Mutagenetix > Incidental Mutation

Incidental Mutation 'R4977:Zfp93'

382759

Institutional Source

Beutler Lab

Gene Symbol

Zfp93

Ensembl Gene

ENSMUSG00000055305

Gene Name

zinc finger protein 93

Synonyms

MMRRC Submission

042572-MU

Accession Numbers

Essential gene?

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

Stock #

R4977 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

23969845-23977219 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 23974836 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 274 (I274V)

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: I274V

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

SMART Domains

Protein: ENSMUSP00000032696
Gene: ENSMUSG00000055305
AA Change: I274V

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: I274V

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

SMART Domains

Protein: ENSMUSP00000104077
Gene: ENSMUSG00000055305
AA Change: I274V

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: 99.0%
3x: 98.2%
10x: 96.2%
20x: 92.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	T	C	11: 110,026,899 (GRCm39)	D910G	probably benign	Het
Amy1	C	T	3: 113,363,026 (GRCm39)		probably null	Het
C1s2	A	G	6: 124,612,598 (GRCm39)	M19T	probably damaging	Het
Cadps2	A	G	6: 23,599,478 (GRCm39)	I276T	probably damaging	Het
Cdyl2	A	G	8: 117,302,008 (GRCm39)	C458R	probably damaging	Het
Cep112	T	C	11: 108,325,062 (GRCm39)	S35P	probably damaging	Het
Chd9	T	C	8: 91,760,336 (GRCm39)	L2027P	possibly damaging	Het
Clcn4	T	A	7: 7,294,436 (GRCm39)	I411F	probably benign	Het
Cyp3a57	T	C	5: 145,286,236 (GRCm39)		probably null	Het
Dis3l	A	C	9: 64,214,483 (GRCm39)	S919A	probably benign	Het
Dnah8	A	G	17: 30,882,275 (GRCm39)	T616A	probably benign	Het
Emx2	A	G	19: 59,447,678 (GRCm39)	T11A	probably damaging	Het
Fbxl18	A	G	5: 142,871,840 (GRCm39)	L465P	probably damaging	Het
Fbxw27	G	A	9: 109,601,187 (GRCm39)	T311I	probably damaging	Het
Fhip1b	A	T	7: 105,038,542 (GRCm39)	D232E	probably damaging	Het
Fstl5	C	T	3: 76,317,801 (GRCm39)	Q156*	probably null	Het
Ggn	G	T	7: 28,871,621 (GRCm39)	G334C	probably damaging	Het
Grik2	T	C	10: 49,008,841 (GRCm39)	N749D	probably damaging	Het
Helb	A	G	10: 119,946,786 (GRCm39)	S176P	probably benign	Het
Hyal1	A	G	9: 107,456,153 (GRCm39)	D73G	probably benign	Het
Ifi205	C	A	1: 173,842,574 (GRCm39)	R374I	probably benign	Het
Ift172	A	T	5: 31,429,460 (GRCm39)	V567D	possibly damaging	Het
Ighv1-43	A	T	12: 114,909,845 (GRCm39)	S26T	possibly damaging	Het
Il21	C	A	3: 37,286,653 (GRCm39)	S21I	probably damaging	Het
Jam3	A	G	9: 27,009,669 (GRCm39)	V309A	probably damaging	Het
Kcnh4	A	T	11: 100,637,659 (GRCm39)	L666Q	probably damaging	Het
Kcnk10	A	G	12: 98,406,946 (GRCm39)	V250A	probably benign	Het
Lama1	A	G	17: 68,044,677 (GRCm39)	Y192C	probably damaging	Het
Lamb2	G	A	9: 108,364,846 (GRCm39)	R1200H	probably damaging	Het
Lilra6	T	G	7: 3,917,382 (GRCm39)	R204S	probably benign	Het
