Mutagenetix > Incidental Mutation

Incidental Mutation 'R5080:Zkscan4'

387093

Institutional Source

Beutler Lab

Gene Symbol

Zkscan4

Ensembl Gene

ENSMUSG00000054931

Gene Name

zinc finger with KRAB and SCAN domains 4

Synonyms

MMRRC Submission

042669-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R5080 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

21663019-21669677 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 21665498 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 158 (T158A)

Ref Sequence

ENSEMBL: ENSMUSP00000054604 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062609] [ENSMUST00000076238] [ENSMUST00000225845]

AlphaFold

Q5SZT6

Predicted Effect

probably benign
Transcript: ENSMUST00000062609
AA Change: T158A

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000054604
Gene: ENSMUSG00000054931
AA Change: T158A

Domain	Start	End	E-Value	Type
SCAN	47	159	9.33e-69	SMART
ZnF_C2H2	253	275	4.11e-2	SMART
ZnF_C2H2	281	303	1.12e-3	SMART
ZnF_C2H2	309	331	6.52e-5	SMART
ZnF_C2H2	337	359	2.57e-3	SMART
ZnF_C2H2	365	387	1.98e-4	SMART
ZnF_C2H2	420	442	1.98e-4	SMART
ZnF_C2H2	448	470	2.09e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000076238

SMART Domains

Protein: ENSMUSP00000075589
Gene: ENSMUSG00000059459

Domain	Start	End	E-Value	Type
low complexity region	1	15	N/A	INTRINSIC
low complexity region	20	43	N/A	INTRINSIC
low complexity region	58	69	N/A	INTRINSIC
low complexity region	79	94	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000225845
AA Change: T129A

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226034

Meta Mutation Damage Score

0.0784

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.4%
20x: 92.5%

Validation Efficiency

96% (54/56)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acod1	G	A	14: 103,286,744 (GRCm39)	G16S	possibly damaging	Het
Adcy4	A	T	14: 56,009,832 (GRCm39)	M740K	probably damaging	Het
Atp1a2	T	C	1: 172,112,012 (GRCm39)		probably benign	Het
Atrn	T	A	2: 130,812,044 (GRCm39)	I663N	possibly damaging	Het
Cacna2d1	T	C	5: 16,567,394 (GRCm39)		probably null	Het
Carf	C	A	1: 60,189,772 (GRCm39)	Q631K	probably damaging	Het
Ces1d	T	C	8: 93,908,175 (GRCm39)	D306G	probably benign	Het
Corin	T	A	5: 72,511,194 (GRCm39)		probably benign	Het
Csf1r	T	C	18: 61,257,373 (GRCm39)	F575L	probably damaging	Het
Dcaf6	T	C	1: 165,247,690 (GRCm39)	D181G	probably damaging	Het
Dnah11	C	T	12: 118,162,565 (GRCm39)	M1I	probably null	Het
Dnah7b	C	T	1: 46,221,540 (GRCm39)	R1215*	probably null	Het
Dpp3	T	A	19: 4,965,108 (GRCm39)	D464V	probably benign	Het
Drosha	C	A	15: 12,842,229 (GRCm39)	A344D	probably benign	Het
Fat3	G	T	9: 15,910,634 (GRCm39)	S1789R	probably benign	Het
Fhip2a	A	T	19: 57,361,713 (GRCm39)	K134I	probably damaging	Het
Frg2f1	T	C	4: 119,388,230 (GRCm39)	T90A	possibly damaging	Het
Frrs1	T	C	3: 116,696,585 (GRCm39)	I544T	probably benign	Het
Gm20939	T	C	17: 95,184,419 (GRCm39)	C356R	probably damaging	Het
Ifi206	T	A	1: 173,301,414 (GRCm39)	I755F	possibly damaging	Het
Kntc1	T	A	5: 123,900,649 (GRCm39)	V249E	possibly damaging	Het
Lama5	A	T	2: 179,848,993 (GRCm39)	L230*	probably null	Het
Lce1e	C	T	3: 92,615,137 (GRCm39)	C70Y	unknown	Het
Ltbp2	T	C	12: 84,850,638 (GRCm39)	N892S	probably damaging	Het
Mfsd4b5	T	A	10: 39,846,570 (GRCm39)	M337L	probably damaging	Het
Noxo1	T	A	17: 24,918,331 (GRCm39)	C164S	probably damaging	Het
Or2y1b	G	T	11: 49,208,914 (GRCm39)	M180I	probably benign	Het
Or5j3	G	A	2: 86,128,258 (GRCm39)	V33M	probably benign	Het
Osbpl6	T	C	2: 76,354,429 (GRCm39)	S15P	probably benign	Het
Pcdh17	A	G	14: 84,770,750 (GRCm39)	Y1076C	probably benign	Het
Pik3c2a	T	A	7: 115,947,509 (GRCm39)	H1391L	probably damaging	Het
Plcg2	A	G	8: 118,316,742 (GRCm39)	Y573C	probably benign	Het
Prpf3	T	A	3: 95,741,109 (GRCm39)	H600L	probably benign	Het
Rilpl2	T	C	5: 124,607,876 (GRCm39)	T115A	probably benign	Het
Rpl15-ps6	A	G	15: 52,341,446 (GRCm39)		noncoding transcript	Het
Serpini1	T	C	3: 75,523,967 (GRCm39)	S192P	probably damaging	Het
Sp110	G	T	1: 85,523,776 (GRCm39)	Y18*	probably null	Het
Stard6	A	T	18: 70,629,293 (GRCm39)	I126F	probably damaging	Het
Strip2	T	A	6: 29,945,592 (GRCm39)	L660H	probably damaging	Het
Tmed3	G	A	9: 89,581,825 (GRCm39)	R213*	probably null	Het
Tns1	G	T	1: 73,992,099 (GRCm39)	P860T	probably damaging	Het
Togaram1	T	C	12: 65,030,177 (GRCm39)	S994P	probably benign	Het
Tomm34	G	A	2: 163,912,816 (GRCm39)		probably benign	Het
Trank1	G	A	9: 111,218,289 (GRCm39)	E1890K	probably damaging	Het
Wasf3	C	T	5: 146,397,907 (GRCm39)	H225Y	probably benign	Het
Wdr37	A	T	13: 8,897,710 (GRCm39)		probably null	Het
Zbtb7c	A	C	18: 76,270,413 (GRCm39)	D167A	probably benign	Het

