Mutagenetix > Incidental Mutation

Incidental Mutation 'R9180:Zfp84'

696957

Institutional Source

Beutler Lab

Gene Symbol

Zfp84

Ensembl Gene

ENSMUSG00000046185

Gene Name

zinc finger protein 84

Synonyms

KRAB18, C86188, Zfp69, 2210410P13Rik, 4633401C23Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9180 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

29467977-29479246 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 29474873 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 48 (S48R)

Ref Sequence

ENSEMBL: ENSMUSP00000032802 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032802]

AlphaFold

Q9D654

Predicted Effect

probably damaging
Transcript: ENSMUST00000032802
AA Change: S48R

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000032802
Gene: ENSMUSG00000046185
AA Change: S48R

Domain	Start	End	E-Value	Type
KRAB	14	74	9.09e-36	SMART
ZnF_C2H2	249	271	1.67e-2	SMART
ZnF_C2H2	277	299	1.43e-1	SMART
ZnF_C2H2	305	327	5.81e-2	SMART
ZnF_C2H2	333	355	1.95e-3	SMART
ZnF_C2H2	361	383	8.6e-5	SMART
ZnF_C2H2	389	411	2.32e-1	SMART
ZnF_C2H2	417	439	3.89e-3	SMART
ZnF_C2H2	445	467	1.69e-3	SMART
ZnF_C2H2	473	495	9.58e-3	SMART
ZnF_C2H2	501	523	1.38e-3	SMART
ZnF_C2H2	529	551	1.58e-3	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930579F01Rik	G	A	3: 137,889,470 (GRCm39)	P49L	probably benign	Het
Adam34l	T	A	8: 44,079,970 (GRCm39)	R85*	probably null	Het
Anapc2	C	T	2: 25,163,303 (GRCm39)	T180I	probably benign	Het
Ankib1	A	T	5: 3,756,276 (GRCm39)	H556Q	probably damaging	Het
Aox1	A	T	1: 58,378,777 (GRCm39)	K1009*	probably null	Het
Apob	C	T	12: 8,047,925 (GRCm39)	P968L	probably damaging	Het
Bpi	T	A	2: 158,116,608 (GRCm39)	F335Y	probably benign	Het
Cabcoco1	T	C	10: 68,272,719 (GRCm39)	Y222C	probably damaging	Het
Camk2b	G	T	11: 5,939,332 (GRCm39)	C273*	probably null	Het
Catsperd	G	A	17: 56,968,252 (GRCm39)	D546N	probably benign	Het
Cenpb	C	T	2: 131,021,463 (GRCm39)	G112S	probably damaging	Het
Col6a5	A	G	9: 105,739,178 (GRCm39)	L2585P	probably damaging	Het
Cop1	A	G	1: 159,147,339 (GRCm39)	E555G	probably damaging	Het
Coro1b	T	C	19: 4,203,392 (GRCm39)	V411A	probably benign	Het
Cyfip2	G	A	11: 46,176,920 (GRCm39)	R87C	probably damaging	Het
Dthd1	A	C	5: 63,045,410 (GRCm39)	I725L	probably benign	Het
Dydc1	A	C	14: 40,800,054 (GRCm39)	E20A	probably damaging	Het
Ermp1	T	C	19: 29,609,845 (GRCm39)	I317V	probably benign	Het
Fat4	A	G	3: 38,942,556 (GRCm39)	N483S	possibly damaging	Het
Fbxo33	A	G	12: 59,251,095 (GRCm39)		probably null	Het
Fcgbp	G	T	7: 27,803,198 (GRCm39)	E1601*	probably null	Het
Fer1l5	A	T	1: 36,449,999 (GRCm39)	S1118C	probably null	Het
Fer1l6	T	C	15: 58,494,230 (GRCm39)	V1141A	probably benign	Het
Flnb	C	T	14: 7,818,219 (GRCm38)	T23M	probably damaging	Het
Fsip2	T	C	2: 82,815,574 (GRCm39)	L3769P	possibly damaging	Het
Gna11	T	C	10: 81,370,942 (GRCm39)	K98R		Het
Gpat3	A	T	5: 101,032,230 (GRCm39)	T176S	probably benign	Het
Gprc5b	A	G	7: 118,583,542 (GRCm39)	L109P	probably damaging	Het
