Mutagenetix > Incidental Mutation

Incidental Mutation 'R0628:Zscan4b'

261971

Institutional Source

Beutler Lab

Gene Symbol

Zscan4b

Ensembl Gene

ENSMUSG00000095339

Gene Name

zinc finger and SCAN domain containing 4B

Synonyms

EG665780

MMRRC Submission

038817-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.108) question?

Stock #

R0628 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

10634667-10638977 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 10635390 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 284 (N284K)

Ref Sequence

ENSEMBL: ENSMUSP00000148157 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000168158] [ENSMUST00000210847]

AlphaFold

E9Q3G0

Predicted Effect

probably damaging
Transcript: ENSMUST00000168158
AA Change: N284K

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000127301
Gene: ENSMUSG00000095339
AA Change: N284K

Domain	Start	End	E-Value	Type
Pfam:SCAN	43	122	1.8e-17	PFAM
low complexity region	181	192	N/A	INTRINSIC
ZnF_C2H2	394	416	2.75e-3	SMART
ZnF_C2H2	423	445	6.57e-1	SMART
ZnF_C2H2	451	473	7.26e-3	SMART
ZnF_C2H2	479	502	3.83e-2	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000210847
AA Change: N284K

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.3%
20x: 94.6%

Validation Efficiency

98% (58/59)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alpk2	A	C	18: 65,440,367 (GRCm39)	V809G	possibly damaging	Het
Bank1	T	A	3: 135,772,151 (GRCm39)	D493V	probably damaging	Het
Camk2d	T	C	3: 126,604,273 (GRCm39)		probably benign	Het
Ccdc17	T	A	4: 116,455,745 (GRCm39)	L292H	probably damaging	Het
Ccdc7b	A	G	8: 129,837,498 (GRCm39)		probably benign	Het
Cd34	C	A	1: 194,641,525 (GRCm39)	T317K	probably damaging	Het
Col6a5	C	G	9: 105,789,649 (GRCm39)		probably null	Het
Colgalt2	G	T	1: 152,384,312 (GRCm39)	A551S	possibly damaging	Het
Copa	T	C	1: 171,918,592 (GRCm39)		probably benign	Het
Coq7	T	C	7: 118,128,867 (GRCm39)	D56G	probably damaging	Het
Dlg4	C	T	11: 69,922,610 (GRCm39)	T201I	probably damaging	Het
Dnah7a	T	A	1: 53,536,264 (GRCm39)	D2593V	probably benign	Het
Ect2l	T	A	10: 18,018,788 (GRCm39)	E536V	probably damaging	Het
Emilin3	A	G	2: 160,752,799 (GRCm39)		probably benign	Het
Eml2	T	C	7: 18,935,479 (GRCm39)		probably benign	Het
Fam135b	C	T	15: 71,320,505 (GRCm39)		probably benign	Het
Fhip2b	T	C	14: 70,825,161 (GRCm39)	T392A	possibly damaging	Het
Gart	C	T	16: 91,430,790 (GRCm39)	R424H	probably benign	Het
Gramd1a	A	G	7: 30,842,049 (GRCm39)	L80P	probably damaging	Het
Herc1	A	G	9: 66,358,163 (GRCm39)	K2415E	probably benign	Het
Ica1	C	T	6: 8,644,256 (GRCm39)		probably benign	Het
Idi2l	T	A	13: 8,990,958 (GRCm39)		probably benign	Het
Iyd	A	T	10: 3,497,127 (GRCm39)	M161L	probably damaging	Het
Kdm5a	T	C	6: 120,392,200 (GRCm39)	L974S	probably damaging	Het
Kif1a	T	C	1: 92,947,605 (GRCm39)	D1619G	probably damaging	Het
Lypd8	C	T	11: 58,275,499 (GRCm39)	T78M	probably damaging	Het
Marchf10	T	A	11: 105,280,986 (GRCm39)	H433L	probably benign	Het
Mbp	A	G	18: 82,572,742 (GRCm39)	Y13C	probably damaging	Het
Mertk	A	T	2: 128,580,233 (GRCm39)	N229I	probably damaging	Het
Msrb2	T	A	2: 19,398,091 (GRCm39)	D116E	probably damaging	Het
Nfix	G	A	8: 85,453,155 (GRCm39)	R300C	probably damaging	Het
Otoa	G	A	7: 120,744,873 (GRCm39)		probably benign	Het
Pclo	A	G	5: 14,719,552 (GRCm39)	T1230A	unknown	Het
Polrmt	T	C	10: 79,574,979 (GRCm39)	T851A	possibly damaging	Het
Prpf6	C	T	2: 181,277,841 (GRCm39)	P401L	probably damaging	Het
Rasgrp4	A	G	7: 28,839,635 (GRCm39)		probably benign	Het
Rc3h2	A	T	2: 37,272,064 (GRCm39)		probably benign	Het
Reps1	A	G	10: 17,996,841 (GRCm39)	T588A	probably damaging	Het
Rtel1	A	C	2: 180,993,674 (GRCm39)	S782R	probably benign	Het
Sacm1l	A	G	9: 123,378,060 (GRCm39)		probably benign	Het
Skic3	G	C	13: 76,298,848 (GRCm39)	V1185L	possibly damaging	Het
Skint5	A	T	4: 113,588,266 (GRCm39)	L728*	probably null	Het
Slc9b2	T	A	3: 135,029,536 (GRCm39)		probably benign	Het
Snapc3	A	T	4: 83,368,397 (GRCm39)	H298L	probably benign	Het
Tex9	A	T	9: 72,399,233 (GRCm39)	M1K	probably null	Het
Trappc13	C	T	13: 104,291,424 (GRCm39)		probably benign	Het
Usp3	C	T	9: 66,425,726 (GRCm39)	R467H	probably benign	Het
Vmn2r11	T	A	5: 109,195,597 (GRCm39)	L576F	possibly damaging	Het
Wnk4	T	C	11: 101,165,849 (GRCm39)	F792S	probably benign	Het
Zfp1007	T	C	5: 109,826,442 (GRCm39)		probably null	Het
Zfp280d	T	C	9: 72,269,230 (GRCm39)	V764A	probably benign	Het
Zfp69	G	A	4: 120,806,622 (GRCm39)	Q4*	probably null	Het
Zfp692	T	G	11: 58,200,449 (GRCm39)	L206R	probably damaging	Het
Zic2	CCCACCACCACCATCACCACCACCACC	CCCACCATCACCACCACCACC	14: 122,713,776 (GRCm39)		probably benign	Het
Zic4	T	A	9: 91,266,170 (GRCm39)	Y264*	probably null	Het
Zic4	T	A	9: 91,266,172 (GRCm39)	M272K	probably benign	Het

