Mutagenetix > Incidental Mutations

Incidental Mutation 'R0257:St18'

34763

Institutional Source

Beutler Lab

Gene Symbol

St18

Ensembl Gene

ENSMUSG00000033740

Gene Name

suppression of tumorigenicity 18

Synonyms

Nzf3, Myt3

MMRRC Submission

038488-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0257 (G1)

Quality Score

161

Status

Validated

Chromosome

Chromosomal Location

6487231-6860940 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 6819962 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 539 (F539L)

Ref Sequence

ENSEMBL: ENSMUSP00000131417 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043578] [ENSMUST00000131494] [ENSMUST00000140079] [ENSMUST00000150761] [ENSMUST00000151281] [ENSMUST00000163727]

Predicted Effect

probably benign
Transcript: ENSMUST00000043578
AA Change: F539L

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000042056
Gene: ENSMUSG00000033740
AA Change: F539L

Domain	Start	End	E-Value	Type
low complexity region	188	198	N/A	INTRINSIC
Pfam:zf-C2HC	365	392	7.8e-15	PFAM
Pfam:zf-C2HC	409	437	4.2e-17	PFAM
Pfam:MYT1	476	713	1.3e-75	PFAM
Pfam:zf-C2HC	721	749	4e-19	PFAM
Pfam:zf-C2HC	765	793	1.7e-19	PFAM
Pfam:zf-C2HC	813	841	1.1e-17	PFAM
Pfam:zf-C2HC	866	893	9.1e-15	PFAM
coiled coil region	918	987	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000131494
AA Change: F539L

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000117789
Gene: ENSMUSG00000033740
AA Change: F539L

Domain	Start	End	E-Value	Type
low complexity region	188	198	N/A	INTRINSIC
Pfam:zf-C2HC	363	393	2.6e-17	PFAM
Pfam:zf-C2HC	407	437	1e-18	PFAM
Pfam:MYT1	476	714	1.5e-116	PFAM
Pfam:zf-C2HC	719	749	1e-19	PFAM
Pfam:zf-C2HC	763	793	1.3e-20	PFAM
Pfam:zf-C2HC	811	841	8.9e-19	PFAM
Pfam:zf-C2HC	864	894	1.3e-16	PFAM
coiled coil region	918	987	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000140079
AA Change: F539L

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000118322
Gene: ENSMUSG00000033740
AA Change: F539L

Domain	Start	End	E-Value	Type
low complexity region	188	198	N/A	INTRINSIC
Pfam:zf-C2HC	363	393	2.6e-17	PFAM
Pfam:zf-C2HC	407	437	1e-18	PFAM
Pfam:MYT1	476	714	1.5e-116	PFAM
Pfam:zf-C2HC	719	749	1e-19	PFAM
Pfam:zf-C2HC	763	793	1.3e-20	PFAM
Pfam:zf-C2HC	811	841	8.9e-19	PFAM
Pfam:zf-C2HC	864	894	1.3e-16	PFAM
coiled coil region	918	987	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142304

Predicted Effect

probably benign
Transcript: ENSMUST00000150761
AA Change: F539L

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000120298
Gene: ENSMUSG00000033740
AA Change: F539L

Domain	Start	End	E-Value	Type
low complexity region	188	198	N/A	INTRINSIC
Pfam:zf-C2HC	363	393	2.6e-17	PFAM
Pfam:zf-C2HC	407	437	1e-18	PFAM
Pfam:MYT1	476	714	1.5e-116	PFAM
Pfam:zf-C2HC	719	749	1e-19	PFAM
Pfam:zf-C2HC	763	793	1.3e-20	PFAM
Pfam:zf-C2HC	811	841	8.9e-19	PFAM
Pfam:zf-C2HC	864	894	1.3e-16	PFAM
coiled coil region	918	987	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000151281
AA Change: F539L

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000122055
Gene: ENSMUSG00000033740
AA Change: F539L

Domain	Start	End	E-Value	Type
low complexity region	188	198	N/A	INTRINSIC
Pfam:zf-C2HC	363	393	2.6e-17	PFAM
Pfam:zf-C2HC	407	437	1e-18	PFAM
Pfam:MYT1	476	714	1.5e-116	PFAM
Pfam:zf-C2HC	719	749	1e-19	PFAM
Pfam:zf-C2HC	763	793	1.3e-20	PFAM
Pfam:zf-C2HC	811	841	8.9e-19	PFAM
Pfam:zf-C2HC	864	894	1.3e-16	PFAM
coiled coil region	918	987	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000163727
AA Change: F539L

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000131417
Gene: ENSMUSG00000033740
AA Change: F539L

Domain	Start	End	E-Value	Type
low complexity region	188	198	N/A	INTRINSIC
Pfam:zf-C2HC	365	392	7.8e-15	PFAM
Pfam:zf-C2HC	409	437	4.2e-17	PFAM
Pfam:MYT1	476	713	1.3e-75	PFAM
Pfam:zf-C2HC	721	749	4e-19	PFAM
Pfam:zf-C2HC	765	793	1.7e-19	PFAM
Pfam:zf-C2HC	813	841	1.1e-17	PFAM
Pfam:zf-C2HC	866	893	9.1e-15	PFAM
coiled coil region	918	987	N/A	INTRINSIC

