Mutagenetix > Incidental Mutation

Incidental Mutation 'R0548:Zscan18'

44970

Institutional Source

Beutler Lab

Gene Symbol

Zscan18

Ensembl Gene

ENSMUSG00000070822

Gene Name

zinc finger and SCAN domain containing 18

Synonyms

EG232875

MMRRC Submission

038740-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

R0548 (G1)

Quality Score

190

Status

Validated

Chromosome

Chromosomal Location

12502017-12537562 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 12508103 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Threonine at position 466 (P466T)

Ref Sequence

ENSEMBL: ENSMUSP00000148239 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046245] [ENSMUST00000210650] [ENSMUST00000211392]

AlphaFold

E9PUD6

Predicted Effect

probably damaging
Transcript: ENSMUST00000046245
AA Change: P466T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000047088
Gene: ENSMUSG00000070822
AA Change: P466T

Domain	Start	End	E-Value	Type
low complexity region	10	21	N/A	INTRINSIC
low complexity region	30	45	N/A	INTRINSIC
low complexity region	72	102	N/A	INTRINSIC
low complexity region	118	132	N/A	INTRINSIC
low complexity region	134	154	N/A	INTRINSIC
internal_repeat_2	159	204	6.76e-5	PROSPERO
internal_repeat_1	197	221	2.66e-6	PROSPERO
low complexity region	225	256	N/A	INTRINSIC
low complexity region	262	310	N/A	INTRINSIC
low complexity region	312	335	N/A	INTRINSIC
internal_repeat_1	353	377	2.66e-6	PROSPERO
SCAN	397	509	1.16e-37	SMART
ZnF_C2H2	776	798	2.24e-3	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209869

Predicted Effect

probably damaging
Transcript: ENSMUST00000210650
AA Change: P466T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

unknown
Transcript: ENSMUST00000210891
AA Change: P55T

Predicted Effect

probably damaging
Transcript: ENSMUST00000211392
AA Change: P466T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211665

