Mutagenetix > Incidental Mutations

Incidental Mutation 'R6495:Zkscan3'

520459

Institutional Source

Beutler Lab

Gene Symbol

Zkscan3

Ensembl Gene

ENSMUSG00000021327

Gene Name

zinc finger with KRAB and SCAN domains 3

Synonyms

Zfp306, 2810435N07Rik, Zfp307, Skz1

MMRRC Submission

Accession Numbers

Genbank: NM_001145778, NM_023685; MGI: 1919989

Is this an essential gene?

Probably non essential (E-score: 0.132) question?

Stock #

R6495 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

21387003-21402755 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 21387905 bp

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 519 (P519L)

Ref Sequence

ENSEMBL: ENSMUSP00000112135 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070785] [ENSMUST00000116434] [ENSMUST00000117721] [ENSMUST00000223831] [ENSMUST00000224820]

Predicted Effect

probably damaging
Transcript: ENSMUST00000070785
AA Change: P519L

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000068424
Gene: ENSMUSG00000021327
AA Change: P519L

Domain	Start	End	E-Value	Type
SCAN	47	159	4.18e-71	SMART
KRAB	213	273	4.07e-6	SMART
ZnF_C2H2	313	335	4.17e-3	SMART
ZnF_C2H2	341	363	1.38e-3	SMART
ZnF_C2H2	369	391	9.88e-5	SMART
ZnF_C2H2	397	419	1.95e-3	SMART
ZnF_C2H2	425	447	3.95e-4	SMART
ZnF_C2H2	479	501	5.21e-4	SMART
ZnF_C2H2	507	529	1.2e-3	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000116434
AA Change: P519L

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000112135
Gene: ENSMUSG00000021327
AA Change: P519L

Domain	Start	End	E-Value	Type
SCAN	47	159	4.18e-71	SMART
KRAB	213	273	4.07e-6	SMART
ZnF_C2H2	313	335	4.17e-3	SMART
ZnF_C2H2	341	363	1.38e-3	SMART
ZnF_C2H2	369	391	9.88e-5	SMART
ZnF_C2H2	397	419	1.95e-3	SMART
ZnF_C2H2	425	447	3.95e-4	SMART
ZnF_C2H2	479	501	5.21e-4	SMART
ZnF_C2H2	507	529	1.2e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000117721

SMART Domains

Protein: ENSMUSP00000112862
Gene: ENSMUSG00000021327

Domain	Start	End	E-Value	Type
SCAN	47	159	4.18e-71	SMART
KRAB	213	256	3.96e-2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145631

Predicted Effect

probably benign
Transcript: ENSMUST00000223831
AA Change: P352L

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

Predicted Effect

probably benign
Transcript: ENSMUST00000224820

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.8%

Validation Efficiency

100% (50/50)

Allele List at MGI

All alleles(5) : Gene trapped(5)

