Mutagenetix > Incidental Mutation

Incidental Mutation 'R1672:Zfp607b'

187701

Institutional Source

Beutler Lab

Gene Symbol

Zfp607b

Ensembl Gene

ENSMUSG00000057093

Gene Name

zinc finger protein 607B

Synonyms

C030039L03Rik

MMRRC Submission

039708-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

R1672 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

27689340-27706484 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 27692523 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 8 (H8Y)

Ref Sequence

ENSEMBL: ENSMUSP00000112494 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076421] [ENSMUST00000120004]

AlphaFold

G3X9H3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000076421
AA Change: H8Y

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000075755
Gene: ENSMUSG00000057093
AA Change: H8Y

Domain	Start	End	E-Value	Type
KRAB	14	75	1.29e-35	SMART
ZnF_C2H2	172	194	1.08e-1	SMART
ZnF_C2H2	200	222	4.24e-4	SMART
ZnF_C2H2	228	250	2.2e-2	SMART
ZnF_C2H2	256	278	1.69e-3	SMART
ZnF_C2H2	284	306	4.94e-5	SMART
ZnF_C2H2	312	334	2.36e-2	SMART
ZnF_C2H2	339	361	1.18e-2	SMART
ZnF_C2H2	367	389	1.67e-2	SMART
ZnF_C2H2	395	417	1.38e-3	SMART
ZnF_C2H2	423	445	1.06e-4	SMART
ZnF_C2H2	451	473	1.67e-2	SMART
ZnF_C2H2	479	501	6.67e-2	SMART
ZnF_C2H2	507	529	3.52e-1	SMART
ZnF_C2H2	535	557	3.49e-5	SMART
ZnF_C2H2	563	585	1.56e-2	SMART
ZnF_C2H2	591	613	3.89e-3	SMART
ZnF_C2H2	619	641	9.73e-4	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000120004
AA Change: H8Y

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000112494
Gene: ENSMUSG00000057093
AA Change: H8Y

Domain	Start	End	E-Value	Type
KRAB	14	75	1.29e-35	SMART
ZnF_C2H2	172	194	1.08e-1	SMART
ZnF_C2H2	200	222	4.24e-4	SMART
ZnF_C2H2	228	250	2.2e-2	SMART
ZnF_C2H2	256	278	1.69e-3	SMART
ZnF_C2H2	284	306	4.94e-5	SMART
ZnF_C2H2	312	334	2.36e-2	SMART
ZnF_C2H2	339	361	1.18e-2	SMART
ZnF_C2H2	367	389	1.67e-2	SMART
ZnF_C2H2	395	417	1.38e-3	SMART
ZnF_C2H2	423	445	1.06e-4	SMART
ZnF_C2H2	451	473	1.67e-2	SMART
ZnF_C2H2	479	501	6.67e-2	SMART
ZnF_C2H2	507	529	3.52e-1	SMART
ZnF_C2H2	535	557	3.49e-5	SMART
ZnF_C2H2	563	585	1.56e-2	SMART
ZnF_C2H2	591	613	3.89e-3	SMART
ZnF_C2H2	619	641	9.73e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124397

