Mutagenetix > Incidental Mutation

Incidental Mutation 'R1162:Zfp872'

100480

Institutional Source

Beutler Lab

Gene Symbol

Zfp872

Ensembl Gene

ENSMUSG00000074472

Gene Name

zinc finger protein 872

Synonyms

9530015I07Rik

MMRRC Submission

039235-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R1162 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

22099462-22113419 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 22110910 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 149 (S149G)

Ref Sequence

ENSEMBL: ENSMUSP00000149642 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000091508] [ENSMUST00000178901] [ENSMUST00000217301]

AlphaFold

Q3UVL3

Predicted Effect

probably benign
Transcript: ENSMUST00000091508
AA Change: S129G

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000089089
Gene: ENSMUSG00000074472
AA Change: S129G

Domain	Start	End	E-Value	Type
KRAB	3	74	6.16e-15	SMART
ZnF_C2H2	99	121	1.64e-1	SMART
ZnF_C2H2	137	159	3.63e-3	SMART
ZnF_C2H2	165	187	5.14e-3	SMART
ZnF_C2H2	193	215	1.58e-3	SMART
ZnF_C2H2	221	243	2.75e-3	SMART
ZnF_C2H2	249	271	4.47e-3	SMART
ZnF_C2H2	277	299	2.57e-3	SMART
ZnF_C2H2	305	327	2.75e-3	SMART
ZnF_C2H2	333	355	3.58e-2	SMART
ZnF_C2H2	361	383	4.05e-1	SMART
ZnF_C2H2	389	411	2.43e-4	SMART
ZnF_C2H2	417	439	1.26e-2	SMART
ZnF_C2H2	445	463	1.27e2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000178901
AA Change: S130G

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000136074
Gene: ENSMUSG00000074472
AA Change: S130G

Domain	Start	End	E-Value	Type
KRAB	4	75	6.16e-15	SMART
ZnF_C2H2	100	122	1.64e-1	SMART
ZnF_C2H2	138	160	3.63e-3	SMART
ZnF_C2H2	166	188	5.14e-3	SMART
ZnF_C2H2	194	216	1.58e-3	SMART
ZnF_C2H2	222	244	2.75e-3	SMART
ZnF_C2H2	250	272	4.47e-3	SMART
ZnF_C2H2	278	300	2.57e-3	SMART
ZnF_C2H2	306	328	2.75e-3	SMART
ZnF_C2H2	334	356	3.58e-2	SMART
ZnF_C2H2	362	384	4.05e-1	SMART
ZnF_C2H2	390	412	2.43e-4	SMART
ZnF_C2H2	418	440	1.26e-2	SMART
ZnF_C2H2	446	464	1.27e2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187399

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217297

Predicted Effect

possibly damaging
Transcript: ENSMUST00000217301
AA Change: S149G

PolyPhen 2 Score 0.839 (Sensitivity: 0.84; Specificity: 0.93)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.9%

