Mutagenetix > Incidental Mutation

Incidental Mutation 'R9290:Zscan18'

704212

Institutional Source

Beutler Lab

Gene Symbol

Zscan18

Ensembl Gene

ENSMUSG00000070822

Gene Name

zinc finger and SCAN domain containing 18

Synonyms

EG232875

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9290 (G1)

Quality Score

182.009

Status

Validated

Chromosome

Chromosomal Location

12502017-12537562 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 12508054 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 482 (I482N)

Ref Sequence

ENSEMBL: ENSMUSP00000047088 (fasta)

Gene Model

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

AlphaFold

E9PUD6

Predicted Effect

probably damaging
Transcript: ENSMUST00000046245
AA Change: I482N

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000047088
Gene: ENSMUSG00000070822
AA Change: I482N

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

probably damaging
Transcript: ENSMUST00000210650
AA Change: I482N

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000211392
AA Change: I482N

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

Meta Mutation Damage Score

0.6329

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

99% (67/68)

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abl2	A	G	1: 156,457,538 (GRCm39)	K268R	probably damaging	Het
Acvr1	T	C	2: 58,338,330 (GRCm39)	D464G	probably damaging	Het
Adra1d	G	T	2: 131,403,898 (GRCm39)	T64K	probably benign	Het
Cct3	T	C	3: 88,216,536 (GRCm39)	V164A	probably benign	Het
Cdhr2	T	C	13: 54,882,009 (GRCm39)	V1153A	possibly damaging	Het
Cdkn2c	A	C	4: 109,518,512 (GRCm39)	Y147*	probably null	Het
Ces1g	A	T	8: 94,029,545 (GRCm39)	H562Q	probably benign	Het
Cfap221	A	G	1: 119,853,381 (GRCm39)	L771P	probably benign	Het
Chsy3	A	G	18: 59,542,928 (GRCm39)	M689V	probably benign	Het
Ciita	T	A	16: 10,326,513 (GRCm39)	S235T	probably damaging	Het
Cracdl	T	A	1: 37,663,634 (GRCm39)	R755W	probably damaging	Het
Dcdc2a	A	G	13: 25,386,313 (GRCm39)	K396E	probably benign	Het
Dgki	C	T	6: 37,276,780 (GRCm39)	C35Y	unknown	Het
Dnah11	C	T	12: 117,991,251 (GRCm39)	E2372K	probably damaging	Het
Dnai7	T	C	6: 145,148,688 (GRCm39)	E57G	unknown	Het
Eif3a	A	G	19: 60,765,221 (GRCm39)	V322A	probably damaging	Het
Foxp2	A	T	6: 15,197,120 (GRCm39)	Q54L	possibly damaging	Het
Garin2	T	A	12: 78,759,028 (GRCm39)	V116E	possibly damaging	Het
Gm19410	T	A	8: 36,269,386 (GRCm39)	C1074S	probably damaging	Het
Gtf3c3	T	G	1: 54,477,997 (GRCm39)	E26A	possibly damaging	Het
Hps5	T	C	7: 46,424,331 (GRCm39)	E514G	probably damaging	Het
Ide	A	T	19: 37,302,647 (GRCm39)	D154E		Het
Insm1	T	C	2: 146,065,273 (GRCm39)	V363A	probably benign	Het
Iqgap2	A	T	13: 95,886,523 (GRCm39)	M120K	probably damaging	Het
Kcnh5	T	A	12: 75,023,488 (GRCm39)	I527F	probably benign	Het
Lrtm2	A	G	6: 119,297,792 (GRCm39)	L83P	probably damaging	Het
Map1a	A	G	2: 121,131,014 (GRCm39)	E372G	probably damaging	Het
