Mutagenetix > Incidental Mutation

Incidental Mutation 'R1688:Zfp605'

189485

Institutional Source

Beutler Lab

Gene Symbol

Zfp605

Ensembl Gene

ENSMUSG00000023284

Gene Name

zinc finger protein 605

Synonyms

A830023I12Rik

MMRRC Submission

039721-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

R1688 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

110257958-110277660 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 110276907 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 675 (I675N)

Ref Sequence

ENSEMBL: ENSMUSP00000108147 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000086686] [ENSMUST00000112528] [ENSMUST00000147631]

AlphaFold

E9QAH2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000086686
AA Change: I675N

PolyPhen 2 Score 0.835 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000083891
Gene: ENSMUSG00000023284
AA Change: I675N

Domain	Start	End	E-Value	Type
KRAB	6	66	3.75e-28	SMART
low complexity region	147	159	N/A	INTRINSIC
ZnF_C2H2	200	222	1.36e-2	SMART
ZnF_C2H2	228	250	4.38e1	SMART
ZnF_C2H2	305	327	1.18e-2	SMART
ZnF_C2H2	333	355	5.14e-3	SMART
ZnF_C2H2	361	383	9.73e-4	SMART
ZnF_C2H2	389	411	4.99e1	SMART
ZnF_C2H2	443	465	5.4e1	SMART
ZnF_C2H2	471	493	1.3e-4	SMART
ZnF_C2H2	499	521	4.24e-4	SMART
ZnF_C2H2	527	549	1.95e-3	SMART
ZnF_C2H2	555	577	2.09e-3	SMART
ZnF_C2H2	583	605	1.2e-3	SMART
ZnF_C2H2	611	633	1.79e-2	SMART
ZnF_C2H2	639	661	2.53e-2	SMART
ZnF_C2H2	667	689	2.09e-3	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000112528
AA Change: I675N

PolyPhen 2 Score 0.835 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000108147
Gene: ENSMUSG00000023284
AA Change: I675N

Domain	Start	End	E-Value	Type
KRAB	6	66	3.75e-28	SMART
low complexity region	147	159	N/A	INTRINSIC
ZnF_C2H2	200	222	1.36e-2	SMART
ZnF_C2H2	228	250	4.38e1	SMART
ZnF_C2H2	305	327	1.18e-2	SMART
ZnF_C2H2	333	355	5.14e-3	SMART
ZnF_C2H2	361	383	9.73e-4	SMART
ZnF_C2H2	389	411	4.99e1	SMART
ZnF_C2H2	443	465	5.4e1	SMART
ZnF_C2H2	471	493	1.3e-4	SMART
ZnF_C2H2	499	521	4.24e-4	SMART
ZnF_C2H2	527	549	1.95e-3	SMART
ZnF_C2H2	555	577	2.09e-3	SMART
ZnF_C2H2	583	605	1.2e-3	SMART
ZnF_C2H2	611	633	1.79e-2	SMART
ZnF_C2H2	639	661	2.53e-2	SMART
ZnF_C2H2	667	689	2.09e-3	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144089

