Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01934:Zscan20'

180574

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zscan20

Ensembl Gene

ENSMUSG00000061894

Gene Name

zinc finger and SCAN domains 20

Synonyms

Zfp31

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.230) question?

Stock #

IGL01934

Quality Score

Status

Chromosome

Chromosomal Location

128477332-128503891 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 128486277 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 141 (D141G)

Ref Sequence

ENSEMBL: ENSMUSP00000119338 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000097877] [ENSMUST00000135309]

AlphaFold

B2KFW1

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000084276

Predicted Effect

probably benign
Transcript: ENSMUST00000097877
AA Change: D141G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000095487
Gene: ENSMUSG00000061894
AA Change: D141G

Domain	Start	End	E-Value	Type
SCAN	41	147	1.31e-54	SMART
low complexity region	275	284	N/A	INTRINSIC
SANT	314	378	8.04e-1	SMART
SANT	475	539	4.85e-3	SMART
ZnF_C2H2	725	747	2.61e1	SMART
ZnF_C2H2	753	775	9.88e-5	SMART
ZnF_C2H2	781	803	1.12e-3	SMART
ZnF_C2H2	862	884	3.21e-4	SMART
ZnF_C2H2	890	912	1.04e-3	SMART
ZnF_C2H2	918	940	1.56e-2	SMART
ZnF_C2H2	946	968	2.84e-5	SMART
ZnF_C2H2	974	996	4.54e-4	SMART
ZnF_C2H2	1002	1024	1.47e-3	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000135309
AA Change: D141G

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000119338
Gene: ENSMUSG00000061894
AA Change: D141G

