Mutagenetix > Incidental Mutation

Incidental Mutation 'R0143:Zfp81'

22468

Institutional Source

Beutler Lab

Gene Symbol

Zfp81

Ensembl Gene

ENSMUSG00000003929

Gene Name

zinc finger protein 81

Synonyms

Hszfp36, D330034E10Rik, KRAB13, C330034P10Rik, Zfp78

MMRRC Submission

038428-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.303) question?

Stock #

R0143 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

33548316-33577852 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 33554095 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 240 (H240Y)

Ref Sequence

ENSEMBL: ENSMUSP00000050728 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054072]

AlphaFold

B8JJZ7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000054072
AA Change: H240Y

PolyPhen 2 Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000050728
Gene: ENSMUSG00000003929
AA Change: H240Y

Domain	Start	End	E-Value	Type
KRAB	4	55	1.15e-14	SMART
ZnF_C2H2	222	244	1.04e-3	SMART
ZnF_C2H2	250	272	1.53e-1	SMART
ZnF_C2H2	278	300	1.33e-1	SMART
ZnF_C2H2	306	328	5.21e-4	SMART
ZnF_C2H2	334	356	2.2e-2	SMART
ZnF_C2H2	362	384	1.58e-3	SMART
ZnF_C2H2	390	412	1.64e-1	SMART
ZnF_C2H2	418	440	7.67e-2	SMART
ZnF_C2H2	446	468	1.89e-1	SMART
ZnF_C2H2	474	496	2.86e-1	SMART
ZnF_C2H2	502	524	1.08e-1	SMART

Meta Mutation Damage Score

0.8307

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.6%
20x: 93.6%

Validation Efficiency

97% (76/78)

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim3	A	T	18: 61,988,288 (GRCm39)	I145N	probably benign	Het
Ankrd1	G	A	19: 36,096,713 (GRCm39)	A38V	probably benign	Het
Ankrd34b	A	G	13: 92,576,268 (GRCm39)	E500G	probably damaging	Het
Arhgef12	T	C	9: 42,916,890 (GRCm39)	T419A	probably damaging	Het
B3galt2	A	T	1: 143,523,072 (GRCm39)	N403Y	possibly damaging	Het
Bbx	C	T	16: 50,100,755 (GRCm39)	E47K	probably benign	Het
C4b	G	A	17: 34,953,193 (GRCm39)		probably benign	Het
Cacna1e	A	T	1: 154,324,693 (GRCm39)		probably null	Het
Cdh3	T	C	8: 107,237,857 (GRCm39)	V17A	probably benign	Het
Cog7	A	T	7: 121,550,387 (GRCm39)	L379Q	probably damaging	Het
Cul9	T	C	17: 46,837,336 (GRCm39)	N1044S	possibly damaging	Het
Cyp4b1	C	T	4: 115,493,071 (GRCm39)	D258N	probably damaging	Het
Ddx39a	T	C	8: 84,447,179 (GRCm39)	V113A	probably benign	Het
Dennd4b	A	T	3: 90,179,671 (GRCm39)	H643L	probably damaging	Het
Dpy19l3	T	C	7: 35,413,640 (GRCm39)	T334A	probably benign	Het
Dsg3	T	C	18: 20,669,882 (GRCm39)	L632S	probably damaging	Het
Dtx4	G	A	19: 12,463,846 (GRCm39)	T312I	probably damaging	Het
Dusp18	C	T	11: 3,847,243 (GRCm39)	R78C	probably benign	Het
Fes	A	C	7: 80,033,643 (GRCm39)	F203V	probably benign	Het
Fhad1	C	A	4: 141,656,957 (GRCm39)		probably benign	Het
Gjb2	T	C	14: 57,337,526 (GRCm39)		silent	Het
Gm5828	T	C	1: 16,838,579 (GRCm39)		noncoding transcript	Het
Gsdma	A	C	11: 98,557,080 (GRCm39)	E65A	probably damaging	Het
Hck	T	A	2: 152,976,140 (GRCm39)		probably null	Het
Henmt1	A	T	3: 108,861,118 (GRCm39)	H47L	probably damaging	Het
Hivep2	T	C	10: 14,005,099 (GRCm39)	F566L	probably damaging	Het
Hnrnpl	T	C	7: 28,513,617 (GRCm39)		probably benign	Het
Igsf3	T	C	3: 101,342,917 (GRCm39)	I518T	probably damaging	Het
Ireb2	T	C	9: 54,793,193 (GRCm39)	F223L	probably benign	Het
Isoc2a	T	C	7: 4,894,331 (GRCm39)		probably null	Het
Krt73	T	A	15: 101,709,208 (GRCm39)	R200W	probably damaging	Het
Lgals9	T	A	11: 78,854,361 (GRCm39)	I308F	probably damaging	Het
Lrp1	A	G	10: 127,429,811 (GRCm39)	F420L	probably damaging	Het
Mep1b	T	C	18: 21,228,164 (GRCm39)		probably benign	Het
Mex3a	G	T	3: 88,443,562 (GRCm39)	A213S	probably benign	Het
Mmp13	T	C	9: 7,276,558 (GRCm39)	F218L	probably damaging	Het
Ncf1	G	T	5: 134,255,991 (GRCm39)		probably benign	Het
Notch2	A	G	3: 98,053,433 (GRCm39)	D2032G	probably damaging	Het
Or10h28	T	C	17: 33,488,471 (GRCm39)	S258P	probably damaging	Het
Or5p1	A	G	7: 107,916,202 (GRCm39)	I34V	probably benign	Het
Or9i1b	A	C	19: 13,896,614 (GRCm39)	I77L	probably damaging	Het
Pex16	G	A	2: 92,210,802 (GRCm39)	G312D	probably damaging	Het
Pex5	A	T	6: 124,375,448 (GRCm39)	W525R	probably damaging	Het
Plcb4	T	A	2: 135,818,131 (GRCm39)	I799N	probably damaging	Het
Poldip3	G	A	15: 83,012,144 (GRCm39)	L372F	probably damaging	Het
Polg2	C	A	11: 106,668,352 (GRCm39)	V174L	probably benign	Het
Prrt4	C	G	6: 29,170,670 (GRCm39)	G594A	probably damaging	Het
Prss1	A	G	6: 41,440,522 (GRCm39)	D199G	probably damaging	Het
Rbms2	T	A	10: 127,973,823 (GRCm39)	Q207L	probably benign	Het
Retreg2	A	G	1: 75,123,074 (GRCm39)	D334G	possibly damaging	Het
Slc6a15	T	G	10: 103,253,929 (GRCm39)	C622G	probably benign	Het
Spdya	T	A	17: 71,865,635 (GRCm39)	D84E	probably damaging	Het
Stat3	A	T	11: 100,785,982 (GRCm39)	S432T	possibly damaging	Het
Tiam1	A	T	16: 89,695,088 (GRCm39)	V123E	probably benign	Het
Tnpo3	A	G	6: 29,565,651 (GRCm39)		probably benign	Het
Tnrc6c	A	C	11: 117,643,811 (GRCm39)	N1481H	probably damaging	Het
Top3b	T	C	16: 16,701,389 (GRCm39)	S234P	probably damaging	Het
Tor1aip2	A	T	1: 155,935,294 (GRCm39)	T10S	probably benign	Het
Tpsab1	T	A	17: 25,562,418 (GRCm39)	H303L	probably benign	Het
Traf3	T	A	12: 111,228,010 (GRCm39)	V407D	probably damaging	Het
Trim33	T	A	3: 103,259,417 (GRCm39)	D1035E	probably benign	Het
Ttc38	T	C	15: 85,737,920 (GRCm39)	V402A	possibly damaging	Het
Ube4b	C	T	4: 149,439,914 (GRCm39)	R646H	possibly damaging	Het
Usp8	C	A	2: 126,597,009 (GRCm39)		probably benign	Het
Zdbf2	A	T	1: 63,347,233 (GRCm39)	I1871F	probably benign	Het
Zfp345	T	A	2: 150,314,475 (GRCm39)	Q354L	probably benign	Het
Zfp462	C	A	4: 55,023,402 (GRCm39)		probably benign	Het
Zfp830	A	G	11: 82,655,994 (GRCm39)	D266G	possibly damaging	Het

