Mutagenetix > Incidental Mutation

Incidental Mutation 'R6389:Zfp1007'

538075

Institutional Source

Beutler Lab

Gene Symbol

Zfp1007

Ensembl Gene

ENSMUSG00000072763

Gene Name

zinc finger protein 1007

Synonyms

5430403G16Rik, ENSMUSG00000072763

MMRRC Submission

044538-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.105) question?

Stock #

R6389 (G1)

Quality Score

58.0073

Status

Validated

Chromosome

Chromosomal Location

109822409-109838700 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 109823885 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 522 (P522S)

Ref Sequence

ENSEMBL: ENSMUSP00000090395 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000092720]

AlphaFold

D3Z5L4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000092720
AA Change: P522S

PolyPhen 2 Score 0.838 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000090395
Gene: ENSMUSG00000072763
AA Change: P522S

Domain	Start	End	E-Value	Type
KRAB	4	60	2.47e-14	SMART
ZnF_C2H2	131	153	3.39e-3	SMART
ZnF_C2H2	159	181	3.95e-4	SMART
ZnF_C2H2	187	209	3.95e-4	SMART
ZnF_C2H2	215	237	1.12e-3	SMART
ZnF_C2H2	243	265	4.01e-5	SMART
ZnF_C2H2	271	293	7.78e-3	SMART
ZnF_C2H2	299	321	2.61e-4	SMART
ZnF_C2H2	327	349	1.36e-2	SMART
ZnF_C2H2	355	377	7.37e-4	SMART
ZnF_C2H2	383	405	1.3e-4	SMART
ZnF_C2H2	411	433	3.69e-4	SMART
ZnF_C2H2	439	461	4.3e-5	SMART
ZnF_C2H2	467	489	2.57e-3	SMART
ZnF_C2H2	495	517	2.61e-4	SMART
ZnF_C2H2	523	545	2.05e-2	SMART
ZnF_C2H2	551	573	5.59e-4	SMART
ZnF_C2H2	579	601	1.58e-3	SMART
ZnF_C2H2	607	629	9.08e-4	SMART
ZnF_C2H2	635	657	3.44e-4	SMART

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 96.9%

Validation Efficiency

100% (57/57)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406B18Rik	A	C	7: 43,147,254 (GRCm39)	L326R	possibly damaging	Het
Abcb11	A	T	2: 69,154,238 (GRCm39)	N109K	probably damaging	Het
Actn1	T	A	12: 80,221,296 (GRCm39)	M586L	probably benign	Het
Ago4	T	A	4: 126,401,037 (GRCm39)	I603F	probably damaging	Het
Bicc1	A	T	10: 70,794,752 (GRCm39)	V135D	probably damaging	Het
Bms1	T	C	6: 118,380,196 (GRCm39)	N704D	possibly damaging	Het
Cadm4	A	C	7: 24,198,959 (GRCm39)	Q78P	probably benign	Het
Cfap74	T	C	4: 155,507,793 (GRCm39)	I248T	possibly damaging	Het
Clu	G	C	14: 66,208,771 (GRCm39)		probably benign	Het
Cnnm3	T	C	1: 36,559,603 (GRCm39)	V514A	probably damaging	Het
Cntd1	A	T	11: 101,176,577 (GRCm39)	I225F	probably damaging	Het
Col20a1	T	C	2: 180,634,376 (GRCm39)		probably null	Het
Ctnnal1	A	G	4: 56,813,849 (GRCm39)	V640A	probably benign	Het
Cul4a	A	G	8: 13,190,278 (GRCm39)	T572A	probably benign	Het
D16Ertd472e	A	G	16: 78,342,071 (GRCm39)	S270P	probably damaging	Het
Dmp1	A	T	5: 104,360,788 (GRCm39)	N488I	probably damaging	Het
Dnah14	G	A	1: 181,478,767 (GRCm39)		probably null	Het
Dst	T	C	1: 34,232,265 (GRCm39)	L3464P	probably damaging	Het
Fnbp4	C	T	2: 90,575,879 (GRCm39)	P27S	unknown	Het
Fpr-rs3	A	T	17: 20,844,230 (GRCm39)	F304I	probably damaging	Het
Gm13941	T	C	2: 110,928,734 (GRCm39)	Q108R	unknown	Het
Hcn3	C	T	3: 89,058,240 (GRCm39)	A339T	possibly damaging	Het
Inpp5f	A	G	7: 128,279,780 (GRCm39)	D460G	probably damaging	Het
Ism2	T	C	12: 87,329,145 (GRCm39)	E253G	possibly damaging	Het
Klrg1	T	C	6: 122,248,431 (GRCm39)	N156S	probably damaging	Het
Ksr2	A	G	5: 117,552,907 (GRCm39)	N5S	probably benign	Het
Lrrc7	T	G	3: 157,891,063 (GRCm39)	E368A	probably damaging	Het
Ly9	G	C	1: 171,424,105 (GRCm39)	S482C	probably damaging	Het
Map3k1	T	C	13: 111,905,975 (GRCm39)	D289G	probably damaging	Het
Mcub	T	C	3: 129,712,357 (GRCm39)	T173A	probably benign	Het
Mup16	T	C	4: 61,437,177 (GRCm39)	E48G	probably damaging	Het
Naf1	C	T	8: 67,313,680 (GRCm39)	S24L	possibly damaging	Het
Ncoa6	A	G	2: 155,237,736 (GRCm39)	S2024P	probably damaging	Het
Nop56	C	A	2: 130,119,807 (GRCm39)	Q83K	probably damaging	Het
Nt5e	T	C	9: 88,245,524 (GRCm39)	Y265H	probably damaging	Het
Odad1	G	T	7: 45,597,940 (GRCm39)	V617F	probably benign	Het
Or4a27	A	G	2: 88,559,016 (GRCm39)	V309A	probably benign	Het
Or52p2	A	T	7: 102,237,679 (GRCm39)	N90K	probably benign	Het
Or5w8	C	T	2: 87,688,367 (GRCm39)	P283S	probably damaging	Het
Oxct2a	T	A	4: 123,217,220 (GRCm39)	K54*	probably null	Het
Oxct2b	G	T	4: 123,010,367 (GRCm39)	D96Y	probably benign	Het
Pisd	A	G	5: 32,922,191 (GRCm39)	Y250H	probably damaging	Het
Plekhm1	G	T	11: 103,257,720 (GRCm39)	N1071K	probably benign	Het
Prr11	G	A	11: 86,989,564 (GRCm39)	T269I	possibly damaging	Het
Ptpn4	T	A	1: 119,649,684 (GRCm39)	H304L	probably damaging	Het
Rrp1b	A	G	17: 32,275,601 (GRCm39)	K383E	possibly damaging	Het
Sel1l2	C	A	2: 140,087,274 (GRCm39)	A466S	probably damaging	Het
Slc9a4	A	G	1: 40,619,844 (GRCm39)	I57V	probably benign	Het
Spag9	A	G	11: 93,977,137 (GRCm39)	E81G	probably damaging	Het
Tbr1	A	G	2: 61,636,631 (GRCm39)		probably benign	Het
Tnrc6c	A	G	11: 117,613,567 (GRCm39)	D735G	probably damaging	Het
Tspan17	A	T	13: 54,943,429 (GRCm39)		probably null	Het
Tyw5	T	C	1: 57,430,658 (GRCm39)	K175R	probably damaging	Het
Ube2o	A	C	11: 116,439,684 (GRCm39)	I162R	probably null	Het
Ubr1	G	T	2: 120,711,520 (GRCm39)	T1458K	probably benign	Het
Vmn2r16	A	T	5: 109,478,344 (GRCm39)	Q33L	probably benign	Het
Zfp799	A	G	17: 33,039,552 (GRCm39)	L238P	probably damaging	Het

