Mutagenetix > Incidental Mutation

Incidental Mutation 'R5818:Zscan26'

449185

Institutional Source

Beutler Lab

Gene Symbol

Zscan26

Ensembl Gene

ENSMUSG00000022228

Gene Name

zinc finger and SCAN domain containing 26

Synonyms

Zfp187

MMRRC Submission

043398-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.145) question?

Stock #

R5818 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

21626350-21637900 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 21629931 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 65 (S65P)

Ref Sequence

ENSEMBL: ENSMUSP00000032820 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032820] [ENSMUST00000110485] [ENSMUST00000122872] [ENSMUST00000148071] [ENSMUST00000151743]

AlphaFold

Q5RJ54

Predicted Effect

probably benign
Transcript: ENSMUST00000032820
AA Change: S65P

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000032820
Gene: ENSMUSG00000022228
AA Change: S65P

Domain	Start	End	E-Value	Type
ZnF_C2H2	144	166	1.58e-3	SMART
ZnF_C2H2	172	194	6.99e-5	SMART
ZnF_C2H2	200	222	1.67e-2	SMART
ZnF_C2H2	228	250	1.45e-2	SMART
ZnF_C2H2	256	278	2.53e-2	SMART
ZnF_C2H2	284	306	5.14e-3	SMART
ZnF_C2H2	312	334	2.95e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000110485
AA Change: S191P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000106111
Gene: ENSMUSG00000022228
AA Change: S191P

Domain	Start	End	E-Value	Type
SCAN	38	151	1.58e-48	SMART
ZnF_C2H2	270	292	1.58e-3	SMART
ZnF_C2H2	298	320	6.99e-5	SMART
ZnF_C2H2	326	348	1.67e-2	SMART
ZnF_C2H2	354	376	1.45e-2	SMART
ZnF_C2H2	382	404	2.53e-2	SMART
ZnF_C2H2	410	432	5.14e-3	SMART
ZnF_C2H2	438	460	2.95e-3	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000122641

Predicted Effect

probably benign
Transcript: ENSMUST00000122872

SMART Domains

Protein: ENSMUSP00000120175
Gene: ENSMUSG00000055313

Domain	Start	End	E-Value	Type
Blast:SCAN	1	65	1e-13	BLAST
low complexity region	155	167	N/A	INTRINSIC
Pfam:DDE_Tnp_1_7	213	374	1.4e-42	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000122926

Predicted Effect

probably benign
Transcript: ENSMUST00000148071

SMART Domains

Protein: ENSMUSP00000114882
Gene: ENSMUSG00000055313

Domain	Start	End	E-Value	Type
Blast:SCAN	1	65	3e-16	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000151743

SMART Domains

Protein: ENSMUSP00000117669
Gene: ENSMUSG00000055313

Domain	Start	End	E-Value	Type
Blast:SCAN	1	65	7e-14	BLAST
low complexity region	192	204	N/A	INTRINSIC
Pfam:DDE_Tnp_1_7	250	411	1.7e-42	PFAM