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127200

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 103 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310079G19Rik	G	A	16: 88,627,208	Q132*	probably null	Het
4930430A15Rik	T	A	2: 111,220,774	M226L	probably benign	Het
Aadacl4	T	A	4: 144,623,319	L382*	probably null	Het
Afg3l2	A	G	18: 67,407,423	I672T	probably benign	Het
Aftph	A	T	11: 20,726,762	D282E	probably benign	Het
Agpat5	A	G	8: 18,870,914	N161S	probably benign	Het
Alpk2	C	T	18: 65,280,959	E1562K	probably damaging	Het
Anxa2	TCCC	TCC	9: 69,489,754		probably null	Het
Apobr	A	G	7: 126,587,551	R745G	probably benign	Het
Arrdc5	T	C	17: 56,300,144	T34A	possibly damaging	Het
Astl	T	C	2: 127,347,243	L163P	probably damaging	Het
Atf7ip2	A	T	16: 10,209,141	H91L	probably damaging	Het
Atp13a3	A	T	16: 30,332,274	S1073T	possibly damaging	Het
Bcl2a1a	A	T	9: 88,957,450	I134L	probably damaging	Het
Brinp1	T	C	4: 68,829,283		probably null	Het
Capn9	A	G	8: 124,613,831	N578S	probably benign	Het
Casp2	T	A	6: 42,268,908	D166E	probably damaging	Het
Ccr1l1	A	T	9: 123,977,507	I301N	probably damaging	Het
Chtop	T	A	3: 90,507,567	T15S	probably damaging	Het
Coq5	T	A	5: 115,279,916		probably null	Het
Crbn	G	A	6: 106,795,925	P34L	probably damaging	Het
Crisp1	G	T	17: 40,308,869	D59E	possibly damaging	Het
Cyp4f14	A	T	17: 32,909,236	D268E	probably benign	Het
D5Ertd579e	T	C	5: 36,613,277	D1258G	possibly damaging	Het
Dcp1b	T	C	6: 119,217,911	S531P	probably benign	Het
Defb25	T	C	2: 152,622,490	M45V	probably benign	Het
Dffa	T	C	4: 149,106,245	L77P	probably damaging	Het
Dixdc1	T	C	9: 50,689,864	Q361R	probably damaging	Het
Dnah1	A	G	14: 31,276,200	L2560P	probably damaging	Het
Fabp5	A	G	3: 10,015,541	T108A	probably benign	Het
Fam149a	T	G	8: 45,339,374		probably null	Het
Fam20c	A	G	5: 138,807,301	Y430C	probably damaging	Het
Fat1	A	G	8: 45,036,835	T3595A	probably damaging	Het
Fbp1	A	G	13: 62,867,431	Y245H	probably damaging	Het
Frem1	C	T	4: 82,998,891	R605H	probably benign	Het
Fscb	A	G	12: 64,471,518	I1058T	unknown	Het
Fyb2	A	G	4: 104,950,862	K373R	probably benign	Het
Ggta1	A	T	2: 35,402,133	Y387*	probably null	Het
Gm18856	T	C	13: 13,965,757		probably benign	Het
Gm572	T	C	4: 148,668,509	S282P	possibly damaging	Het
Gpd2	A	T	2: 57,357,700	I552F	probably damaging	Het
Grk5	T	C	19: 61,086,215		probably null	Het
Hivep1	T	C	13: 42,160,284	V2000A	probably damaging	Het
Ipo5	C	T	14: 120,933,302	L466F	probably damaging	Het
Itgb1	G	A	8: 128,732,045	S785N	probably damaging	Het
Itpr3	G	A	17: 27,089,013	R258K	probably benign	Het
Kcnk12	A	G	17: 87,746,319	V305A	probably benign	Het
Klf5	C	T	14: 99,301,550	T133I	probably damaging	Het
Lrig2	A	G	3: 104,491,812	I178T	probably damaging	Het
Lyrm4	A	T	13: 36,092,924	M30K	probably benign	Het
Mpv17	A	G	5: 31,153,719	Y7H	probably damaging	Het
Mrps22	T	C	9: 98,596,816		probably null	Het
Myof	A	T	19: 37,943,479	W967R	probably damaging	Het
Naip1	C	T	13: 100,423,149	D1116N	probably benign	Het
Olfr150	G	A	9: 39,737,196	C127Y	probably damaging	Het
Olfr393	T	C	11: 73,847,955	T57A	probably benign	Het
Olfr792	C	A	10: 129,540,692	H52N	probably benign	Het
Olfr826	T	C	10: 130,180,392	T163A	probably benign	Het
Ovol2	T	C	2: 144,305,790	Y180C	probably damaging	Het
Pacs1	T	C	19: 5,152,309	S418G	probably benign	Het
Pcdh1	T	C	18: 38,192,180	E903G	probably damaging	Het
Pcdhb15	A	T	18: 37,474,660	Y315F	probably damaging	Het
Pex1	T	C	5: 3,626,085	L891P	probably damaging	Het
Ppfia2	G	A	10: 106,830,568	M378I	possibly damaging	Het
Ppp1r9a	T	A	6: 5,143,491		probably null	Het
Prm3	T	C	16: 10,790,699	E64G	possibly damaging	Het
Prmt6	T	C	3: 110,250,571	D134G	possibly damaging	Het
Prss42	G	A	9: 110,800,928	G250D	probably damaging	Het
Pwwp2b	G	A	7: 139,254,831	V63I	probably benign	Het
Rbm17	T	C	2: 11,585,719	D375G	possibly damaging	Het
Rhbdl1	A	T	17: 25,836,409		probably null	Het
Rims2	T	A	15: 39,292,189	D128E	probably benign	Het
Rock2	A	G	12: 16,965,652	K850R	probably benign	Het
Rreb1	T	C	13: 37,930,537	I624T	probably benign	Het
Rrp36	A	T	17: 46,672,414	D91E	probably damaging	Het
Scn7a	C	T	2: 66,697,600	D849N	possibly damaging	Het
Sec24a	A	T	11: 51,743,948	Y50*	probably null	Het
Sh2d4b	A	G	14: 40,892,964	M1T	probably null	Het
Slc4a7	A	G	14: 14,760,247	I561V	possibly damaging	Het
Slc7a12	T	C	3: 14,499,277	V70A	possibly damaging	Het
Slfnl1	A	T	4: 120,535,775	I355F	probably damaging	Het
Spata2	C	T	2: 167,483,519	R460H	probably damaging	Het
Stk11ip	C	T	1: 75,528,985	Q433*	probably null	Het
Susd1	T	C	4: 59,411,395	Y146C	probably damaging	Het
Susd5	A	T	9: 114,068,822	D115V	probably damaging	Het
Tas2r110	T	A	6: 132,868,066	V20E	probably damaging	Het
Tbc1d4	T	C	14: 101,475,215	Y694C	possibly damaging	Het
Tmem131	T	C	1: 36,824,759	E640G	probably damaging	Het
Togaram1	A	G	12: 65,021,568	T1782A	probably benign	Het
Trim24	T	C	6: 37,915,279	L249P	probably damaging	Het
Ttf1	T	C	2: 29,067,152	I478T	probably damaging	Het
Upf2	T	A	2: 6,040,097		probably null	Het
Urb1	A	T	16: 90,787,397	C566S	probably damaging	Het
Vmn1r191	T	C	13: 22,179,092	N164S	probably benign	Het
Vmn2r81	T	A	10: 79,268,278	V245E	probably damaging	Het
Vwce	T	A	19: 10,653,095	F506Y	possibly damaging	Het
Wnt8b	T	C	19: 44,511,276	F155L	probably damaging	Het
Xrra1	A	T	7: 99,898,440	I279F	probably benign	Het
Zfp229	T	C	17: 21,745,847	S353P	probably damaging	Het
Zfp933	A	T	4: 147,826,019	H373Q	probably damaging	Het
Zfp938	A	G	10: 82,225,148	L546P	probably benign	Het
Zfp988	C	T	4: 147,331,282	R58C	probably benign	Het
Zkscan14	C	T	5: 145,201,654	V8I	probably benign	Het

