Mutagenetix > Incidental Mutation

Incidental Mutation 'R9746:Zfp111'

732118

Institutional Source

Beutler Lab

Gene Symbol

Zfp111

Ensembl Gene

ENSMUSG00000087598

Gene Name

zinc finger protein 111

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9746 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

24193947-24211443 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 24198642 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 516 (P516S)

Ref Sequence

ENSEMBL: ENSMUSP00000129484 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056683] [ENSMUST00000073833] [ENSMUST00000086006]

AlphaFold

Q9R164

Predicted Effect

possibly damaging
Transcript: ENSMUST00000056683
AA Change: P516S

PolyPhen 2 Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000129484
Gene: ENSMUSG00000087598
AA Change: P516S

Domain	Start	End	E-Value	Type
KRAB	9	64	1.8e-21	SMART
low complexity region	114	128	N/A	INTRINSIC
ZnF_C2H2	210	232	2.3e-7	SMART
ZnF_C2H2	266	288	5.7e-4	SMART
ZnF_C2H2	294	316	3.3e-4	SMART
ZnF_C2H2	322	343	4.3e-1	SMART
ZnF_C2H2	349	371	4.5e-8	SMART
ZnF_C2H2	377	399	2.1e-6	SMART
ZnF_C2H2	405	427	8e-6	SMART
ZnF_C2H2	433	455	9.9e-5	SMART
ZnF_C2H2	461	481	4.3e-2	SMART
ZnF_C2H2	489	511	2.7e-5	SMART
ZnF_C2H2	517	539	1.1e-6	SMART
ZnF_C2H2	545	567	1.8e-5	SMART
ZnF_C2H2	573	595	3.5e-6	SMART
ZnF_C2H2	601	623	2.9e-6	SMART
ZnF_C2H2	629	651	1.3e-6	SMART
ZnF_C2H2	657	679	2.2e-5	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000073833
AA Change: P515S

PolyPhen 2 Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000083174
Gene: ENSMUSG00000087598
AA Change: P515S

Domain	Start	End	E-Value	Type
KRAB	8	63	4.03e-19	SMART
low complexity region	113	127	N/A	INTRINSIC
ZnF_C2H2	209	231	5.29e-5	SMART
ZnF_C2H2	265	287	1.33e-1	SMART
ZnF_C2H2	293	315	7.67e-2	SMART
ZnF_C2H2	321	342	1.01e2	SMART
ZnF_C2H2	348	370	1e-5	SMART
ZnF_C2H2	376	398	4.87e-4	SMART
ZnF_C2H2	404	426	1.82e-3	SMART
ZnF_C2H2	432	454	2.36e-2	SMART
ZnF_C2H2	460	480	9.96e0	SMART
ZnF_C2H2	488	510	6.32e-3	SMART
ZnF_C2H2	516	538	2.61e-4	SMART
ZnF_C2H2	544	566	4.17e-3	SMART
ZnF_C2H2	572	594	7.9e-4	SMART
ZnF_C2H2	600	622	6.88e-4	SMART
ZnF_C2H2	628	650	3.21e-4	SMART
ZnF_C2H2	656	678	5.14e-3	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000086006
AA Change: P515S

PolyPhen 2 Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000083169
Gene: ENSMUSG00000087598
AA Change: P515S

Domain	Start	End	E-Value	Type
KRAB	8	63	4.03e-19	SMART
low complexity region	113	127	N/A	INTRINSIC
ZnF_C2H2	209	231	5.29e-5	SMART
ZnF_C2H2	265	287	1.33e-1	SMART
ZnF_C2H2	293	315	7.67e-2	SMART
ZnF_C2H2	321	342	1.01e2	SMART
ZnF_C2H2	348	370	1e-5	SMART
ZnF_C2H2	376	398	4.87e-4	SMART
ZnF_C2H2	404	426	1.82e-3	SMART
ZnF_C2H2	432	454	2.36e-2	SMART
ZnF_C2H2	460	480	9.96e0	SMART
ZnF_C2H2	488	510	6.32e-3	SMART
ZnF_C2H2	516	538	2.61e-4	SMART
ZnF_C2H2	544	566	4.17e-3	SMART
ZnF_C2H2	572	594	7.9e-4	SMART
ZnF_C2H2	600	622	6.88e-4	SMART
ZnF_C2H2	628	650	3.21e-4	SMART
ZnF_C2H2	656	678	5.14e-3	SMART

