Mutagenetix > Incidental Mutation

Incidental Mutation 'R4407:St18'

327685

Institutional Source

Beutler Lab

Gene Symbol

St18

Ensembl Gene

ENSMUSG00000033740

Gene Name

suppression of tumorigenicity 18

Synonyms

Nzf3, Myt3

MMRRC Submission

041689-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4407 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

6487231-6860940 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 6827837 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 621 (I621T)

Ref Sequence

ENSEMBL: ENSMUSP00000131417 (fasta)

Gene Model

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

AlphaFold

Q80TY4

Predicted Effect

probably benign
Transcript: ENSMUST00000043578
AA Change: I621T

PolyPhen 2 Score 0.292 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000042056
Gene: ENSMUSG00000033740
AA Change: I621T

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: I621T

PolyPhen 2 Score 0.292 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000117789
Gene: ENSMUSG00000033740
AA Change: I621T

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: I621T

PolyPhen 2 Score 0.292 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000118322
Gene: ENSMUSG00000033740
AA Change: I621T

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: I621T

PolyPhen 2 Score 0.292 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000120298
Gene: ENSMUSG00000033740
AA Change: I621T

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: ENSMUST00000151015

Predicted Effect

probably benign
Transcript: ENSMUST00000151281
AA Change: I621T

PolyPhen 2 Score 0.292 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000122055
Gene: ENSMUSG00000033740
AA Change: I621T

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: I621T

PolyPhen 2 Score 0.292 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000131417
Gene: ENSMUSG00000033740
AA Change: I621T

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

0.1169

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

100% (61/61)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830035A12Rik	T	C	11: 107,532,055		noncoding transcript	Het
Bbs10	A	G	10: 111,299,859	T278A	probably benign	Het
BC053393	A	G	11: 46,577,380	T94A	probably damaging	Het
Bcl6b	A	G	11: 70,226,103	L450P	probably damaging	Het
Braf	T	G	6: 39,615,720	K674Q	probably damaging	Het
Cep112	C	T	11: 108,519,201	T481I	possibly damaging	Het
Cep135	T	A	5: 76,624,667	M633K	probably benign	Het
Cpped1	T	C	16: 11,805,421	Y278C	probably damaging	Het
Depdc5	T	A	5: 32,904,534		probably null	Het
Dolpp1	C	T	2: 30,396,452	A128V	possibly damaging	Het
E2f5	T	A	3: 14,603,763	D238E	probably benign	Het
Fat4	A	T	3: 38,958,540	D2328V	probably benign	Het
Fbln1	T	A	15: 85,231,556		probably null	Het
Fkbp3	T	C	12: 65,070,004	T53A	probably damaging	Het
Flg2	G	T	3: 93,214,869	G1449C	unknown	Het
G530012D18Rik	G	C	1: 85,577,202		probably benign	Het
Glyctk	A	T	9: 106,157,108		probably benign	Het
Gm37596	C	A	3: 93,692,112	V317L	probably benign	Het
Gm6430	T	C	1: 97,025,572		noncoding transcript	Het
Golga1	C	A	2: 39,019,641		probably null	Het
Gucy2g	A	T	19: 55,237,837	F216I	probably benign	Het
L3mbtl3	A	G	10: 26,313,884	V494A	unknown	Het
Lama2	AATCAGACAGGAG	A	10: 27,212,128		probably benign	Het
Lemd3	A	T	10: 120,925,430	L907Q	possibly damaging	Het
Lrp2	A	T	2: 69,502,517	V1552D	probably damaging	Het
Map3k12	T	C	15: 102,505,402	T45A	probably damaging	Het
Mycbp2	A	T	14: 103,287,228	D665E	probably damaging	Het
Myof	A	G	19: 37,922,978	S1502P	probably damaging	Het
Olfr1178	A	T	2: 88,392,083	M279L	probably benign	Het
Pcdhac2	G	T	18: 37,144,446	V160L	probably benign	Het
Pcnt	T	C	10: 76,374,870	E2473G	possibly damaging	Het
Pitpnm2	T	A	5: 124,152,615	I3L	possibly damaging	Het
Prkd3	C	A	17: 78,983,558	W176L	probably damaging	Het
Prpf39	C	T	12: 65,056,266	A438V	probably damaging	Het
Rpgrip1	T	A	14: 52,147,399	F655I	probably damaging	Het
Rrp12	T	C	19: 41,892,551	Y147C	probably damaging	Het
Sec23b	A	T	2: 144,574,718	N429Y	possibly damaging	Het
Slc2a10	T	A	2: 165,514,764	S115T	probably damaging	Het
Spg11	A	C	2: 122,075,332	D1277E	probably benign	Het
Sspo	A	G	6: 48,460,520	D1279G	probably damaging	Het
Tbc1d31	T	A	15: 57,920,042	D112E	possibly damaging	Het
Tgm4	A	T	9: 123,056,530	D379V	probably damaging	Het
Thyn1	A	T	9: 27,003,597	D15V	possibly damaging	Het
Tm4sf19	T	C	16: 32,407,894	V167A	possibly damaging	Het
Trim38	A	C	13: 23,791,491	Q471P	probably benign	Het
Trmt1	T	A	8: 84,697,755		probably benign	Het
Ubqlnl	C	T	7: 104,149,718	V191M	probably benign	Het
Usp9y	T	C	Y: 1,336,375	I1500V	probably benign	Het
Vgll4	C	T	6: 114,890,612		probably null	Het
Vmn1r173	T	A	7: 23,703,016	N225K	probably damaging	Het
Vmn2r22	C	T	6: 123,637,954	G226R	probably damaging	Het
Wnk3	C	A	X: 151,233,213	P555Q	probably benign	Het
Yes1	T	G	5: 32,640,585	Y83D	possibly damaging	Het
Zdhhc15	G	A	X: 104,560,688	R322*	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
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
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'- CATGGGACTGTTCTTTAAAGTCTGC -3'
(R):5'- TGTCTTCCCATGGGATTTGC -3'

Sequencing Primer
(F):5'- GGACTGTTCTTTAAAGTCTGCATAAG -3'
(R):5'- CTATAGTTGATGGGCACATTCCAGC -3'

Posted On

2015-07-07