Predicted Effect

probably benign
Transcript: ENSMUST00000147631

SMART Domains

Protein: ENSMUSP00000122236
Gene: ENSMUSG00000023284

Domain	Start	End	E-Value	Type
KRAB	6	66	3.75e-28	SMART

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.7%

Validation Efficiency

100% (71/71)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930486L24Rik	T	C	13: 61,002,695 (GRCm39)	T20A	probably benign	Het
Acaca	T	G	11: 84,129,722 (GRCm39)	V359G	probably damaging	Het
Adgb	G	A	10: 10,226,061 (GRCm39)	R1359*	probably null	Het
Aggf1	T	C	13: 95,501,275 (GRCm39)	E369G	probably damaging	Het
Alkbh8	T	A	9: 3,382,765 (GRCm39)	D418E	probably damaging	Het
Alox8	T	C	11: 69,080,732 (GRCm39)	D203G	probably benign	Het
Ank	A	G	15: 27,557,320 (GRCm39)	D168G	probably damaging	Het
Ap5m1	A	G	14: 49,318,291 (GRCm39)		probably null	Het
Arhgap45	A	G	10: 79,864,929 (GRCm39)	Y964C	probably damaging	Het
Arhgef2	A	G	3: 88,547,607 (GRCm39)	D571G	probably benign	Het
Bdh2	A	T	3: 135,007,399 (GRCm39)	Y223F	possibly damaging	Het
Bin1	T	C	18: 32,552,988 (GRCm39)		probably benign	Het
Bin1	G	A	18: 32,558,025 (GRCm39)		probably benign	Het
Cacna1g	T	A	11: 94,316,779 (GRCm39)	M1514L	possibly damaging	Het
Cd109	T	A	9: 78,612,373 (GRCm39)	F1253L	probably benign	Het
Cfap57	T	A	4: 118,426,843 (GRCm39)	E1065V	probably null	Het
Chmp2b	T	C	16: 65,347,922 (GRCm39)	N14S	probably benign	Het
Cplane1	T	C	15: 8,258,093 (GRCm39)	V2113A	probably benign	Het
Crybg1	A	T	10: 43,849,794 (GRCm39)	F1660L	probably damaging	Het
Cyp2c37	T	G	19: 39,982,887 (GRCm39)		probably null	Het
Daam1	A	T	12: 71,993,820 (GRCm39)	I408F	unknown	Het
Dsc3	T	A	18: 20,099,284 (GRCm39)	D744V	probably damaging	Het
Eprs1	T	C	1: 185,117,093 (GRCm39)	F379L	probably damaging	Het
Ewsr1	G	T	11: 5,022,870 (GRCm39)	D417E	unknown	Het
Eya4	A	T	10: 22,999,759 (GRCm39)	N424K	probably damaging	Het
Gm9312	A	C	12: 24,301,920 (GRCm39)		noncoding transcript	Het
Havcr2	T	C	11: 46,370,191 (GRCm39)	I206T	probably damaging	Het
Igfbp2	T	C	1: 72,864,125 (GRCm39)		probably null	Het
Ikzf2	T	C	1: 69,581,439 (GRCm39)	K196R	possibly damaging	Het
Il12rb1	G	A	8: 71,272,046 (GRCm39)	G587R	probably damaging	Het
Immt	A	T	6: 71,833,995 (GRCm39)	H208L	probably damaging	Het
Kcnq2	C	T	2: 180,728,826 (GRCm39)	V540I	probably damaging	Het
Klk1b8	T	A	7: 43,595,229 (GRCm39)		probably benign	Het
Mc2r	T	A	18: 68,541,090 (GRCm39)	I68F	possibly damaging	Het
Neil3	T	C	8: 54,054,069 (GRCm39)	E320G	probably damaging	Het
Nell2	T	C	15: 95,329,494 (GRCm39)	T276A	probably damaging	Het
Nphp3	T	C	9: 103,880,323 (GRCm39)	L115P	probably damaging	Het
Nras	T	C	3: 102,967,689 (GRCm39)	L95P	probably benign	Het
Ogt	G	A	X: 100,699,296 (GRCm39)	V190I	probably damaging	Het
Or11h6	A	T	14: 50,880,705 (GRCm39)	K322N	probably benign	Het
Or5t17	A	G	2: 86,832,730 (GRCm39)	Y139C	probably benign	Het
P2ry6	T	A	7: 100,587,591 (GRCm39)	H256L	probably damaging	Het
Pcbp4	T	C	9: 106,338,533 (GRCm39)	S153P	probably damaging	Het
Pclo	T	C	5: 14,838,507 (GRCm39)		probably null	Het
Per2	A	G	1: 91,351,551 (GRCm39)	L985P	probably damaging	Het
Pgap6	C	T	17: 26,337,882 (GRCm39)	A422V	possibly damaging	Het
Phip	T	C	9: 82,753,710 (GRCm39)	N1678S	probably benign	Het
Pkd1l3	A	G	8: 110,350,450 (GRCm39)	S432G	probably benign	Het
Plin4	T	A	17: 56,416,363 (GRCm39)	D47V	possibly damaging	Het
Ppp2cb	A	G	8: 34,105,480 (GRCm39)	I163M	probably benign	Het
Ptpdc1	T	C	13: 48,739,700 (GRCm39)	E577G	probably benign	Het
Ptprd	G	T	4: 75,900,921 (GRCm39)	P1063T	probably damaging	Het
Ptpru	T	C	4: 131,514,656 (GRCm39)	D866G	probably benign	Het
Rdx	T	C	9: 51,972,211 (GRCm39)		probably benign	Het
Rgsl1	C	T	1: 153,680,422 (GRCm39)	R760H	probably damaging	Het
Rhno1	A	G	6: 128,334,897 (GRCm39)	V142A	probably benign	Het
Sema5a	C	T	15: 32,669,570 (GRCm39)	T698I	probably benign	Het
Serpina3a	A	T	12: 104,084,902 (GRCm39)	D99V	probably benign	Het
Slc22a3	A	T	17: 12,652,694 (GRCm39)	M350K	probably damaging	Het
Spata31d1b	T	A	13: 59,863,274 (GRCm39)	S141T	possibly damaging	Het
Tada2a	T	C	11: 83,975,585 (GRCm39)		probably null	Het
Tspan10	A	G	11: 120,333,608 (GRCm39)	M2V	probably damaging	Het
Ttll11	T	C	2: 35,685,391 (GRCm39)	T566A	probably damaging	Het
Vwa8	A	G	14: 79,438,543 (GRCm39)	Q1872R	possibly damaging	Het
Zkscan8	A	T	13: 21,704,324 (GRCm39)	N538K	possibly damaging	Het

