Mutagenetix > Incidental Mutation

Incidental Mutation 'R6864:Zfp943'

535836

Institutional Source

Beutler Lab

Gene Symbol

Zfp943

Ensembl Gene

ENSMUSG00000053347

Gene Name

zinc finger prtoein 943

Synonyms

4930432O21Rik

MMRRC Submission

044964-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.208) question?

Stock #

R6864 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

22181540-22213347 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 22211593 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 226 (H226Q)

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: H226Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000059554
Gene: ENSMUSG00000053347
AA Change: H226Q

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.2%

Validation Efficiency

100% (60/60)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre1	C	T	17: 57,785,879 (GRCm39)	T875I	probably damaging	Het
Anln	A	T	9: 22,293,545 (GRCm39)	S33T	probably benign	Het
Anxa6	T	C	11: 54,877,011 (GRCm39)	T541A	probably benign	Het
Atxn2	C	T	5: 121,917,557 (GRCm39)	R334W	probably damaging	Het
AU040320	T	A	4: 126,741,612 (GRCm39)	V940D	probably damaging	Het
Bcl2	A	T	1: 106,471,011 (GRCm39)	Y232N	probably damaging	Het
Bmp7	A	G	2: 172,781,855 (GRCm39)	V3A	probably benign	Het
Calr	A	T	8: 85,571,557 (GRCm39)	H145Q	probably damaging	Het
Camta2	T	A	11: 70,562,792 (GRCm39)	T976S	probably benign	Het
Ccnk	G	A	12: 108,168,473 (GRCm39)		probably benign	Het
Cntln	T	C	4: 85,015,029 (GRCm39)	S1107P	probably damaging	Het
Cradd	T	C	10: 95,011,789 (GRCm39)	D117G	probably damaging	Het
Dcaf7	C	T	11: 105,937,647 (GRCm39)	T90I	probably damaging	Het
Defb30	T	A	14: 63,273,552 (GRCm39)		probably null	Het
Dock4	T	A	12: 40,795,745 (GRCm39)	I854N	probably damaging	Het
Dym	T	A	18: 75,189,809 (GRCm39)	Y132*	probably null	Het
Eef1a2	T	C	2: 180,791,477 (GRCm39)	T341A	probably benign	Het
Eml2	T	C	7: 18,930,206 (GRCm39)	V309A	probably damaging	Het
Flnb	C	T	14: 7,905,640 (GRCm38)	P1130L	possibly damaging	Het
Hivep3	C	A	4: 119,952,085 (GRCm39)	Q134K	possibly damaging	Het
Kbtbd2	T	A	6: 56,757,011 (GRCm39)	K242*	probably null	Het
Kel	A	G	6: 41,680,694 (GRCm39)		probably null	Het
Lcorl	T	A	5: 45,904,546 (GRCm39)	K177N	probably damaging	Het
Mbd3l2	A	G	9: 18,354,795 (GRCm39)		probably benign	Het
Mcm3ap	A	G	10: 76,343,313 (GRCm39)	D1735G	probably damaging	Het
Ms4a1	C	A	19: 11,230,542 (GRCm39)		probably null	Het
Muc5ac	C	T	7: 141,363,481 (GRCm39)		probably benign	Het
Mylk	C	A	16: 34,694,520 (GRCm39)	P193Q	probably benign	Het
Or1j11	T	A	2: 36,311,832 (GRCm39)	C141S	probably damaging	Het
Or2y16	G	T	11: 49,334,767 (GRCm39)	A30S	probably benign	Het
Or2y17	A	T	11: 49,231,580 (GRCm39)	T74S	probably damaging	Het
Or4d10b	A	T	19: 12,036,777 (GRCm39)	F113Y	probably damaging	Het
Or4f52	C	T	2: 111,061,542 (GRCm39)	V199I	probably benign	Het
Otogl	C	T	10: 107,663,667 (GRCm39)	S968N	probably damaging	Het
Oxr1	T	G	15: 41,686,783 (GRCm39)	V555G	probably damaging	Het
Parp12	T	C	6: 39,088,670 (GRCm39)	I189V	probably benign	Het
Peg3	T	C	7: 6,715,761 (GRCm39)	Y103C	probably damaging	Het
Plekhh2	T	C	17: 84,925,427 (GRCm39)	V1408A	probably benign	Het
Prkacb	T	C	3: 146,451,133 (GRCm39)	Y204C	probably damaging	Het
Prkch	A	G	12: 73,806,391 (GRCm39)	E546G	probably damaging	Het
Prss12	C	A	3: 123,241,033 (GRCm39)	H76N	probably benign	Het
Rai14	G	T	15: 10,633,254 (GRCm39)	S45R	possibly damaging	Het
Samd9l	T	A	6: 3,374,750 (GRCm39)	D837V	probably benign	Het
Slc22a6	G	T	19: 8,595,805 (GRCm39)	C49F	probably damaging	Het
Slc2a2	T	A	3: 28,775,874 (GRCm39)	I328N	probably damaging	Het
Slc35f4	T	C	14: 49,556,310 (GRCm39)	I148V	possibly damaging	Het
Stk32b	A	T	5: 37,606,149 (GRCm39)		probably null	Het
Tasor	T	A	14: 27,183,115 (GRCm39)	F525I	probably damaging	Het
Tktl2	T	C	8: 66,964,991 (GRCm39)	I183T	probably damaging	Het
Tmem175	A	C	5: 108,793,845 (GRCm39)	H325P	probably damaging	Het
Tns3	A	G	11: 8,443,196 (GRCm39)	V389A	probably damaging	Het
Trappc9	A	T	15: 72,809,011 (GRCm39)		probably null	Het
Trim28	T	A	7: 12,763,385 (GRCm39)	F509I	possibly damaging	Het
Vmn1r210	T	A	13: 23,011,713 (GRCm39)	Q191L	probably benign	Het
Vmn2r24	A	T	6: 123,756,117 (GRCm39)	D63V	possibly damaging	Het
Zfp536	A	G	7: 37,267,940 (GRCm39)	L492P	probably damaging	Het
Zfp831	C	A	2: 174,488,533 (GRCm39)	N1069K	possibly 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
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'- GGCTTTTGACACTAAACATGAACTC -3'
(R):5'- CAGTACATTTGTAAGGTTTCTCTCCTG -3'

Sequencing Primer
(F):5'- CTCATGCTTAAACAAACCAATAGTG -3'
(R):5'- GTAAGGTTTCTCTCCTGTATGAATTC -3'

Posted On

2018-10-18