW	17	22,211,979 (GRCm39)	missense	probably damaging	0.99
R2174:Zfp943	UTSW	17	22,211,804 (GRCm39)	missense	probably damaging	1.00
R4093:Zfp943	UTSW	17	22,211,963 (GRCm39)	missense	probably damaging	1.00
R4094:Zfp943	UTSW	17	22,211,963 (GRCm39)	missense	probably damaging	1.00
R4352:Zfp943	UTSW	17	22,212,104 (GRCm39)	missense	probably damaging	0.98
R4677:Zfp943	UTSW	17	22,212,176 (GRCm39)	missense	probably benign	0.17
R4735:Zfp943	UTSW	17	22,211,391 (GRCm39)	missense	probably benign	0.03
R5201:Zfp943	UTSW	17	22,211,794 (GRCm39)	missense	probably damaging	1.00
R5492:Zfp943	UTSW	17	22,212,056 (GRCm39)	missense	probably damaging	1.00
R5642:Zfp943	UTSW	17	22,211,813 (GRCm39)	missense	probably damaging	1.00
R6031:Zfp943	UTSW	17	22,212,357 (GRCm39)	missense	probably benign
R6031:Zfp943	UTSW	17	22,212,357 (GRCm39)	missense	probably benign
R6667:Zfp943	UTSW	17	22,211,889 (GRCm39)	missense	probably damaging	1.00
R6864:Zfp943	UTSW	17	22,211,593 (GRCm39)	missense	probably damaging	1.00
R6976:Zfp943	UTSW	17	22,209,922 (GRCm39)	missense	possibly damaging	0.47
R7837:Zfp943	UTSW	17	22,211,346 (GRCm39)	missense	probably benign	0.39
R7934:Zfp943	UTSW	17	22,212,361 (GRCm39)	missense	probably damaging	0.97
R8302:Zfp943	UTSW	17	22,211,091 (GRCm39)	missense	probably benign	0.18
R8323:Zfp943	UTSW	17	22,211,763 (GRCm39)	missense	possibly damaging	0.95
R9025:Zfp943	UTSW	17	22,211,321 (GRCm39)	missense	possibly damaging	0.67
R9101:Zfp943	UTSW	17	22,212,392 (GRCm39)	missense	possibly damaging	0.83
R9279:Zfp943	UTSW	17	22,209,832 (GRCm39)	missense	possibly damaging	0.89
R9640:Zfp943	UTSW	17	22,209,899 (GRCm39)	missense	probably damaging	0.99
Z1176:Zfp943	UTSW	17	22,211,946 (GRCm39)	missense	probably damaging	1.00
Z1177:Zfp943	UTSW	17	22,207,063 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCCACGAGCATATGAATCTCCAG -3'
(R):5'- TTGCGGGTAAAGCATTTGTC -3'

Sequencing Primer
(F):5'- CAAAGTACATCTTACAGAGCTAGTC -3'
(R):5'- GCGGGTAAAGCATTTGTCACATTTAC -3'

Posted On

2015-03-25