Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02348:Zscan21'

289381

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zscan21

Ensembl Gene

ENSMUSG00000037017

Gene Name

zinc finger and SCAN domain containing 21

Synonyms

RU49, Zfp-38, Zfp38, Zipro1, CTfin51

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02348

Quality Score

Status

Chromosome

Chromosomal Location

138115165-138132527 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 138131645 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 390 (T390A)

Ref Sequence

ENSEMBL: ENSMUSP00000106586 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062350] [ENSMUST00000080732] [ENSMUST00000110959] [ENSMUST00000110960] [ENSMUST00000110961]

AlphaFold

Q07231

Predicted Effect

probably damaging
Transcript: ENSMUST00000062350
AA Change: T390A

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000053430
Gene: ENSMUSG00000037017
AA Change: T390A

Domain	Start	End	E-Value	Type
low complexity region	28	37	N/A	INTRINSIC
SCAN	118	230	1.7e-80	SMART
ZnF_C2H2	359	381	3.95e-4	SMART
ZnF_C2H2	387	409	4.87e-4	SMART
ZnF_C2H2	415	436	1.26e1	SMART
ZnF_C2H2	442	464	4.3e-5	SMART
ZnF_C2H2	470	492	3.95e-4	SMART
ZnF_C2H2	498	520	1.38e-3	SMART
ZnF_C2H2	526	548	2.2e-2	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000080732
AA Change: T390A

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000079557
Gene: ENSMUSG00000037017
AA Change: T390A

Domain	Start	End	E-Value	Type
low complexity region	28	37	N/A	INTRINSIC
SCAN	118	230	1.7e-80	SMART
ZnF_C2H2	359	381	3.95e-4	SMART
ZnF_C2H2	387	409	4.87e-4	SMART
ZnF_C2H2	415	436	1.26e1	SMART
ZnF_C2H2	442	464	4.3e-5	SMART
ZnF_C2H2	470	492	3.95e-4	SMART
ZnF_C2H2	498	520	1.38e-3	SMART
ZnF_C2H2	526	548	2.2e-2	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000110959
AA Change: T390A

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000106584
Gene: ENSMUSG00000037017
AA Change: T390A

Domain	Start	End	E-Value	Type
low complexity region	28	37	N/A	INTRINSIC
SCAN	118	230	1.7e-80	SMART
ZnF_C2H2	359	381	3.95e-4	SMART
ZnF_C2H2	387	409	4.87e-4	SMART
ZnF_C2H2	415	436	1.26e1	SMART
ZnF_C2H2	442	464	4.3e-5	SMART
ZnF_C2H2	470	492	3.95e-4	SMART
ZnF_C2H2	498	520	1.38e-3	SMART
ZnF_C2H2	526	548	2.2e-2	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000110960
AA Change: T390A

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000106585
Gene: ENSMUSG00000037017
AA Change: T390A

Domain	Start	End	E-Value	Type
low complexity region	28	37	N/A	INTRINSIC
SCAN	118	230	1.7e-80	SMART
ZnF_C2H2	359	381	3.95e-4	SMART
ZnF_C2H2	387	409	4.87e-4	SMART
ZnF_C2H2	415	436	1.26e1	SMART
ZnF_C2H2	442	464	4.3e-5	SMART
ZnF_C2H2	470	492	3.95e-4	SMART
ZnF_C2H2	498	520	1.38e-3	SMART
ZnF_C2H2	526	548	2.2e-2	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000110961
AA Change: T390A

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000106586
Gene: ENSMUSG00000037017
AA Change: T390A

Domain	Start	End	E-Value	Type
low complexity region	28	37	N/A	INTRINSIC
SCAN	118	230	1.7e-80	SMART
ZnF_C2H2	359	381	3.95e-4	SMART
ZnF_C2H2	387	409	4.87e-4	SMART
ZnF_C2H2	415	436	1.26e1	SMART
ZnF_C2H2	442	464	4.3e-5	SMART
ZnF_C2H2	470	492	3.95e-4	SMART
ZnF_C2H2	498	520	1.38e-3	SMART
ZnF_C2H2	526	548	2.2e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000142185