Hadha	A	T	5: 30,340,038 (GRCm39)	N246K	probably benign	Het
Haus3	G	A	5: 34,324,835 (GRCm39)	Q275*	probably null	Het
Higd1b	A	G	11: 102,728,090 (GRCm39)	Y44C	possibly damaging	Het
Igkv1-131	T	C	6: 67,743,218 (GRCm39)	K55R	probably benign	Het
Igtp	G	T	11: 58,098,091 (GRCm39)	E421*	probably null	Het
Kcnk3	G	T	5: 30,745,532 (GRCm39)		probably benign	Het
Krtap4-13	A	T	11: 99,700,165 (GRCm39)	C165S	unknown	Het
Lrfn4	T	C	19: 4,663,353 (GRCm39)	R394G	probably benign	Het
Lrrc7	A	C	3: 157,867,011 (GRCm39)	L910R	possibly damaging	Het
Mbtd1	A	G	11: 93,823,218 (GRCm39)	D568G	probably damaging	Het
Mettl16	T	A	11: 74,693,826 (GRCm39)	I279N	probably benign	Het
Mmrn2	A	G	14: 34,121,158 (GRCm39)	H676R	probably benign	Het
Mrgprg	T	C	7: 143,318,350 (GRCm39)	K254R	probably benign	Het
Muc16	A	C	9: 18,554,038 (GRCm39)	V4085G	unknown	Het
Mvp	T	C	7: 126,591,822 (GRCm39)	Q456R	probably benign	Het
Myf6	T	C	10: 107,329,318 (GRCm39)	D209G	probably benign	Het
Ociad1	A	G	5: 73,467,725 (GRCm39)	D167G	probably benign	Het
Or11l3	A	G	11: 58,516,062 (GRCm39)	L270P	probably benign	Het
Or1l4	A	G	2: 37,091,292 (GRCm39)	D13G	probably benign	Het
Or51f23b	T	A	7: 102,402,734 (GRCm39)	Y134F	probably damaging	Het
Or5m3	T	G	2: 85,838,325 (GRCm39)	D68E	probably damaging	Het
Or6c1b	T	C	10: 129,272,858 (GRCm39)	F59S	probably damaging	Het
Phf20	A	G	2: 156,114,537 (GRCm39)	D295G	probably benign	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Ppp1r13b	A	T	12: 111,811,416 (GRCm39)	H157Q	probably benign	Het
Prss3b	A	G	6: 41,008,681 (GRCm39)	L211P	probably damaging	Het
Rbm26	C	T	14: 105,391,039 (GRCm39)	R149H	unknown	Het
Reg3d	C	T	6: 78,355,443 (GRCm39)	C16Y	possibly damaging	Het
Rrp36	A	G	17: 46,978,980 (GRCm39)	F193L	possibly damaging	Het
Rtca	A	T	3: 116,282,905 (GRCm39)	M361K	probably benign	Het
Ryr3	T	G	2: 112,491,981 (GRCm39)	D3790A	probably damaging	Het
Serpina3n	C	A	12: 104,377,440 (GRCm39)	A231E	probably benign	Het
Sh2d2a	A	G	3: 87,759,070 (GRCm39)	D224G	possibly damaging	Het
Sh3bp2	A	T	5: 34,718,377 (GRCm39)	K526*	probably null	Het
Slc12a2	A	G	18: 58,069,469 (GRCm39)	T1017A	possibly damaging	Het
Slc12a8	T	C	16: 33,361,397 (GRCm39)	L93P	probably damaging	Het
Slc5a6	A	G	5: 31,195,190 (GRCm39)	I469T	probably damaging	Het
Smarcc1	T	A	9: 109,964,728 (GRCm39)	V95D	probably damaging	Het
Snap29	T	A	16: 17,224,163 (GRCm39)	S59R	probably damaging	Het
Tmem121b	T	A	6: 120,469,784 (GRCm39)	Y311F	probably damaging	Het
Tpcn1	C	A	5: 120,694,000 (GRCm39)	V199L	probably benign	Het
Ttn	T	C	2: 76,618,721 (GRCm39)	I16188V	probably benign	Het
Usp24	T	C	4: 106,216,247 (GRCm39)	I366T	possibly damaging	Het
Utrn	T	A	10: 12,545,463 (GRCm39)	E1727D	probably damaging	Het
Vav2	T	C	2: 27,182,701 (GRCm39)	D301G	probably damaging	Het
Vmn2r104	T	C	17: 20,263,087 (GRCm39)	T125A	probably benign	Het
Vmn2r73	T	G	7: 85,507,123 (GRCm39)	I730L	probably benign	Het
Zfp352	A	T	4: 90,113,118 (GRCm39)	K419N	probably benign	Het
Zfp947	A	T	17: 22,364,386 (GRCm39)	H429Q	probably damaging	Het

