Mutagenetix > Incidental Mutation

Incidental Mutation 'R3277:Zscan5b'

258260

Institutional Source

Beutler Lab

Gene Symbol

Zscan5b

Ensembl Gene

ENSMUSG00000058028

Gene Name

zinc finger and SCAN domain containing 5B

Synonyms

Zfg1, Zfp371

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3277 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

6222278-6239423 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 6231346 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 124 (Y124N)

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: Y124N

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000072449
Gene: ENSMUSG00000058028
AA Change: Y124N

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
AA Change: Y124N

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000118508
Gene: ENSMUSG00000058028
AA Change: Y124N

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000165445
AA Change: Y124N

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000126044
Gene: ENSMUSG00000058028
AA Change: Y124N

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: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	T	C	2: 151,472,100	R553G	possibly damaging	Het
Adarb2	A	G	13: 8,752,627	N646S	probably damaging	Het
Adcy8	C	T	15: 64,699,159	G1242S	probably benign	Het
Ano9	T	A	7: 141,104,124	T543S	probably damaging	Het
Btnl10	A	G	11: 58,922,390	K282E	probably benign	Het
Btnl9	T	C	11: 49,169,676	D330G	probably damaging	Het
Ccdc178	G	T	18: 22,067,652	A416E	possibly damaging	Het
Cdx2	A	T	5: 147,303,192	S225T	probably benign	Het
Clca4b	T	C	3: 144,911,359	I843M	probably benign	Het
Cntn4	G	A	6: 106,437,964		probably null	Het
Cyp4f18	T	C	8: 71,993,200	D317G	possibly damaging	Het
Dennd4a	G	T	9: 64,888,993	R767L	probably damaging	Het
Dgkb	G	A	12: 38,084,217	V41M	probably damaging	Het
Duox1	T	C	2: 122,340,116	Y1206H	probably damaging	Het
Dync1i1	T	C	6: 5,972,211		probably null	Het
Fbxw2	T	C	2: 34,822,750	T100A	probably benign	Het
Fcgbp	C	A	7: 28,091,661	H782Q	probably damaging	Het
Flg2	A	T	3: 93,214,888	Q1455L	unknown	Het
Frrs1	T	C	3: 116,899,224	F49S	probably damaging	Het
Gli3	A	T	13: 15,725,982	Q1318L	probably benign	Het
Gm5592	A	G	7: 41,288,380	E362G	probably benign	Het
Gm7104	A	T	12: 88,285,728		noncoding transcript	Het
Gpatch2l	A	G	12: 86,244,315	T91A	possibly damaging	Het
Hacd4	T	C	4: 88,437,510	H46R	probably damaging	Het
Herc2	T	C	7: 56,153,428	V2175A	probably benign	Het
Hey1	T	C	3: 8,664,891	S169G	probably benign	Het
Hivep2	C	A	10: 14,128,969	T437K	probably benign	Het
Hlf	T	C	11: 90,345,835	K199E	probably damaging	Het
Hpgd	C	A	8: 56,298,413	A92E	probably damaging	Het
Hsp90aa1	C	A	12: 110,695,681		probably null	Het
Hsp90aa1	T	A	12: 110,695,680	M1L	possibly damaging	Het
Itgad	C	A	7: 128,190,981	H651N	possibly damaging	Het
Itgav	A	G	2: 83,776,542	D409G	probably damaging	Het
Kif2a	A	G	13: 106,976,756	I455T	probably damaging	Het
Klk14	G	A	7: 43,692,077	C51Y	probably damaging	Het
Lamc3	G	T	2: 31,908,625	G448C	probably damaging	Het
Ltbp1	G	A	17: 75,276,480	G425D	possibly damaging	Het
Ltbp1	T	A	17: 75,359,278		probably null	Het
Mag	C	T	7: 30,901,648		probably null	Het
Mdh1b	G	A	1: 63,711,531	T426M	possibly damaging	Het
Nr1h4	G	A	10: 89,478,788	T282I	possibly damaging	Het
Nsf	C	T	11: 103,930,752	E26K	possibly damaging	Het
Olfr1231	C	T	2: 89,303,218	V125M	possibly damaging	Het
Olfr1412	A	G	1: 92,588,813	N161S	probably benign	Het
Olfr552	T	C	7: 102,604,576	V74A	possibly damaging	Het
Padi6	A	G	4: 140,735,389	L307P	probably damaging	Het
Parp9	T	C	16: 35,948,208	S20P	probably damaging	Het
Pdcd11	T	C	19: 47,113,264	F963L	probably damaging	Het
Pwp1	C	T	10: 85,882,079	L294F	probably benign	Het
Radil	A	G	5: 142,506,856	L339P	probably damaging	Het
Raver1	G	A	9: 21,079,277	P316S	possibly damaging	Het
Rell1	A	G	5: 63,926,987		probably null	Het
Rxrg	A	G	1: 167,635,700	D257G	possibly damaging	Het
Sema4c	C	T	1: 36,549,879	R722H	possibly damaging	Het
Sgk1	C	T	10: 21,996,601	R171W	probably damaging	Het
Spata7	A	G	12: 98,637,598	N75D	possibly damaging	Het
Ttc23l	A	G	15: 10,547,232	F99L	possibly damaging	Het
Unc13a	A	C	8: 71,629,695	C1642G	probably benign	Het
Usp36	C	T	11: 118,276,759		probably null	Het
Wrn	A	G	8: 33,317,554	M292T	probably damaging	Het
Zfp423	A	G	8: 87,782,331	Y462H	probably damaging	Het
Zswim9	T	C	7: 13,277,270	T51A	possibly 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
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'- AGCACACAAACTCTGGGGTG -3'
(R):5'- TCTTCGGTCTCAGAGAGGTTC -3'

Sequencing Primer
(F):5'- CCAGACTCCGTTTATTGAGACAGG -3'
(R):5'- AGGTTCTGTAGCTCCCGG -3'

Posted On

2015-01-23