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygotes for a targeted null mutation appear to be phenotypically normal. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap12	G	A	10: 4,304,722 (GRCm39)	D511N	probably damaging	Het
Akt3	T	A	1: 176,886,952 (GRCm39)	D299V	probably damaging	Het
Arfgef3	G	A	10: 18,467,095 (GRCm39)	P2035L	probably benign	Het
Atp13a3	C	T	16: 30,170,046 (GRCm39)		probably null	Het
Capn9	C	A	8: 125,321,416 (GRCm39)	P151T	probably damaging	Het
Csrnp1	T	A	9: 119,801,709 (GRCm39)	D450V	probably damaging	Het
Ctrb1	C	T	8: 112,413,762 (GRCm39)	A201T	possibly damaging	Het
Erp27	T	C	6: 136,888,544 (GRCm39)	T145A	probably damaging	Het
Fads2b	T	C	2: 85,323,640 (GRCm39)	I298V	possibly damaging	Het
Fanca	A	T	8: 124,032,002 (GRCm39)	L256Q	probably damaging	Het
Fars2	G	A	13: 36,721,354 (GRCm39)	V433I	probably benign	Het
Fbxo9	T	A	9: 78,016,289 (GRCm39)	M1L	probably benign	Het
Fcnb	C	A	2: 27,974,842 (GRCm39)	V10F	possibly damaging	Het
Gad2	C	T	2: 22,519,405 (GRCm39)	H175Y	probably damaging	Het
Get4	G	A	5: 139,238,254 (GRCm39)	G12D	probably benign	Het
Gmpr2	T	A	14: 55,915,758 (GRCm39)	I312N	probably damaging	Het
Golm1	T	A	13: 59,786,191 (GRCm39)	M334L	probably benign	Het
Itgam	T	A	7: 127,715,472 (GRCm39)	F1054L	possibly damaging	Het
Kcnk7	C	A	19: 5,756,501 (GRCm39)		probably benign	Het
Kif3b	G	A	2: 153,158,813 (GRCm39)	A205T	probably damaging	Het
Macf1	C	T	4: 123,406,659 (GRCm39)	V276M	probably damaging	Het
Mdga2	T	A	12: 66,597,349 (GRCm39)	N715I	probably damaging	Het
Mfap5	T	A	6: 122,503,746 (GRCm39)	S103R	possibly damaging	Het
Nckap1	C	T	2: 80,348,326 (GRCm39)	V876M	probably damaging	Het
Ncor1	A	T	11: 62,224,485 (GRCm39)		probably benign	Het
Nfya	G	A	17: 48,700,304 (GRCm39)	Q122*	probably null	Het
Nup210l	G	A	3: 90,011,471 (GRCm39)		probably benign	Het
Or5h22	T	G	16: 58,895,312 (GRCm39)	I44L	probably damaging	Het
Pcdhb19	T	A	18: 37,631,861 (GRCm39)	L552Q	probably damaging	Het
Psmd2	T	A	16: 20,473,397 (GRCm39)	S153T	probably benign	Het
Ptpn4	T	C	1: 119,610,452 (GRCm39)	Y685C	probably damaging	Het
Rad54l2	T	C	9: 106,597,575 (GRCm39)	R144G	probably damaging	Het
S1pr4	A	C	10: 81,334,855 (GRCm39)	Y206*	probably null	Het
Slc39a14	A	G	14: 70,553,885 (GRCm39)		probably null	Het
Stx2	G	A	5: 129,065,894 (GRCm39)	A254V	probably damaging	Het
Sumf2	G	T	5: 129,888,711 (GRCm39)	G216C	probably damaging	Het
Tbc1d32	A	G	10: 56,100,715 (GRCm39)	S88P	probably benign	Het
Trem1	T	A	17: 48,539,824 (GRCm39)	M1K	probably null	Het
Trmt1l	T	C	1: 151,325,757 (GRCm39)	Y401H	probably damaging	Het
Ttc22	A	T	4: 106,480,135 (GRCm39)	M130L	probably damaging	Het
Wnk1	T	C	6: 119,940,289 (GRCm39)	E816G	probably damaging	Het
Wnt9b	C	T	11: 103,622,908 (GRCm39)	G165D	probably damaging	Het
Zswim7	G	T	11: 62,159,581 (GRCm39)	C85*	probably null	Het

Other mutations in Zscan21

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00775:Zscan21	APN	5	138,131,310 (GRCm39)	nonsense	probably null
IGL03295:Zscan21	APN	5	138,123,540 (GRCm39)	missense	possibly damaging	0.85
R0454:Zscan21	UTSW	5	138,131,865 (GRCm39)	missense	possibly damaging	0.77
R0471:Zscan21	UTSW	5	138,123,402 (GRCm39)	missense	probably benign	0.33
R1465:Zscan21	UTSW	5	138,123,470 (GRCm39)	missense	probably benign	0.18
R1465:Zscan21	UTSW	5	138,123,470 (GRCm39)	missense	probably benign	0.18
R1860:Zscan21	UTSW	5	138,124,892 (GRCm39)	missense	probably benign	0.00
R5498:Zscan21	UTSW	5	138,131,522 (GRCm39)	missense	probably benign
R5851:Zscan21	UTSW	5	138,124,740 (GRCm39)	missense	probably benign	0.39
R6213:Zscan21	UTSW	5	138,123,359 (GRCm39)	missense	probably benign	0.09
R7079:Zscan21	UTSW	5	138,124,728 (GRCm39)	missense	probably benign	0.11
R7448:Zscan21	UTSW	5	138,116,110 (GRCm39)	start gained	probably benign
R8436:Zscan21	UTSW	5	138,116,178 (GRCm39)	missense	unknown
R9116:Zscan21	UTSW	5	138,123,937 (GRCm39)	missense	probably damaging	0.99

Posted On

2015-04-16