Validation Efficiency

98% (55/56)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430015G10Rik	T	C	4: 156,206,875 (GRCm39)		probably null	Het
Adamts12	T	A	15: 11,277,544 (GRCm39)		probably null	Het
Ccn3	T	A	15: 54,611,178 (GRCm39)	C104*	probably null	Het
Cops4	T	C	5: 100,678,023 (GRCm39)		probably benign	Het
Cul7	T	A	17: 46,974,116 (GRCm39)	L1467H	probably damaging	Het
Dgkh	A	G	14: 78,861,891 (GRCm39)	C125R	probably damaging	Het
Dgkz	A	T	2: 91,774,789 (GRCm39)	I65N	probably damaging	Het
Dock10	T	A	1: 80,546,559 (GRCm39)	H743L	possibly damaging	Het
Dscaml1	T	C	9: 45,663,647 (GRCm39)		probably benign	Het
Flt4	C	T	11: 49,527,166 (GRCm39)		probably benign	Het
Gbe1	A	T	16: 70,178,738 (GRCm39)		probably benign	Het
Gm7275	A	G	16: 47,894,395 (GRCm39)		noncoding transcript	Het
Gpatch1	A	G	7: 35,002,905 (GRCm39)		probably benign	Het
Gpr137c	A	G	14: 45,481,615 (GRCm39)	I144V	possibly damaging	Het
Igsf9b	T	C	9: 27,238,185 (GRCm39)	S563P	probably benign	Het
Insl5	C	T	4: 102,875,438 (GRCm39)	R104Q	probably benign	Het
Kcnj2	T	A	11: 110,963,793 (GRCm39)	V395D	probably benign	Het
Ksr2	A	G	5: 117,693,020 (GRCm39)		probably benign	Het
Lrrc4	C	A	6: 28,831,083 (GRCm39)	L177F	probably damaging	Het
Mapkbp1	A	G	2: 119,855,799 (GRCm39)	E1506G	possibly damaging	Het
Morc3	A	C	16: 93,649,996 (GRCm39)	Y259S	probably damaging	Het
Mrpl43	T	G	19: 44,994,797 (GRCm39)	S13R	possibly damaging	Het
Myh4	A	G	11: 67,149,439 (GRCm39)	N1724D	probably damaging	Het
Nab1	A	G	1: 52,529,186 (GRCm39)	M237T	probably damaging	Het
Nav2	A	G	7: 49,185,788 (GRCm39)		probably benign	Het
Nfix	G	A	8: 85,453,155 (GRCm39)	R300C	probably damaging	Het
Nup155	A	T	15: 8,187,244 (GRCm39)	H1391L	probably damaging	Het
Or2h15	A	T	17: 38,441,984 (GRCm39)	V33D	possibly damaging	Het
Or5ac15	T	C	16: 58,939,735 (GRCm39)	R233G	probably damaging	Het
Or5p80	A	G	7: 108,230,120 (GRCm39)	N307S	probably benign	Het
Phf2	A	T	13: 48,973,117 (GRCm39)		probably benign	Het
Ppef2	A	C	5: 92,400,980 (GRCm39)	F13L	probably benign	Het
Pwwp4a	G	T	X: 72,171,261 (GRCm39)	G218C	probably damaging	Het
Sap130	C	T	18: 31,781,226 (GRCm39)	P130S	probably damaging	Het
Scn11a	A	G	9: 119,634,710 (GRCm39)		probably benign	Het
Sec31b	C	A	19: 44,506,087 (GRCm39)	E940*	probably null	Het
Sgce	A	G	6: 4,691,419 (GRCm39)		probably benign	Het
Sh3glb2	A	T	2: 30,240,600 (GRCm39)	I155N	probably damaging	Het
Sirt2	A	T	7: 28,485,247 (GRCm39)	D218V	probably damaging	Het
Slc16a10	T	C	10: 39,952,549 (GRCm39)	H315R	probably benign	Het
Sox5	A	G	6: 143,906,538 (GRCm39)	Y306H	probably damaging	Het
Sucla2	C	T	14: 73,798,074 (GRCm39)		probably benign	Het
Tab2	A	G	10: 7,800,483 (GRCm39)	V23A	probably damaging	Het
Trak1	G	T	9: 121,282,407 (GRCm39)	V429F	possibly damaging	Het
Trat1	T	C	16: 48,560,572 (GRCm39)	S102G	possibly damaging	Het
Trub1	G	A	19: 57,461,191 (GRCm39)	V156I	probably benign	Het
Tspan32	T	A	7: 142,560,735 (GRCm39)	M61K	probably damaging	Het
Unc13a	T	A	8: 72,100,561 (GRCm39)	T1076S	probably benign	Het
Vangl2	A	G	1: 171,832,414 (GRCm39)	Y481H	probably damaging	Het
Vmn2r105	C	T	17: 20,447,973 (GRCm39)	E284K	probably benign	Het
Vmn2r60	A	T	7: 41,845,195 (GRCm39)	I853F	probably benign	Het
Yrdc	T	C	4: 124,748,254 (GRCm39)		probably benign	Het
Zfp595	A	T	13: 67,465,259 (GRCm39)	C335S	probably damaging	Het

Other mutations in Zfp872

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0211:Zfp872	UTSW	9	22,111,469 (GRCm39)	missense	probably damaging	0.98
R0211:Zfp872	UTSW	9	22,111,469 (GRCm39)	missense	probably damaging	0.98
R1793:Zfp872	UTSW	9	22,111,349 (GRCm39)	missense	probably damaging	1.00
R3432:Zfp872	UTSW	9	22,111,750 (GRCm39)	nonsense	probably null
R4633:Zfp872	UTSW	9	22,108,490 (GRCm39)	critical splice donor site	probably null
R4647:Zfp872	UTSW	9	22,111,057 (GRCm39)	missense	possibly damaging	0.80
R4675:Zfp872	UTSW	9	22,108,701 (GRCm39)	missense	probably damaging	0.99
R6189:Zfp872	UTSW	9	22,108,427 (GRCm39)	missense	probably benign	0.01
R6240:Zfp872	UTSW	9	22,111,180 (GRCm39)	missense	probably damaging	1.00
R6852:Zfp872	UTSW	9	22,111,355 (GRCm39)	missense	probably damaging	1.00
R7001:Zfp872	UTSW	9	22,111,912 (GRCm39)	missense	probably damaging	1.00
R7036:Zfp872	UTSW	9	22,111,856 (GRCm39)	missense	probably benign	0.08
R7834:Zfp872	UTSW	9	22,111,406 (GRCm39)	missense	probably damaging	0.97
R8364:Zfp872	UTSW	9	22,111,540 (GRCm39)	missense	probably damaging	1.00
R8385:Zfp872	UTSW	9	22,111,407 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

Posted On

2014-01-15