Mutagenetix > Incidental Mutation

Incidental Mutation 'R8985:Zscan5b'

683957

Institutional Source

Beutler Lab

Gene Symbol

Zscan5b

Ensembl Gene

ENSMUSG00000058028

Gene Name

zinc finger and SCAN domain containing 5B

Synonyms

Zfp371, Zfg1

MMRRC Submission

068818-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8985 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

6225277-6242416 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 6241834 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 351 (E351G)

Ref Sequence

ENSEMBL: ENSMUSP00000072449 (fasta)

Gene Model

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

AlphaFold

B2RTN3

Predicted Effect

probably damaging
Transcript: ENSMUST00000072662
AA Change: E351G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000072449
Gene: ENSMUSG00000058028
AA Change: E351G

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 damaging
Transcript: ENSMUST00000165445
AA Change: E351G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000126044
Gene: ENSMUSG00000058028
AA Change: E351G

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: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

100% (74/74)

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad9	T	A	3: 36,141,860 (GRCm39)		probably benign	Het
Agbl1	C	A	7: 75,969,904 (GRCm39)	S53R		Het
Ahr	T	C	12: 35,576,736 (GRCm39)	K65R	possibly damaging	Het
AI429214	A	T	8: 37,460,820 (GRCm39)		probably benign	Het
Ankrd52	T	C	10: 128,222,978 (GRCm39)	S643P	probably damaging	Het
Asz1	T	C	6: 18,051,336 (GRCm39)	T448A	probably benign	Het
Atp10a	A	G	7: 58,438,092 (GRCm39)	I425V	probably benign	Het
Casd1	T	A	6: 4,624,399 (GRCm39)	Y397*	probably null	Het
Ccdc162	A	G	10: 41,432,102 (GRCm39)	I1797T	probably damaging	Het
Cdc20b	A	T	13: 113,196,330 (GRCm39)	R152*	probably null	Het
Cdc25b	T	C	2: 131,035,180 (GRCm39)	C313R	probably damaging	Het
Cfap73	T	A	5: 120,768,123 (GRCm39)	T212S	probably benign	Het
Chd9	G	T	8: 91,721,101 (GRCm39)	R963L	unknown	Het
Clip4	G	T	17: 72,113,527 (GRCm39)	V226F	probably damaging	Het
Cmya5	A	G	13: 93,233,664 (GRCm39)	S475P	possibly damaging	Het
Cntn5	A	G	9: 10,171,960 (GRCm39)	Y75H	possibly damaging	Het
Crtc1	T	G	8: 70,855,092 (GRCm39)	H176P	probably damaging	Het
Cspg5	T	C	9: 110,085,502 (GRCm39)	W558R	unknown	Het
Cyp2c39	A	G	19: 39,552,419 (GRCm39)	T371A	probably benign	Het
Dcaf8	G	A	1: 172,000,199 (GRCm39)	R119H	probably benign	Het
Drosha	G	T	15: 12,924,187 (GRCm39)	A1190S	possibly damaging	Het
Dst	T	C	1: 34,288,886 (GRCm39)	V5655A	probably benign	Het
Etnk1	C	G	6: 143,140,953 (GRCm39)		probably benign	Het
Flnc	T	A	6: 29,440,499 (GRCm39)	V269D	probably benign	Het
Foxs1	T	A	2: 152,775,058 (GRCm39)		probably benign	Het
Ftsj3	T	C	11: 106,141,595 (GRCm39)	Y551C	possibly damaging	Het
Fzd6	A	T	15: 38,895,019 (GRCm39)	H395L	probably damaging	Het
Grm6	C	T	11: 50,746,537 (GRCm39)	A289V	possibly damaging	Het
