Mutagenetix > Incidental Mutation

Incidental Mutation 'R3837:Zfp111'

275696

Institutional Source

Beutler Lab

Gene Symbol

Zfp111

Ensembl Gene

ENSMUSG00000087598

Gene Name

zinc finger protein 111

Synonyms

MMRRC Submission

040778-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3837 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

23890760-23907574 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 23898891 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 241 (N241S)

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: N241S

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000129484
Gene: ENSMUSG00000087598
AA Change: N241S

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

probably benign
Transcript: ENSMUST00000073833
AA Change: N240S

PolyPhen 2 Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000083174
Gene: ENSMUSG00000087598
AA Change: N240S

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

probably benign
Transcript: ENSMUST00000086006
AA Change: N240S

PolyPhen 2 Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000083169
Gene: ENSMUSG00000087598
AA Change: N240S

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

noncoding transcript
Transcript: ENSMUST00000148050

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160563

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

98% (52/53)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700028I16Rik	A	G	10: 82,648,219 (GRCm39)		noncoding transcript	Het
4930474N05Rik	G	A	14: 35,817,435 (GRCm39)	G112S	probably benign	Het
Adam24	T	C	8: 41,133,584 (GRCm39)	S351P	probably benign	Het
Amigo2	T	C	15: 97,143,196 (GRCm39)	I409V	probably damaging	Het
Arhgef25	T	C	10: 127,025,605 (GRCm39)	T12A	probably benign	Het
Atg10	A	T	13: 91,085,499 (GRCm39)	I150K	probably damaging	Het
AW551984	T	C	9: 39,509,204 (GRCm39)		probably benign	Het
Cdc20b	T	C	13: 113,220,542 (GRCm39)	W432R	probably damaging	Het
Cdh9	G	T	15: 16,823,524 (GRCm39)	E169*	probably null	Het
Col28a1	C	T	6: 8,014,601 (GRCm39)	V935M	possibly damaging	Het
Col6a3	T	C	1: 90,707,803 (GRCm39)	N1948D	unknown	Het
Dnajb2	G	A	1: 75,218,124 (GRCm39)		probably null	Het
Fam13c	C	T	10: 70,378,478 (GRCm39)	S336L	probably damaging	Het
Fn1	A	T	1: 71,692,314 (GRCm39)		probably null	Het
Fryl	T	C	5: 73,228,608 (GRCm39)	T1708A	probably benign	Het
Gcnt4	A	T	13: 97,083,522 (GRCm39)	R273*	probably null	Het
Gldc	T	A	19: 30,096,075 (GRCm39)		probably benign	Het
Glra2	C	T	X: 164,072,612 (GRCm39)	V85I	probably benign	Het
Gm11562	A	G	11: 99,511,026 (GRCm39)	I58T	possibly damaging	Het
Gpam	T	C	19: 55,068,890 (GRCm39)	N450S	probably benign	Het
Hivep2	C	A	10: 14,004,713 (GRCm39)	T437K	probably benign	Het
Hmcn2	T	C	2: 31,303,419 (GRCm39)	L3020P	probably damaging	Het
Hmgcr	A	G	13: 96,795,597 (GRCm39)	I324T	probably benign	Het
Itih1	T	A	14: 30,657,785 (GRCm39)	N429Y	probably damaging	Het
Lamtor1	T	C	7: 101,559,315 (GRCm39)		probably null	Het
Lrrd1	A	T	5: 3,900,204 (GRCm39)	I170L	possibly damaging	Het
Magi2	G	A	5: 20,420,466 (GRCm39)	D301N	probably benign	Het
Mid1ip1	T	C	X: 10,584,620 (GRCm39)	V51A	possibly damaging	Het
Mmrn1	G	A	6: 60,921,831 (GRCm39)	S96N	probably benign	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Msh3	C	A	13: 92,491,366 (GRCm39)	G15C	probably damaging	Het
Myl12b	C	A	17: 71,281,480 (GRCm39)	E120*	probably null	Het
Myo3a	T	G	2: 22,455,121 (GRCm39)		probably benign	Het
Nagk	A	T	6: 83,778,139 (GRCm39)	H245L	possibly damaging	Het
Nap1l1	T	A	10: 111,331,183 (GRCm39)		probably null	Het
Nlrc5	A	G	8: 95,237,929 (GRCm39)		probably benign	Het
Ogfrl1	G	A	1: 23,409,041 (GRCm39)	T395I	probably benign	Het
Polr1b	T	A	2: 128,961,027 (GRCm39)	F662Y	possibly damaging	Het
Rrbp1	T	C	2: 143,831,478 (GRCm39)	K230E	probably damaging	Het
Shld2	A	G	14: 33,971,142 (GRCm39)	V581A	probably damaging	Het
Skap2	C	T	6: 51,886,279 (GRCm39)		probably null	Het
Skint5	A	T	4: 113,797,938 (GRCm39)	M215K	probably damaging	Het
Slc17a4	C	T	13: 24,085,752 (GRCm39)	R387H	probably benign	Het
Tdp1	A	G	12: 99,860,967 (GRCm39)		probably null	Het
Tlr3	G	A	8: 45,849,976 (GRCm39)	L898F	probably damaging	Het
Tmem210	A	G	2: 25,178,444 (GRCm39)	E35G	possibly damaging	Het
Tpbg	T	C	9: 85,725,167 (GRCm39)		probably benign	Het
Tubb2a	G	T	13: 34,259,294 (GRCm39)	N165K	probably benign	Het
Usp14	A	G	18: 10,024,532 (GRCm39)		probably null	Het
Vmn1r33	A	T	6: 66,588,701 (GRCm39)	D284E	possibly damaging	Het
Wnk1	T	C	6: 119,927,004 (GRCm39)	E1265G	probably damaging	Het
Yme1l1	A	T	2: 23,081,092 (GRCm39)	T455S	possibly damaging	Het