Mycbp2	A	T	14: 103,425,960 (GRCm39)	H2421Q	probably damaging	Het
Myh15	A	G	16: 48,997,375 (GRCm39)	E1731G	probably damaging	Het
Myt1	A	T	2: 181,437,667 (GRCm39)	H168L	probably benign	Het
Nxph4	A	T	10: 127,362,546 (GRCm39)	V115E	probably damaging	Het
Ofcc1	A	T	13: 40,433,802 (GRCm39)	I101N	possibly damaging	Het
Oog2	T	C	4: 143,923,015 (GRCm39)	F427L	probably benign	Het
Or4c115	A	G	2: 88,928,076 (GRCm39)	L65P	probably damaging	Het
Or4f14b	A	T	2: 111,774,967 (GRCm39)	I278N	possibly damaging	Het
Or5w11	A	G	2: 87,459,209 (GRCm39)	N18S	probably benign	Het
Or8b48	T	C	9: 38,493,334 (GRCm39)	S254P	probably damaging	Het
Or8g27	A	G	9: 39,129,531 (GRCm39)	R293G	probably damaging	Het
Otop1	T	G	5: 38,455,302 (GRCm39)	I232S	probably benign	Het
Pak6	G	A	2: 118,523,883 (GRCm39)	R346Q	probably damaging	Het
Pbk	A	T	14: 66,054,713 (GRCm39)	M282L	probably benign	Het
Pmpcb	T	C	5: 21,944,009 (GRCm39)		probably null	Het
Pou5f2	T	A	13: 78,173,585 (GRCm39)	W176R	probably damaging	Het
Prkra	G	T	2: 76,478,147 (GRCm39)	S18R	probably benign	Het
Prune2	G	T	19: 17,145,691 (GRCm39)	A2764S	probably benign	Het
Ptpdc1	A	T	13: 48,740,221 (GRCm39)	D403E	probably benign	Het
Pxylp1	T	C	9: 96,722,089 (GRCm39)	E54G	probably damaging	Het
Rap1gap	G	A	4: 137,446,222 (GRCm39)	A325T	probably damaging	Het
Raver2	G	A	4: 100,977,387 (GRCm39)		probably benign	Het
Rbpj	T	C	5: 53,810,745 (GRCm39)	V455A	probably damaging	Het
Rptor	A	T	11: 119,702,823 (GRCm39)	I397F	probably benign	Het
Sacs	G	A	14: 61,421,499 (GRCm39)	M148I	probably benign	Het
Sec16b	A	G	1: 157,373,816 (GRCm39)	Q496R	probably damaging	Het
Sned1	C	A	1: 93,199,385 (GRCm39)	C488*	probably null	Het
Snupn	G	T	9: 56,882,547 (GRCm39)	V187F	possibly damaging	Het
Sorcs2	T	C	5: 36,183,225 (GRCm39)	D1016G	probably damaging	Het
Spta1	T	C	1: 174,045,204 (GRCm39)	M1517T	possibly damaging	Het
Them4	G	T	3: 94,231,630 (GRCm39)	G156C	probably damaging	Het
Tnik	T	C	3: 28,675,124 (GRCm39)	S721P	probably benign	Het
Trpm8	T	C	1: 88,246,767 (GRCm39)	S26P	probably damaging	Het
Ube2e3	A	G	2: 78,750,324 (GRCm39)	I183M	probably damaging	Het
Uhrf2	A	G	19: 30,055,416 (GRCm39)	Y389C	probably damaging	Het
Utp4	T	A	8: 107,642,828 (GRCm39)	D495E	possibly damaging	Het
Vill	C	A	9: 118,890,562 (GRCm39)	N158K	probably benign	Het
Vmn1r219	G	A	13: 23,347,399 (GRCm39)	G196E	probably damaging	Het
Vmn2r101	C	T	17: 19,811,395 (GRCm39)	S493L	probably benign	Het
Vmn2r61	A	G	7: 41,915,385 (GRCm39)	T111A	probably benign	Het
Zbtb40	G	T	4: 136,745,529 (GRCm39)	A168E	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
R0548:Zscan18	UTSW	7	12,508,103 (GRCm39)	missense	probably damaging	1.00
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
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'- TTAAGAGCCTGGTACCTGCC -3'
(R):5'- TTCATGAGCTATGCCGCCAG -3'

Sequencing Primer
(F):5'- AGTGAGTGCCCTAGTCCATGAG -3'
(R):5'- TCCAAAGAGCAGATCCTG -3'

Posted On

2022-03-25