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.2%
20x: 98.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ackr1	T	A	1: 173,332,031	H307L	probably benign	Het
Acnat1	A	T	4: 49,450,652	L153H	probably damaging	Het
Actn4	A	T	7: 28,919,006	D76E	probably benign	Het
Afdn	A	C	17: 13,846,520	M640L	probably benign	Het
Angpt1	A	T	15: 42,676,441	F7L	probably benign	Het
Ap3b2	A	G	7: 81,476,344	F373S	probably damaging	Het
Armc2	T	A	10: 41,924,461	Y650F	probably damaging	Het
Atg2b	G	T	12: 105,663,938	T398K	possibly damaging	Het
Baz1a	CCATT	CCATTCATT	12: 54,975,110		probably null	Het
Capn8	G	A	1: 182,611,105		probably null	Het
Cdr1	AAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCC	AAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCC	X: 61,184,524		probably benign	Het
Cfap54	T	C	10: 92,801,219	N3103D	probably benign	Het
Chd9	G	A	8: 91,011,435	R1565Q	unknown	Het
Cir1	G	A	2: 73,303,808	T139I	probably damaging	Het
Cmah	T	C	13: 24,435,690		probably null	Het
Cnpy1	T	C	5: 28,245,802	D2G	probably damaging	Het
Dennd4a	A	T	9: 64,894,511	T979S	probably benign	Het
Dnah11	T	A	12: 117,878,576	K4423*	probably null	Het
Dnajb4	A	G	3: 152,186,683	I171T	possibly damaging	Het
Dpm1	A	T	2: 168,230,387		probably null	Het
Dtwd1	A	G	2: 126,154,675	T27A	probably benign	Het
Ep400	C	T	5: 110,742,006	D464N	unknown	Het
Epb42	A	T	2: 121,024,610	I498N	probably benign	Het
Fhod1	A	G	8: 105,337,416	V219A	unknown	Het
Gabrb2	A	T	11: 42,626,609	E419D	probably benign	Het
Galnt18	A	T	7: 111,471,961	N615K	possibly damaging	Het
Gm13084	T	C	4: 143,810,316	T482A	probably benign	Het
Gm29106	T	A	1: 118,199,524	H315Q	possibly damaging	Het
Gprin2	G	T	14: 34,195,658	Q52K	probably benign	Het
Grm4	A	T	17: 27,438,791	Y414N	probably damaging	Het
Gulo	C	A	14: 65,988,181		probably null	Het
H2-M1	A	C	17: 36,670,105	V313G	possibly damaging	Het
Hectd3	T	C	4: 116,995,754	W118R	probably damaging	Het
Hs6st3	G	A	14: 119,869,080	C300Y	probably damaging	Het
Il1rl2	T	A	1: 40,365,359	S547T	possibly damaging	Het
Kank1	G	T	19: 25,409,508	V182F	probably damaging	Het
Kif20b	T	A	19: 34,950,749	L1137*	probably null	Het
Klhl7	A	G	5: 24,126,820		probably null	Het
Krt13	T	A	11: 100,121,161	D112V	possibly damaging	Het
Ltbr	A	G	6: 125,313,101	V71A	probably benign	Het
Ly6g	T	C	15: 75,158,609	V92A	probably benign	Het
Map2k3	G	A	11: 60,932,103		probably benign	Het
Mast2	A	C	4: 116,311,730	D842E	probably benign	Het
Mpo	T	G	11: 87,803,523	M693R	probably benign	Het
Myo15	C	A	11: 60,487,408	S212*	probably null	Het
Nadk2	C	T	15: 9,106,736	R37*	probably null	Het
Ncapd3	G	A	9: 27,063,359	R709H	probably benign	Het
Nck2	T	A	1: 43,533,732	Y55*	probably null	Het
Neurl4	A	G	11: 69,907,475	D777G	probably damaging	Het
Npr2	G	A	4: 43,633,527	V224M	possibly damaging	Het
Nptx2	T	A	5: 144,548,140	S148T	probably benign	Het
Nr1d1	T	C	11: 98,770,334	T369A	probably benign	Het
Nub1	T	G	5: 24,703,485	F411V	probably damaging	Het
Nup188	T	A	2: 30,304,288	Y158N	probably damaging	Het
Olfr1031	A	G	2: 85,992,747	Y310C	probably benign	Het
Olfr513	A	G	7: 108,755,432	N192S	probably benign	Het
Olfr716	A	T	7: 107,147,453	I46F	probably benign	Het
Olfr804	A	T	10: 129,705,339	I154F	probably damaging	Het
Olfr897-ps1	T	A	9: 38,309,632	I279K	unknown	Het
Orc2	C	T	1: 58,497,451	G85S	probably damaging	Het
Pak1ip1	T	A	13: 41,009,267	V182D	probably damaging	Het
Parvg	T	G	15: 84,326,223	C30W	probably benign	Het
Pcdha1	T	A	18: 36,932,660	D792E	probably benign	Het
Ppp1r13b	G	T	12: 111,833,808	Q635K	probably benign	Het
Psg16	A	G	7: 17,098,161	I341V	probably benign	Het
Psme4	C	T	11: 30,876,868	Q1796*	probably null	Het
Ptn	T	G	6: 36,715,764		probably null	Het
Rapsn	C	T	2: 91,045,478	P400L	probably damaging	Het
Rasal1	G	A	5: 120,662,293	G207D	probably damaging	Het
Rdx	A	G	9: 52,063,578	I5V	probably benign	Het
Rpf1	A	G	3: 146,517,778	I105T	probably damaging	Het
Rps15a	A	T	7: 118,109,997	F79I	possibly damaging	Het
Rwdd2b	G	A	16: 87,436,753	P153L	probably benign	Het
Scaf11	G	A	15: 96,420,417	S422L	probably damaging	Het
Serpinb3b	T	A	1: 107,154,673	E287V	possibly damaging	Het
Sgta	T	C	10: 81,051,284	D49G	possibly damaging	Het
Sin3a	T	A	9: 57,118,074	M1068K	probably benign	Het
Slc12a9	G	A	5: 137,321,409	R615W	probably damaging	Het
Slc26a3	T	A	12: 31,449,146	S151T	probably benign	Het
Slc4a8	C	A	15: 100,783,840	H111N	probably damaging	Het
Syngr1	G	A	15: 80,091,458	R22K	probably benign	Het
Tars2	A	T	3: 95,754,765	V25E	probably benign	Het
Tbx15	A	G	3: 99,352,331	Y506C	probably damaging	Het
Tgm4	A	T	9: 123,046,569	K162N	possibly damaging	Het
Tmem253	A	G	14: 52,017,982	E83G	probably damaging	Het
Trp73	G	A	4: 154,081,402	T118I	probably damaging	Het
Trpm7	A	G	2: 126,822,658	S934P	possibly damaging	Het
Ttc23l	G	A	15: 10,523,643	S330L	probably benign	Het
Tub	A	C	7: 109,025,638	D199A	probably benign	Het
Uri1	A	C	7: 37,996,685		probably null	Het
Usp16	C	T	16: 87,479,232	A486V	probably benign	Het
Vmn1r12	A	G	6: 57,159,541	I208V	probably benign	Het
Vmn2r116	A	T	17: 23,401,823	M844L	probably benign	Het
Vmn2r13	C	T	5: 109,191,907		probably null	Het
Xpnpep1	T	C	19: 53,013,461	D118G	probably damaging	Het