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak2	T	A	12: 112,773,714	E502V	probably damaging	Het
Apbb1ip	T	A	2: 22,853,120	Y321*	probably null	Het
Apob	A	G	12: 7,990,394	K577R	probably null	Het
Arfgef3	A	G	10: 18,611,202		probably null	Het
Asap3	T	A	4: 136,228,479		probably null	Het
Atp13a5	C	T	16: 29,321,622		probably null	Het
Bcan	C	A	3: 87,996,597	A194S	possibly damaging	Het
Cacybp	T	C	1: 160,208,523	T32A	probably benign	Het
Cd82	A	G	2: 93,430,012	V90A	probably benign	Het
Chd5	C	T	4: 152,367,372	R714C	probably damaging	Het
Cpb2	T	C	14: 75,275,079	Y311H	probably damaging	Het
Cyp39a1	T	C	17: 43,691,694	Y267H	probably benign	Het
Dnajc6	C	T	4: 101,635,065	Q766*	probably null	Het
Dusp3	T	C	11: 101,981,827	I48V	probably benign	Het
Eif3c	A	T	7: 126,547,500	F809I	probably damaging	Het
Exosc10	C	T	4: 148,562,872	P213S	probably benign	Het
Galns	C	T	8: 122,600,610	G141D	probably damaging	Het
Gm3233	A	T	10: 77,759,052		probably benign	Het
Hadha	A	T	5: 30,120,050	L714H	probably benign	Het
Map3k20	T	C	2: 72,368,419	M123T	probably damaging	Het
Nt5dc1	A	G	10: 34,324,369	L217P	probably damaging	Het
Nubp2	A	T	17: 24,885,603	D54E	probably damaging	Het
Olfr1471	T	A	19: 13,445,625	D204E	probably benign	Het
Onecut1	C	T	9: 74,863,215	R307C	probably damaging	Het
Pcdhb17	A	G	18: 37,485,667	Y170C	probably damaging	Het
Pkd2	T	A	5: 104,489,293	C591S	probably damaging	Het
Pramef20	T	C	4: 144,376,839	N239S	probably benign	Het
Pwp2	A	T	10: 78,177,127	V549E	probably damaging	Het
Rapsn	A	T	2: 91,036,628	S92C	probably damaging	Het
Rbm19	A	G	5: 120,119,680	S90G	probably damaging	Het
Rfc1	G	A	5: 65,273,815		probably null	Het
Rims2	T	A	15: 39,517,812	F1046L	probably benign	Het
S100a16	C	T	3: 90,542,428	R73C	probably benign	Het
Shroom3	T	C	5: 92,942,069	Y893H	possibly damaging	Het
Stt3b	T	A	9: 115,267,320	Y253F	possibly damaging	Het
Taar8b	A	G	10: 24,091,262	*345Q	probably null	Het
Tas2r119	G	A	15: 32,177,530	V81I	probably benign	Het
Tas2r129	A	G	6: 132,951,165	I22V	probably benign	Het
Tbc1d19	T	G	5: 53,889,213		probably null	Het
Tnip3	A	T	6: 65,605,862	I218F	probably benign	Het
Tnks	A	T	8: 34,839,966		probably null	Het
Ttc29	T	C	8: 78,282,334	Y278H	possibly damaging	Het
Uba7	T	A	9: 107,977,014	C214*	probably null	Het
Vmn2r115	A	T	17: 23,359,598	I682F	probably benign	Het
Vmn2r75	A	T	7: 86,164,079	M505K	probably benign	Het
Wdr19	A	T	5: 65,258,123	T1313S	probably benign	Het
Zbtb22	A	G	17: 33,917,250	D123G	probably damaging	Het
Zcchc6	T	C	13: 59,799,939	E454G	possibly damaging	Het
Zdhhc7	A	G	8: 120,086,656	I138T	probably benign	Het
Zfp706	T	C	15: 37,003,801	K7R	unknown	Het

Other mutations in Zkscan3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01574:Zkscan3	APN	13	21394091	splice site	probably benign
IGL02406:Zkscan3	APN	13	21388178	missense	possibly damaging	0.71
IGL02725:Zkscan3	APN	13	21394893	missense	possibly damaging	0.85
IGL02741:Zkscan3	APN	13	21393994	missense	probably benign	0.05
3-1:Zkscan3	UTSW	13	21387881	missense	probably benign	0.32
R0040:Zkscan3	UTSW	13	21394920	splice site	probably null
R0040:Zkscan3	UTSW	13	21394920	splice site	probably null
R0133:Zkscan3	UTSW	13	21394774	missense	possibly damaging	0.73
R0660:Zkscan3	UTSW	13	21388460	missense	probably damaging	1.00
R0737:Zkscan3	UTSW	13	21388596	missense	probably benign
R1250:Zkscan3	UTSW	13	21388524	missense	probably benign	0.32
R1671:Zkscan3	UTSW	13	21396135	missense	possibly damaging	0.93
R1926:Zkscan3	UTSW	13	21396446	missense	possibly damaging	0.88
R2899:Zkscan3	UTSW	13	21393973	missense	probably damaging	1.00
R4119:Zkscan3	UTSW	13	21393949	missense	possibly damaging	0.65
R4120:Zkscan3	UTSW	13	21393949	missense	possibly damaging	0.65
R4606:Zkscan3	UTSW	13	21393783	missense	probably benign	0.00
R5459:Zkscan3	UTSW	13	21394812	missense	probably damaging	0.96
R5549:Zkscan3	UTSW	13	21394063	missense	probably damaging	1.00
R5631:Zkscan3	UTSW	13	21394533	missense	probably damaging	1.00
R5988:Zkscan3	UTSW	13	21396291	missense	probably damaging	1.00
R7286:Zkscan3	UTSW	13	21394813	missense	probably benign
R7363:Zkscan3	UTSW	13	21387822	missense	probably damaging	0.99
R7443:Zkscan3	UTSW	13	21388438	nonsense	probably null
R7787:Zkscan3	UTSW	13	21387864	missense	possibly damaging	0.53
Z1088:Zkscan3	UTSW	13	21388565	missense	possibly damaging	0.53

Predicted Primers

PCR Primer
(F):5'- TTCCAATGGGTGAGGACTCTTG -3'
(R):5'- CCTTACTGGGAAAGTCAGAGTAGG -3'

Sequencing Primer
(F):5'- GTGAGGACTCTTGTAGACAACTC -3'
(R):5'- TCAGAGTAGGGTGGAAAGCC -3'

Posted On

2018-06-06