Other mutations in Zfp605

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02388:Zfp605	APN	5	110,275,506 (GRCm39)	missense	possibly damaging	0.95
R0010:Zfp605	UTSW	5	110,275,400 (GRCm39)	missense	probably benign	0.03
R0357:Zfp605	UTSW	5	110,272,245 (GRCm39)	missense	probably benign
R0383:Zfp605	UTSW	5	110,276,720 (GRCm39)	missense	probably damaging	1.00
R1017:Zfp605	UTSW	5	110,275,860 (GRCm39)	missense	probably benign	0.42
R1663:Zfp605	UTSW	5	110,275,451 (GRCm39)	missense	probably benign	0.02
R1752:Zfp605	UTSW	5	110,271,639 (GRCm39)	missense	probably damaging	1.00
R1994:Zfp605	UTSW	5	110,275,418 (GRCm39)	missense	probably damaging	1.00
R2173:Zfp605	UTSW	5	110,275,323 (GRCm39)	missense	probably benign	0.00
R3740:Zfp605	UTSW	5	110,276,564 (GRCm39)	missense	probably damaging	1.00
R3742:Zfp605	UTSW	5	110,276,564 (GRCm39)	missense	probably damaging	1.00
R3981:Zfp605	UTSW	5	110,275,604 (GRCm39)	missense	probably damaging	1.00
R4095:Zfp605	UTSW	5	110,275,602 (GRCm39)	missense	probably damaging	1.00
R4349:Zfp605	UTSW	5	110,276,552 (GRCm39)	missense	probably damaging	1.00
R4669:Zfp605	UTSW	5	110,275,227 (GRCm39)	missense	possibly damaging	0.94
R4914:Zfp605	UTSW	5	110,275,567 (GRCm39)	nonsense	probably null
R4994:Zfp605	UTSW	5	110,275,352 (GRCm39)	missense	probably damaging	1.00
R6672:Zfp605	UTSW	5	110,275,863 (GRCm39)	missense	probably damaging	1.00
R6814:Zfp605	UTSW	5	110,275,311 (GRCm39)	missense	probably benign	0.00
R6872:Zfp605	UTSW	5	110,275,311 (GRCm39)	missense	probably benign	0.00
R7251:Zfp605	UTSW	5	110,275,826 (GRCm39)	missense	probably damaging	1.00
R7395:Zfp605	UTSW	5	110,259,885 (GRCm39)	start gained	probably benign
R7560:Zfp605	UTSW	5	110,275,157 (GRCm39)	nonsense	probably null
R7623:Zfp605	UTSW	5	110,275,386 (GRCm39)	missense	probably benign	0.03
R7965:Zfp605	UTSW	5	110,275,316 (GRCm39)	missense	probably benign	0.00
R7999:Zfp605	UTSW	5	110,276,300 (GRCm39)	missense	probably damaging	1.00
R8307:Zfp605	UTSW	5	110,276,063 (GRCm39)	missense	probably damaging	1.00
R8355:Zfp605	UTSW	5	110,259,848 (GRCm39)	start gained	probably benign
R8455:Zfp605	UTSW	5	110,259,848 (GRCm39)	start gained	probably benign
X0063:Zfp605	UTSW	5	110,271,714 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GCCTTCACTGAGAAGTCGAACCTC -3'
(R):5'- TCTGGCTCACTTGCAATCACAGC -3'

Sequencing Primer
(F):5'- gccacatctccttcagcatc -3'
(R):5'- CTAAGCTGTGTCTTCTGGGAAAAC -3'

Posted On

2014-05-14