Other mutations in Zfp111

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02569:Zfp111	APN	7	24207069	missense	possibly damaging	0.91
IGL02619:Zfp111	APN	7	24199688	missense	possibly damaging	0.75
FR4737:Zfp111	UTSW	7	24199805	small insertion	probably benign
FR4976:Zfp111	UTSW	7	24199037	missense	probably damaging	0.97
FR4976:Zfp111	UTSW	7	24199807	small insertion	probably benign
R0514:Zfp111	UTSW	7	24199143	missense	probably damaging	0.96
R3837:Zfp111	UTSW	7	24199466	missense	possibly damaging	0.53
R4682:Zfp111	UTSW	7	24199138	missense	probably damaging	0.98
R4844:Zfp111	UTSW	7	24199376	missense	probably damaging	0.99
R6105:Zfp111	UTSW	7	24203366	splice site	probably null
R6175:Zfp111	UTSW	7	24198129	missense	unknown
R7276:Zfp111	UTSW	7	24199553	missense	probably damaging	1.00
R7584:Zfp111	UTSW	7	24198600	missense	possibly damaging	0.89
R8682:Zfp111	UTSW	7	24198558	missense	probably damaging	0.99
R9655:Zfp111	UTSW	7	24199118	missense	probably damaging	0.99
X0018:Zfp111	UTSW	7	24199991	missense	possibly damaging	0.96

Predicted Primers

PCR Primer
(F):5'- GAGGCCCTTCCCATACTGC -3'
(R):5'- CAGTCGGACTTCATACCTTCA -3'

Sequencing Primer
(F):5'- ACACCGGTCACATTTGTAGG -3'
(R):5'- GAAGGGCTTCACTCAGTTGTCAC -3'

Posted On

2022-11-14