Other mutations in Zfp607b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02090:Zfp607b	APN	7	27698715	missense	possibly damaging	0.75
IGL02114:Zfp607b	APN	7	27703725	missense	probably benign	0.19
IGL03171:Zfp607b	APN	7	27693595	missense	possibly damaging	0.70
IGL03329:Zfp607b	APN	7	27703870	missense	probably damaging	1.00
R0988:Zfp607b	UTSW	7	27702976	missense	probably benign	0.34
R1518:Zfp607b	UTSW	7	27698662	missense	possibly damaging	0.95
R1733:Zfp607b	UTSW	7	27692524	missense	possibly damaging	0.66
R1992:Zfp607b	UTSW	7	27702524	missense	possibly damaging	0.87
R2849:Zfp607b	UTSW	7	27702394	missense	probably benign	0.00
R3879:Zfp607b	UTSW	7	27704051	missense	possibly damaging	0.91
R4117:Zfp607b	UTSW	7	27698682	missense	probably damaging	0.97
R4439:Zfp607b	UTSW	7	27702724	missense	probably damaging	1.00
R4610:Zfp607b	UTSW	7	27703695	missense	probably damaging	1.00
R4755:Zfp607b	UTSW	7	27703505	missense	probably damaging	1.00
R4909:Zfp607b	UTSW	7	27703796	missense	probably benign
R5095:Zfp607b	UTSW	7	27693636	intron	probably benign
R5301:Zfp607b	UTSW	7	27703747	missense	probably benign
R5422:Zfp607b	UTSW	7	27702388	missense	probably benign	0.00
R5538:Zfp607b	UTSW	7	27702869	missense	probably damaging	1.00
R5546:Zfp607b	UTSW	7	27702607	missense	probably benign	0.19
R5644:Zfp607b	UTSW	7	27703769	missense	probably damaging	1.00
R5649:Zfp607b	UTSW	7	27703981	missense	probably damaging	1.00
R5692:Zfp607b	UTSW	7	27703464	missense	probably benign	0.17
R5945:Zfp607b	UTSW	7	27702416	missense	probably benign	0.06
R6695:Zfp607b	UTSW	7	27704039	missense	probably benign	0.04
R7402:Zfp607b	UTSW	7	27693494	missense	probably damaging	1.00
R7515:Zfp607b	UTSW	7	27703496	missense	probably benign	0.03
R8402:Zfp607b	UTSW	7	27702702	missense	probably damaging	1.00
R8954:Zfp607b	UTSW	7	27703962	missense	probably benign	0.00
R9494:Zfp607b	UTSW	7	27703667	missense	probably damaging	1.00
R9554:Zfp607b	UTSW	7	27703039	missense	probably damaging	0.99
R9727:Zfp607b	UTSW	7	27703700	missense	probably benign
Z1177:Zfp607b	UTSW	7	27702394	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TCAGCCCTGAGTTTACACAGGAGG -3'
(R):5'- TCAAAGTCAACCGCAGTGCCAG -3'

Sequencing Primer
(F):5'- CAGTGTGAAGATCTGAGATCTGC -3'
(R):5'- GCTGGGAAGAGGCACAGAC -3'

Posted On

2014-05-09