Meta Mutation Damage Score

0.7392

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.3%

Validation Efficiency

97% (62/64)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam39	T	G	8: 41,279,504 (GRCm39)	C632G	probably damaging	Het
Adamtsl3	T	C	7: 82,178,191 (GRCm39)		probably null	Het
Agfg1	A	G	1: 82,864,152 (GRCm39)	T447A	probably damaging	Het
Ankrd37	C	T	8: 46,451,433 (GRCm39)		probably null	Het
Apob	A	T	12: 8,056,282 (GRCm39)	D1555V	probably damaging	Het
Asxl3	T	A	18: 22,654,849 (GRCm39)		probably benign	Het
Brca2	C	A	5: 150,468,400 (GRCm39)	D2242E	probably damaging	Het
Car5b	G	A	X: 162,762,297 (GRCm39)	R282C	probably damaging	Het
Cdk5rap2	A	T	4: 70,267,379 (GRCm39)		probably null	Het
Cox10	A	T	11: 63,867,178 (GRCm39)	Y273N	probably damaging	Het
Dcbld2	A	T	16: 58,275,508 (GRCm39)	D408V	probably damaging	Het
Enam	A	T	5: 88,650,964 (GRCm39)	E824D	probably damaging	Het
Epm2aip1	T	C	9: 111,102,409 (GRCm39)	Y461H	probably damaging	Het
Fam72a	T	A	1: 131,461,599 (GRCm39)	S95T	probably damaging	Het
Fiz1	A	T	7: 5,012,167 (GRCm39)	V117D	possibly damaging	Het
Gm10355	C	T	3: 101,214,376 (GRCm39)		noncoding transcript	Het
Gm11595	A	T	11: 99,662,967 (GRCm39)	C238S	unknown	Het
Gm7589	T	G	9: 59,053,439 (GRCm39)		noncoding transcript	Het
H6pd	A	T	4: 150,066,073 (GRCm39)	V771E	probably damaging	Het
Htt	T	C	5: 35,028,090 (GRCm39)	L1782P	probably damaging	Het
Il33	T	C	19: 29,932,047 (GRCm39)	S147P	probably benign	Het
Lct	T	C	1: 128,212,932 (GRCm39)	Y1907C	probably damaging	Het
Lrp2	G	A	2: 69,367,982 (GRCm39)		probably benign	Het
Maco1	T	C	4: 134,533,971 (GRCm39)	D550G	probably damaging	Het
Map1b	T	C	13: 99,568,191 (GRCm39)	K1510R	unknown	Het
Marco	T	C	1: 120,419,767 (GRCm39)	T187A	probably benign	Het
Mki67	A	T	7: 135,298,637 (GRCm39)	N2132K	possibly damaging	Het
Mki67	T	A	7: 135,296,985 (GRCm39)	K2683M	probably damaging	Het
Mmp15	T	C	8: 96,098,979 (GRCm39)	V602A	probably damaging	Het
Mphosph10	T	A	7: 64,028,548 (GRCm39)	M536L	probably benign	Het
Mroh2a	C	A	1: 88,170,142 (GRCm39)	A685D	possibly damaging	Het
Mylk	G	C	16: 34,699,845 (GRCm39)	E403Q	possibly damaging	Het
N4bp2	G	T	5: 65,965,496 (GRCm39)	V1182L	probably benign	Het
Nlrc5	C	A	8: 95,248,411 (GRCm39)	F1715L	probably null	Het
Nsd2	T	A	5: 34,050,882 (GRCm39)	V1253E	probably damaging	Het
Numa1	T	C	7: 101,644,731 (GRCm39)	S236P	possibly damaging	Het
Or2a52	T	A	6: 43,144,121 (GRCm39)	I43K	probably benign	Het
Or4c120	C	A	2: 89,000,992 (GRCm39)	C188F	probably damaging	Het
Or8g18	A	T	9: 39,149,667 (GRCm39)	S18T	probably benign	Het
Padi4	GCTGCGTACCTCCAC	GC	4: 140,475,760 (GRCm39)		probably benign	Het
Pi4ka	A	T	16: 17,125,582 (GRCm39)	N4K	possibly damaging	Het
Plxna4	A	T	6: 32,134,950 (GRCm39)	I1751N	probably damaging	Het
Postn	C	A	3: 54,274,997 (GRCm39)	S122*	probably null	Het
Ppp4r4	A	T	12: 103,579,074 (GRCm39)	R762*	probably null	Het
Rrm1	G	T	7: 102,116,274 (GRCm39)		probably null	Het
Rrp15	A	G	1: 186,468,431 (GRCm39)	V195A	probably benign	Het
Rtl1	T	A	12: 109,558,089 (GRCm39)	D1250V	probably damaging	Het
Rxrg	T	C	1: 167,458,788 (GRCm39)		probably benign	Het
Scn10a	T	C	9: 119,494,994 (GRCm39)	K416E	probably benign	Het
Serping1	T	C	2: 84,600,425 (GRCm39)		probably benign	Het
Slc12a6	T	C	2: 112,166,269 (GRCm39)		probably null	Het
Smo	A	T	6: 29,759,585 (GRCm39)	Q639L	possibly damaging	Het
Synrg	T	C	11: 83,873,014 (GRCm39)		probably benign	Het
Tars2	T	C	3: 95,649,971 (GRCm39)	D470G	probably damaging	Het
Tln1	T	C	4: 43,542,709 (GRCm39)	N1399S	possibly damaging	Het
Tmem131	A	G	1: 36,877,119 (GRCm39)	V240A	probably damaging	Het
Tmem232	G	A	17: 65,689,615 (GRCm39)	T500I	probably benign	Het
Toporsl	G	A	4: 52,612,140 (GRCm39)	V678M	possibly damaging	Het
Vmn1r7	A	T	6: 57,002,066 (GRCm39)	F65I	probably damaging	Het
Wdfy4	C	T	14: 32,764,578 (GRCm39)	M2257I	probably benign	Het
Wdr20rt	T	A	12: 65,274,089 (GRCm39)	D344E	probably benign	Het
Xirp2	C	T	2: 67,344,758 (GRCm39)	A2333V	probably benign	Het
Zfyve16	T	C	13: 92,631,452 (GRCm39)	K1381R	probably benign	Het

