Mutagenetix > Incidental Mutation

Incidental Mutation 'R6976:Zfp943'

542479

Institutional Source

Beutler Lab

Gene Symbol

Zfp943

Ensembl Gene

ENSMUSG00000053347

Gene Name

zinc finger prtoein 943

Synonyms

4930432O21Rik

MMRRC Submission

045382-MU

Accession Numbers

Essential gene?

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

Stock #

R6976 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

22181540-22213347 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 22209922 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 65 (S65P)

Ref Sequence

ENSEMBL: ENSMUSP00000115817 (fasta)

Gene Model

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

AlphaFold

Q6NZP4

Predicted Effect

probably benign
Transcript: ENSMUST00000055349

SMART Domains

Protein: ENSMUSP00000059554
Gene: ENSMUSG00000053347

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

possibly damaging
Transcript: ENSMUST00000153985
AA Change: S65P

PolyPhen 2 Score 0.473 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000115817
Gene: ENSMUSG00000053347
AA Change: S65P

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

Validation Efficiency

100% (50/50)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss2	T	A	2: 155,397,929 (GRCm39)		probably null	Het
Adamts4	G	T	1: 171,079,877 (GRCm39)		probably benign	Het
Adgrv1	T	A	13: 81,669,116 (GRCm39)	K2480M	probably damaging	Het
Ankhd1	A	C	18: 36,781,307 (GRCm39)	S2120R	probably benign	Het
Ash1l	T	A	3: 88,888,964 (GRCm39)	V281E	possibly damaging	Het
Bdh1	G	A	16: 31,256,847 (GRCm39)	A35T	probably benign	Het
Brpf3	A	G	17: 29,054,751 (GRCm39)	M1098V	probably damaging	Het
Cel	G	A	2: 28,446,854 (GRCm39)	S439F	probably damaging	Het
Dnah11	T	C	12: 118,162,378 (GRCm39)	S64G	probably benign	Het
Dpp7	T	C	2: 25,244,836 (GRCm39)		probably null	Het
Fam83c	T	A	2: 155,672,157 (GRCm39)	Y426F	possibly damaging	Het
Fasn	A	G	11: 120,710,693 (GRCm39)	I322T	probably damaging	Het
Glod4	A	G	11: 76,134,406 (GRCm39)	F22S	probably damaging	Het
Gm3127	A	G	14: 15,432,190 (GRCm39)	T231A	possibly damaging	Het
Gm49383	A	G	12: 69,243,730 (GRCm39)	S444P	possibly damaging	Het
Gnaz	T	C	10: 74,827,268 (GRCm39)	S7P	possibly damaging	Het
Grin2b	C	T	6: 135,757,198 (GRCm39)	S421N	probably benign	Het
Grm1	T	C	10: 10,564,924 (GRCm39)	D1128G	probably benign	Het
Hoxb13	A	G	11: 96,087,044 (GRCm39)	T284A	probably benign	Het
Il9r	G	A	11: 32,143,177 (GRCm39)	Q260*	probably null	Het
Lrrfip1	T	A	1: 91,042,737 (GRCm39)	C381S	probably benign	Het
Mitd1	A	T	1: 37,921,778 (GRCm39)	D85E	probably benign	Het
Muc4	G	A	16: 32,582,892 (GRCm39)	D2556N	possibly damaging	Het
Nlrc4	A	G	17: 74,752,934 (GRCm39)	I483T	probably damaging	Het
Or13e8	A	G	4: 43,697,170 (GRCm39)	M1T	probably null	Het
Or2ag17	A	T	7: 106,389,434 (GRCm39)	M258K	probably damaging	Het
Or8g4	A	G	9: 39,662,540 (GRCm39)	N286S	probably damaging	Het
Pcdhb7	C	A	18: 37,476,631 (GRCm39)	A589E	probably benign	Het
Pcdhgb5	G	A	18: 37,864,321 (GRCm39)	E39K	probably damaging	Het
Pja2	T	C	17: 64,615,954 (GRCm39)	K314E	probably damaging	Het
Plcb1	A	G	2: 135,104,159 (GRCm39)	E276G	possibly damaging	Het
Ppp2r5c	A	G	12: 110,510,579 (GRCm39)	E122G	probably damaging	Het
Prrc2c	A	T	1: 162,520,413 (GRCm39)	N732K	probably damaging	Het
Rb1cc1	T	A	1: 6,333,126 (GRCm39)	D1348E	probably benign	Het
Sh3rf1	G	T	8: 61,814,766 (GRCm39)	E442*	probably null	Het
Snapc1	A	G	12: 74,016,974 (GRCm39)	D204G	probably damaging	Het
Sry	C	T	Y: 2,662,938 (GRCm39)	D241N	unknown	Het
Strn4	T	A	7: 16,564,279 (GRCm39)	M303K	probably benign	Het
Tas2r118	A	G	6: 23,969,470 (GRCm39)	I197T	probably benign	Het
Tnni3k	A	G	3: 154,498,413 (GRCm39)	Y809H	probably benign	Het
Tnpo3	A	T	6: 29,572,594 (GRCm39)	C419*	probably null	Het
Trpm6	T	C	19: 18,760,527 (GRCm39)	S143P	probably benign	Het
Ttc23l	A	T	15: 10,537,666 (GRCm39)	C201*	probably null	Het
Ubr4	A	G	4: 139,120,388 (GRCm39)	N271S	probably damaging	Het
Vmn1r70	T	C	7: 10,367,971 (GRCm39)	M134T	probably benign	Het
Vmn2r27	C	T	6: 124,201,312 (GRCm39)	W215*	probably null	Het
Xirp1	A	T	9: 119,846,984 (GRCm39)	M633K	probably damaging	Het
Zfp174	T	C	16: 3,665,804 (GRCm39)	I23T	possibly damaging	Het
Zfp536	T	A	7: 37,179,828 (GRCm39)	S926C	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
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
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
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'- CTTGTATCCAACAGCTTGGTAAAC -3'
(R):5'- ACTGGGGAGTTTTGATTAAAAGTAG -3'

Sequencing Primer
(F):5'- CAGGTATTTTTCCATTACAGGGTC -3'
(R):5'- TTCCACAGAATGGAGAGAA -3'

Posted On

2018-11-28