Mutagenetix > Incidental Mutation

Incidental Mutation 'R8214:Zscan5b'

636306

Institutional Source

Beutler Lab

Gene Symbol

Zscan5b

Ensembl Gene

ENSMUSG00000058028

Gene Name

zinc finger and SCAN domain containing 5B

Synonyms

Zfg1, Zfp371

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8214 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

6222278-6239423 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 6233947 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 232 (P232S)

Ref Sequence

ENSEMBL: ENSMUSP00000072449 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072662] [ENSMUST00000155314] [ENSMUST00000165445]

AlphaFold

B2RTN3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000072662
AA Change: P232S

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000072449
Gene: ENSMUSG00000058028
AA Change: P232S

Domain	Start	End	E-Value	Type
Pfam:SCAN	31	121	1.6e-25	PFAM
low complexity region	157	166	N/A	INTRINSIC
low complexity region	178	189	N/A	INTRINSIC
low complexity region	302	314	N/A	INTRINSIC
ZnF_C2H2	326	348	3.11e-2	SMART
ZnF_C2H2	354	376	1.28e-3	SMART
ZnF_C2H2	382	404	1.36e-2	SMART
ZnF_C2H2	410	432	3.16e-3	SMART
ZnF_C2H2	438	460	1.06e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000155314

SMART Domains

Protein: ENSMUSP00000118508
Gene: ENSMUSG00000058028

Domain	Start	End	E-Value	Type
Pfam:SCAN	31	121	4.1e-26	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000165445
AA Change: P232S

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000126044
Gene: ENSMUSG00000058028
AA Change: P232S

Domain	Start	End	E-Value	Type
Pfam:SCAN	33	120	1e-25	PFAM
low complexity region	157	166	N/A	INTRINSIC
low complexity region	178	189	N/A	INTRINSIC
low complexity region	302	314	N/A	INTRINSIC
ZnF_C2H2	326	348	3.11e-2	SMART
ZnF_C2H2	354	376	1.28e-3	SMART
ZnF_C2H2	382	404	1.36e-2	SMART
ZnF_C2H2	410	432	3.16e-3	SMART
ZnF_C2H2	438	460	1.06e-4	SMART

Meta Mutation Damage Score

0.1712

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (42/42)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930438A08Rik	G	A	11: 58,286,621	R52Q		Het
Abcc3	C	T	11: 94,363,518	R718H	probably damaging	Het
Abcc4	T	C	14: 118,500,841	M1166V	probably benign	Het
Abhd16b	C	T	2: 181,494,190	T295I	probably damaging	Het
Amph	A	G	13: 19,104,298	N319S	possibly damaging	Het
Ankrd27	A	G	7: 35,614,519	D425G	probably damaging	Het
Atg4b	T	C	1: 93,784,887	S316P	probably damaging	Het
Brd4	A	G	17: 32,212,947	S649P	probably benign	Het
Bzw1	T	C	1: 58,405,037	S411P	probably damaging	Het
Dnah6	T	C	6: 73,044,728	D3537G	probably damaging	Het
Dnpep	A	T	1: 75,315,998	W126R	probably damaging	Het
Efcab2	T	C	1: 178,437,450	V27A	probably benign	Het
Kctd21	T	C	7: 97,347,341	L7P	probably damaging	Het
Kidins220	C	T	12: 24,994,855	T216I	probably damaging	Het
Lpl	T	A	8: 68,892,605	M87K	probably damaging	Het
Lrrc16a	T	C	13: 24,044,232	E987G	probably damaging	Het
Ltn1	A	G	16: 87,380,803	V1646A	probably benign	Het
Madcam1	A	G	10: 79,666,758	T359A	probably benign	Het
Muc5ac	A	G	7: 141,802,948	K1092E	possibly damaging	Het
Nrg2	T	C	18: 36,196,676	E162G	probably benign	Het
Olfr1333	A	T	4: 118,830,091	F117L	probably benign	Het
Olfr474	T	A	7: 107,954,967	S109T	probably benign	Het
Olfr589	A	C	7: 103,155,406	S114A	probably damaging	Het
Pcdhb5	G	T	18: 37,321,583	V339L	probably benign	Het
Plec	A	G	15: 76,192,284	W145R	unknown	Het
Polr3f	A	G	2: 144,536,310	N201D	probably benign	Het
Skint5	T	C	4: 113,804,942		probably null	Het
Slc12a2	A	G	18: 57,937,719	I1048V	probably benign	Het
Sult2a4	A	G	7: 13,989,476	I39T	probably benign	Het
Tenm4	T	C	7: 96,895,407	V2247A	probably damaging	Het
Tg	C	T	15: 66,773,398	R2385C	probably damaging	Het
Tomm70a	G	T	16: 57,121,967	A36S	unknown	Het
Top2b	G	A	14: 16,383,177	R55H	probably damaging	Het
Unc45b	A	G	11: 82,933,888	I629M	possibly damaging	Het
Vmn1r16	T	C	6: 57,323,439	E66G	noncoding transcript	Het
Vmn1r189	C	T	13: 22,102,131	V179I	probably benign	Het
Vmn2r105	T	G	17: 20,228,513	E134A	probably benign	Het
Wdr70	G	A	15: 7,887,370	A522V	probably benign	Het
Zcchc11	A	G	4: 108,512,150	I636V	probably benign	Het
Zfp184	T	A	13: 21,958,825	C234S	probably damaging	Het