Lrrn1	A	G	6: 107,545,668 (GRCm39)	I489V	probably benign	Het
Mdh2	T	A	5: 135,812,263 (GRCm39)	D57E	probably damaging	Het
Mfsd2a	A	G	4: 122,844,302 (GRCm39)	S282P	probably benign	Het
Midn	T	A	10: 79,986,018 (GRCm39)	I36N	probably damaging	Het
Mpped1	A	T	15: 83,680,907 (GRCm39)		probably benign	Het
Myh10	A	G	11: 68,689,197 (GRCm39)	D1258G	possibly damaging	Het
Nup62	T	C	7: 44,478,449 (GRCm39)	S155P	possibly damaging	Het
Or2g7	A	T	17: 38,378,638 (GRCm39)	H192L	possibly damaging	Het
Or2t46	A	G	11: 58,472,455 (GRCm39)	T262A	possibly damaging	Het
Or52ab7	A	T	7: 102,978,040 (GRCm39)	M116L	probably benign	Het
Pex7	T	C	10: 19,745,078 (GRCm39)	T258A	probably benign	Het
Plg	A	G	17: 12,621,976 (GRCm39)	D432G	probably damaging	Het
Plxnd1	A	T	6: 115,971,337 (GRCm39)	S144T	probably damaging	Het
Prkch	T	C	12: 73,749,667 (GRCm39)	F420S	possibly damaging	Het
Psg26	A	G	7: 18,209,235 (GRCm39)	V391A	probably benign	Het
Psg29	G	A	7: 16,942,556 (GRCm39)	G186R	probably damaging	Het
Rev3l	T	A	10: 39,699,574 (GRCm39)	I1357K	possibly damaging	Het
Rsf1	GCGGCGGCG	GCGGCGGCGTCGGCGGCG	7: 97,229,123 (GRCm39)		probably benign	Het
Runx1	T	A	16: 92,441,235 (GRCm39)		probably null	Het
Sapcd1	A	T	17: 35,245,427 (GRCm39)	S119T	possibly damaging	Het
Sema5a	T	A	15: 32,679,332 (GRCm39)	N870K	probably damaging	Het
Serpina3f	G	A	12: 104,183,314 (GRCm39)	E59K	probably benign	Het
Slc8b1	A	G	5: 120,662,352 (GRCm39)	K299E	possibly damaging	Het
Slco1b2	G	A	6: 141,603,283 (GRCm39)	M221I	probably benign	Het
Smg5	C	T	3: 88,263,032 (GRCm39)	Q812*	probably null	Het
Smr3a	T	G	5: 88,155,962 (GRCm39)		probably null	Het
Syt9	G	A	7: 107,103,479 (GRCm39)	D426N	probably damaging	Het
Tcf25	T	C	8: 124,115,374 (GRCm39)	Y204H	probably benign	Het
Tmeff2	T	A	1: 51,018,715 (GRCm39)	C232*	probably null	Het
Tmem184a	C	A	5: 139,793,757 (GRCm39)	G219V	probably null	Het
Tnc	G	T	4: 63,924,485 (GRCm39)	T1071K	possibly damaging	Het
Tnn	C	A	1: 159,948,188 (GRCm39)	G842W	probably damaging	Het
Tshz3	T	A	7: 36,470,615 (GRCm39)	I868N	probably benign	Het
Ulbp1	C	T	10: 7,397,391 (GRCm39)	R238H	probably benign	Het
Ushbp1	C	T	8: 71,847,693 (GRCm39)		probably null	Het
Usp34	G	C	11: 23,438,982 (GRCm39)	D3515H	probably damaging	Het
Wdr91	T	C	6: 34,887,726 (GRCm39)	E10G	probably damaging	Het
Xdh	A	T	17: 74,205,965 (GRCm39)	F1016L	probably benign	Het
Zfp235	T	G	7: 23,841,609 (GRCm39)	I676S	possibly damaging	Het
Zfp619	G	A	7: 39,186,811 (GRCm39)	C947Y	probably damaging	Het
Zfp663	A	G	2: 165,195,731 (GRCm39)	S163P	probably damaging	Het
Zswim4	C	T	8: 84,953,296 (GRCm39)		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
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
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'- TCCTCACCCAGCATTGTGT -3'
(R):5'- GACTGGAGGCATGACTGAAGC -3'

Sequencing Primer
(F):5'- CTCACCCAGCATTGTGTTTATAGAG -3'
(R):5'- GTTGCCACTTAAGCTGAAGC -3'

Posted On

2016-04-27