Other mutations in Zkscan4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01353:Zkscan4	APN	13	21,668,518 (GRCm39)	missense	probably damaging	1.00
IGL01358:Zkscan4	APN	13	21,668,475 (GRCm39)	missense	possibly damaging	0.82
R0107:Zkscan4	UTSW	13	21,668,751 (GRCm39)	missense	possibly damaging	0.62
R0637:Zkscan4	UTSW	13	21,665,477 (GRCm39)	missense	probably damaging	0.99
R0791:Zkscan4	UTSW	13	21,668,081 (GRCm39)	missense	probably benign	0.04
R1252:Zkscan4	UTSW	13	21,668,044 (GRCm39)	missense	probably benign	0.02
R1870:Zkscan4	UTSW	13	21,668,104 (GRCm39)	missense	probably benign	0.00
R4771:Zkscan4	UTSW	13	21,663,416 (GRCm39)	nonsense	probably null
R5987:Zkscan4	UTSW	13	21,668,623 (GRCm39)	missense	probably damaging	1.00
R6238:Zkscan4	UTSW	13	21,668,757 (GRCm39)	missense	possibly damaging	0.53
R6542:Zkscan4	UTSW	13	21,668,508 (GRCm39)	missense	probably damaging	1.00
R6954:Zkscan4	UTSW	13	21,668,535 (GRCm39)	missense	probably damaging	1.00
R7227:Zkscan4	UTSW	13	21,668,413 (GRCm39)	missense	probably benign	0.00
R7418:Zkscan4	UTSW	13	21,668,799 (GRCm39)	missense	probably damaging	1.00
R7462:Zkscan4	UTSW	13	21,668,044 (GRCm39)	missense	probably benign	0.02
R7549:Zkscan4	UTSW	13	21,668,419 (GRCm39)	missense	probably damaging	1.00
R7750:Zkscan4	UTSW	13	21,663,525 (GRCm39)	missense	probably damaging	1.00
R8051:Zkscan4	UTSW	13	21,668,823 (GRCm39)	missense	not run
R8942:Zkscan4	UTSW	13	21,668,680 (GRCm39)	missense	probably benign	0.00
R9040:Zkscan4	UTSW	13	21,668,229 (GRCm39)	missense	probably benign
R9297:Zkscan4	UTSW	13	21,668,201 (GRCm39)	missense	probably benign	0.06
R9304:Zkscan4	UTSW	13	21,665,570 (GRCm39)	missense	possibly damaging	0.75
RF049:Zkscan4	UTSW	13	21,668,881 (GRCm39)	frame shift	probably null
T0722:Zkscan4	UTSW	13	21,663,370 (GRCm39)	small deletion	probably benign
T0975:Zkscan4	UTSW	13	21,663,370 (GRCm39)	small deletion	probably benign
Z1088:Zkscan4	UTSW	13	21,668,067 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACCTTCGTAACGACAGAGGG -3'
(R):5'- TGTGCAAGGCCCTGAATTGG -3'

Sequencing Primer
(F):5'- GTTAATCCACAGGCTGTGCAACTG -3'
(R):5'- CCTGAGATTCGTGCTTGA -3'

Posted On

2016-06-06