Other mutations in Zfp84

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01768:Zfp84	APN	7	29,476,091 (GRCm39)	missense	probably benign	0.16
IGL03022:Zfp84	APN	7	29,474,759 (GRCm39)	splice site	probably benign
R0666:Zfp84	UTSW	7	29,476,276 (GRCm39)	missense	probably damaging	1.00
R0781:Zfp84	UTSW	7	29,470,797 (GRCm39)	start codon destroyed	probably null	0.02
R1110:Zfp84	UTSW	7	29,470,797 (GRCm39)	start codon destroyed	probably null	0.02
R1353:Zfp84	UTSW	7	29,475,600 (GRCm39)	missense	probably benign	0.02
R1495:Zfp84	UTSW	7	29,476,728 (GRCm39)	nonsense	probably null
R1496:Zfp84	UTSW	7	29,476,039 (GRCm39)	missense	possibly damaging	0.53
R1681:Zfp84	UTSW	7	29,476,825 (GRCm39)	missense	probably damaging	1.00
R1827:Zfp84	UTSW	7	29,476,768 (GRCm39)	missense	possibly damaging	0.91
R1854:Zfp84	UTSW	7	29,474,796 (GRCm39)	missense	possibly damaging	0.84
R2209:Zfp84	UTSW	7	29,476,607 (GRCm39)	missense	probably damaging	0.99
R2843:Zfp84	UTSW	7	29,474,758 (GRCm39)	splice site	probably null
R2844:Zfp84	UTSW	7	29,474,758 (GRCm39)	splice site	probably null
R4691:Zfp84	UTSW	7	29,476,505 (GRCm39)	missense	probably damaging	1.00
R5453:Zfp84	UTSW	7	29,475,722 (GRCm39)	missense	possibly damaging	0.82
R5474:Zfp84	UTSW	7	29,476,514 (GRCm39)	missense	probably damaging	1.00
R5578:Zfp84	UTSW	7	29,474,856 (GRCm39)	missense	possibly damaging	0.93
R5646:Zfp84	UTSW	7	29,475,818 (GRCm39)	missense	probably benign	0.05
R5963:Zfp84	UTSW	7	29,476,378 (GRCm39)	missense	probably damaging	1.00
R6830:Zfp84	UTSW	7	29,475,911 (GRCm39)	missense	probably benign	0.00
R8129:Zfp84	UTSW	7	29,475,862 (GRCm39)	missense	probably benign	0.00
R8138:Zfp84	UTSW	7	29,474,797 (GRCm39)	missense	probably damaging	0.99
R9401:Zfp84	UTSW	7	29,476,297 (GRCm39)	missense	probably damaging	1.00
R9489:Zfp84	UTSW	7	29,476,264 (GRCm39)	missense	possibly damaging	0.89
R9555:Zfp84	UTSW	7	29,476,102 (GRCm39)	missense	probably damaging	0.99
R9605:Zfp84	UTSW	7	29,476,264 (GRCm39)	missense	possibly damaging	0.89
V3553:Zfp84	UTSW	7	29,476,672 (GRCm39)	missense	probably benign	0.36
Z1186:Zfp84	UTSW	7	29,470,805 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- CCTGTGCTGGAAAGGGGATATG -3'
(R):5'- TGCCAGAGTGTAGCAAAGGATTC -3'

Sequencing Primer
(F):5'- AAAGGGGATATGCCTTGCCCTG -3'
(R):5'- CAATGGCAGCTGTTTACCAG -3'

Posted On

2022-02-07