Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4445001:Zscan25'

555400

Institutional Source

Beutler Lab

Gene Symbol

Zscan25

Ensembl Gene

ENSMUSG00000070420

Gene Name

zinc finger and SCAN domain containing 25

Synonyms

Zfp498, EG666311

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.156) question?

Stock #

PIT4445001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

145280500-145291278 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 145290612 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 362 (V362D)

Ref Sequence

ENSEMBL: ENSMUSP00000091664 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094116] [ENSMUST00000199563] [ENSMUST00000200246]

AlphaFold

B2RX31

Predicted Effect

probably damaging
Transcript: ENSMUST00000094116
AA Change: V362D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000091664
Gene: ENSMUSG00000070420
AA Change: V362D

Domain	Start	End	E-Value	Type
SCAN	38	150	5.94e-53	SMART
Blast:KRAB	231	288	4e-31	BLAST
ZnF_C2H2	346	368	2.15e-5	SMART
ZnF_C2H2	374	396	5.06e-2	SMART
ZnF_C2H2	402	424	8.34e-3	SMART
ZnF_C2H2	430	452	3.39e-3	SMART
ZnF_C2H2	458	479	1.08e1	SMART
ZnF_C2H2	485	507	4.47e-3	SMART
ZnF_C2H2	513	536	5.59e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000199563

SMART Domains

Protein: ENSMUSP00000143449
Gene: ENSMUSG00000070420

Domain	Start	End	E-Value	Type
SCAN	38	150	2.1e-54	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000200246