Domain	Start	End	E-Value	Type
SCAN	41	147	1.31e-54	SMART
low complexity region	279	293	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931414P19Rik	T	C	14: 54,823,112 (GRCm39)	K362E	probably damaging	Het
4932438H23Rik	T	A	16: 90,852,753 (GRCm39)	T128S	probably damaging	Het
Aars1	T	A	8: 111,774,650 (GRCm39)	I593N	probably damaging	Het
Abca6	A	T	11: 110,079,481 (GRCm39)	N1224K	probably benign	Het
Abcc5	A	T	16: 20,241,191 (GRCm39)		probably benign	Het
Adam7	A	G	14: 68,770,048 (GRCm39)	L35P	probably damaging	Het
Ahnak	T	A	19: 8,980,021 (GRCm39)	L435Q	probably damaging	Het
Ankef1	A	G	2: 136,394,451 (GRCm39)	E620G	possibly damaging	Het
Aoc1l3	A	T	6: 48,965,695 (GRCm39)	I568F	probably damaging	Het
Ap3d1	A	T	10: 80,545,092 (GRCm39)	L1082*	probably null	Het
Atp6v0a4	T	A	6: 38,028,481 (GRCm39)	I712F	possibly damaging	Het
Bco1	T	A	8: 117,822,784 (GRCm39)	F5L	possibly damaging	Het
Cacna2d4	A	T	6: 119,285,729 (GRCm39)	S794C	probably damaging	Het
Camk2d	T	C	3: 126,628,304 (GRCm39)		probably null	Het
Capn15	T	C	17: 26,181,998 (GRCm39)	T604A	probably damaging	Het
Cd180	A	T	13: 102,839,366 (GRCm39)	D83V	probably damaging	Het
Ces1a	C	A	8: 93,759,278 (GRCm39)	R286L	probably damaging	Het
Col6a6	A	G	9: 105,575,858 (GRCm39)		probably null	Het
Crnkl1	A	G	2: 145,773,202 (GRCm39)	V148A	probably benign	Het
Epas1	A	T	17: 87,131,157 (GRCm39)	K312N	probably damaging	Het
Fbxw2	T	C	2: 34,712,618 (GRCm39)	S148G	probably damaging	Het
Fig4	T	C	10: 41,104,108 (GRCm39)	T791A	probably benign	Het
Galnt9	A	T	5: 110,750,502 (GRCm39)	I340F	possibly damaging	Het
Gfap	G	A	11: 102,785,286 (GRCm39)	A230V	probably damaging	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Gm454	T	C	5: 138,205,424 (GRCm39)		noncoding transcript	Het
Il24	A	T	1: 130,811,614 (GRCm39)	L115Q	probably damaging	Het
Ipp	C	A	4: 116,367,852 (GRCm39)	N28K	probably damaging	Het
Kalrn	A	T	16: 34,018,882 (GRCm39)		probably null	Het
Klf10	C	T	15: 38,297,528 (GRCm39)	V171M	probably benign	Het
Man1b1	T	C	2: 25,235,523 (GRCm39)	S350P	probably benign	Het
Mfsd4a	T	C	1: 131,974,049 (GRCm39)	Y343C	probably damaging	Het
Mrpl58	C	A	11: 115,301,555 (GRCm39)		probably benign	Het
Myo7b	A	G	18: 32,134,394 (GRCm39)		probably null	Het
Nbas	T	C	12: 13,339,880 (GRCm39)		probably benign	Het
Nisch	A	G	14: 30,898,696 (GRCm39)		probably benign	Het
Or1o2	A	T	17: 37,542,439 (GRCm39)	V274D	probably damaging	Het
Or52z14	T	C	7: 103,253,182 (GRCm39)	F107S	probably damaging	Het
Or5p69	A	G	7: 107,967,368 (GRCm39)	I224V	probably damaging	Het
Parva	T	A	7: 112,187,760 (GRCm39)	C352*	probably null	Het
Ptf1a	T	A	2: 19,451,431 (GRCm39)	C254S	possibly damaging	Het
R3hdm1	G	T	1: 128,164,272 (GRCm39)	R1062L	probably benign	Het
Rnf44	A	G	13: 54,829,763 (GRCm39)	V407A	probably damaging	Het
Shank3	T	C	15: 89,434,049 (GRCm39)	L1598P	probably damaging	Het
Slit2	T	C	5: 48,395,747 (GRCm39)	S717P	possibly damaging	Het
Tdpoz4	A	G	3: 93,704,779 (GRCm39)	K359E	probably damaging	Het
Tmtc4	A	T	14: 123,165,047 (GRCm39)	L604*	probably null	Het
Tnfrsf21	A	T	17: 43,376,078 (GRCm39)	N488I	probably benign	Het
Tnfsf8	A	G	4: 63,752,747 (GRCm39)		probably benign	Het
Tnpo3	A	T	6: 29,575,019 (GRCm39)	L382M	probably benign	Het
Tut1	T	C	19: 8,931,355 (GRCm39)	C18R	probably damaging	Het
Ugt8a	A	G	3: 125,708,424 (GRCm39)	S229P	probably benign	Het
Usp22	T	C	11: 61,046,114 (GRCm39)	E476G	probably damaging	Het
Vill	G	T	9: 118,895,877 (GRCm39)	A146S	probably damaging	Het
Vmn1r178	T	C	7: 23,593,362 (GRCm39)	Y137H	probably damaging	Het
Wdfy1	A	T	1: 79,717,833 (GRCm39)	W51R	probably damaging	Het
Zc3hav1	A	T	6: 38,296,768 (GRCm39)		probably null	Het
Zfp236	A	T	18: 82,651,245 (GRCm39)	V889E	probably damaging	Het

