Mutagenetix > Incidental Mutation

Incidental Mutation 'R7144:St18'

553588

Institutional Source

Beutler Lab

Gene Symbol

St18

Ensembl Gene

ENSMUSG00000033740

Gene Name

suppression of tumorigenicity 18

Synonyms

Nzf3, Myt3

MMRRC Submission

045328-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7144 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

6487231-6860940 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 6833594 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Alanine at position 693 (E693A)

Ref Sequence

ENSEMBL: ENSMUSP00000042056 (fasta)

Gene Model

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

AlphaFold

Q80TY4

Predicted Effect

probably damaging
Transcript: ENSMUST00000043578
AA Change: E693A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000042056
Gene: ENSMUSG00000033740
AA Change: E693A

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 damaging
Transcript: ENSMUST00000131494
AA Change: E693A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000117789
Gene: ENSMUSG00000033740
AA Change: E693A

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 damaging
Transcript: ENSMUST00000140079
AA Change: E693A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000118322
Gene: ENSMUSG00000033740
AA Change: E693A

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 damaging
Transcript: ENSMUST00000150761
AA Change: E693A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000120298
Gene: ENSMUSG00000033740
AA Change: E693A

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 damaging
Transcript: ENSMUST00000151281
AA Change: E693A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000122055
Gene: ENSMUSG00000033740
AA Change: E693A

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 damaging
Transcript: ENSMUST00000163727
AA Change: E693A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000131417
Gene: ENSMUSG00000033740
AA Change: E693A

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: 99.8%
20x: 99.3%

Validation Efficiency

99% (95/96)