Other mutations in Zfp1007

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01653:Zfp1007	APN	5	109,825,182 (GRCm39)	nonsense	probably null
IGL02547:Zfp1007	APN	5	109,826,628 (GRCm39)	critical splice donor site	probably null
IGL02589:Zfp1007	APN	5	109,826,386 (GRCm39)	missense	possibly damaging	0.95
BB007:Zfp1007	UTSW	5	109,823,622 (GRCm39)	nonsense	probably null
BB017:Zfp1007	UTSW	5	109,823,622 (GRCm39)	nonsense	probably null
R0363:Zfp1007	UTSW	5	109,824,754 (GRCm39)	missense	probably benign	0.03
R0628:Zfp1007	UTSW	5	109,826,442 (GRCm39)	critical splice acceptor site	probably null
R2858:Zfp1007	UTSW	5	109,823,819 (GRCm39)	missense	probably benign	0.02
R4914:Zfp1007	UTSW	5	109,826,396 (GRCm39)	missense	probably damaging	1.00
R4945:Zfp1007	UTSW	5	109,824,941 (GRCm39)	missense	possibly damaging	0.60
R5444:Zfp1007	UTSW	5	109,823,502 (GRCm39)	nonsense	probably null
R6000:Zfp1007	UTSW	5	109,824,730 (GRCm39)	missense	probably benign	0.19
R6258:Zfp1007	UTSW	5	109,824,433 (GRCm39)	missense	probably benign	0.01
R6945:Zfp1007	UTSW	5	109,824,711 (GRCm39)	missense	probably benign	0.25
R7225:Zfp1007	UTSW	5	109,825,015 (GRCm39)	missense	possibly damaging	0.69
R7581:Zfp1007	UTSW	5	109,838,654 (GRCm39)	start gained	probably benign
R7810:Zfp1007	UTSW	5	109,825,170 (GRCm39)	nonsense	probably null
R7930:Zfp1007	UTSW	5	109,823,622 (GRCm39)	nonsense	probably null
R8821:Zfp1007	UTSW	5	109,824,174 (GRCm39)	missense	probably benign	0.00
R8825:Zfp1007	UTSW	5	109,826,746 (GRCm39)	missense	probably damaging	1.00
R8831:Zfp1007	UTSW	5	109,824,174 (GRCm39)	missense	probably benign	0.00
R9179:Zfp1007	UTSW	5	109,823,708 (GRCm39)	missense	probably damaging	1.00
R9429:Zfp1007	UTSW	5	109,824,334 (GRCm39)	nonsense	probably null
R9486:Zfp1007	UTSW	5	109,824,062 (GRCm39)	nonsense	probably null
R9496:Zfp1007	UTSW	5	109,823,924 (GRCm39)	missense	probably damaging	0.98
R9525:Zfp1007	UTSW	5	109,824,846 (GRCm39)	missense

Predicted Primers

PCR Primer
(F):5'- GATATGCAAAGGCTTTACCACAT -3'
(R):5'- CCTTTGTACGCAATGCTAGTC -3'

Sequencing Primer
(F):5'- GCAAAGGCTTTACCACATTGATC -3'
(R):5'- TGTACGCAATGCTAGTCTCCAAG -3'

Posted On

2018-10-31