Mutagenetix > Incidental Mutation

Incidental Mutation 'R6694:Zfp93'

528494

Institutional Source

Beutler Lab

Gene Symbol

Zfp93

Ensembl Gene

ENSMUSG00000055305

Gene Name

zinc finger protein 93

Synonyms

MMRRC Submission

044812-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R6694 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

23969845-23977219 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 23975338 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 441 (Q441L)

Ref Sequence

ENSEMBL: ENSMUSP00000104077 (fasta)

Gene Model

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

AlphaFold

Q61116

Predicted Effect

probably damaging
Transcript: ENSMUST00000032696
AA Change: Q441L

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

SMART Domains

Protein: ENSMUSP00000032696
Gene: ENSMUSG00000055305
AA Change: Q441L

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 damaging
Transcript: ENSMUST00000108438
AA Change: Q441L

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

SMART Domains

Protein: ENSMUSP00000104077
Gene: ENSMUSG00000055305
AA Change: Q441L

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.7%

Validation Efficiency

95% (41/43)

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aoc1l2	G	A	6: 48,907,480 (GRCm39)	S160N	probably benign	Het
Arap3	A	C	18: 38,124,590 (GRCm39)		probably null	Het
Arhgap10	A	G	8: 78,137,692 (GRCm39)	F300L	probably benign	Het
Ccdc116	T	C	16: 16,960,655 (GRCm39)	E54G	probably benign	Het
Cd53	T	A	3: 106,674,702 (GRCm39)	I122F	probably benign	Het
Ctnnd1	T	C	2: 84,454,849 (GRCm39)		probably benign	Het
Ddx60	A	G	8: 62,490,104 (GRCm39)	D1691G	probably damaging	Het
Dnah11	T	C	12: 118,150,617 (GRCm39)		probably null	Het
Exoc1	T	A	5: 76,697,399 (GRCm39)	M392K	probably damaging	Het
Exoc3l	G	C	8: 106,017,122 (GRCm39)	R622G	probably benign	Het
Grid2	C	G	6: 63,908,031 (GRCm39)	R224G	possibly damaging	Het
Kif20a	A	G	18: 34,758,579 (GRCm39)	E16G	probably damaging	Het
Kit	T	C	5: 75,801,417 (GRCm39)	V568A	possibly damaging	Het
Lhx4	T	C	1: 155,580,456 (GRCm39)	S257G	probably benign	Het
Med18	C	T	4: 132,187,293 (GRCm39)	V114I	probably benign	Het
Mrps30	C	T	13: 118,523,497 (GRCm39)	V92M	possibly damaging	Het
Mtrr	C	T	13: 68,712,452 (GRCm39)	V645I	probably benign	Het
Nuak2	T	G	1: 132,260,048 (GRCm39)	S609A	probably damaging	Het
Or2y1g	A	T	11: 49,171,379 (GRCm39)	I135F	probably benign	Het
Plk4	T	C	3: 40,756,263 (GRCm39)	V58A	probably damaging	Het
Polq	T	A	16: 36,835,535 (GRCm39)	F145L	probably null	Het
Rab11fip2	T	C	19: 59,925,707 (GRCm39)	K170R	probably damaging	Het
Rapgef3	A	G	15: 97,657,865 (GRCm39)	V246A	probably benign	Het
Rc3h2	A	G	2: 37,290,555 (GRCm39)	S316P	probably damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Homo
Rsf1	GCGGCGGC	GCGGCGGCGACGGCGGC	7: 97,229,135 (GRCm39)		probably benign	Het
Sae1	G	T	7: 16,102,461 (GRCm39)	A171E	probably damaging	Het
Semp2l2b	T	C	10: 21,943,620 (GRCm39)	E120G	probably damaging	Het
Setd5	T	A	6: 113,120,669 (GRCm39)	N959K	probably benign	Het
Siae	T	A	9: 37,528,119 (GRCm39)	Y31N	probably damaging	Het
Sit1	C	T	4: 43,483,311 (GRCm39)	G51D	probably damaging	Het
Slc5a11	A	G	7: 122,867,012 (GRCm39)	I436V	possibly damaging	Het
Tcfl5	A	G	2: 180,264,447 (GRCm39)	S470P	probably damaging	Het
Timd2	A	T	11: 46,561,779 (GRCm39)	C288*	probably null	Het
Timeless	T	G	10: 128,075,868 (GRCm39)		probably null	Het
Ubxn8	G	T	8: 34,111,572 (GRCm39)	Q274K	possibly damaging	Het
Usp29	A	G	7: 6,965,276 (GRCm39)	E373G	probably benign	Het
Zap70	A	G	1: 36,821,598 (GRCm39)	Y597C	probably damaging	Het
Zfp523	T	G	17: 28,419,446 (GRCm39)	Y195D	probably damaging	Het
Zfp74	G	A	7: 29,634,559 (GRCm39)	A383V	probably damaging	Het
Zfp976	A	T	7: 42,263,610 (GRCm39)	Y76N	probably damaging	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
R1628:Zfp93	UTSW	7	23,974,282 (GRCm39)	missense	probably benign	0.00
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
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'- GTCAGAGCTCAGCACTTCAG -3'
(R):5'- TCTTGCTGAACTGCTTCTGG -3'

Sequencing Primer
(F):5'- AGACTGTGGCAAGCGCTTC -3'
(R):5'- AGGCATGACTGAAGCCTTTC -3'

Posted On

2018-07-24