SMART Domains

Protein: ENSMUSP00000142367
Gene: ENSMUSG00000070420

Domain	Start	End	E-Value	Type
SCAN	38	150	1.9e-55	SMART

Coding Region Coverage

1x: 93.5%
3x: 90.8%
10x: 84.5%
20x: 70.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that bears some similarity to zinc finger proteins, which are involved in DNA binding and protein-protein interactions. Multiple alternatively spliced transcript variants have been identified, but the full-length nature for most of them has not been determined. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	T	C	11: 110,075,551 (GRCm38)	K419E	probably damaging	Het
Adam7	T	A	14: 68,509,748 (GRCm38)	K587N	possibly damaging	Het
Agl	T	C	3: 116,771,460 (GRCm38)	M382V		Het
Agpat3	A	T	10: 78,274,093 (GRCm38)	F341I	possibly damaging	Het
Ampd2	A	T	3: 108,075,012 (GRCm38)	L767Q	probably damaging	Het
Arhgap28	A	T	17: 67,896,235 (GRCm38)	D124E	possibly damaging	Het
Arhgap32	T	C	9: 32,260,856 (GRCm38)	L1644P	probably damaging	Het
Asic4	T	C	1: 75,451,127 (GRCm38)	V99A	probably benign	Het
Asns	T	A	6: 7,689,277 (GRCm38)	N75I	probably damaging	Het
Atp10a	A	G	7: 58,803,467 (GRCm38)	D798G	probably damaging	Het
Atp8a1	A	G	5: 67,622,660 (GRCm38)	V1145A		Het
BC017158	A	G	7: 128,276,534 (GRCm38)	V243A	probably benign	Het
Ccdc171	A	G	4: 83,661,747 (GRCm38)	Q577R	probably damaging	Het
Cd247	T	A	1: 165,861,036 (GRCm38)	D154E	probably damaging	Het
Ceacam1	A	T	7: 25,476,456 (GRCm38)	N104K	probably damaging	Het
Chfr	A	G	5: 110,151,677 (GRCm38)	D312G	possibly damaging	Het
Ddb1	C	A	19: 10,625,970 (GRCm38)	L881I	probably damaging	Het
Dgkh	A	T	14: 78,575,942 (GRCm38)	I1032N	possibly damaging	Het
Efcab6	A	T	15: 83,904,267 (GRCm38)	V942D	probably benign	Het
Fmo5	A	G	3: 97,651,528 (GRCm38)	T435A	probably benign	Het
Fpr1	T	C	17: 17,876,893 (GRCm38)	Q278R	probably benign	Het
Fzr1	C	T	10: 81,369,394 (GRCm38)	W256*	probably null	Het
Gabrb1	T	C	5: 72,108,782 (GRCm38)	S261P	probably damaging	Het
Galr2	G	T	11: 116,281,648 (GRCm38)	A55S	probably benign	Het
Gbp2	A	T	3: 142,637,466 (GRCm38)	K581N	probably benign	Het
Gm7682	T	G	5: 94,448,507 (GRCm38)	W468G	probably benign	Het
Gria1	A	T	11: 57,185,838 (GRCm38)	Y89F	probably damaging	Het
Ibsp	T	A	5: 104,302,304 (GRCm38)	I26N	possibly damaging	Het
Igf1r	T	C	7: 68,207,463 (GRCm38)	F1058L	probably damaging	Het
Ighv1-16	A	C	12: 114,666,060 (GRCm38)	C36G	probably benign	Het
Igll1	T	C	16: 16,860,919 (GRCm38)	T176A	probably benign	Het
Ilkap	T	C	1: 91,385,345 (GRCm38)	T143A	probably benign	Het
Kdm3b	A	T	18: 34,793,115 (GRCm38)	K103*	probably null	Het
Mphosph9	A	G	5: 124,298,790 (GRCm38)	I497T	possibly damaging	Het
Mrgpra3	G	A	7: 47,590,160 (GRCm38)	T6I	possibly damaging	Het
Mrpl38	T	C	11: 116,132,558 (GRCm38)		probably null	Het
Myo3a	A	T	2: 22,542,415 (GRCm38)	E813V	possibly damaging	Het
Myo7b	G	T	18: 31,959,466 (GRCm38)	Q2093K	possibly damaging	Het
Myo7b	T	C	18: 31,962,352 (GRCm38)	K1851R	probably damaging	Het
P3h2	T	A	16: 25,984,999 (GRCm38)	D339V	probably benign	Het
Pcdhb6	C	A	18: 37,335,247 (GRCm38)	P407Q	possibly damaging	Het
Plch2	C	A	4: 155,009,026 (GRCm38)	R153L	probably damaging	Het
Plppr4	G	A	3: 117,360,308 (GRCm38)		probably benign	Het
Ppp1r3a	A	G	6: 14,717,777 (GRCm38)	F1046S	probably damaging	Het
Prkacb	A	T	3: 146,755,691 (GRCm38)	L107M	probably benign	Het
Ranbp17	A	G	11: 33,481,020 (GRCm38)		probably null	Het
Rasl11b	C	A	5: 74,197,333 (GRCm38)	P88Q	probably damaging	Het
Rcc2	A	G	4: 140,721,149 (GRCm38)	E503G	possibly damaging	Het
Rnf216	T	A	5: 143,086,003 (GRCm38)	K407N	probably damaging	Het
Scrn3	G	A	2: 73,318,329 (GRCm38)	M81I	possibly damaging	Het
Scube2	T	C	7: 109,809,180 (GRCm38)	T687A	probably benign	Het
Serpinb10	T	A	1: 107,535,998 (GRCm38)	F3L	probably benign	Het
Sgcb	C	T	5: 73,639,812 (GRCm38)	V202I	probably damaging	Het
Sgce	A	G	6: 4,689,654 (GRCm38)	V429A	possibly damaging	Het
Sh3rf2	T	C	18: 42,153,164 (GRCm38)	V574A	probably benign	Het
Sncaip	T	C	18: 52,868,944 (GRCm38)	L179S	probably damaging	Het
Sntg2	A	T	12: 30,312,572 (GRCm38)	D58E	probably damaging	Het
Taar3	T	C	10: 23,949,688 (GRCm38)	I44T	possibly damaging	Het
Tmem87b	G	A	2: 128,831,471 (GRCm38)	V227I	probably benign	Het
Tnfsf9	T	C	17: 57,105,517 (GRCm38)	L29P	possibly damaging	Het
Tnip2	T	C	5: 34,496,871 (GRCm38)	H391R	probably benign	Het
Traf5	A	G	1: 191,997,807 (GRCm38)	Y125H		Het
Ttc23	T	G	7: 67,667,213 (GRCm38)	I77M	probably damaging	Het
Ube2l3	T	C	16: 17,160,172 (GRCm38)	N43S	probably benign	Het
Vars2	A	T	17: 35,666,211 (GRCm38)	C142*	probably null	Het
Vmn2r15	A	C	5: 109,287,142 (GRCm38)	D565E	probably damaging	Het
Vmn2r56	C	T	7: 12,715,226 (GRCm38)		probably null	Het
Vmn2r79	A	T	7: 87,002,200 (GRCm38)	D269V	possibly damaging	Het
Vmn2r85	A	T	10: 130,425,703 (GRCm38)	M255K	probably benign	Het
Wfdc6a	T	A	2: 164,579,826 (GRCm38)	*137C	probably null	Het
Wipi2	T	C	5: 142,666,884 (GRCm38)	V417A	probably benign	Het
Xirp2	G	T	2: 67,509,772 (GRCm38)	V786L	possibly damaging	Het
Zdhhc13	G	A	7: 48,795,949 (GRCm38)	G26S	probably benign	Het