Meta Mutation Damage Score

0.1045

Coding Region Coverage

1x: 98.5%
3x: 97.5%
10x: 95.7%
20x: 92.2%

Validation Efficiency

99% (67/68)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700061G19Rik	T	A	17: 56,885,169	Y577*	probably null	Het
Aatf	T	A	11: 84,510,281	E171D	probably benign	Het
Adgre5	T	A	8: 83,731,995	H134L	possibly damaging	Het
Ahsg	A	T	16: 22,899,040	M256L	probably benign	Het
Alk	A	T	17: 72,603,495	L72Q	probably damaging	Het
Ano2	C	A	6: 125,880,713	A505E	probably benign	Het
Bcas3	A	G	11: 85,822,039	K908E	probably benign	Het
C3ar1	A	G	6: 122,850,787	V157A	probably benign	Het
Car2	C	G	3: 14,899,977	H224D	probably benign	Het
Cfh	T	C	1: 140,144,035	D287G	probably benign	Het
Disp3	G	T	4: 148,250,754	N944K	possibly damaging	Het
Dlg1	A	G	16: 31,842,853		probably benign	Het
Dmbt1	A	G	7: 131,106,393	E1281G	probably damaging	Het
Dmxl1	T	A	18: 49,955,803		probably benign	Het
Dtx3	T	C	10: 127,192,892	D159G	probably benign	Het
Ets2	T	A	16: 95,712,201	C140*	probably null	Het
Fbf1	T	C	11: 116,155,091	I226V	probably benign	Het
Fgd6	T	A	10: 94,043,915	H210Q	probably benign	Het
Fktn	A	G	4: 53,734,898	T179A	probably benign	Het
Galnt10	T	C	11: 57,781,078	M398T	probably damaging	Het
Grk5	G	T	19: 61,076,630		probably benign	Het
Gse1	A	G	8: 120,572,334		probably benign	Het
Hmcn2	T	C	2: 31,369,164		probably benign	Het
Iqgap2	A	G	13: 95,724,544		probably null	Het
Lama4	T	C	10: 39,094,884		probably benign	Het
Luzp2	A	G	7: 55,249,446	T271A	probably benign	Het
Mdn1	T	A	4: 32,693,534	V1053D	probably damaging	Het
Mrm1	A	C	11: 84,814,823		probably benign	Het
Msh5	G	C	17: 35,032,864	R407G	probably damaging	Het
Myo1c	A	T	11: 75,665,516		probably null	Het
Nek5	T	C	8: 22,123,672		probably benign	Het
Nrxn2	A	G	19: 6,490,698	I894V	possibly damaging	Het
Olfr372	C	T	8: 72,058,400	T240M	probably damaging	Het
Pde4a	C	T	9: 21,192,421	P175L	probably damaging	Het
Pip5k1c	C	A	10: 81,315,096	A628E	possibly damaging	Het
Piwil2	C	T	14: 70,422,631	S139N	probably benign	Het
Prob1	T	C	18: 35,653,039	K721E	possibly damaging	Het
Rps6ka2	C	A	17: 7,227,983	S57Y	probably damaging	Het
Rxfp1	C	T	3: 79,682,535	V100M	possibly damaging	Het
Serpinb9e	A	T	13: 33,257,681	M199L	probably benign	Het
Slc17a3	C	T	13: 23,855,858	S293F	probably damaging	Het
Slc4a8	G	A	15: 100,784,880		probably benign	Het
Sned1	A	T	1: 93,265,097	S369C	possibly damaging	Het
Stam2	C	T	2: 52,694,782	G500D	possibly damaging	Het
Stx16	G	A	2: 174,096,961	V307M	probably benign	Het
Svep1	G	A	4: 58,179,610	S211L	possibly damaging	Het
Tcf12	C	T	9: 71,858,622	S512N	probably benign	Het
Tiam2	T	C	17: 3,450,813	V909A	possibly damaging	Het
Tmem64	C	T	4: 15,266,343	A131V	probably damaging	Het
Tnrc6b	C	A	15: 80,894,355	N1176K	possibly damaging	Het
Trrap	C	T	5: 144,804,235	S1264L	probably benign	Het
Ttn	T	A	2: 76,810,431	T13658S	possibly damaging	Het
Vmn2r104	G	A	17: 20,029,627	T794I	probably damaging	Het
Vmn2r52	T	A	7: 10,171,055	R286*	probably null	Het
Vps53	A	T	11: 76,177,385		probably benign	Het
Wdr18	A	G	10: 79,961,119		probably benign	Het
Wdr31	A	G	4: 62,460,518		probably null	Het
Zfp458	T	A	13: 67,259,642	K47*	probably null	Het
Zfp983	A	G	17: 21,661,440	T95A	probably benign	Het

