Mutagenetix > Incidental Mutation

Incidental Mutation 'R8402:Zfp607b'

652231

Institutional Source

Beutler Lab

Gene Symbol

Zfp607b

Ensembl Gene

ENSMUSG00000057093

Gene Name

zinc finger protein 607B

Synonyms

C030039L03Rik

MMRRC Submission

067878-MU

Accession Numbers

Essential gene?

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

Stock #

R8402 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

27689340-27706484 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 27702702 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 194 (H194Q)

Ref Sequence

ENSEMBL: ENSMUSP00000112494 (fasta)

Gene Model

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

AlphaFold

G3X9H3

Predicted Effect

probably damaging
Transcript: ENSMUST00000076421
AA Change: H194Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000075755
Gene: ENSMUSG00000057093
AA Change: H194Q

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

probably damaging
Transcript: ENSMUST00000120004
AA Change: H194Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000112494
Gene: ENSMUSG00000057093
AA Change: H194Q

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

Meta Mutation Damage Score

0.8085

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

100% (36/36)

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4922502D21Rik	T	A	6: 129,323,044	D157V	possibly damaging	Het
Adamts12	A	T	15: 11,263,290	K579N	probably damaging	Het
Adcy7	T	C	8: 88,308,735	V89A	probably benign	Het
Anapc1	G	A	2: 128,630,228	S1458L	probably benign	Het
AW551984	T	C	9: 39,597,653	Y325C	probably damaging	Het
Btnl4	T	C	17: 34,469,493	Y437C	probably damaging	Het
Ccdc88a	T	A	11: 29,463,879	S806T	probably damaging	Het
Ddit4l	A	G	3: 137,626,127	T85A	probably damaging	Het
Dmxl1	G	A	18: 49,878,326	W1183*	probably null	Het
Dmxl1	G	C	18: 49,878,327	D1184H	probably benign	Het
Dmxl1	G	T	18: 49,878,342	V1189L	probably benign	Het
Evpl	T	C	11: 116,225,371	D820G	probably benign	Het
Fam76b	T	C	9: 13,839,676	S289P	probably damaging	Het
Fan1	T	A	7: 64,372,486	N340Y	probably damaging	Het
Gabrb2	T	C	11: 42,487,304	W116R	probably damaging	Het
Galnt7	G	A	8: 57,542,919	A355V	probably damaging	Het
Klk1b5	T	G	7: 44,218,538	F45V	probably benign	Het
Nav2	T	C	7: 49,453,437	V661A	probably benign	Het
Nfkbiz	T	C	16: 55,816,387	N517S	probably damaging	Het
Olfr1330	A	G	4: 118,893,519	I145M	probably benign	Het
Olfr975	T	A	9: 39,950,417	Y118F	probably benign	Het
P2rx1	T	C	11: 73,013,889	F368L	probably damaging	Het
Palld	A	T	8: 61,711,406	V417E	probably damaging	Het
Robo1	C	A	16: 73,024,497	A1375E	probably benign	Het
Rps24	G	T	14: 24,490,761		probably benign	Het
Serpind1	A	G	16: 17,337,085	N259D	probably benign	Het
Sh3bp4	C	A	1: 89,145,315	N628K	probably benign	Het
Tada3	A	T	6: 113,374,813	L177Q	probably damaging	Het
Tcam1	T	A	11: 106,286,905	L508Q	probably damaging	Het
Thbs1	T	C	2: 118,115,878	S360P	possibly damaging	Het
Tmem33	T	C	5: 67,267,375		probably benign	Het
Vmn2r3	A	G	3: 64,271,196		probably benign	Het
Vwa3b	A	G	1: 37,165,798	E121G	probably damaging	Het
Zfp729b	G	A	13: 67,592,577	P523L	probably damaging	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
R1672:Zfp607b	UTSW	7	27692523	missense	possibly damaging	0.86
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
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'- TTCAAAGGACTACAGGGTTATCAAG -3'
(R):5'- AGACACGGCTGAAGAACTTCC -3'

Sequencing Primer
(F):5'- CTACAGGGTTATCAAGGAGATGCTG -3'
(R):5'- GGCTTTTCACCTGTATGAATGAC -3'

Posted On

2020-10-20