Other mutations in Zfp81

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
feuer	UTSW	17	33,553,307 (GRCm39)	nonsense	probably null
R0220:Zfp81	UTSW	17	33,555,698 (GRCm39)	missense	possibly damaging	0.93
R0520:Zfp81	UTSW	17	33,553,351 (GRCm39)	missense	probably damaging	0.97
R0611:Zfp81	UTSW	17	33,553,593 (GRCm39)	missense	probably benign	0.02
R1171:Zfp81	UTSW	17	33,554,254 (GRCm39)	missense	probably benign
R1613:Zfp81	UTSW	17	33,553,757 (GRCm39)	missense	probably damaging	0.98
R1779:Zfp81	UTSW	17	33,554,080 (GRCm39)	missense	probably benign	0.06
R1970:Zfp81	UTSW	17	33,554,475 (GRCm39)	missense	probably benign
R2063:Zfp81	UTSW	17	33,554,278 (GRCm39)	missense	probably benign	0.03
R2314:Zfp81	UTSW	17	33,553,597 (GRCm39)	missense	probably damaging	0.99
R2898:Zfp81	UTSW	17	33,553,274 (GRCm39)	nonsense	probably null
R3115:Zfp81	UTSW	17	33,553,537 (GRCm39)	missense	possibly damaging	0.80
R4207:Zfp81	UTSW	17	33,553,890 (GRCm39)	missense	probably damaging	1.00
R4497:Zfp81	UTSW	17	33,553,677 (GRCm39)	missense	possibly damaging	0.47
R4498:Zfp81	UTSW	17	33,553,677 (GRCm39)	missense	possibly damaging	0.47
R5756:Zfp81	UTSW	17	33,553,307 (GRCm39)	nonsense	probably null
R5964:Zfp81	UTSW	17	33,555,819 (GRCm39)	missense	probably damaging	0.99
R6671:Zfp81	UTSW	17	33,554,413 (GRCm39)	missense	probably benign	0.17
R7728:Zfp81	UTSW	17	33,555,791 (GRCm39)	missense	possibly damaging	0.95
R9047:Zfp81	UTSW	17	33,553,387 (GRCm39)	missense	probably damaging	1.00
R9561:Zfp81	UTSW	17	33,553,774 (GRCm39)	missense	probably benign	0.15
R9800:Zfp81	UTSW	17	33,554,411 (GRCm39)	nonsense	probably null
Z1176:Zfp81	UTSW	17	33,553,803 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- TGCGAAGGTACGAAGAACGTCC -3'
(R):5'- CTTGCCCATGAGAATCCTCCCAAAG -3'

Sequencing Primer
(F):5'- GTACGAAGAACGTCCGAATACTTTC -3'
(R):5'- CTGTAGGAGTCTCACTTCTGATCAAG -3'

Posted On

2013-04-16