Mutagenetix > Incidental Mutation

Incidental Mutation 'R4207:Zfp81'

318999

Institutional Source

Beutler Lab

Gene Symbol

Zfp81

Ensembl Gene

ENSMUSG00000003929

Gene Name

zinc finger protein 81

Synonyms

KRAB13, Zfp78, Hszfp36, C330034P10Rik, D330034E10Rik

MMRRC Submission

041036-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.299) question?

Stock #

R4207 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

33329342-33358878 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 33334916 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 308 (C308Y)

Ref Sequence

ENSEMBL: ENSMUSP00000050728 (fasta)

Gene Model

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

AlphaFold

B8JJZ7

Predicted Effect

probably damaging
Transcript: ENSMUST00000054072
AA Change: C308Y

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000050728
Gene: ENSMUSG00000003929
AA Change: C308Y

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

0.4244

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.5%

Validation Efficiency

100% (60/60)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	G	A	11: 109,981,725	Q17*	probably null	Het
Acap2	T	A	16: 31,119,427	N293I	probably damaging	Het
Adgrg4	G	A	X: 56,918,749	V1893I	possibly damaging	Het
Aff1	T	C	5: 103,818,988		probably null	Het
Ap1b1	A	G	11: 5,031,637	D515G	probably damaging	Het
Brk1	T	C	6: 113,615,844	Y63H	possibly damaging	Het
Cand1	T	C	10: 119,211,845	D580G	probably damaging	Het
Casp4	A	G	9: 5,328,451	D311G	probably benign	Het
Crygs	C	T	16: 22,805,551	G102D	possibly damaging	Het
Ctnnd2	G	T	15: 30,972,827	V1033F	probably damaging	Het
Dhx29	G	T	13: 112,927,949	A53S	probably benign	Het
Dis3	T	G	14: 99,095,316	I227L	probably benign	Het
Efhc2	T	C	X: 17,230,550	N186S	possibly damaging	Het
Efl1	T	C	7: 82,750,816	V592A	probably damaging	Het
Elovl7	A	T	13: 108,282,506	Q224L	possibly damaging	Het
Fcgr3	T	A	1: 171,054,075	K160N	probably benign	Het
Flg	A	G	3: 93,279,862	Y207C	probably benign	Het
Fmn2	A	G	1: 174,581,955	T585A	unknown	Het
Gm7135	T	C	1: 97,469,895		noncoding transcript	Het
Gm8104	G	T	14: 43,101,634	D94Y	probably damaging	Het
Hjurp	G	C	1: 88,277,215		probably benign	Het
Ino80b	G	C	6: 83,122,333	P178R	probably damaging	Het
Kbtbd4	T	C	2: 90,909,755	F495L	probably damaging	Het
Lingo2	T	C	4: 35,709,810	I57V	probably benign	Het
Me2	T	C	18: 73,791,085	K352R	probably benign	Het
Mthfsd	A	G	8: 121,105,626	V133A	probably damaging	Het
Nav2	T	A	7: 49,572,298		probably null	Het
Nav2	T	A	7: 49,597,231	I2168N	probably damaging	Het
Nlrp10	T	A	7: 108,924,341	D644V	possibly damaging	Het
Olfr1472	T	C	19: 13,454,471	I15M	probably benign	Het
Olfr148	A	G	9: 39,613,957	Y130C	possibly damaging	Het
Olfr15	T	C	16: 3,839,570	L199P	probably damaging	Het
Oplah	C	T	15: 76,302,710	R635H	probably damaging	Het
Peli1	A	G	11: 21,147,115		probably null	Het
Pfkfb1	A	T	X: 150,622,188	D208V	possibly damaging	Het
Pld5	T	G	1: 175,993,875	T242P	probably damaging	Het
Rbm5	A	G	9: 107,750,483	S420P	probably benign	Het
Rhag	A	T	17: 40,831,653	I250F	probably damaging	Het
Rnase4	A	G	14: 51,105,005	K62R	probably benign	Het
Scaf4	C	T	16: 90,260,215	V83I	unknown	Het
Slc24a2	A	G	4: 87,227,205	V204A	probably damaging	Het
Slc5a8	G	T	10: 88,911,413	L409F	probably damaging	Het
Spns3	A	T	11: 72,538,361	V199E	probably damaging	Het
Sspo	A	G	6: 48,478,293	T3030A	probably benign	Het
Sstr2	A	C	11: 113,624,656	T134P	probably damaging	Het
Stk39	G	T	2: 68,220,920	T527K	probably benign	Het
Sult2a1	T	A	7: 13,801,547	T194S	probably benign	Het
Tamm41	AGGG	AGG	6: 115,012,359		probably benign	Het
Trav7-3	A	G	14: 53,443,746	T82A	probably benign	Het
Umodl1	G	A	17: 30,959,367	V106I	probably damaging	Het
Vmn2r85	A	C	10: 130,418,705	C703W	probably damaging	Het
Vmn2r92	G	A	17: 18,184,261	V556M	possibly damaging	Het
Zfp292	T	C	4: 34,806,079	I2322V	probably benign	Het
Zfp644	T	C	5: 106,618,276	E93G	probably damaging	Het

Other mutations in Zfp81

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
feuer	UTSW	17	33334333	nonsense	probably null
R0143:Zfp81	UTSW	17	33335121	missense	possibly damaging	0.85
R0220:Zfp81	UTSW	17	33336724	missense	possibly damaging	0.93
R0520:Zfp81	UTSW	17	33334377	missense	probably damaging	0.97
R0611:Zfp81	UTSW	17	33334619	missense	probably benign	0.02
R1171:Zfp81	UTSW	17	33335280	missense	probably benign
R1613:Zfp81	UTSW	17	33334783	missense	probably damaging	0.98
R1779:Zfp81	UTSW	17	33335106	missense	probably benign	0.06
R1970:Zfp81	UTSW	17	33335501	missense	probably benign
R2063:Zfp81	UTSW	17	33335304	missense	probably benign	0.03
R2314:Zfp81	UTSW	17	33334623	missense	probably damaging	0.99
R2898:Zfp81	UTSW	17	33334300	nonsense	probably null
R3115:Zfp81	UTSW	17	33334563	missense	possibly damaging	0.80
R4497:Zfp81	UTSW	17	33334703	missense	possibly damaging	0.47
R4498:Zfp81	UTSW	17	33334703	missense	possibly damaging	0.47
R5756:Zfp81	UTSW	17	33334333	nonsense	probably null
R5964:Zfp81	UTSW	17	33336845	missense	probably damaging	0.99
R6671:Zfp81	UTSW	17	33335439	missense	probably benign	0.17
R7728:Zfp81	UTSW	17	33336817	missense	possibly damaging	0.95
R9047:Zfp81	UTSW	17	33334413	missense	probably damaging	1.00
R9561:Zfp81	UTSW	17	33334800	missense	probably benign	0.15
R9800:Zfp81	UTSW	17	33335437	nonsense	probably null
Z1176:Zfp81	UTSW	17	33334829	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- TACATTGGTATAAGTTCTACCCACTAG -3'
(R):5'- ATGTAGTTATGGTCAGTCATATGAAAG -3'

Sequencing Primer
(F):5'- ATAGGTGAAGGCTTTCCCAC -3'
(R):5'- GGAGAAGCCTTTGTTAATTCCAGTC -3'

Posted On

2015-06-10