Other mutations in Zscan20

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00552:Zscan20	APN	4	128,480,428 (GRCm39)	missense	probably damaging	0.99
IGL01454:Zscan20	APN	4	128,483,334 (GRCm39)	missense	probably benign	0.01
IGL02288:Zscan20	APN	4	128,480,436 (GRCm39)	missense	probably damaging	1.00
IGL02336:Zscan20	APN	4	128,479,587 (GRCm39)	missense	probably damaging	1.00
IGL02385:Zscan20	APN	4	128,498,392 (GRCm39)	missense	possibly damaging	0.66
IGL02437:Zscan20	APN	4	128,482,210 (GRCm39)	missense	probably damaging	1.00
IGL02450:Zscan20	APN	4	128,480,450 (GRCm39)	missense	probably damaging	0.99
R0034:Zscan20	UTSW	4	128,479,455 (GRCm39)	missense	probably damaging	0.96
R0034:Zscan20	UTSW	4	128,479,455 (GRCm39)	missense	probably damaging	0.96
R0070:Zscan20	UTSW	4	128,479,675 (GRCm39)	missense	possibly damaging	0.73
R0142:Zscan20	UTSW	4	128,479,630 (GRCm39)	missense	probably benign	0.38
R0496:Zscan20	UTSW	4	128,485,682 (GRCm39)	missense	probably benign	0.42
R0567:Zscan20	UTSW	4	128,483,243 (GRCm39)	critical splice donor site	probably null
R1333:Zscan20	UTSW	4	128,481,889 (GRCm39)	missense	possibly damaging	0.61
R1716:Zscan20	UTSW	4	128,480,334 (GRCm39)	missense	probably damaging	0.96
R2302:Zscan20	UTSW	4	128,482,057 (GRCm39)	missense	probably damaging	1.00
R3870:Zscan20	UTSW	4	128,480,218 (GRCm39)	missense	probably damaging	1.00
R4611:Zscan20	UTSW	4	128,481,899 (GRCm39)	missense	probably benign	0.00
R4884:Zscan20	UTSW	4	128,481,958 (GRCm39)	missense	possibly damaging	0.56
R4972:Zscan20	UTSW	4	128,486,152 (GRCm39)	missense	probably benign	0.39
R5033:Zscan20	UTSW	4	128,479,921 (GRCm39)	missense	probably benign	0.01
R5160:Zscan20	UTSW	4	128,486,275 (GRCm39)	missense	possibly damaging	0.69
R5182:Zscan20	UTSW	4	128,480,504 (GRCm39)	missense	possibly damaging	0.71
R5214:Zscan20	UTSW	4	128,482,109 (GRCm39)	missense	probably benign	0.00
R5345:Zscan20	UTSW	4	128,481,914 (GRCm39)	missense	probably benign	0.04
R5863:Zscan20	UTSW	4	128,480,141 (GRCm39)	nonsense	probably null
R6217:Zscan20	UTSW	4	128,498,327 (GRCm39)	missense	probably damaging	1.00
R6597:Zscan20	UTSW	4	128,479,539 (GRCm39)	missense	probably damaging	0.96
R6751:Zscan20	UTSW	4	128,479,668 (GRCm39)	missense	probably damaging	1.00
R6852:Zscan20	UTSW	4	128,483,515 (GRCm39)	missense	probably damaging	1.00
R7172:Zscan20	UTSW	4	128,479,469 (GRCm39)	nonsense	probably null
R7338:Zscan20	UTSW	4	128,481,943 (GRCm39)	missense	probably benign
R7805:Zscan20	UTSW	4	128,479,599 (GRCm39)	missense	probably damaging	1.00
R8063:Zscan20	UTSW	4	128,480,028 (GRCm39)	missense	probably benign	0.01
R8244:Zscan20	UTSW	4	128,479,759 (GRCm39)	missense	probably benign	0.32
R8421:Zscan20	UTSW	4	128,479,620 (GRCm39)	missense	probably damaging	1.00
R8752:Zscan20	UTSW	4	128,479,480 (GRCm39)	missense	probably damaging	1.00
R8939:Zscan20	UTSW	4	128,498,315 (GRCm39)	missense	probably benign	0.00
R8971:Zscan20	UTSW	4	128,479,848 (GRCm39)	missense	probably damaging	1.00
R8971:Zscan20	UTSW	4	128,479,847 (GRCm39)	missense	probably damaging	1.00
R9149:Zscan20	UTSW	4	128,481,914 (GRCm39)	missense	probably benign	0.15
R9458:Zscan20	UTSW	4	128,480,639 (GRCm39)	critical splice acceptor site	probably null

Posted On

2014-05-07