Other mutations in St18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00089:St18	APN	1	6802572	missense	probably benign	0.07
IGL00840:St18	APN	1	6833594	missense	probably damaging	1.00
IGL01016:St18	APN	1	6844323	missense	probably damaging	0.98
IGL01116:St18	APN	1	6802632	missense	probably damaging	0.96
IGL01719:St18	APN	1	6845796	splice site	probably benign
IGL01885:St18	APN	1	6844372	critical splice donor site	probably null
IGL02486:St18	APN	1	6820083	missense	probably damaging	1.00
IGL02611:St18	APN	1	6768890	splice site	probably benign
IGL02742:St18	APN	1	6802316	splice site	probably benign
IGL02953:St18	APN	1	6844113	splice site	probably benign
IGL02999:St18	APN	1	6817605	missense	probably benign	0.01
IGL03092:St18	APN	1	6768894	splice site	probably benign
Smallish	UTSW	1	6855473	critical splice donor site	probably null
IGL03055:St18	UTSW	1	6802735	missense	probably damaging	0.99
R0089:St18	UTSW	1	6848948	missense	probably benign	0.02
R0383:St18	UTSW	1	6803024	missense	probably damaging	1.00
R0588:St18	UTSW	1	6817738	missense	probably damaging	0.99
R0989:St18	UTSW	1	6827881	missense	probably benign	0.04
R1068:St18	UTSW	1	6795562	missense	probably benign	0.01
R1311:St18	UTSW	1	6845644	missense	probably damaging	1.00
R1530:St18	UTSW	1	6845569	critical splice acceptor site	probably null
R1723:St18	UTSW	1	6810685	splice site	probably benign
R1926:St18	UTSW	1	6802689	missense	probably benign	0.00
R1927:St18	UTSW	1	6802712	missense	probably benign	0.00
R2035:St18	UTSW	1	6802328	missense	probably benign	0.00
R2091:St18	UTSW	1	6827971	missense	probably benign	0.08
R2139:St18	UTSW	1	6810615	missense	possibly damaging	0.85
R2261:St18	UTSW	1	6845572	missense	probably damaging	0.96
R2300:St18	UTSW	1	6855402	missense	probably damaging	1.00
R2322:St18	UTSW	1	6844124	nonsense	probably null
R2846:St18	UTSW	1	6845587	missense	probably damaging	0.96
R3738:St18	UTSW	1	6855473	critical splice donor site	probably null
R3739:St18	UTSW	1	6855473	critical splice donor site	probably null
R3772:St18	UTSW	1	6844329	missense	probably damaging	1.00
R3805:St18	UTSW	1	6802353	missense	probably damaging	1.00
R3953:St18	UTSW	1	6802893	missense	probably damaging	0.99
R4034:St18	UTSW	1	6855473	critical splice donor site	probably null
R4036:St18	UTSW	1	6827786	missense	probably damaging	1.00
R4407:St18	UTSW	1	6827837	missense	probably benign	0.29
R4527:St18	UTSW	1	6855423	missense	probably damaging	1.00
R4740:St18	UTSW	1	6817604	missense	probably benign
R4838:St18	UTSW	1	6802905	missense	probably benign	0.01
R5182:St18	UTSW	1	6817653	missense	probably benign	0.03
R5186:St18	UTSW	1	6802317	splice site	probably null
R5354:St18	UTSW	1	6844171	missense	probably damaging	1.00
R5423:St18	UTSW	1	6802616	missense	possibly damaging	0.91
R5724:St18	UTSW	1	6770950	missense	probably benign	0.13
R6182:St18	UTSW	1	6844118	splice site	probably null
R6491:St18	UTSW	1	6827985	nonsense	probably null
R6503:St18	UTSW	1	6795397	missense	probably damaging	1.00
R7037:St18	UTSW	1	6803036	missense	possibly damaging	0.65
R7098:St18	UTSW	1	6827842	missense	probably damaging	1.00
R7132:St18	UTSW	1	6859127	missense
R7144:St18	UTSW	1	6833594	missense	probably damaging	1.00
R7150:St18	UTSW	1	6803019	missense	probably damaging	1.00
R7334:St18	UTSW	1	6802559	missense	probably benign	0.00
R7502:St18	UTSW	1	6827970	missense	probably benign	0.09
R7729:St18	UTSW	1	6802537	missense	probably benign	0.00
R7848:St18	UTSW	1	6857445	critical splice donor site	probably null
R8088:St18	UTSW	1	6828005	missense	probably benign	0.00
R8299:St18	UTSW	1	6802992	missense	probably benign	0.01
R8338:St18	UTSW	1	6809292	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TATGAGAGCAGGCACACTCCCAAG -3'
(R):5'- CCATGAACGGACGCAGTTGAGAAC -3'

Sequencing Primer
(F):5'- CTTAAGAGAATAGGCCCCTTTCATC -3'
(R):5'- GAACATGAAAGGCAGTTGATTCTC -3'

Posted On

2013-05-09