Hook1	A	G	4: 95,910,468 (GRCm39)	D694G	probably benign	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Igha	T	C	12: 113,222,611 (GRCm39)	E270G		Het
Itga2b	C	A	11: 102,356,288 (GRCm39)		probably benign	Het
Jade1	A	C	3: 41,568,148 (GRCm39)	S739R	probably benign	Het
Lpin3	T	C	2: 160,738,674 (GRCm39)	S209P	probably benign	Het
Ly6i	A	C	15: 74,851,806 (GRCm39)	L121R	probably damaging	Het
Ms4a1	C	T	19: 11,232,055 (GRCm39)	V107I	probably benign	Het
Mycbpap	T	A	11: 94,404,722 (GRCm39)	T74S	probably benign	Het
Nlrp14	A	G	7: 106,796,436 (GRCm39)	N921D	probably benign	Het
Nmur1	C	T	1: 86,314,103 (GRCm39)	E388K	probably benign	Het
Nol4	T	C	18: 23,085,294 (GRCm39)	Y40C	probably damaging	Het
Or1e1c	T	C	11: 73,266,252 (GRCm39)	S229P	possibly damaging	Het
Or51k1	A	T	7: 103,661,367 (GRCm39)	C181S	probably damaging	Het
Or8b51	A	T	9: 38,569,621 (GRCm39)	Y22*	probably null	Het
Pawr	G	A	10: 108,247,861 (GRCm39)	V283M	possibly damaging	Het
Pde6b	T	C	5: 108,578,503 (GRCm39)	Y814H	probably benign	Het
Pds5b	T	A	5: 150,724,239 (GRCm39)	L1272H	probably benign	Het
Pkd1l2	T	C	8: 117,764,849 (GRCm39)	T1350A	probably benign	Het
Plcz1	T	A	6: 139,961,903 (GRCm39)	Q216L	possibly damaging	Het
Prodh	A	T	16: 17,890,362 (GRCm39)	C522S	probably null	Het
Rasef	G	T	4: 73,708,960 (GRCm39)	P91Q	possibly damaging	Het
Rgs14	G	A	13: 55,531,234 (GRCm39)		probably benign	Het
Rnase6	A	T	14: 51,367,632 (GRCm39)	Y8F	unknown	Het
Rnf216	T	A	5: 143,076,180 (GRCm39)	T235S	probably benign	Het
Slco2a1	G	A	9: 102,949,834 (GRCm39)		probably null	Het
Smoc1	A	G	12: 81,226,261 (GRCm39)	E362G	probably damaging	Het
Sncaip	T	C	18: 53,002,169 (GRCm39)	L230P	probably benign	Het
Tdrd3	A	G	14: 87,743,597 (GRCm39)	E515G	possibly damaging	Het
Tipin	T	A	9: 64,195,385 (GRCm39)		probably null	Het
Tmem9	T	A	1: 135,955,145 (GRCm39)	V93D	possibly damaging	Het
Tpm3-rs7	A	C	14: 113,552,756 (GRCm39)	I217L	probably benign	Het
Ttc41	A	T	10: 86,566,956 (GRCm39)	I541F	possibly damaging	Het
Uck2	T	C	1: 167,070,681 (GRCm39)	D16G	probably benign	Het
Vmn1r50	A	G	6: 90,085,017 (GRCm39)	D254G	probably benign	Het
Vmn2r50	A	C	7: 9,779,974 (GRCm39)	F469C	probably damaging	Het
Vmn2r57	A	G	7: 41,049,259 (GRCm39)	V830A	probably benign	Het
Wwc2	T	A	8: 48,331,919 (GRCm39)	R299S	probably benign	Het
Xdh	C	T	17: 74,228,346 (GRCm39)	G352R	probably damaging	Het
Xkr9	A	T	1: 13,770,990 (GRCm39)	M169L	probably benign	Het
Zbtb10	A	G	3: 9,345,807 (GRCm39)	D767G	probably damaging	Het
Zfp106	T	C	2: 120,366,077 (GRCm39)	Y65C		Het
Zfp536	A	G	7: 37,268,228 (GRCm39)	L396P	probably damaging	Het
Znhit1	C	A	5: 137,011,408 (GRCm39)	C135F	probably damaging	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
R8328:Zscan5b	UTSW	7	6,236,946 (GRCm39)	missense	possibly damaging	0.93
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'- TACCCACTTCCCAAGGAGTG -3'
(R):5'- AGCGTTGCCCACAATCCTTAC -3'

Sequencing Primer
(F):5'- GGCGTCCTATATGGGCAATAC -3'
(R):5'- TCCTTACACACAAAAGGCTTCTC -3'

Posted On

2021-10-11