Mutagenetix > Incidental Mutation

Incidental Mutation 'R2191:Zscan5b'

238101

Institutional Source

Beutler Lab

Gene Symbol

Zscan5b

Ensembl Gene

ENSMUSG00000058028

Gene Name

zinc finger and SCAN domain containing 5B

Synonyms

Zfg1, Zfp371

MMRRC Submission

040193-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2191 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

6222278-6239423 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 6231443 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 156 (H156R)

Ref Sequence

ENSEMBL: ENSMUSP00000126044 (fasta)

Gene Model

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

AlphaFold

B2RTN3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000072662
AA Change: H156R

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000072449
Gene: ENSMUSG00000058028
AA Change: H156R

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: H156R

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000126044
Gene: ENSMUSG00000058028
AA Change: H156R

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

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.7%
20x: 96.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	A	G	6: 23,078,866	S716P	possibly damaging	Het
Abcb5	A	C	12: 118,867,956	N1220K	probably damaging	Het
Acsl3	A	T	1: 78,699,140	E479D	probably damaging	Het
Actn1	A	T	12: 80,171,802	L736*	probably null	Het
Adcyap1	A	G	17: 93,200,026	S5G	possibly damaging	Het
Adgrv1	T	C	13: 81,566,290	N958S	possibly damaging	Het
Armc1	T	A	3: 19,134,061	N274Y	probably damaging	Het
Atp9b	G	A	18: 80,753,051	R926W	probably damaging	Het
Cacna1e	G	T	1: 154,443,845	Q1370K	probably damaging	Het
Ccdc129	A	T	6: 55,967,719	Q475L	probably benign	Het
Cdip1	C	T	16: 4,770,063	S12N	probably benign	Het
Chrna3	T	A	9: 55,016,045	I160F	probably damaging	Het
Cnot1	A	G	8: 95,761,426	I534T	probably damaging	Het
Cr2	T	A	1: 195,163,381	I465F	possibly damaging	Het
Daw1	A	G	1: 83,192,663	D232G	probably benign	Het
Dcaf6	T	C	1: 165,422,864	T144A	probably benign	Het
Dhx30	A	T	9: 110,086,118		probably null	Het
Dnah7a	A	G	1: 53,605,875	S1001P	possibly damaging	Het
Dnajb9	T	C	12: 44,207,073	T184A	probably benign	Het
Dsg1b	T	C	18: 20,409,618	*1061Q	probably null	Het
Dvl1	G	A	4: 155,847,816	V28I	possibly damaging	Het
Edem3	T	A	1: 151,796,883	V450D	probably damaging	Het
Ephb6	G	T	6: 41,616,085	R419L	possibly damaging	Het
Fbxo10	G	C	4: 45,044,811	P608R	probably damaging	Het
Flrt1	A	G	19: 7,095,829	I451T	probably damaging	Het
Gm6309	A	T	5: 146,168,871	V161E	possibly damaging	Het
Gm884	A	C	11: 103,618,967		probably benign	Het
Heatr5b	A	G	17: 78,773,677	L1382P	probably damaging	Het
Igsf1	C	A	X: 49,783,150	L714F	probably damaging	Het
Inpp4b	C	T	8: 81,997,302	P488S	probably damaging	Het
Ints6l	T	A	X: 56,504,750	H678Q	probably benign	Het
Kdm2a	A	T	19: 4,356,931		probably null	Het
Khdrbs3	G	T	15: 69,092,960	V249F	probably damaging	Het
Kmt2d	A	T	15: 98,861,049		probably null	Het
Laptm4a	T	C	12: 8,922,296		probably null	Het
Lrp2bp	C	T	8: 46,013,169	T105I	probably benign	Het
Lsmem1	GTACATACATACATACATACATACATACA	GTACATACATACATACATACATACATACATACA	12: 40,185,261		probably null	Het
Mtmr3	A	T	11: 4,499,032	W244R	probably damaging	Het
Myo18a	A	G	11: 77,818,615	D138G	probably damaging	Het
Nlrp9b	A	T	7: 20,023,662	I275L	probably benign	Het
Nol6	C	T	4: 41,118,720	R719H	probably benign	Het
Olfr191	A	T	16: 59,085,675	D269E	probably benign	Het
Olfr441	T	C	6: 43,116,065	S108P	probably benign	Het
Olfr937	A	T	9: 39,060,405	I87K	probably benign	Het
Omt2b	G	A	9: 78,328,175		probably benign	Het
Pclo	C	T	5: 14,713,848	L4112F	unknown	Het
Pglyrp2	T	C	17: 32,415,957	N477S	probably benign	Het
Phf20	T	C	2: 156,276,654	V426A	probably benign	Het
Pla2g4e	CTT	CTTT	2: 120,191,199		probably null	Het
Plagl1	A	C	10: 13,128,941		probably benign	Het
Ppip5k2	A	G	1: 97,744,110	V479A	probably damaging	Het
Prkdc	A	C	16: 15,698,824	T1021P	probably damaging	Het
Rdh7	C	T	10: 127,888,598	V6I	probably benign	Het
Rictor	A	T	15: 6,759,614	H237L	probably benign	Het
Rsf1	GCG	GCGACGGCGACG	7: 97,579,907		probably benign	Het
Rttn	T	C	18: 89,095,648		probably null	Het
Setd5	C	T	6: 113,111,429	Q173*	probably null	Het
Sipa1l1	T	A	12: 82,396,691	Y918*	probably null	Het
Slc13a1	T	G	6: 24,134,397	E162D	possibly damaging	Het
Slc39a9	G	A	12: 80,662,527	A52T	probably damaging	Het
Srebf1	T	C	11: 60,220,539	D2G	probably damaging	Het
Stab1	A	T	14: 31,142,800	M66K	probably benign	Het
Stab1	T	C	14: 31,159,270	N601S	probably damaging	Het
Sv2b	C	T	7: 75,124,088	G545D	probably damaging	Het
Syt5	G	A	7: 4,543,089	Q101*	probably null	Het
Thada	A	G	17: 84,446,521	F341L	probably benign	Het
Tln2	T	G	9: 67,355,221	I585L	probably damaging	Het
Tmem67	C	G	4: 12,069,413		probably null	Het
Tonsl	G	T	15: 76,632,680	L917M	probably damaging	Het
Ttk	A	G	9: 83,862,183	K519E	probably damaging	Het
Ttn	T	C	2: 76,707,134	T34817A	probably benign	Het
Ubr1	A	T	2: 120,926,047	S700T	probably damaging	Het
Unc13b	C	A	4: 43,245,566	C1312*	probably null	Het
Usp36	A	G	11: 118,285,023	L104P	possibly damaging	Het
Vmn1r216	T	C	13: 23,099,233	F29L	probably benign	Het
Vmn1r225	T	C	17: 20,502,885	I196T	probably damaging	Het
Vmn1r50	T	C	6: 90,108,139	F289L	probably benign	Het
Ythdf3	T	C	3: 16,203,211		probably benign	Het
Zfp507	T	A	7: 35,794,843	K258N	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
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
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'- GCTGGGAAAACTATATCCAGGC -3'
(R):5'- CACAGCAATGTCTAAGCATGGG -3'

Sequencing Primer
(F):5'- ACTATATCCAGGCTCTTACATGGGG -3'
(R):5'- ATATACATCTATGGTCAGTGTGGCC -3'

Posted On

2014-10-02