Other mutations in Zscan25

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00309:Zscan25	APN	5	145,283,749 (GRCm38)	missense	probably damaging	1.00
IGL02622:Zscan25	APN	5	145,290,702 (GRCm38)	missense	probably damaging	1.00
IGL02881:Zscan25	APN	5	145,290,486 (GRCm38)	missense	probably benign	0.25
R1713:Zscan25	UTSW	5	145,283,691 (GRCm38)	missense	probably damaging	0.99
R1828:Zscan25	UTSW	5	145,291,048 (GRCm38)	missense	possibly damaging	0.95
R2233:Zscan25	UTSW	5	145,283,692 (GRCm38)	missense	probably damaging	1.00
R3882:Zscan25	UTSW	5	145,291,052 (GRCm38)	missense	probably damaging	1.00
R4330:Zscan25	UTSW	5	145,290,551 (GRCm38)	missense	probably damaging	0.99
R4527:Zscan25	UTSW	5	145,283,458 (GRCm38)	missense	probably damaging	1.00
R4539:Zscan25	UTSW	5	145,288,391 (GRCm38)	missense	probably benign	0.01
R4598:Zscan25	UTSW	5	145,291,005 (GRCm38)	missense	probably benign	0.30
R4611:Zscan25	UTSW	5	145,291,116 (GRCm38)	missense	probably damaging	1.00
R4662:Zscan25	UTSW	5	145,286,310 (GRCm38)	missense	unknown
R6733:Zscan25	UTSW	5	145,290,913 (GRCm38)	splice site	probably null
R6751:Zscan25	UTSW	5	145,290,563 (GRCm38)	missense	probably damaging	1.00
R7161:Zscan25	UTSW	5	145,286,441 (GRCm38)	missense	probably benign	0.00
R7912:Zscan25	UTSW	5	145,290,511 (GRCm38)	missense	probably benign	0.00
R8746:Zscan25	UTSW	5	145,287,347 (GRCm38)	missense	possibly damaging	0.81
R8936:Zscan25	UTSW	5	145,286,390 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAGCCGACATCCAGATTCCTG -3'
(R):5'- CCAGCAGTCTGAGCACTTGTAG -3'

Sequencing Primer
(F):5'- AGCTCTGGGACCAGTCT -3'
(R):5'- TCTCCCCAGTGTGGCTACG -3'

Posted On

2019-06-07