Other mutations in Zscan5b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01511:Zscan5b	APN	7	6231422	missense	probably benign	0.00
R0505:Zscan5b	UTSW	7	6239075	missense	probably damaging	0.99
R0535:Zscan5b	UTSW	7	6233912	missense	possibly damaging	0.72
R1401:Zscan5b	UTSW	7	6230426	missense	probably damaging	1.00
R1537:Zscan5b	UTSW	7	6233851	missense	probably benign	0.00
R1613:Zscan5b	UTSW	7	6230375	missense	probably damaging	1.00
R1820:Zscan5b	UTSW	7	6239163	missense	probably damaging	1.00
R1833:Zscan5b	UTSW	7	6238966	missense	possibly damaging	0.67
R2191:Zscan5b	UTSW	7	6231443	missense	possibly damaging	0.53
R3177:Zscan5b	UTSW	7	6231346	missense	possibly damaging	0.86
R3277:Zscan5b	UTSW	7	6231346	missense	possibly damaging	0.86
R4911:Zscan5b	UTSW	7	6239190	makesense	probably null
R5624:Zscan5b	UTSW	7	6230519	missense	probably benign	0.00
R8213:Zscan5b	UTSW	7	6233947	missense	possibly damaging	0.93
R8326:Zscan5b	UTSW	7	6233947	missense	possibly damaging	0.93
R8327:Zscan5b	UTSW	7	6233947	missense	possibly damaging	0.93
R8328:Zscan5b	UTSW	7	6233947	missense	possibly damaging	0.93
R8985:Zscan5b	UTSW	7	6238835	missense	probably damaging	0.99
R9474:Zscan5b	UTSW	7	6231473	missense	probably benign	0.00
R9717:Zscan5b	UTSW	7	6231526	missense	possibly damaging	0.73
X0018:Zscan5b	UTSW	7	6230276	missense	probably damaging	0.97
X0024:Zscan5b	UTSW	7	6238949	missense	probably benign	0.00
X0025:Zscan5b	UTSW	7	6238615	missense	probably benign	0.18
Z1177:Zscan5b	UTSW	7	6230217	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- AAAGTGAGTGTAGTGCGCCG -3'
(R):5'- CTGCAATTCGGGTATAAAGTGAAC -3'

Sequencing Primer
(F):5'- GCCGATCCAGACAGCTTTCTG -3'
(R):5'- TCAACTCTGGTGTTGGCT -3'

Posted On

2020-07-13