Mutagenetix > Incidental Mutations

Incidental Mutation 'R7132:St18'

552716

Institutional Source

Beutler Lab

Gene Symbol

St18

Ensembl Gene

ENSMUSG00000033740

Gene Name

suppression of tumorigenicity 18

Synonyms

Nzf3, Myt3

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7132 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

6487231-6860940 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 6859127 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 81 (H81L)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000043578

SMART Domains

Protein: ENSMUSP00000042056
Gene: ENSMUSG00000033740

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

SMART Domains

Protein: ENSMUSP00000117789
Gene: ENSMUSG00000033740

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

SMART Domains

Protein: ENSMUSP00000118322
Gene: ENSMUSG00000033740

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: ENSMUST00000150761

SMART Domains

Protein: ENSMUSP00000120298
Gene: ENSMUSG00000033740

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

SMART Domains

Protein: ENSMUSP00000122055
Gene: ENSMUSG00000033740

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

SMART Domains

Protein: ENSMUSP00000131417
Gene: ENSMUSG00000033740

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ank3	C	T	10: 69,989,914	A1471V		Het
Ankrd12	C	A	17: 65,983,247	M1730I	probably benign	Het
Ap2a2	T	C	7: 141,619,565	Y462H	probably benign	Het
Ap5b1	T	A	19: 5,569,384	Y277*	probably null	Het
App	T	C	16: 85,056,482	D236G	unknown	Het
Arid2	A	T	15: 96,350,013	K102I	possibly damaging	Het
Asl	A	G	5: 130,014,702	V211A	possibly damaging	Het
Card6	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	15: 5,098,691		probably benign	Het
Cbx2	A	G	11: 119,023,121	S5G	probably benign	Het
Ccdc183	A	G	2: 25,616,530		probably null	Het
Cd72	T	C	4: 43,452,444	Q183R	possibly damaging	Het
Cdh26	T	A	2: 178,486,762	D702E	possibly damaging	Het
Cfap61	A	T	2: 146,109,950	N784I	probably damaging	Het
Cgrrf1	G	A	14: 46,853,864	V282M	probably damaging	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 104,309,470		probably benign	Het
Cobll1	T	G	2: 65,133,768	K170Q	probably damaging	Het
Copg2	A	T	6: 30,815,996	V468D	probably benign	Het
Cracr2b	C	T	7: 141,463,738	A84V	probably benign	Het
Cyp2f2	A	T	7: 27,132,568	D416V	probably benign	Het
Dcaf10	T	C	4: 45,342,391	F75S	probably benign	Het
Eml3	G	T	19: 8,941,028	A829S	probably benign	Het
Entpd3	A	G	9: 120,561,020	T402A	probably benign	Het
Fer1l4	A	T	2: 156,045,626	V550E	probably damaging	Het
Fgb	G	A	3: 83,046,746	R62*	probably null	Het
Fubp1	T	A	3: 152,232,024		probably null	Het
Gdf3	A	C	6: 122,606,324	D361E	probably damaging	Het
Gm6685	A	T	11: 28,339,330	I162N	probably damaging	Het
Hmx2	A	G	7: 131,555,916	Y253C	probably damaging	Het
Ints2	G	T	11: 86,217,754	N922K	probably benign	Het
Ipo7	C	T	7: 110,054,047	L984F	probably benign	Het
Itgae	A	T	11: 73,111,358	Y96F	possibly damaging	Het
Kalrn	A	G	16: 34,256,227	V697A	unknown	Het
Kctd18	G	A	1: 57,967,578	R38*	probably null	Het
Kdm5b	A	G	1: 134,599,106	D322G	probably damaging	Het
Ldb3	A	G	14: 34,577,035	Y211H	probably benign	Het
Limch1	T	C	5: 66,953,685	F85S	probably damaging	Het
Lrrn4	A	T	2: 132,879,693	L68*	probably null	Het
Lrwd1	A	G	5: 136,123,275	V616A	possibly damaging	Het
Nars	A	G	18: 64,507,770		probably null	Het
Nradd	T	C	9: 110,622,261	D13G	probably benign	Het
Oacyl	A	T	18: 65,698,409	N39I	probably damaging	Het
Olfr1499	T	A	19: 13,815,422	Q56L	probably benign	Het
Onecut2	A	T	18: 64,340,912	H178L	possibly damaging	Het
Pcdhga4	A	C	18: 37,687,377	T660P	probably damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398		probably benign	Het
Pitpnm3	T	A	11: 72,051,276	I902F	possibly damaging	Het
Plod3	T	C	5: 136,995,117	L180S		Het
Prrc2c	A	T	1: 162,681,281	H2354Q	possibly damaging	Het
Pth2r	A	G	1: 65,322,066	E58G	probably benign	Het
Rev1	G	T	1: 38,071,449	D573E	possibly damaging	Het
Sec24a	A	T	11: 51,715,136	L696*	probably null	Het
Serpinb3c	A	G	1: 107,276,951	S22P	probably damaging	Het
Stard9	A	T	2: 120,679,378	K266*	probably null	Het
Stip1	C	T	19: 7,021,810	G467S	possibly damaging	Het
Syne1	G	A	10: 5,243,180	A3956V	probably damaging	Het
Tcp10a	C	T	17: 7,344,952	T381I	probably benign	Het
Tecpr2	T	A	12: 110,915,372	V125D	probably damaging	Het
Tmc2	T	C	2: 130,232,409	S341P	possibly damaging	Het
Tmem190	G	A	7: 4,784,225	V143I	probably benign	Het
Trap1	A	G	16: 4,055,829	Y288H	probably benign	Het
Trim39	T	C	17: 36,260,655	T404A	probably benign	Het
Ttn	T	A	2: 76,745,699	K24950I	probably damaging	Het
Ttn	G	T	2: 76,944,352	N2161K	unknown	Het
Unc13b	T	C	4: 43,215,757	S19P	probably benign	Het
Uqcrc1	T	A	9: 108,949,468	I471N	probably damaging	Het
Wbp11	T	C	6: 136,821,542	T170A	probably benign	Het
Wnk4	A	G	11: 101,261,200	I177V	probably benign	Het
Zfp455	C	A	13: 67,199,166	P51T	probably damaging	Het
Zfp946	T	C	17: 22,454,663	Y133H	probably benign	Het
Zfp955a	A	T	17: 33,241,615	Y514*	probably null	Het
Zzef1	T	C	11: 72,917,871		probably null	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
R0257:St18	UTSW	1	6819962	missense	probably benign	0.04
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
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

Predicted Primers

PCR Primer
(F):5'- ATCTGCAGGGGCCTAATACC -3'
(R):5'- CTGCAGCCATGTGGAATACTATG -3'

Sequencing Primer
(F):5'- TTTTCCCCAGCTGACATAAAAAGG -3'
(R):5'- CAGCCATGTGGAATACTATGCTGAC -3'

Posted On

2019-05-15