Mutagenetix > Incidental Mutation

Incidental Mutation 'R7225:Zfp1007'

562087

Institutional Source

Beutler Lab

Gene Symbol

Zfp1007

Ensembl Gene

ENSMUSG00000072763

Gene Name

zinc finger protein 1007

Synonyms

5430403G16Rik, ENSMUSG00000072763

MMRRC Submission

045297-MU

Accession Numbers

Essential gene?

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

Stock #

R7225 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

109822409-109838700 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 109825015 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 145 (H145R)

Ref Sequence

ENSEMBL: ENSMUSP00000090395 (fasta)

Gene Model

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

AlphaFold

D3Z5L4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000092720
AA Change: H145R

PolyPhen 2 Score 0.692 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000090395
Gene: ENSMUSG00000072763
AA Change: H145R

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

Coding Region Coverage

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

Validation Efficiency

98% (62/63)

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001K19Rik	T	C	12: 110,637,299 (GRCm39)		probably benign	Het
5730480H06Rik	T	A	5: 48,537,575 (GRCm39)		probably null	Het
Actn4	A	T	7: 28,598,124 (GRCm39)	V492D	probably damaging	Het
Alpk2	T	C	18: 65,438,270 (GRCm39)	E1041G	probably benign	Het
Asap1	G	A	15: 64,002,099 (GRCm39)	T404M	probably damaging	Het
Cd22	C	T	7: 30,577,059 (GRCm39)	A83T	not run	Het
Cdan1	T	C	2: 120,555,393 (GRCm39)	T783A	probably benign	Het
Cdh9	C	T	15: 16,856,159 (GRCm39)	S733F	probably damaging	Het
Cfap54	A	G	10: 92,740,236 (GRCm39)	F2282S	unknown	Het
Chst9	T	C	18: 15,585,718 (GRCm39)	K282E	probably damaging	Het
Clcn1	G	A	6: 42,270,396 (GRCm39)	D232N	probably damaging	Het
Clpb	T	A	7: 101,360,672 (GRCm39)	L234Q	probably damaging	Het
Cluh	T	G	11: 74,557,232 (GRCm39)		probably null	Het
Cnp	C	T	11: 100,471,413 (GRCm39)	Q352*	probably null	Het
Cyfip1	AGTGT	AGT	7: 55,577,937 (GRCm39)		probably null	Het
Dtx3	C	T	10: 127,027,358 (GRCm39)	C272Y	probably damaging	Het
Dync2h1	A	G	9: 7,142,756 (GRCm39)	I1156T	probably benign	Het
Epg5	T	A	18: 78,055,917 (GRCm39)	V1697E	probably benign	Het
Exoc3l4	A	G	12: 111,390,058 (GRCm39)	D211G	probably benign	Het
Fank1	A	G	7: 133,454,988 (GRCm39)	K36R	probably benign	Het
Fat4	T	C	3: 39,034,325 (GRCm39)	I2659T	possibly damaging	Het
Fer1l5	T	C	1: 36,460,033 (GRCm39)	W1893R	possibly damaging	Het
Gorasp2	T	A	2: 70,514,391 (GRCm39)	L256Q	probably damaging	Het
Gpc5	T	G	14: 115,789,710 (GRCm39)	V528G	probably damaging	Het
Gria2	T	A	3: 80,709,938 (GRCm39)		probably benign	Het
Htatip2	A	G	7: 49,420,604 (GRCm39)	E150G	possibly damaging	Het
