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

4930432O21Rik

MMRRC Submission

044787-MU

Accession Numbers

Essential gene?

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

Stock #

R6667 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

22181540-22213347 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 22211889 bp (GRCm39)

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: 124,504,435 (GRCm39)	A39E	probably damaging	Het
Agtr1b	T	A	3: 20,369,913 (GRCm39)	N231I	possibly damaging	Het
Alpk2	T	C	18: 65,440,811 (GRCm39)	E661G	probably damaging	Het
Ankrd26	C	T	6: 118,484,749 (GRCm39)	S1496N	probably benign	Het
Asah2	T	C	19: 31,972,758 (GRCm39)	N659S	probably benign	Het
Atp12a	T	C	14: 56,621,645 (GRCm39)	V760A	possibly damaging	Het
Casp2	T	C	6: 42,256,770 (GRCm39)	C343R	probably damaging	Het
Cblb	T	A	16: 51,973,007 (GRCm39)	M446K	possibly damaging	Het
Cipc	T	C	12: 87,008,864 (GRCm39)	V241A	probably benign	Het
Ddit4l	A	G	3: 137,331,882 (GRCm39)	K83E	probably benign	Het
Eif1ad10	A	T	12: 88,216,475 (GRCm39)	D132E	unknown	Het
Epc2	A	G	2: 49,412,681 (GRCm39)	T220A	probably damaging	Het
Epha5	T	C	5: 84,219,050 (GRCm39)	D741G	probably damaging	Het
Flg2	A	T	3: 93,109,068 (GRCm39)	R365S	possibly damaging	Het
Ggn	A	T	7: 28,872,093 (GRCm39)	H491L	possibly damaging	Het
Gpat2	G	C	2: 127,273,838 (GRCm39)	G294R	possibly damaging	Het
Ighv6-4	A	G	12: 114,370,152 (GRCm39)	V100A	probably benign	Het
Invs	A	T	4: 48,402,870 (GRCm39)	Y501F	possibly damaging	Het
Iqcm	G	T	8: 76,479,980 (GRCm39)	G313W	probably damaging	Het
Jph2	A	G	2: 163,218,206 (GRCm39)	S157P	probably damaging	Het
Mast4	T	C	13: 102,874,004 (GRCm39)	E1596G	probably damaging	Het
Mllt6	T	A	11: 97,567,760 (GRCm39)	L759Q	probably damaging	Het
Nalcn	A	G	14: 123,558,735 (GRCm39)	L837P	probably damaging	Het
Neb	G	A	2: 52,037,201 (GRCm39)	T6836I	probably damaging	Het
Nol12	T	A	15: 78,824,280 (GRCm39)	D133E	probably benign	Het
Or5w13	A	G	2: 87,523,914 (GRCm39)	V104A	probably benign	Het
Oxtr	C	A	6: 112,454,060 (GRCm39)		probably benign	Het
Pcmt1	A	G	10: 7,538,913 (GRCm39)	L38P	probably damaging	Het
Pik3r2	T	C	8: 71,221,817 (GRCm39)	Y617C	probably damaging	Het
Potefam3b	T	C	8: 21,161,955 (GRCm39)	S267P	probably benign	Het
Prl7a2	T	C	13: 27,845,024 (GRCm39)	N121D	probably benign	Het
Pvr	G	T	7: 19,639,727 (GRCm39)	Q380K	probably benign	Het
Rtn2	A	G	7: 19,021,184 (GRCm39)	E188G	probably benign	Het
Setd4	C	A	16: 93,386,918 (GRCm39)	R260L	probably benign	Het
Six5	A	G	7: 18,830,494 (GRCm39)	N374D	probably benign	Het
Slc9b1	T	C	3: 135,077,726 (GRCm39)	I140T	probably damaging	Het
Supt16	A	G	14: 52,409,520 (GRCm39)	F797L	probably damaging	Het
Tbata	T	C	10: 61,021,142 (GRCm39)	L262P	probably damaging	Het
Tti1	A	T	2: 157,850,347 (GRCm39)	C297*	probably null	Het
Ush1c	C	A	7: 45,875,048 (GRCm39)	G139C	probably damaging	Het
Vmn1r1	C	T	1: 181,985,342 (GRCm39)	V108I	probably benign	Het
Vmn2r116	C	T	17: 23,620,066 (GRCm39)	T600I	probably damaging	Het
Zfp764l1	A	G	7: 126,992,595 (GRCm39)	M5T	probably benign	Het
Zfp873	A	G	10: 81,896,423 (GRCm39)	T422A	probably benign	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
R3790:Zfp943	UTSW	17	22,211,403 (GRCm39)	missense	possibly damaging	0.81
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
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'- AAAGGTGGTCTTAGAAGTCATCAAAG -3'
(R):5'- AAGCTCACTTTTCAGGGCAAA -3'

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

Posted On

2018-07-23