Mutagenetix > Incidental Mutation

Incidental Mutation 'R1671:Zkscan3'

187633

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

039707-MU

Accession Numbers

Genbank: NM_001145778, NM_023685; MGI: 1919989

Essential gene?

Probably non essential (E-score: 0.094) question?

Stock #

R1671 (G1)

Quality Score

169

Status

Validated

Chromosome

Chromosomal Location

21387003-21402755 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 21396135 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 128 (Y128H)

Ref Sequence

ENSEMBL: ENSMUSP00000112135 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070785] [ENSMUST00000116433] [ENSMUST00000116434] [ENSMUST00000117721] [ENSMUST00000223831] [ENSMUST00000224820]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000070785
AA Change: Y128H

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000068424
Gene: ENSMUSG00000021327
AA Change: Y128H

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

possibly damaging
Transcript: ENSMUST00000116433
AA Change: Y128H

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000112134
Gene: ENSMUSG00000021327
AA Change: Y128H

Domain	Start	End	E-Value	Type
SCAN	47	159	4.18e-71	SMART
KRAB	213	273	1.12e-3	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000116434
AA Change: Y128H

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000112135
Gene: ENSMUSG00000021327
AA Change: Y128H

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
AA Change: Y128H

PolyPhen 2 Score 0.178 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000112862
Gene: ENSMUSG00000021327
AA Change: Y128H

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

noncoding transcript
Transcript: ENSMUST00000184464

Predicted Effect

probably benign
Transcript: ENSMUST00000223831

Predicted Effect

probably benign
Transcript: ENSMUST00000224820

Meta Mutation Damage Score

0.2752

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.3%

Validation Efficiency

100% (70/70)

Allele List at MGI

All alleles(5) : Gene trapped(5)

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930578I06Rik	A	C	14: 63,973,188	L197R	probably benign	Het
Arglu1	A	G	8: 8,683,896	V140A	possibly damaging	Het
Arhgef28	T	C	13: 97,931,034	E1461G	possibly damaging	Het
Best3	A	T	10: 117,024,668	D611V	possibly damaging	Het
C130026I21Rik	C	T	1: 85,257,385		probably null	Het
Cenpf	T	C	1: 189,679,144		probably null	Het
Cenpj	A	C	14: 56,565,045	M21R	probably damaging	Het
Cltc	A	T	11: 86,732,595	H201Q	possibly damaging	Het
Col28a1	A	T	6: 8,083,773	N561K	possibly damaging	Het
Cyp2c70	G	A	19: 40,153,637	P470L	probably damaging	Het
Cyp4f14	G	A	17: 32,916,909		probably benign	Het
Ddi1	A	T	9: 6,266,225	V48D	possibly damaging	Het
Dnah11	A	C	12: 117,916,788	Y3866D	probably damaging	Het
Dnah9	A	G	11: 65,927,963	V3183A	probably damaging	Het
Elmo1	T	A	13: 20,287,884		probably benign	Het
Fap	T	A	2: 62,553,835	Y9F	possibly damaging	Het
Fbxo15	T	A	18: 84,959,106	S93T	possibly damaging	Het
Gal3st2	C	T	1: 93,873,678	R19C	probably damaging	Het
Gm6970	C	A	19: 47,170,855	V94L	possibly damaging	Het
Gmnn	A	T	13: 24,752,071	*207R	probably null	Het
Gucy1a1	A	C	3: 82,106,222	I371S	probably damaging	Het
Igsf10	G	T	3: 59,328,500	S1420*	probably null	Het
Itih5	G	T	2: 10,186,971	V106L	probably benign	Het
Itsn1	T	A	16: 91,812,150	I201K	probably damaging	Het
Kirrel	C	T	3: 87,089,151	M380I	probably null	Het
Lars2	C	T	9: 123,418,279	T283I	probably benign	Het
Loxhd1	T	C	18: 77,404,802	I1313T	probably damaging	Het
Mamdc4	T	A	2: 25,568,223	R368*	probably null	Het
Mdga1	A	T	17: 29,850,629	Y422N	probably damaging	Het
Mro	A	T	18: 73,870,055		probably benign	Het
Mroh2b	T	C	15: 4,951,294		probably null	Het
Nlrp1b	C	A	11: 71,201,259	V14L	probably benign	Het
Nos3	A	G	5: 24,383,840	D1157G	probably damaging	Het
Nrxn2	C	A	19: 6,473,750	R598S	probably damaging	Het
Olfr332	A	T	11: 58,490,609	W49R	possibly damaging	Het
Olfr629	C	A	7: 103,740,410	A277S	possibly damaging	Het
Olfr728	T	C	14: 50,139,833	K269E	probably damaging	Het
Olfr888	A	G	9: 38,109,132	M144V	probably benign	Het
Otog	A	T	7: 46,261,786	D687V	probably damaging	Het
Pcsk5	C	T	19: 17,454,868	C1461Y	probably damaging	Het
Raet1d	A	G	10: 22,362,715	M1V	probably null	Het
Rnf6	A	T	5: 146,211,188	L340*	probably null	Het
Rsl1d1	T	C	16: 11,201,381	T99A	probably damaging	Het
Sbno1	A	T	5: 124,392,067		probably null	Het
Sipa1l1	A	G	12: 82,397,461	Y982C	probably damaging	Het
Sorbs3	G	T	14: 70,191,466	R417S	possibly damaging	Het
Sorl1	A	G	9: 41,974,000	C2102R	probably damaging	Het
Sptbn1	T	A	11: 30,142,245	I494F	possibly damaging	Het
Tank	T	A	2: 61,649,753	V211E	probably damaging	Het
Tbcd	T	A	11: 121,597,294	D840E	probably benign	Het
Tg	T	A	15: 66,692,387	C1146S	possibly damaging	Het
Tiam2	A	T	17: 3,506,834	E110V	probably damaging	Het
Tle4	A	T	19: 14,453,739	W560R	probably damaging	Het
Triml2	G	A	8: 43,183,743	R76H	possibly damaging	Het
Ttn	T	C	2: 76,711,620	E25347G	probably damaging	Het
Ube2e2	A	G	14: 18,586,889	L124P	probably damaging	Het
Vmn2r81	A	G	10: 79,267,431	K153E	probably benign	Het
Wnt16	A	T	6: 22,298,179	Y348F	probably damaging	Het
Xpo6	A	G	7: 126,108,543	V897A	possibly damaging	Het
Zbtb26	T	C	2: 37,436,365	T220A	probably benign	Het
Zik1	A	T	7: 10,490,748	S141T	probably damaging	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
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
R6495:Zkscan3	UTSW	13	21387905	missense	probably damaging	0.97
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
R9008:Zkscan3	UTSW	13	21388213	missense	possibly damaging	0.71
R9048:Zkscan3	UTSW	13	21396516	start codon destroyed	probably null	0.01
R9260:Zkscan3	UTSW	13	21394040	missense	probably damaging	0.98
R9281:Zkscan3	UTSW	13	21394875	missense	possibly damaging	0.96
R9300:Zkscan3	UTSW	13	21393497	missense	unknown
Z1088:Zkscan3	UTSW	13	21388565	missense	possibly damaging	0.53

Predicted Primers

PCR Primer
(F):5'- GGTTGCCTCAGGTTTCCAGCATAG -3'
(R):5'- GGGAAAGCACAACCTTGGACTCAC -3'

Sequencing Primer
(F):5'- GTTTCCAGCATAGACAGACTTTGC -3'
(R):5'- ACCAGATGGAGCTACTGGTC -3'

Posted On

2014-05-09