Allele List at MGI

Other mutations in this stock

Total: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	A	T	7: 120,433,573	I272F	possibly damaging	Het
Adcy10	G	T	1: 165,510,370	M184I	probably benign	Het
Aldoa	G	T	7: 126,796,862	T124N	possibly damaging	Het
Ap4e1	T	A	2: 127,011,807	I55N	probably damaging	Het
Arhgap21	T	C	2: 20,865,387	T913A	probably benign	Het
Atrnl1	G	A	19: 58,042,352	E1309K	probably damaging	Het
BC034090	A	T	1: 155,242,031	C114S	probably damaging	Het
Brinp2	A	G	1: 158,295,424		probably null	Het
Ccna1	G	T	3: 55,045,699	H408Q	probably benign	Het
Cd209g	T	G	8: 4,135,189		probably benign	Het
Cdc20b	A	G	13: 113,083,371	I433V	probably benign	Het
Cdk2ap1	G	A	5: 124,354,358	P5L	probably damaging	Het
Cep128	T	C	12: 91,294,159	E310G	probably damaging	Het
Cflar	G	T	1: 58,753,848	V458F		Het
Clec4b2	A	G	6: 123,181,384	T70A	probably benign	Het
Cntnap5c	A	G	17: 58,286,888	T741A	probably benign	Het
Csf3r	A	T	4: 126,043,722	T800S	probably benign	Het
Csnk1g2	T	C	10: 80,637,899	Y67H	probably damaging	Het
Cyp2c67	A	T	19: 39,615,694	V406E	probably benign	Het
Dnah10	A	G	5: 124,822,942	D3868G	probably damaging	Het
Dnah7a	A	T	1: 53,698,708		probably null	Het
Dst	A	G	1: 34,152,243	N208S	probably damaging	Het
Echdc3	A	G	2: 6,206,413		probably null	Het
Edrf1	T	C	7: 133,637,849	S13P	probably benign	Het
Ephb1	T	C	9: 101,964,077	Y734C	probably damaging	Het
Eps8l1	A	G	7: 4,472,185	Y325C	probably damaging	Het
Evc2	A	G	5: 37,386,839	D644G	probably damaging	Het
Eya4	A	C	10: 23,173,045	D54E	probably benign	Het
Filip1	T	C	9: 79,820,213	S375G	possibly damaging	Het
Fmo9	A	G	1: 166,677,620	M68T	probably benign	Het
Gemin5	G	C	11: 58,141,663	P772A	probably benign	Het
Gle1	T	G	2: 29,943,793	C401G	probably damaging	Het
Gm14548	A	G	7: 3,897,616	V45A	probably damaging	Het
Gm7298	A	T	6: 121,761,587	I376F	probably damaging	Het
Gpr35	A	C	1: 92,982,631	I22L	probably benign	Het
Grin2b	T	G	6: 135,733,476	D1024A	possibly damaging	Het
Hmcn1	T	C	1: 150,663,873	N2956D	probably damaging	Het
Htt	T	C	5: 34,846,006	L1275P	probably damaging	Het
Ibtk	T	C	9: 85,743,691	D2G	probably benign	Het
Il16	T	A	7: 83,646,451	D1170V	probably damaging	Het
Iqgap3	T	A	3: 88,116,910	I1513N	probably damaging	Het
Kiz	T	G	2: 146,950,510		probably null	Het
Krt12	A	T	11: 99,416,013	*488K	probably null	Het
Lap3	A	T	5: 45,496,948	T83S	probably benign	Het
Lars2	T	A	9: 123,431,993	S410T	probably damaging	Het
Limch1	A	G	5: 67,017,658	T518A	probably benign	Het
Lrrc49	A	T	9: 60,615,156	S381T	probably damaging	Het
Lrrk2	A	G	15: 91,734,055	D919G	possibly damaging	Het
Mmp1a	A	T	9: 7,475,318	S363C	probably damaging	Het
Mrps22	A	C	9: 98,601,471		probably null	Het
Mybpc3	T	C	2: 91,134,604	I1066T	probably benign	Het
Myo10	A	T	15: 25,723,925	N215I	probably damaging	Het
Myocd	A	C	11: 65,218,648	L99R	probably damaging	Het
Nadk	T	G	4: 155,589,336	I394S	probably damaging	Het
Nadsyn1	T	C	7: 143,811,215	N251S	probably damaging	Het
Nbeal1	G	C	1: 60,237,151	V684L	probably benign	Het
Ncapd2	G	A	6: 125,176,670	P694L	probably benign	Het
Olfr1101	G	T	2: 86,988,820	R119S	probably damaging	Het
Olfr1243	T	C	2: 89,527,557	I284M	probably damaging	Het
Olfr317	A	C	11: 58,732,745	L140R	probably damaging	Het
Olfr705	T	A	7: 106,873,868	I126F	probably damaging	Het
Pcdhb13	T	A	18: 37,443,256	I229K	probably damaging	Het
Pgbd5	A	T	8: 124,374,317	M400K	possibly damaging	Het
Phactr3	A	G	2: 178,302,736	N409S	probably damaging	Het
Pik3c2g	C	A	6: 139,629,870	P305Q	probably damaging	Het
Pik3r4	G	A	9: 105,650,584	V379M	probably damaging	Het
Pkd1l2	A	T	8: 117,076,131	C250*	probably null	Het
Pramef17	A	C	4: 143,991,533	S447A	probably benign	Het
Rapgef6	A	C	11: 54,657,365	T792P	possibly damaging	Het
Rexo5	A	G	7: 119,805,191	D170G	probably damaging	Het
Rnf17	G	A	14: 56,512,332		probably null	Het
Sept11	A	G	5: 93,156,866	I181V	probably benign	Het
Serpina1e	T	G	12: 103,947,018	*414C	probably null	Het
Serpine1	C	A	5: 137,071,064	Q80H	probably damaging	Het
Sh3bp2	A	G	5: 34,561,631	N560S	probably benign	Het
Slc25a25	A	G	2: 32,419,166	F221S	probably damaging	Het
Spag17	G	T	3: 100,027,401		probably null	Het
Sspn	T	C	6: 145,961,155	L104P	probably damaging	Het
St6galnac3	T	C	3: 153,411,532	I185V	possibly damaging	Het
St8sia1	T	C	6: 142,876,669	D156G	probably damaging	Het
Syne2	C	A	12: 76,005,378	S4092R	probably benign	Het
Tll1	T	A	8: 64,124,945	D76V	possibly damaging	Het
Tmco1	C	T	1: 167,308,453		probably benign	Het
Tnfaip3	T	A	10: 19,007,281	T179S	probably benign	Het
Trav16	T	C	14: 53,743,639	I95T	possibly damaging	Het
Trip12	A	T	1: 84,793,714	S280T	probably damaging	Het
Unc79	A	G	12: 103,142,626	M2166V	probably benign	Het
Vmn2r1	A	G	3: 64,089,941	I339M	probably damaging	Het
Vwa5b1	A	G	4: 138,605,431		probably null	Het
Washc4	A	T	10: 83,573,774		probably null	Het
Wisp1	T	A	15: 66,913,030	V184E	probably damaging	Het
Wiz	A	G	17: 32,357,628	S642P	possibly damaging	Het
Zeb2	T	A	2: 45,110,041	K60N	possibly damaging	Het
Zfat	T	A	15: 68,178,782	T797S	probably benign	Het
Zfp74	T	C	7: 29,935,165	K373E	probably damaging	Het
Zswim5	T	C	4: 116,975,976		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
R7132:St18	UTSW	1	6859127	missense
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
R8690:St18	UTSW	1	6802564	missense	probably benign
R8753:St18	UTSW	1	6845791	missense	probably damaging	1.00
R8808:St18	UTSW	1	6810602	missense	probably damaging	1.00
R8880:St18	UTSW	1	6795395	nonsense	probably null
R9055:St18	UTSW	1	6802982	nonsense	probably null
R9292:St18	UTSW	1	6827882	missense	probably benign	0.32
R9322:St18	UTSW	1	6795523	missense	probably benign	0.00
R9530:St18	UTSW	1	6802773	missense	probably benign	0.00
R9603:St18	UTSW	1	6845587	missense	probably damaging	1.00
R9611:St18	UTSW	1	6802923	missense	probably benign	0.00
R9639:St18	UTSW	1	6859022	missense
R9644:St18	UTSW	1	6859052	missense
R9740:St18	UTSW	1	6803063	nonsense	probably null
R9750:St18	UTSW	1	6802992	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GCCATGTCTTAAAGCCAAACTC -3'
(R):5'- TTTGGAAGCTCCTGTAGTGCAG -3'

Sequencing Primer
(F):5'- TCAAACCTGACACCAGTAGTTTC -3'
(R):5'- AGCTCCTGTAGTGCAGAGCTG -3'

Posted On

2019-05-15