Other mutations in Zscan4b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
PIT4696001:Zscan4b	UTSW	7	10,635,949 (GRCm39)	missense	possibly damaging	0.77
R2289:Zscan4b	UTSW	7	10,635,789 (GRCm39)	critical splice donor site	probably null
R3713:Zscan4b	UTSW	7	10,635,818 (GRCm39)	missense	probably benign	0.01
R6129:Zscan4b	UTSW	7	10,635,815 (GRCm39)	missense	probably benign	0.01
R6393:Zscan4b	UTSW	7	10,634,828 (GRCm39)	missense	possibly damaging	0.76
R7057:Zscan4b	UTSW	7	10,635,636 (GRCm39)	nonsense	probably null
R7312:Zscan4b	UTSW	7	10,634,867 (GRCm39)	missense	probably benign	0.00
R7383:Zscan4b	UTSW	7	10,637,960 (GRCm39)	missense	possibly damaging	0.92
R7412:Zscan4b	UTSW	7	10,635,820 (GRCm39)	missense	probably benign	0.03
R7412:Zscan4b	UTSW	7	10,634,791 (GRCm39)	missense	probably damaging	1.00
R7449:Zscan4b	UTSW	7	10,637,985 (GRCm39)	missense	possibly damaging	0.95
R9034:Zscan4b	UTSW	7	10,634,840 (GRCm39)	missense	probably benign
R9309:Zscan4b	UTSW	7	10,635,856 (GRCm39)	missense	possibly damaging	0.89
R9311:Zscan4b	UTSW	7	10,635,950 (GRCm39)	missense	probably damaging	0.97
Z1177:Zscan4b	UTSW	7	10,635,664 (GRCm39)	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- AGAGATAGGCTGCTCTTGCCTAGAC -3'
(R):5'- GCAACACCTCTTGCAATGCTACTG -3'

Sequencing Primer
(F):5'- TGCCTAGACTGCAACCCTG -3'
(R):5'- TGGAAATGAAAAGGACTCCCTTC -3'

Posted On

2015-02-04