Mutagenetix > Incidental Mutation

Incidental Mutation 'R6814:Zfp605'

534001

Institutional Source

Beutler Lab

Gene Symbol

Zfp605

Ensembl Gene

ENSMUSG00000023284

Gene Name

zinc finger protein 605

Synonyms

A830023I12Rik

MMRRC Submission

044926-MU

Accession Numbers

Essential gene?

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

Stock #

R6814 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

110257958-110277660 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 110275311 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 143 (P143L)

Ref Sequence

ENSEMBL: ENSMUSP00000108147 (fasta)

Gene Model

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

AlphaFold

E9QAH2

Predicted Effect

probably benign
Transcript: ENSMUST00000086686
AA Change: P143L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000083891
Gene: ENSMUSG00000023284
AA Change: P143L

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

probably benign
Transcript: ENSMUST00000112528
AA Change: P143L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000108147
Gene: ENSMUSG00000023284
AA Change: P143L

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

probably benign
Transcript: ENSMUST00000147631

SMART Domains

Protein: ENSMUSP00000122236
Gene: ENSMUSG00000023284

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.6%

Validation Efficiency

100% (48/48)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4	G	A	4: 144,349,750 (GRCm39)	V336I	probably benign	Het
Aadacl4fm4	A	T	4: 144,397,216 (GRCm39)	L172*	probably null	Het
Abca7	G	A	10: 79,838,833 (GRCm39)	V669I	probably damaging	Het
Abcg3	T	C	5: 105,083,860 (GRCm39)	T637A	probably benign	Het
Afap1l1	A	T	18: 61,866,812 (GRCm39)	V749E	probably benign	Het
Arfgef3	A	G	10: 18,470,767 (GRCm39)	L1666S	probably damaging	Het
Atp2b1	A	G	10: 98,858,877 (GRCm39)	N284D	possibly damaging	Het
Ccdc196	T	A	12: 78,244,141 (GRCm39)	D31E	probably damaging	Het
Ccdc24	T	C	4: 117,727,123 (GRCm39)	T196A	probably benign	Het
Cdc20b	G	A	13: 113,220,509 (GRCm39)	G463S	probably damaging	Het
Ceacam5	A	T	7: 17,486,212 (GRCm39)	R570*	probably null	Het
Cit	G	A	5: 116,023,022 (GRCm39)	C283Y	probably damaging	Het
Cpa5	A	T	6: 30,614,053 (GRCm39)	Q65L	probably benign	Het
Cspg4	A	G	9: 56,797,624 (GRCm39)	I1363V	possibly damaging	Het
D2hgdh	C	A	1: 93,763,025 (GRCm39)	T270N	possibly damaging	Het
Dnah8	G	T	17: 30,981,653 (GRCm39)	L3058F	probably damaging	Het
Dnajb8	A	G	6: 88,200,022 (GRCm39)	N186S	probably damaging	Het
Dock4	T	C	12: 40,862,325 (GRCm39)		probably null	Het
Ear6	A	G	14: 52,091,885 (GRCm39)	Y144C	probably damaging	Het
Fam53a	T	C	5: 33,767,829 (GRCm39)	Y27C	probably benign	Het
Fgf2	A	G	3: 37,458,860 (GRCm39)	K85E	probably damaging	Het
Fubp1	A	T	3: 151,931,783 (GRCm39)	Q37L	probably benign	Het
Gabra2	G	T	5: 71,251,882 (GRCm39)	P22T	probably damaging	Het
Gm10401	T	C	5: 115,236,245 (GRCm39)		probably benign	Het
Iglv3	A	G	16: 19,060,034 (GRCm39)	I98T	probably damaging	Het
Nlrp2	C	T	7: 5,311,709 (GRCm39)	R922H	probably benign	Het
Nr1h4	T	C	10: 89,290,607 (GRCm39)	T474A	probably damaging	Het
Pcdhb20	A	C	18: 37,639,218 (GRCm39)	E581D	probably benign	Het
Pidd1	G	T	7: 141,019,331 (GRCm39)	T750K	probably benign	Het
Pigq	A	T	17: 26,150,630 (GRCm39)		probably benign	Het
Rab44	A	G	17: 29,358,784 (GRCm39)	E324G	probably benign	Het
Slc24a3	C	T	2: 145,458,630 (GRCm39)	Q537*	probably null	Het
Slc34a1	T	C	13: 24,006,372 (GRCm39)	I466T	possibly damaging	Het
Slc7a10	T	C	7: 34,894,689 (GRCm39)	V116A	probably damaging	Het
Taf15	T	A	11: 83,389,915 (GRCm39)	N228K	probably damaging	Het
Tbx19	A	T	1: 164,975,202 (GRCm39)		probably null	Het
Tgoln1	A	G	6: 72,592,538 (GRCm39)	V314A	possibly damaging	Het
Them4	A	T	3: 94,231,678 (GRCm39)	I172F	probably damaging	Het
Tmc7	T	A	7: 118,146,846 (GRCm39)	Y477F	probably benign	Het
Tmem132a	A	G	19: 10,840,669 (GRCm39)	L421P	probably damaging	Het
Vamp5	G	A	6: 72,357,424 (GRCm39)		probably benign	Het
Vmn2r11	T	G	5: 109,194,976 (GRCm39)	R783S	possibly damaging	Het
Zfp180	G	T	7: 23,805,306 (GRCm39)	C575F	probably damaging	Het
Zfp189	A	T	4: 49,529,026 (GRCm39)	N43I	probably damaging	Het
Zfp36l2	A	G	17: 84,493,521 (GRCm39)		probably benign	Het
Zfp592	T	C	7: 80,673,576 (GRCm39)	V180A	probably benign	Het
Zfp646	T	C	7: 127,482,505 (GRCm39)	S1561P	probably benign	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
R1688:Zfp605	UTSW	5	110,276,907 (GRCm39)	missense	possibly damaging	0.83
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
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'- TCTGAACTATGGCTTCAAGATGAAC -3'
(R):5'- TTCTCTGGTGTACAATAAGCTGTG -3'

Sequencing Primer
(F):5'- CTATGGCTTCAAGATGAACAAGAC -3'
(R):5'- CTGGTGTACAATAAGCTGTGATTTC -3'

Posted On

2018-09-12