Mutagenetix > Incidental Mutation

Incidental Mutation 'R1628:Zfp93'

172612

Institutional Source

Beutler Lab

Gene Symbol

Zfp93

Ensembl Gene

ENSMUSG00000055305

Gene Name

zinc finger protein 93

Synonyms

MMRRC Submission

039665-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R1628 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

23969845-23977219 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 23974282 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 89 (E89G)

Ref Sequence

ENSEMBL: ENSMUSP00000104077 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032696] [ENSMUST00000108438]

AlphaFold

Q61116

Predicted Effect

probably benign
Transcript: ENSMUST00000032696
AA Change: E89G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000032696
Gene: ENSMUSG00000055305
AA Change: E89G

Domain	Start	End	E-Value	Type
KRAB	8	74	8.06e-19	SMART
ZnF_C2H2	285	307	2.71e-2	SMART
ZnF_C2H2	313	335	1.69e-3	SMART
ZnF_C2H2	341	363	8.02e-5	SMART
ZnF_C2H2	369	391	2.36e-2	SMART
ZnF_C2H2	397	419	1.2e-3	SMART
ZnF_C2H2	425	447	2.84e-5	SMART
ZnF_C2H2	453	475	7.78e-3	SMART
ZnF_C2H2	481	503	1.12e-3	SMART
ZnF_C2H2	509	531	2.57e-3	SMART
ZnF_C2H2	537	559	9.73e-4	SMART
ZnF_C2H2	565	587	4.94e-5	SMART
ZnF_C2H2	593	615	9.73e-4	SMART
ZnF_C2H2	621	643	5.5e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000108438
AA Change: E89G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000104077
Gene: ENSMUSG00000055305
AA Change: E89G

Domain	Start	End	E-Value	Type
KRAB	8	74	8.06e-19	SMART
ZnF_C2H2	285	307	2.71e-2	SMART
ZnF_C2H2	313	335	1.69e-3	SMART
ZnF_C2H2	341	363	8.02e-5	SMART
ZnF_C2H2	369	391	2.36e-2	SMART
ZnF_C2H2	397	419	1.2e-3	SMART
ZnF_C2H2	425	447	2.84e-5	SMART
ZnF_C2H2	453	475	7.78e-3	SMART
ZnF_C2H2	481	503	1.12e-3	SMART
ZnF_C2H2	509	531	2.57e-3	SMART
ZnF_C2H2	537	559	9.73e-4	SMART
ZnF_C2H2	565	587	4.94e-5	SMART
ZnF_C2H2	593	615	9.73e-4	SMART
ZnF_C2H2	621	643	5.5e-3	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155851

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.0%
20x: 91.7%

Validation Efficiency

99% (75/76)

