Mutagenetix > Incidental Mutation

Incidental Mutation 'R4631:Zfp975'

349190

Institutional Source

Beutler Lab

Gene Symbol

Zfp975

Ensembl Gene

ENSMUSG00000069727

Gene Name

zinc finger protein 975

Synonyms

Gm5595

MMRRC Submission

041896-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.089) question?

Stock #

R4631 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

42309529-42342166 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 42312369 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 81 (N81K)

Ref Sequence

ENSEMBL: ENSMUSP00000103626 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000107992]

AlphaFold

Q6NVD6

Predicted Effect

probably benign
Transcript: ENSMUST00000107992
AA Change: N81K

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000103626
Gene: ENSMUSG00000069727
AA Change: N81K

Domain	Start	End	E-Value	Type
KRAB	4	66	1.53e-19	SMART
ZnF_C2H2	131	153	7.78e-3	SMART
ZnF_C2H2	159	181	9.73e-4	SMART
ZnF_C2H2	187	209	1.47e-3	SMART
ZnF_C2H2	215	237	3.89e-3	SMART
ZnF_C2H2	243	265	2.57e-3	SMART
ZnF_C2H2	271	293	7.26e-3	SMART
ZnF_C2H2	299	321	1.58e-3	SMART
ZnF_C2H2	327	349	7.9e-4	SMART
ZnF_C2H2	355	377	5.9e-3	SMART
ZnF_C2H2	383	405	1.58e-3	SMART
ZnF_C2H2	411	433	6.32e-3	SMART
ZnF_C2H2	439	461	8.47e-4	SMART
ZnF_C2H2	467	489	2.57e-3	SMART
ZnF_C2H2	495	517	3.16e-3	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

100% (84/84)

