Mutagenetix > Incidental Mutation

Incidental Mutation 'R8327:Zscan5b'

644153

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 #

R8327 (G1)

Quality Score

225.009

Status

Not 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: 99.6%
20x: 98.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011H14Rik	C	T	14: 49,232,899	G197S	possibly damaging	Het
2900026A02Rik	T	A	5: 113,183,819	D843V	possibly damaging	Het
6330409D20Rik	T	A	2: 32,737,611	Q111L	unknown	Het
Abcc5	C	A	16: 20,422,318	R39L	probably benign	Het
Acbd3	C	A	1: 180,738,593	Q284K	probably damaging	Het
Adgrv1	C	T	13: 81,445,343	R4175H	probably damaging	Het
Ankrd27	T	C	7: 35,601,560	L95P	probably damaging	Het
Apc2	T	G	10: 80,301,930	D68E	probably damaging	Het
Apob	A	T	12: 8,001,015	I1093F	possibly damaging	Het
Arid2	T	A	15: 96,362,604	D411E	probably damaging	Het
Astn1	T	A	1: 158,609,280	Y811N	probably damaging	Het
Ccdc187	T	C	2: 26,280,618	H616R	probably benign	Het
Clca4b	T	C	3: 144,922,001	Y403C	possibly damaging	Het
Dagla	C	T	19: 10,251,087	V656I	probably benign	Het
Dguok	A	C	6: 83,487,079	W166G	probably damaging	Het
Dlg5	G	A	14: 24,146,320	A1603V	probably damaging	Het
Fam26e	A	C	10: 34,096,068	F124V	probably damaging	Het
Fanca	G	A	8: 123,313,245	Q138*	probably null	Het
Fbxl19	T	A	7: 127,748,348	C25*	probably null	Het
Gm340	C	T	19: 41,582,557	S63L	probably damaging	Het
Gm49383	C	A	12: 69,196,869	E79*	probably null	Het
Lrp2	T	C	2: 69,491,924	Y1887C	probably damaging	Het
Mast3	T	C	8: 70,779,418	D1305G	probably damaging	Het
Mreg	C	A	1: 72,164,098	R107L	possibly damaging	Het
Nbn	T	A	4: 15,981,470	S521T	probably benign	Het
Nxpe2	C	A	9: 48,319,759	V437L	probably benign	Het
Olfr331	T	C	11: 58,502,116	M153V	probably benign	Het
Olfr571	A	T	7: 102,909,719	I40N	probably damaging	Het
Olfr891	T	C	9: 38,179,890	E311G	possibly damaging	Het
Pcdhb5	A	C	18: 37,320,900	K111T	probably benign	Het
Pi4kb	A	G	3: 94,998,881	I580V	probably benign	Het
Pla2g16	T	C	19: 7,579,149	L105P	probably benign	Het
Rbm15b	A	G	9: 106,884,447	S841P	probably benign	Het
Reep2	A	G	18: 34,842,513	N31S	probably damaging	Het
Scmh1	C	T	4: 120,522,502	H505Y	probably benign	Het
Setd1a	T	A	7: 127,791,497	L1115H	unknown	Het
Slc26a3	A	G	12: 31,466,431	D596G	possibly damaging	Het
Smg5	G	T	3: 88,345,407	A167S	probably damaging	Het
Supv3l1	T	C	10: 62,441,225	T255A	probably damaging	Het
Synrg	G	A	11: 84,008,905	A568T	probably benign	Het
Tmem132a	G	T	19: 10,858,947	P740T	probably benign	Het
Tmem181a	T	C	17: 6,301,405	L353P	probably damaging	Het
Tubgcp3	T	C	8: 12,654,343	E242G	probably benign	Het
Vmn2r77	A	T	7: 86,801,472	T189S	probably benign	Het
Zfp638	T	G	6: 83,928,697	L44W	probably damaging	Het
Zfp715	G	A	7: 43,298,058	T826I	possibly damaging	Het
Zfp865	G	A	7: 5,031,059	S681N	probably benign	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
R8214:Zscan5b	UTSW	7	6233947	missense	possibly damaging	0.93
R8326: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'- TCCATCTCTCCGTGGAACAAAC -3'
(R):5'- CTGCAATTCGGGTATAAAGTGAAC -3'

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

Posted On

2020-09-02