Other mutations in Zfp111

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02569:Zfp111	APN	7	23,906,494 (GRCm39)	missense	possibly damaging	0.91
IGL02619:Zfp111	APN	7	23,899,113 (GRCm39)	missense	possibly damaging	0.75
FR4737:Zfp111	UTSW	7	23,899,230 (GRCm39)	small insertion	probably benign
FR4976:Zfp111	UTSW	7	23,899,232 (GRCm39)	small insertion	probably benign
FR4976:Zfp111	UTSW	7	23,898,462 (GRCm39)	missense	probably damaging	0.97
R0514:Zfp111	UTSW	7	23,898,568 (GRCm39)	missense	probably damaging	0.96
R4682:Zfp111	UTSW	7	23,898,563 (GRCm39)	missense	probably damaging	0.98
R4844:Zfp111	UTSW	7	23,898,801 (GRCm39)	missense	probably damaging	0.99
R6105:Zfp111	UTSW	7	23,902,791 (GRCm39)	splice site	probably null
R6175:Zfp111	UTSW	7	23,897,554 (GRCm39)	missense	unknown
R7276:Zfp111	UTSW	7	23,898,978 (GRCm39)	missense	probably damaging	1.00
R7584:Zfp111	UTSW	7	23,898,025 (GRCm39)	missense	possibly damaging	0.89
R8682:Zfp111	UTSW	7	23,897,983 (GRCm39)	missense	probably damaging	0.99
R9655:Zfp111	UTSW	7	23,898,543 (GRCm39)	missense	probably damaging	0.99
R9746:Zfp111	UTSW	7	23,898,067 (GRCm39)	missense	possibly damaging	0.93
X0018:Zfp111	UTSW	7	23,899,416 (GRCm39)	missense	possibly damaging	0.96

Predicted Primers

PCR Primer
(F):5'- CTCAAGTTGAAGGGCTTCCC -3'
(R):5'- ACATAGTACGCAGGAGGACACC -3'

Sequencing Primer
(F):5'- AATCACACTTGGACGGTTTGC -3'
(R):5'- ACACCAGGCATAGCTTCAGTGTG -3'

Posted On

2015-04-06