Mutagenetix > Incidental Mutation

Incidental Mutation 'R8328:Zscan5b'

644203

Institutional Source

Beutler Lab

Gene Symbol

Zscan5b

Ensembl Gene

ENSMUSG00000058028

Gene Name

zinc finger and SCAN domain containing 5B

Synonyms

Zfp371, Zfg1

MMRRC Submission

067727-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8328 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

6225277-6242416 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 6236946 bp (GRCm39)

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts9	A	T	6: 92,866,993 (GRCm39)	M682K	probably benign	Het
Ankdd1b	T	A	13: 96,591,374 (GRCm39)	I42F	possibly damaging	Het
Ankrd6	C	T	4: 32,810,215 (GRCm39)	E489K	probably benign	Het
Arhgef28	A	T	13: 98,187,517 (GRCm39)	H259Q	possibly damaging	Het
Atosb	T	C	4: 43,034,751 (GRCm39)	T323A	probably benign	Het
C3	T	C	17: 57,527,973 (GRCm39)	S749G	probably benign	Het
Celsr1	A	G	15: 85,806,445 (GRCm39)	S2338P	probably benign	Het
Ces2a	A	T	8: 105,463,998 (GRCm39)	N210I	probably damaging	Het
Cuzd1	A	T	7: 130,913,345 (GRCm39)	V424D	probably damaging	Het
Cyp2j11	T	A	4: 96,236,605 (GRCm39)	H67L	probably benign	Het
Dennd5b	A	G	6: 148,922,115 (GRCm39)	S800P	probably damaging	Het
Dmrta2	G	T	4: 109,837,206 (GRCm39)	L49F	unknown	Het
Dpy19l1	T	A	9: 24,386,686 (GRCm39)	K9*	probably null	Het
Dsc2	T	C	18: 20,165,576 (GRCm39)	H843R	possibly damaging	Het
Dsg1b	T	A	18: 20,510,007 (GRCm39)	F6I	probably benign	Het
Hck	C	T	2: 152,970,987 (GRCm39)	A83V	probably damaging	Het
Hdc	T	C	2: 126,443,803 (GRCm39)	E292G	probably damaging	Het
Ighv1-23	A	G	12: 114,728,116 (GRCm39)	L102P	probably damaging	Het
Kdm3b	G	A	18: 34,926,123 (GRCm39)	V88M	probably damaging	Het
Kremen2	A	G	17: 23,961,745 (GRCm39)	V254A	probably benign	Het
Lrrc8e	T	A	8: 4,285,641 (GRCm39)	I622N	probably damaging	Het
Megf8	A	G	7: 25,046,917 (GRCm39)	N1600S	probably benign	Het
Mical3	A	G	6: 120,912,138 (GRCm39)	I1907T	probably damaging	Het
Nr4a3	T	A	4: 48,051,323 (GRCm39)	Y26N	probably damaging	Het
Nrl	T	C	14: 55,758,163 (GRCm39)	E188G	probably damaging	Het
Or4d1	A	G	11: 87,804,985 (GRCm39)	M249T	possibly damaging	Het
Or9e1	T	A	11: 58,732,460 (GRCm39)	D173E	probably benign	Het
Polr1a	G	A	6: 71,897,718 (GRCm39)	E238K	probably benign	Het
Pramel26	A	G	4: 143,537,380 (GRCm39)	L317P	probably damaging	Het
Prr5	G	C	15: 84,587,387 (GRCm39)	*388S	probably null	Het
Rptor	A	G	11: 119,783,473 (GRCm39)	T1156A	probably benign	Het
Slc9c1	T	A	16: 45,398,227 (GRCm39)	I664K	probably damaging	Het
Stn1	C	A	19: 47,505,498 (GRCm39)	R152L	probably damaging	Het
Syde2	T	C	3: 145,721,496 (GRCm39)	V1121A	probably benign	Het
Vmn1r158	T	C	7: 22,489,487 (GRCm39)	T241A	probably damaging	Het
Vmn1r209	C	A	13: 22,990,643 (GRCm39)	V16L	probably benign	Het
Wdr19	A	G	5: 65,382,638 (GRCm39)	E454G	probably damaging	Het
Zan	C	T	5: 137,392,726 (GRCm39)	E4590K	unknown	Het
Zfp579	T	G	7: 4,997,866 (GRCm39)	H15P	unknown	Het
Zfp628	A	G	7: 4,922,813 (GRCm39)	N345S	probably benign	Het
Zfp944	T	A	17: 22,558,705 (GRCm39)	K181*	probably null	Het

Other mutations in Zscan5b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01511:Zscan5b	APN	7	6,234,421 (GRCm39)	missense	probably benign	0.00
R0505:Zscan5b	UTSW	7	6,242,074 (GRCm39)	missense	probably damaging	0.99
R0535:Zscan5b	UTSW	7	6,236,911 (GRCm39)	missense	possibly damaging	0.72
R1401:Zscan5b	UTSW	7	6,233,425 (GRCm39)	missense	probably damaging	1.00
R1537:Zscan5b	UTSW	7	6,236,850 (GRCm39)	missense	probably benign	0.00
R1613:Zscan5b	UTSW	7	6,233,374 (GRCm39)	missense	probably damaging	1.00
R1820:Zscan5b	UTSW	7	6,242,162 (GRCm39)	missense	probably damaging	1.00
R1833:Zscan5b	UTSW	7	6,241,965 (GRCm39)	missense	possibly damaging	0.67
R2191:Zscan5b	UTSW	7	6,234,442 (GRCm39)	missense	possibly damaging	0.53
R3177:Zscan5b	UTSW	7	6,234,345 (GRCm39)	missense	possibly damaging	0.86
R3277:Zscan5b	UTSW	7	6,234,345 (GRCm39)	missense	possibly damaging	0.86
R4911:Zscan5b	UTSW	7	6,242,189 (GRCm39)	makesense	probably null
R5624:Zscan5b	UTSW	7	6,233,518 (GRCm39)	missense	probably benign	0.00
R8213:Zscan5b	UTSW	7	6,236,946 (GRCm39)	missense	possibly damaging	0.93
R8214:Zscan5b	UTSW	7	6,236,946 (GRCm39)	missense	possibly damaging	0.93
R8326:Zscan5b	UTSW	7	6,236,946 (GRCm39)	missense	possibly damaging	0.93
R8327:Zscan5b	UTSW	7	6,236,946 (GRCm39)	missense	possibly damaging	0.93
R8985:Zscan5b	UTSW	7	6,241,834 (GRCm39)	missense	probably damaging	0.99
R9474:Zscan5b	UTSW	7	6,234,472 (GRCm39)	missense	probably benign	0.00
R9717:Zscan5b	UTSW	7	6,234,525 (GRCm39)	missense	possibly damaging	0.73
X0018:Zscan5b	UTSW	7	6,233,275 (GRCm39)	missense	probably damaging	0.97
X0024:Zscan5b	UTSW	7	6,241,948 (GRCm39)	missense	probably benign	0.00
X0025:Zscan5b	UTSW	7	6,241,614 (GRCm39)	missense	probably benign	0.18
Z1177:Zscan5b	UTSW	7	6,233,216 (GRCm39)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- CCGATCCAGACAGCTTTCTG -3'
(R):5'- GCTGCAATTCGGGTATAAAGTG -3'

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

Posted On

2020-09-02