Jak3	C	A	8: 72,138,155 (GRCm39)	Q869K	probably benign	Het
Jmjd1c	T	C	10: 67,061,844 (GRCm39)	V1218A	probably benign	Het
Kcnf1	A	G	12: 17,225,694 (GRCm39)	C176R	possibly damaging	Het
Kcnq4	A	G	4: 120,604,111 (GRCm39)	V88A	probably benign	Het
Lmod3	T	A	6: 97,224,345 (GRCm39)	D492V	probably benign	Het
Lurap1l	A	C	4: 80,829,718 (GRCm39)	S43R	probably benign	Het
Mamdc4	T	C	2: 25,455,558 (GRCm39)	H890R	possibly damaging	Het
Mertk	T	G	2: 128,643,482 (GRCm39)	N960K	possibly damaging	Het
Nudt9	C	A	5: 104,212,966 (GRCm39)	D346E	probably benign	Het
Obi1	T	C	14: 104,717,294 (GRCm39)	T360A	probably benign	Het
Opa1	A	G	16: 29,432,857 (GRCm39)		probably null	Het
Or5an1	A	T	19: 12,260,831 (GRCm39)	T140S	probably benign	Het
Oxr1	C	T	15: 41,677,004 (GRCm39)	P187L	not run	Het
Paxbp1	T	C	16: 90,823,956 (GRCm39)	E564G	probably damaging	Het
Pcdhb13	C	T	18: 37,577,490 (GRCm39)	R623C	possibly damaging	Het
Pkhd1l1	G	T	15: 44,410,337 (GRCm39)	V2615F	probably damaging	Het
Plin3	T	C	17: 56,593,541 (GRCm39)	T58A	possibly damaging	Het
Por	A	G	5: 135,761,441 (GRCm39)	D309G	probably benign	Het
Ppp2r5e	T	C	12: 75,515,353 (GRCm39)	K261R	probably damaging	Het
Ptpn18	C	T	1: 34,511,927 (GRCm39)	T366I	possibly damaging	Het
Ptprz1	G	A	6: 23,000,928 (GRCm39)	G1006E	possibly damaging	Het
Rpl12	C	T	2: 32,851,909 (GRCm39)		probably benign	Het
Rpsa	T	G	9: 119,960,222 (GRCm39)	F262V	probably benign	Het
Sh3pxd2a	G	T	19: 47,255,828 (GRCm39)	N991K	probably damaging	Het
Shank2	T	A	7: 143,838,762 (GRCm39)	N19K	probably benign	Het
Sik1	T	C	17: 32,073,274 (GRCm39)	T61A	probably benign	Het
Sipa1l3	A	C	7: 29,098,853 (GRCm39)	V472G	probably damaging	Het
Sirt6	A	G	10: 81,458,315 (GRCm39)	S313P	probably benign	Het
Slc12a7	A	G	13: 73,912,081 (GRCm39)		probably benign	Het
Sox13	A	T	1: 133,314,862 (GRCm39)	V266E	probably benign	Het
Spag9	T	C	11: 93,988,184 (GRCm39)	C833R	probably damaging	Het
Tcof1	T	C	18: 60,961,520 (GRCm39)	T812A	unknown	Het
Tnfsf4	A	G	1: 161,244,821 (GRCm39)	D170G	possibly damaging	Het
Tshz3	A	G	7: 36,469,082 (GRCm39)	N357S	probably damaging	Het
Txk	C	T	5: 72,858,057 (GRCm39)	D418N	probably damaging	Het
Ube2j2	A	G	4: 156,033,773 (GRCm39)		probably null	Het
Vmn2r84	G	A	10: 130,222,552 (GRCm39)	P556L	probably damaging	Het
Zfp442	T	C	2: 150,250,925 (GRCm39)	N326D	probably benign	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
R6389:Zfp1007	UTSW	5	109,823,885 (GRCm39)	missense	possibly damaging	0.84
R6945:Zfp1007	UTSW	5	109,824,711 (GRCm39)	missense	probably benign	0.25
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'- ACTGTGAGAGGCAAAGGCTTTG -3'
(R):5'- ACATTTGCCAATTATCTTTGCAGGC -3'

Sequencing Primer
(F):5'- TGCGTACAAAGGCTTTACCG -3'
(R):5'- GGTAAAGCCTTTGCATGTCACAG -3'

Posted On

2019-06-26