Mutagenetix > Incidental Mutation

Incidental Mutation 'R7037:St18'

546740

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 #

R7037 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

6487231-6860940 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 6803036 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 332 (H332N)

Ref Sequence

ENSEMBL: ENSMUSP00000131417 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043578] [ENSMUST00000131494] [ENSMUST00000139838] [ENSMUST00000140079] [ENSMUST00000150761] [ENSMUST00000151281] [ENSMUST00000163727]

AlphaFold

Q80TY4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000043578
AA Change: H332N

PolyPhen 2 Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000042056
Gene: ENSMUSG00000033740
AA Change: H332N

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

possibly damaging
Transcript: ENSMUST00000131494
AA Change: H332N

PolyPhen 2 Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000117789
Gene: ENSMUSG00000033740
AA Change: H332N

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: ENSMUST00000139838

SMART Domains

Protein: ENSMUSP00000118129
Gene: ENSMUSG00000033740

Domain	Start	End	E-Value	Type
low complexity region	188	198	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000140079
AA Change: H332N

PolyPhen 2 Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000118322
Gene: ENSMUSG00000033740
AA Change: H332N

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

possibly damaging
Transcript: ENSMUST00000150761
AA Change: H332N

PolyPhen 2 Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000120298
Gene: ENSMUSG00000033740
AA Change: H332N

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

possibly damaging
Transcript: ENSMUST00000151281
AA Change: H332N

PolyPhen 2 Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000122055
Gene: ENSMUSG00000033740
AA Change: H332N

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

possibly damaging
Transcript: ENSMUST00000163727
AA Change: H332N

PolyPhen 2 Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000131417
Gene: ENSMUSG00000033740
AA Change: H332N

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: 99.2%

Validation Efficiency

100% (70/70)

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm3	A	T	7: 119,768,043	N33I	probably damaging	Het
Ahnak2	A	T	12: 112,774,278	V314D	probably damaging	Het
Arl14epl	T	G	18: 46,932,443	C92G	probably benign	Het
Atp6v1h	T	A	1: 5,149,992	M423K	possibly damaging	Het
Baiap3	G	A	17: 25,243,840	R1075C	probably benign	Het
Baz2b	C	T	2: 59,933,670		probably null	Het
Bicral	T	C	17: 46,824,634	H550R	probably benign	Het
C1rl	A	G	6: 124,508,639	Y323C	probably damaging	Het
Ccr9	T	A	9: 123,779,971	H239Q	possibly damaging	Het
Cdh16	T	A	8: 104,617,635	R91*	probably null	Het
Coro1c	A	G	5: 113,845,396	F357S	possibly damaging	Het
Cpsf4	G	A	5: 145,176,129	R141Q	possibly damaging	Het
Cryzl2	G	A	1: 157,470,748	V236I	probably damaging	Het
Cttnbp2	T	C	6: 18,435,118	E247G	probably damaging	Het
Dbr1	T	A	9: 99,576,568		probably null	Het
Dclk1	T	C	3: 55,463,048	S23P	probably damaging	Het
Diexf	A	C	1: 193,120,723		probably null	Het
Dpyd	A	T	3: 118,899,289	I361F	probably benign	Het
Elac2	A	G	11: 64,983,711	E218G	probably benign	Het
Eml4	T	A	17: 83,425,327	D136E	probably benign	Het
Fam198a	G	T	9: 121,965,526	V249L	possibly damaging	Het
Fam71e2	G	T	7: 4,758,585		probably benign	Het
Foxred1	A	T	9: 35,207,548	S223T	probably benign	Het
Gm11595	A	G	11: 99,772,648	C69R	unknown	Het
Gm14124	G	T	2: 150,266,456	V46F	possibly damaging	Het
Gna14	A	T	19: 16,533,764	H59L		Het
H2-Ab1	T	A	17: 34,267,989	I239N	probably damaging	Het
Ints7	T	C	1: 191,619,605	S809P	probably benign	Het
Itgb4	T	A	11: 116,005,565	Y1379*	probably null	Het
Kank1	A	G	19: 25,430,341	D1233G	probably damaging	Het
Kif13a	C	T	13: 46,752,455	V671M	possibly damaging	Het
Lrrc66	A	T	5: 73,607,161	D846E	probably benign	Het
Lyst	A	G	13: 13,616,666	H38R	probably damaging	Het
Mc3r	T	C	2: 172,249,634	F259L	probably damaging	Het
Med25	A	G	7: 44,882,782	Y384H	probably damaging	Het
Met	A	T	6: 17,547,128		probably benign	Het
Mmp16	T	C	4: 18,116,148	V584A	possibly damaging	Het
Mpp5	T	A	12: 78,797,199	I59N	probably damaging	Het
Mrgprb3	A	G	7: 48,643,194	L203P	probably damaging	Het
Mus81	A	G	19: 5,486,080	L185P	probably damaging	Het
Naaa	A	G	5: 92,277,075	V75A	possibly damaging	Het
Obscn	T	A	11: 59,043,929	T5292S	probably damaging	Het
Obscn	T	C	11: 59,052,604	S4801G	probably damaging	Het
Olfr703	T	C	7: 106,845,336	S242P	probably damaging	Het
Otof	T	C	5: 30,381,538	D1112G	probably benign	Het
Pbx4	A	G	8: 69,864,875	R170G	probably damaging	Het
Pigt	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	2: 164,499,669		probably null	Het
Plce1	A	T	19: 38,702,017	D715V	probably damaging	Het
Pms1	T	C	1: 53,207,611	T311A	possibly damaging	Het
Popdc2	A	G	16: 38,374,267	D350G	probably damaging	Het
Prex1	A	G	2: 166,587,180	V661A	probably benign	Het
Ptbp2	A	G	3: 119,751,908	Y130H	probably damaging	Het
Rev3l	C	T	10: 39,851,975	R2707W	probably damaging	Het
Rpl37	G	A	15: 5,117,703	R75K	probably null	Het
Ryr3	T	A	2: 112,949,130	R259*	probably null	Het
Scai	A	T	2: 39,190,621	S8T	probably benign	Het
Scn4a	C	A	11: 106,320,900	L1430F	probably damaging	Het
Sema5a	A	G	15: 32,686,847	K1035R	probably damaging	Het
Siah3	A	G	14: 75,525,585	H92R	probably benign	Het
Smc4	G	A	3: 69,018,195	V342I	possibly damaging	Het
Spata31d1a	C	T	13: 59,700,324	C1330Y	possibly damaging	Het
Sycp1	T	A	3: 102,898,934	E480D	possibly damaging	Het
Tex14	A	T	11: 87,497,915	I323F	probably damaging	Het
Tm7sf2	A	T	19: 6,064,077		probably null	Het
Tmem241	G	T	18: 12,113,406	H62Q	probably benign	Het
Tmem54	T	A	4: 129,110,801		probably null	Het
Tomm34	A	G	2: 164,070,478	L39P	probably damaging	Het
Triml2	T	A	8: 43,193,536	V354D	probably damaging	Het
Usp19	T	C	9: 108,496,958	I738T	possibly damaging	Het
Utrn	T	A	10: 12,826,770		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
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
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

Predicted Primers

PCR Primer
(F):5'- TGAAAGCCCAGCCTTCCTTC -3'
(R):5'- AAAGGAAGGAATCGTCTGTCTC -3'

Sequencing Primer
(F):5'- CTTCCTTCCCAGAGGTTGAAGAG -3'
(R):5'- CTCTAAACCAACTATTCCTGTG -3'

Posted On

2019-05-13