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	A	T	9: 57,165,270 (GRCm39)	L368Q	probably damaging	Het
Abcc2	C	T	19: 43,803,146 (GRCm39)	P661S	possibly damaging	Het
Adgre4	T	G	17: 56,121,305 (GRCm39)	M457R	probably null	Het
Ank	C	A	15: 27,467,176 (GRCm39)	F29L	probably benign	Het
Arhgap20	T	C	9: 51,751,653 (GRCm39)		probably benign	Het
Atf6	T	C	1: 170,574,766 (GRCm39)		probably null	Het
Bhmt1b	G	A	18: 87,774,525 (GRCm39)	R16H	probably damaging	Het
Bod1l	A	G	5: 41,975,078 (GRCm39)	F2079L	probably damaging	Het
Cd163	T	C	6: 124,306,045 (GRCm39)	*1122Q	probably null	Het
Ces2g	T	C	8: 105,694,094 (GRCm39)		probably null	Het
Cntnap3	A	G	13: 64,926,697 (GRCm39)	Y558H	probably benign	Het
Ctsm	T	A	13: 61,685,510 (GRCm39)	S301C	probably null	Het
Dlc1	A	C	8: 37,404,712 (GRCm39)		probably null	Het
Dlg2	A	T	7: 91,737,822 (GRCm39)	I435F	probably damaging	Het
Dnah5	T	C	15: 28,402,099 (GRCm39)	V3420A	probably damaging	Het
Dnah5	T	A	15: 28,420,140 (GRCm39)	Y3813N	probably damaging	Het
Dnajc13	A	G	9: 104,067,616 (GRCm39)	M1181T	probably damaging	Het
Drc3	C	A	11: 60,255,734 (GRCm39)	T107N	probably benign	Het
Dydc2	T	C	14: 40,771,286 (GRCm39)	E131G	probably benign	Het
Eif5b	T	C	1: 38,080,828 (GRCm39)	V723A	probably damaging	Het
Fndc9	C	A	11: 46,128,675 (GRCm39)	H65N	possibly damaging	Het
Fzd1	A	T	5: 4,805,865 (GRCm39)	Y572*	probably null	Het
Gps1	T	A	11: 120,679,065 (GRCm39)		probably null	Het
Gvin3	A	G	7: 106,198,730 (GRCm39)		noncoding transcript	Het
Kazn	G	A	4: 141,845,471 (GRCm39)		probably benign	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Kcnip1	T	A	11: 33,942,821 (GRCm39)		noncoding transcript	Het
Kif19a	A	G	11: 114,675,673 (GRCm39)	I382V	possibly damaging	Het
Krt1	C	T	15: 101,754,622 (GRCm39)	G543S	unknown	Het
Malsu1	A	T	6: 49,061,467 (GRCm39)	E177V	probably damaging	Het
Man2a2	A	G	7: 80,012,211 (GRCm39)	F649L	probably benign	Het
Map3k11	A	G	19: 5,740,941 (GRCm39)	I223V	probably benign	Het
Mroh2a	A	G	1: 88,186,386 (GRCm39)	S64G	probably benign	Het
Myh9	T	G	15: 77,681,228 (GRCm39)	D164A	probably damaging	Het
Myo16	T	C	8: 10,556,984 (GRCm39)	I1040T	probably damaging	Het
Myo18b	C	T	5: 112,994,266 (GRCm39)	A896T	probably damaging	Het
Myocd	G	T	11: 65,069,685 (GRCm39)	N798K	probably benign	Het
Or13c7b	T	C	4: 43,820,563 (GRCm39)	D266G	probably benign	Het
Or1n1b	T	G	2: 36,780,630 (GRCm39)	T77P	probably benign	Het
Or2l13b	G	A	16: 19,348,891 (GRCm39)	R260*	probably null	Het
Or4c11	C	T	2: 88,695,174 (GRCm39)	T75I	probably benign	Het
Or4g7	T	A	2: 111,309,908 (GRCm39)	W260R	probably damaging	Het
Or52a5	A	T	7: 103,426,682 (GRCm39)	L290Q	probably damaging	Het
Or5b105	T	A	19: 13,080,636 (GRCm39)	I11F	probably benign	Het
Pcdh18	T	A	3: 49,710,890 (GRCm39)	I142F	probably damaging	Het
Pcyox1	T	C	6: 86,366,212 (GRCm39)	E334G	possibly damaging	Het
Pcyox1	T	C	6: 86,366,125 (GRCm39)	D363G	probably benign	Het
Pgm2	A	G	5: 64,263,290 (GRCm39)		probably null	Het
Plagl1	T	G	10: 13,003,743 (GRCm39)		probably benign	Het
Ppp1r9a	A	G	6: 4,906,537 (GRCm39)	D364G	possibly damaging	Het
Rab2b	T	A	14: 52,503,699 (GRCm39)	H141L	possibly damaging	Het
Rev3l	A	G	10: 39,704,412 (GRCm39)	K279E	probably benign	Het
Rnf111	G	T	9: 70,357,678 (GRCm39)	T607N	probably benign	Het
Scn8a	C	A	15: 100,914,384 (GRCm39)	S1130*	probably null	Het
Selenbp1	A	G	3: 94,851,879 (GRCm39)	*473W	probably null	Het
Sh3bp4	A	C	1: 89,071,995 (GRCm39)	D281A	probably damaging	Het
Skint5	T	A	4: 113,486,314 (GRCm39)		probably null	Het
Slc1a4	A	G	11: 20,258,452 (GRCm39)	L249P	probably damaging	Het
Slc45a2	T	A	15: 11,012,662 (GRCm39)	S222T	probably benign	Het
Slc7a4	A	G	16: 17,392,255 (GRCm39)	F393S	probably damaging	Het
Slc9a2	A	T	1: 40,801,078 (GRCm39)	D536V	possibly damaging	Het
Stra6	T	A	9: 58,048,115 (GRCm39)		probably benign	Het
Tmem145	A	G	7: 25,007,250 (GRCm39)	D156G	probably benign	Het
Tns3	A	C	11: 8,401,119 (GRCm39)	F1060V	probably benign	Het
Trak1	G	A	9: 121,283,491 (GRCm39)	R419Q	probably benign	Het
Trappc8	A	G	18: 21,000,865 (GRCm39)	S273P	probably benign	Het
Trmt11	A	G	10: 30,435,200 (GRCm39)	S320P	probably benign	Het
Ugt1a6a	A	T	1: 88,066,980 (GRCm39)	Y262F	probably benign	Het
Vmn1r73	G	A	7: 11,490,758 (GRCm39)	C192Y	probably benign	Het
Vmn2r103	T	C	17: 20,013,958 (GRCm39)	I250T	probably benign	Het
Vmn2r25	T	A	6: 123,829,962 (GRCm39)	D63V	possibly damaging	Het
Vps13b	C	T	15: 35,646,278 (GRCm39)	H1461Y	possibly damaging	Het
Ythdc2	A	T	18: 45,020,698 (GRCm39)	E1427D	probably benign	Het
Zbed6	A	T	1: 133,586,482 (GRCm39)	V285E	probably damaging	Het
Zbtb26	A	G	2: 37,326,968 (GRCm39)	F23L	probably benign	Het
Zfp62	T	A	11: 49,108,632 (GRCm39)	*908R	probably null	Het
Zkscan16	G	A	4: 58,951,918 (GRCm39)	V198M	probably damaging	Het