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.1%

Validation Efficiency

100% (64/64)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	A	T	11: 110,110,469 (GRCm39)	V560D	probably damaging	Het
Actn4	A	G	7: 28,618,444 (GRCm39)	I72T	probably damaging	Het
Adam33	A	T	2: 130,896,278 (GRCm39)	C440S	possibly damaging	Het
Bace1	T	C	9: 45,770,347 (GRCm39)	I361T	possibly damaging	Het
Bend6	T	C	1: 33,922,654 (GRCm39)		probably benign	Het
Bpifb9a	T	G	2: 154,104,215 (GRCm39)	N219K	probably damaging	Het
Cacna1g	C	A	11: 94,308,946 (GRCm39)	K1634N	probably damaging	Het
Cdk18	A	G	1: 132,046,836 (GRCm39)		probably null	Het
Chrng	G	A	1: 87,137,523 (GRCm39)	V320I	probably benign	Het
Corin	G	T	5: 72,592,738 (GRCm39)	H87N	probably benign	Het
Cps1	A	T	1: 67,205,647 (GRCm39)	I557F	possibly damaging	Het
Cyp4a29	T	C	4: 115,104,229 (GRCm39)	V99A	possibly damaging	Het
Dach1	T	C	14: 98,406,120 (GRCm39)	D209G	probably damaging	Het
Dgat1	G	A	15: 76,386,407 (GRCm39)		probably benign	Het
Eif1ad8	T	G	12: 87,563,830 (GRCm39)	V55G	possibly damaging	Het
Fbxw26	G	T	9: 109,561,634 (GRCm39)	R187S	probably benign	Het
Gabrd	G	A	4: 155,472,818 (GRCm39)	P122S	probably damaging	Het
Gm11677	C	T	11: 111,615,537 (GRCm39)		noncoding transcript	Het
Hif1a	A	G	12: 73,986,338 (GRCm39)	Q343R	possibly damaging	Het
Hyou1	G	A	9: 44,300,223 (GRCm39)		probably null	Het
Igfn1	A	T	1: 135,893,864 (GRCm39)	I2072K	possibly damaging	Het
Itprid2	T	A	2: 79,474,937 (GRCm39)	S299T	probably damaging	Het
Kash5	C	T	7: 44,843,383 (GRCm39)		probably null	Het
Kctd8	C	T	5: 69,454,054 (GRCm39)	A328T	probably benign	Het
Krt10	A	G	11: 99,279,597 (GRCm39)	Y188H	probably damaging	Het
Krtap4-16	T	A	11: 99,742,349 (GRCm39)	Q17L	unknown	Het
Larp4b	T	A	13: 9,208,596 (GRCm39)	S416R	probably benign	Het
Lmtk2	G	A	5: 144,093,718 (GRCm39)	V232M	probably benign	Het
Mroh4	A	G	15: 74,483,831 (GRCm39)	I571T	probably damaging	Het
Myo15a	G	A	11: 60,388,777 (GRCm39)	R2021Q	probably benign	Het
Npl	G	A	1: 153,411,661 (GRCm39)	R63C	probably damaging	Het
Ntn4	A	G	10: 93,480,626 (GRCm39)	I80V	probably benign	Het
Numb	C	T	12: 83,872,028 (GRCm39)		probably null	Het
Nusap1	A	C	2: 119,465,994 (GRCm39)	M205L	possibly damaging	Het
Onecut2	T	A	18: 64,474,046 (GRCm39)	M180K	possibly damaging	Het
Or10d1b	T	C	9: 39,613,661 (GRCm39)	S135G	probably benign	Het
Pmfbp1	T	C	8: 110,265,311 (GRCm39)		probably null	Het
Ppfia1	T	C	7: 144,074,305 (GRCm39)		probably benign	Het
Ppm1b	A	G	17: 85,301,147 (GRCm39)	K9R	probably benign	Het
Rab11fip3	T	C	17: 26,235,090 (GRCm39)	S608G	probably damaging	Het
Smim8	TTTAATGAAGAGCT	TT	4: 34,771,261 (GRCm39)		probably benign	Het
Sohlh2	A	G	3: 55,097,922 (GRCm39)	T125A	probably damaging	Het
Tet1	C	A	10: 62,652,187 (GRCm39)	M1610I	possibly damaging	Het
Tgfbr3	A	T	5: 107,280,869 (GRCm39)	D630E	probably benign	Het
Thnsl2	T	C	6: 71,111,127 (GRCm39)	D247G	probably benign	Het
Tmem198b	G	A	10: 128,638,057 (GRCm39)	R169W	probably benign	Het
Tmem201	G	A	4: 149,811,849 (GRCm39)	A332V	probably benign	Het
Tsku	T	C	7: 98,001,305 (GRCm39)	D342G	possibly damaging	Het
Ucn2	A	T	9: 108,815,565 (GRCm39)	H109L	probably benign	Het
Virma	T	G	4: 11,513,319 (GRCm39)	L391R	possibly damaging	Het
Vmn1r60	T	A	7: 5,548,098 (GRCm39)	M1L	probably benign	Het
Vmn2r76	T	C	7: 85,879,142 (GRCm39)	H386R	probably benign	Het
Zfp608	C	T	18: 55,028,468 (GRCm39)	R1315Q	probably benign	Het
Zmym2	A	G	14: 57,183,986 (GRCm39)	T983A	probably benign	Het

Other mutations in Zscan26

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00503:Zscan26	APN	13	21,629,271 (GRCm39)	missense	probably damaging	0.99
IGL00720:Zscan26	APN	13	21,629,369 (GRCm39)	missense	probably benign	0.00
R0558:Zscan26	UTSW	13	21,629,225 (GRCm39)	missense	probably benign	0.37
R1236:Zscan26	UTSW	13	21,629,940 (GRCm39)	missense	probably benign
R1912:Zscan26	UTSW	13	21,629,310 (GRCm39)	missense	possibly damaging	0.84
R4692:Zscan26	UTSW	13	21,629,427 (GRCm39)	missense	probably damaging	1.00
R6089:Zscan26	UTSW	13	21,632,499 (GRCm39)	missense	probably damaging	0.97
R8029:Zscan26	UTSW	13	21,629,520 (GRCm39)	missense	probably damaging	1.00
R9448:Zscan26	UTSW	13	21,632,431 (GRCm39)	missense	probably benign
Z1088:Zscan26	UTSW	13	21,629,633 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAGATTCCCAGGACATTTCTCC -3'
(R):5'- AGGTTAGGCCATGTTATTCTGC -3'

Sequencing Primer
(F):5'- AGGACATTTCTCCTGTATGTGC -3'
(R):5'- GTAACTCCAGTTTCCGGGAACTG -3'

Posted On

2016-12-20