Mutagenetix > Incidental Mutation

Incidental Mutation 'R6667:Zfp943'

527043

Institutional Source

Beutler Lab

Gene Symbol

Zfp943

Ensembl Gene

ENSMUSG00000053347

Gene Name

zinc finger prtoein 943

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.284) question?

Stock #

R6667 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

21962552-22071168 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 21992908 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 325 (C325Y)

Ref Sequence

ENSEMBL: ENSMUSP00000059554 (fasta)

Gene Model

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

AlphaFold

Q6NZP4

Predicted Effect

probably damaging
Transcript: ENSMUST00000055349
AA Change: C325Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000059554
Gene: ENSMUSG00000053347
AA Change: C325Y

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

0.6467

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.6%

Validation Efficiency

98% (41/42)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3100002H09Rik	G	T	4: 124,610,642	A39E	probably damaging	Het
Agtr1b	T	A	3: 20,315,749	N231I	possibly damaging	Het
Alpk2	T	C	18: 65,307,740	E661G	probably damaging	Het
Ankrd26	C	T	6: 118,507,788	S1496N	probably benign	Het
Asah2	T	C	19: 31,995,358	N659S	probably benign	Het
Atp12a	T	C	14: 56,384,188	V760A	possibly damaging	Het
Casp2	T	C	6: 42,279,836	C343R	probably damaging	Het
Cblb	T	A	16: 52,152,644	M446K	possibly damaging	Het
Cipc	T	C	12: 86,962,090	V241A	probably benign	Het
Ddit4l	A	G	3: 137,626,121	K83E	probably benign	Het
E430018J23Rik	A	G	7: 127,393,423	M5T	probably benign	Het
Epc2	A	G	2: 49,522,669	T220A	probably damaging	Het
Epha5	T	C	5: 84,071,191	D741G	probably damaging	Het
Flg2	A	T	3: 93,201,761	R365S	possibly damaging	Het
Ggn	A	T	7: 29,172,668	H491L	possibly damaging	Het
Gm21119	T	C	8: 20,621,939	S267P	probably benign	Het
Gm8332	A	T	12: 88,249,705	D132E	unknown	Het
Gpat2	G	C	2: 127,431,918	G294R	possibly damaging	Het
Ighv6-4	A	G	12: 114,406,532	V100A	probably benign	Het
Invs	A	T	4: 48,402,870	Y501F	possibly damaging	Het
Iqcm	G	T	8: 75,753,352	G313W	probably damaging	Het
Jph2	A	G	2: 163,376,286	S157P	probably damaging	Het
Mast4	T	C	13: 102,737,496	E1596G	probably damaging	Het
Mllt6	T	A	11: 97,676,934	L759Q	probably damaging	Het
Nalcn	A	G	14: 123,321,323	L837P	probably damaging	Het
Neb	G	A	2: 52,147,189	T6836I	probably damaging	Het
Nol12	T	A	15: 78,940,080	D133E	probably benign	Het
Olfr1136	A	G	2: 87,693,570	V104A	probably benign	Het
Oxtr	C	A	6: 112,477,099		probably benign	Het
Pcmt1	A	G	10: 7,663,149	L38P	probably damaging	Het
Pik3r2	T	C	8: 70,769,173	Y617C	probably damaging	Het
Prl7a2	T	C	13: 27,661,041	N121D	probably benign	Het
Pvr	G	T	7: 19,905,802	Q380K	probably benign	Het
Rtn2	A	G	7: 19,287,259	E188G	probably benign	Het
Setd4	C	A	16: 93,590,030	R260L	probably benign	Het
Six5	A	G	7: 19,096,569	N374D	probably benign	Het
Slc9b1	T	C	3: 135,371,965	I140T	probably damaging	Het
Supt16	A	G	14: 52,172,063	F797L	probably damaging	Het
Tbata	T	C	10: 61,185,363	L262P	probably damaging	Het
Tti1	A	T	2: 158,008,427	C297*	probably null	Het
Ush1c	C	A	7: 46,225,624	G139C	probably damaging	Het
Vmn1r1	C	T	1: 182,157,777	V108I	probably benign	Het
Vmn2r116	C	T	17: 23,401,092	T600I	probably damaging	Het
Zfp873	A	G	10: 82,060,589	T422A	probably benign	Het

Other mutations in Zfp943

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03101:Zfp943	APN	17	21992175	missense	probably damaging	1.00
R0019:Zfp943	UTSW	17	21992089	intron	probably benign
R0827:Zfp943	UTSW	17	21992090	critical splice acceptor site	probably null
R1824:Zfp943	UTSW	17	21992380	missense	probably benign	0.32
R1958:Zfp943	UTSW	17	21992998	missense	probably damaging	0.99
R2174:Zfp943	UTSW	17	21992823	missense	probably damaging	1.00
R3790:Zfp943	UTSW	17	21992422	missense	possibly damaging	0.81
R4093:Zfp943	UTSW	17	21992982	missense	probably damaging	1.00
R4094:Zfp943	UTSW	17	21992982	missense	probably damaging	1.00
R4352:Zfp943	UTSW	17	21993123	missense	probably damaging	0.98
R4677:Zfp943	UTSW	17	21993195	missense	probably benign	0.17
R4735:Zfp943	UTSW	17	21992410	missense	probably benign	0.03
R5201:Zfp943	UTSW	17	21992813	missense	probably damaging	1.00
R5492:Zfp943	UTSW	17	21993075	missense	probably damaging	1.00
R5642:Zfp943	UTSW	17	21992832	missense	probably damaging	1.00
R6031:Zfp943	UTSW	17	21993376	missense	probably benign
R6031:Zfp943	UTSW	17	21993376	missense	probably benign
R6864:Zfp943	UTSW	17	21992612	missense	probably damaging	1.00
R6976:Zfp943	UTSW	17	21990941	missense	possibly damaging	0.47
R7837:Zfp943	UTSW	17	21992365	missense	probably benign	0.39
R7934:Zfp943	UTSW	17	21993380	missense	probably damaging	0.97
R8302:Zfp943	UTSW	17	21992110	missense	probably benign	0.18
R8323:Zfp943	UTSW	17	21992782	missense	possibly damaging	0.95
R9025:Zfp943	UTSW	17	21992340	missense	possibly damaging	0.67
R9101:Zfp943	UTSW	17	21993411	missense	possibly damaging	0.83
R9279:Zfp943	UTSW	17	21990851	missense	possibly damaging	0.89
R9640:Zfp943	UTSW	17	21990918	missense	probably damaging	0.99
Z1176:Zfp943	UTSW	17	21992965	missense	probably damaging	1.00
Z1177:Zfp943	UTSW	17	21988082	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAAGGTGGTCTTAGAAGTCATCAAAG -3'
(R):5'- AAGCTCACTTTTCAGGGCAAA -3'

Sequencing Primer
(F):5'- TCATCAAAGAATTCATACAGGAGGG -3'
(R):5'- CTAAGGTCGCCTTTCTGAGTGAAAC -3'

Posted On

2018-07-23