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg8	C	T	17: 84,999,419 (GRCm39)	Q172*	probably null	Het
AI467606	G	A	7: 126,691,755 (GRCm39)	G110D	probably benign	Het
Arhgef15	A	C	11: 68,835,640 (GRCm39)	L805R	possibly damaging	Het
B3galnt1	G	A	3: 69,482,961 (GRCm39)	T100I	probably damaging	Het
Bod1l	T	A	5: 41,974,325 (GRCm39)	M2330L	probably benign	Het
Calcr	A	T	6: 3,700,251 (GRCm39)	H280Q	possibly damaging	Het
Camk1d	T	C	2: 5,315,848 (GRCm39)	D263G	probably damaging	Het
Cd48	T	A	1: 171,532,420 (GRCm39)	I233N	probably damaging	Het
Cyp3a25	A	T	5: 145,938,273 (GRCm39)	Y68*	probably null	Het
Dapk3	C	A	10: 81,027,643 (GRCm39)	T227K	possibly damaging	Het
Dnajc22	A	G	15: 98,998,817 (GRCm39)	M1V	probably null	Het
Etv5	C	T	16: 22,220,421 (GRCm39)		probably null	Het
Gabrr1	A	G	4: 33,152,432 (GRCm39)	Y124C	probably damaging	Het
Gba2	C	T	4: 43,570,118 (GRCm39)	R392Q	probably benign	Het
Gli3	C	G	13: 15,900,897 (GRCm39)	A1428G	probably benign	Het
Gls	G	A	1: 52,271,835 (GRCm39)	A106V	probably benign	Het
Gm21370	A	G	13: 120,488,414 (GRCm39)	V45A	possibly damaging	Het
Gpr4	A	G	7: 18,957,124 (GRCm39)	T349A	probably benign	Het
Gpr6	C	T	10: 40,947,544 (GRCm39)	V13M	possibly damaging	Het
Gvin3	A	T	7: 106,202,476 (GRCm39)	L256*	probably null	Het
Hectd3	A	G	4: 116,854,589 (GRCm39)	H345R	probably damaging	Het
Igfl3	A	T	7: 17,914,232 (GRCm39)	K135N	probably benign	Het
Il23r	A	G	6: 67,400,593 (GRCm39)	L579S	probably damaging	Het
Itsn2	A	C	12: 4,679,652 (GRCm39)	M154L	probably benign	Het
Junb	T	A	8: 85,705,039 (GRCm39)	Q7L	possibly damaging	Het
Kif21b	T	A	1: 136,098,958 (GRCm39)	H1415Q	probably benign	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Klhdc10	T	G	6: 30,444,461 (GRCm39)	F79L	probably damaging	Het
Klk1b8	A	G	7: 43,603,565 (GRCm39)		probably null	Het
Lmbrd2	T	A	15: 9,182,593 (GRCm39)	N509K	probably damaging	Het
Mctp2	A	G	7: 71,861,337 (GRCm39)		probably null	Het
Myo3b	A	G	2: 70,117,306 (GRCm39)	N913S	probably benign	Het
N4bp2	G	A	5: 65,960,915 (GRCm39)		probably null	Het
Nt5c1a	A	G	4: 123,102,284 (GRCm39)	E70G	possibly damaging	Het
Or12k5	A	G	2: 36,894,738 (GRCm39)	V296A	probably damaging	Het
Papln	A	G	12: 83,831,180 (GRCm39)		probably benign	Het
Pcnx3	G	T	19: 5,736,093 (GRCm39)	S244R	probably damaging	Het
Pecam1	A	T	11: 106,573,786 (GRCm39)		probably null	Het
Plppr4	A	T	3: 117,121,921 (GRCm39)	L219Q	probably damaging	Het
Ppp2r5b	A	G	19: 6,280,935 (GRCm39)		probably null	Het
Ralgapb	A	G	2: 158,272,383 (GRCm39)	R146G	probably benign	Het
Rapgef6	TG	TGG	11: 54,437,223 (GRCm39)		probably null	Het
Rfpl4b	T	G	10: 38,697,530 (GRCm39)	I24L	probably benign	Het
Serpinb1b	G	A	13: 33,277,637 (GRCm39)	C290Y	probably benign	Het
Skic3	A	G	13: 76,259,910 (GRCm39)	E70G	possibly damaging	Het
Slc25a17	A	G	15: 81,244,925 (GRCm39)	S3P	possibly damaging	Het
Slc4a11	A	C	2: 130,529,047 (GRCm39)		probably null	Het
Spata31e4	T	C	13: 50,856,324 (GRCm39)	L654P	probably benign	Het
Sptb	A	G	12: 76,630,622 (GRCm39)	Y2231H	probably damaging	Het
Srgap1	T	G	10: 121,706,244 (GRCm39)	M221L	probably benign	Het
Srgap3	A	G	6: 112,716,331 (GRCm39)	L599P	probably damaging	Het
Svep1	C	T	4: 58,107,561 (GRCm39)	V1177M	probably benign	Het
Tarbp1	A	G	8: 127,157,599 (GRCm39)	F1303L	possibly damaging	Het
Tbxa2r	T	C	10: 81,170,341 (GRCm39)	S276P	possibly damaging	Het
Try10	A	T	6: 41,334,390 (GRCm39)	D194V	probably damaging	Het
Ttc39c	T	C	18: 12,867,936 (GRCm39)		probably benign	Het
Ttc8	G	A	12: 98,948,780 (GRCm39)	V489M	probably benign	Het
Unc13b	G	T	4: 43,263,371 (GRCm39)	R1912L	probably damaging	Het
Unc45b	T	A	11: 82,820,206 (GRCm39)		probably null	Het
Usp17lb	T	C	7: 104,490,048 (GRCm39)	Y292C	probably damaging	Het
Usp34	A	G	11: 23,438,725 (GRCm39)	D3429G	probably damaging	Het
Usp42	A	G	5: 143,703,122 (GRCm39)	S500P	probably damaging	Het
Vmn2r14	T	C	5: 109,367,838 (GRCm39)	M385V	probably benign	Het
Vmn2r60	G	A	7: 41,785,830 (GRCm39)	W211*	probably null	Het
Vwf	A	T	6: 125,624,701 (GRCm39)		probably benign	Het
Wdfy4	A	T	14: 32,681,918 (GRCm39)	F3018I	probably damaging	Het
Wwox	A	G	8: 115,174,973 (GRCm39)	T102A	probably benign	Het
Zfp142	A	C	1: 74,611,047 (GRCm39)	L813R	possibly damaging	Het
Zfp407	G	A	18: 84,372,658 (GRCm39)	T1670M	probably damaging	Het
Zwint	C	T	10: 72,492,127 (GRCm39)	Q18*	probably null	Het