Other mutations in Zscan18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01930:Zscan18	APN	7	12,509,275 (GRCm39)	unclassified	probably benign
IGL02152:Zscan18	APN	7	12,509,223 (GRCm39)	unclassified	probably benign
IGL02236:Zscan18	APN	7	12,503,251 (GRCm39)	missense	probably benign	0.02
IGL02591:Zscan18	APN	7	12,509,206 (GRCm39)	unclassified	probably benign
IGL02619:Zscan18	APN	7	12,508,793 (GRCm39)	unclassified	probably benign
IGL02711:Zscan18	APN	7	12,509,044 (GRCm39)	unclassified	probably benign
IGL03397:Zscan18	APN	7	12,507,488 (GRCm39)	missense	probably damaging	0.97
R0014:Zscan18	UTSW	7	12,503,344 (GRCm39)	missense	possibly damaging	0.48
R0465:Zscan18	UTSW	7	12,509,413 (GRCm39)	unclassified	probably benign
R1506:Zscan18	UTSW	7	12,508,129 (GRCm39)	missense	probably damaging	1.00
R1725:Zscan18	UTSW	7	12,504,784 (GRCm39)	missense	probably damaging	1.00
R2323:Zscan18	UTSW	7	12,509,386 (GRCm39)	unclassified	probably benign
R5034:Zscan18	UTSW	7	12,508,072 (GRCm39)	missense	probably damaging	1.00
R5180:Zscan18	UTSW	7	12,509,216 (GRCm39)	unclassified	probably benign
R5579:Zscan18	UTSW	7	12,509,308 (GRCm39)	unclassified	probably benign
R5635:Zscan18	UTSW	7	12,504,791 (GRCm39)	missense	probably benign	0.00
R5708:Zscan18	UTSW	7	12,508,383 (GRCm39)	missense	probably benign	0.01
R6088:Zscan18	UTSW	7	12,509,125 (GRCm39)	unclassified	probably benign
R6320:Zscan18	UTSW	7	12,509,147 (GRCm39)	unclassified	probably benign
R7048:Zscan18	UTSW	7	12,508,671 (GRCm39)	unclassified	probably benign
R7610:Zscan18	UTSW	7	12,503,237 (GRCm39)	missense	probably damaging	0.98
R7683:Zscan18	UTSW	7	12,503,532 (GRCm39)	nonsense	probably null
R8287:Zscan18	UTSW	7	12,509,298 (GRCm39)	missense	unknown
R8674:Zscan18	UTSW	7	12,504,827 (GRCm39)	splice site	probably benign
R8735:Zscan18	UTSW	7	12,503,625 (GRCm39)	missense	probably benign	0.16
R8928:Zscan18	UTSW	7	12,509,120 (GRCm39)	nonsense	probably null
R9028:Zscan18	UTSW	7	12,506,116 (GRCm39)	intron	probably benign
R9290:Zscan18	UTSW	7	12,508,054 (GRCm39)	missense	probably damaging	0.99
R9342:Zscan18	UTSW	7	12,505,612 (GRCm39)	missense	probably damaging	1.00
R9471:Zscan18	UTSW	7	12,508,343 (GRCm39)	missense	possibly damaging	0.70
R9522:Zscan18	UTSW	7	12,503,297 (GRCm39)	missense	possibly damaging	0.91
R9631:Zscan18	UTSW	7	12,505,657 (GRCm39)	missense	possibly damaging	0.90
RF055:Zscan18	UTSW	7	12,508,352 (GRCm39)	small deletion	probably benign
Z1088:Zscan18	UTSW	7	12,509,020 (GRCm39)	unclassified	probably benign
Z1088:Zscan18	UTSW	7	12,508,994 (GRCm39)	missense	probably benign	0.18

Predicted Primers

PCR Primer
(F):5'- ATGGACCCAAAGTATGGCCTGAGC -3'
(R):5'- CATCACTGAGAGATCTGCTGCTGAC -3'

Sequencing Primer
(F):5'- gaaagcaaatgtgagggcag -3'
(R):5'- CCGGGAGTTTGTCTACCAG -3'

Posted On

2013-06-11