Other mutations in Zfp975

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02008:Zfp975	APN	7	42,312,215 (GRCm39)	missense	probably damaging	1.00
R0194:Zfp975	UTSW	7	42,311,916 (GRCm39)	missense	probably benign	0.02
R0662:Zfp975	UTSW	7	42,311,950 (GRCm39)	missense	probably benign	0.02
R1491:Zfp975	UTSW	7	42,312,236 (GRCm39)	missense	probably benign	0.19
R1573:Zfp975	UTSW	7	42,311,507 (GRCm39)	missense	probably benign	0.03
R1738:Zfp975	UTSW	7	42,312,373 (GRCm39)	missense	probably benign	0.05
R1833:Zfp975	UTSW	7	42,311,263 (GRCm39)	missense	probably benign	0.01
R2185:Zfp975	UTSW	7	42,311,105 (GRCm39)	missense	possibly damaging	0.90
R4031:Zfp975	UTSW	7	42,312,377 (GRCm39)	nonsense	probably null
R4090:Zfp975	UTSW	7	42,312,298 (GRCm39)	missense	probably benign	0.10
R4356:Zfp975	UTSW	7	42,311,251 (GRCm39)	missense	probably damaging	1.00
R4795:Zfp975	UTSW	7	42,314,570 (GRCm39)	critical splice acceptor site	probably null
R4896:Zfp975	UTSW	7	42,311,716 (GRCm39)	missense	probably damaging	1.00
R5266:Zfp975	UTSW	7	42,311,654 (GRCm39)	missense	probably damaging	1.00
R5267:Zfp975	UTSW	7	42,311,654 (GRCm39)	missense	probably damaging	1.00
R5580:Zfp975	UTSW	7	42,314,513 (GRCm39)	nonsense	probably null
R5874:Zfp975	UTSW	7	42,312,312 (GRCm39)	missense	probably benign	0.00
R5898:Zfp975	UTSW	7	42,311,963 (GRCm39)	missense	probably damaging	1.00
R6529:Zfp975	UTSW	7	42,311,325 (GRCm39)	missense	possibly damaging	0.79
R6782:Zfp975	UTSW	7	42,311,454 (GRCm39)	missense	probably benign	0.41
R6937:Zfp975	UTSW	7	42,314,480 (GRCm39)	missense	possibly damaging	0.61
R7088:Zfp975	UTSW	7	42,312,096 (GRCm39)	missense	probably benign	0.02
R7233:Zfp975	UTSW	7	42,311,918 (GRCm39)	missense	probably benign	0.38
R7253:Zfp975	UTSW	7	42,311,036 (GRCm39)	makesense	probably null
R7358:Zfp975	UTSW	7	42,312,215 (GRCm39)	missense	probably damaging	1.00
R7659:Zfp975	UTSW	7	42,311,848 (GRCm39)	missense	probably benign	0.00
R7999:Zfp975	UTSW	7	42,312,356 (GRCm39)	missense	probably benign	0.02
R8676:Zfp975	UTSW	7	42,312,264 (GRCm39)	missense	probably benign	0.44
R8957:Zfp975	UTSW	7	42,311,157 (GRCm39)	missense	probably damaging	1.00
R9274:Zfp975	UTSW	7	42,312,299 (GRCm39)	missense	probably benign	0.02
R9326:Zfp975	UTSW	7	42,311,837 (GRCm39)	nonsense	probably null
R9536:Zfp975	UTSW	7	42,312,345 (GRCm39)	missense	probably benign	0.11
R9569:Zfp975	UTSW	7	42,311,413 (GRCm39)	missense	probably benign	0.00
R9717:Zfp975	UTSW	7	42,312,332 (GRCm39)	missense	possibly damaging	0.50

Predicted Primers

PCR Primer
(F):5'- CTCCTTAGTGCAAAGGCTTTACC -3'
(R):5'- TGAACTGAGGACCTCTGGAAGAG -3'

Sequencing Primer
(F):5'- CTGGGATGTACAAAGGCTTTACCAC -3'
(R):5'- GCCAATGCTCTTAACAGCTAGG -3'

Posted On

2015-10-08