Other mutations in Zfp93

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00660:Zfp93	APN	7	23,975,117 (GRCm39)	missense	probably damaging	1.00
IGL02939:Zfp93	APN	7	23,974,509 (GRCm39)	missense	possibly damaging	0.86
IGL02956:Zfp93	APN	7	23,974,400 (GRCm39)	missense	probably benign	0.25
FR4342:Zfp93	UTSW	7	23,975,011 (GRCm39)	missense	possibly damaging	0.92
FR4737:Zfp93	UTSW	7	23,974,814 (GRCm39)	small deletion	probably benign
R0099:Zfp93	UTSW	7	23,974,900 (GRCm39)	missense	probably benign	0.01
R0376:Zfp93	UTSW	7	23,975,286 (GRCm39)	missense	probably damaging	1.00
R1466:Zfp93	UTSW	7	23,975,521 (GRCm39)	missense	probably damaging	0.99
R1466:Zfp93	UTSW	7	23,975,521 (GRCm39)	missense	probably damaging	0.99
R1511:Zfp93	UTSW	7	23,975,156 (GRCm39)	nonsense	probably null
R4581:Zfp93	UTSW	7	23,975,093 (GRCm39)	missense	probably damaging	1.00
R4977:Zfp93	UTSW	7	23,974,836 (GRCm39)	missense	probably benign	0.00
R5162:Zfp93	UTSW	7	23,975,757 (GRCm39)	missense	probably damaging	1.00
R6031:Zfp93	UTSW	7	23,975,725 (GRCm39)	missense	probably damaging	1.00
R6031:Zfp93	UTSW	7	23,975,725 (GRCm39)	missense	probably damaging	1.00
R6284:Zfp93	UTSW	7	23,975,054 (GRCm39)	nonsense	probably null
R6471:Zfp93	UTSW	7	23,972,754 (GRCm39)	missense	probably damaging	1.00
R6694:Zfp93	UTSW	7	23,975,338 (GRCm39)	missense	probably damaging	1.00
R6969:Zfp93	UTSW	7	23,974,806 (GRCm39)	nonsense	probably null
R7543:Zfp93	UTSW	7	23,974,533 (GRCm39)	missense	probably benign	0.13
R7623:Zfp93	UTSW	7	23,975,794 (GRCm39)	missense	probably damaging	1.00
R7763:Zfp93	UTSW	7	23,974,643 (GRCm39)	missense	possibly damaging	0.56
R7957:Zfp93	UTSW	7	23,974,999 (GRCm39)	missense	probably damaging	1.00
R8157:Zfp93	UTSW	7	23,975,885 (GRCm39)	nonsense	probably null
R8194:Zfp93	UTSW	7	23,975,479 (GRCm39)	missense	probably benign	0.08
R9700:Zfp93	UTSW	7	23,974,894 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AAGGTAGCCTTGAGCCTTCACTCC -3'
(R):5'- TGAGCCCTCCCAGAGAGAAATTCC -3'

Sequencing Primer
(F):5'- CAGACATTCACCTTTGACACTG -3'
(R):5'- CCCAGAGAGAAATTCCTGATTGTC -3'

Posted On

2014-04-24