Mutagenetix > Incidental Mutation

Incidental Mutation 'R2846:St18'

251561

Institutional Source

Beutler Lab

Gene Symbol

St18

Ensembl Gene

ENSMUSG00000033740

Gene Name

suppression of tumorigenicity 18

Synonyms

Nzf3, Myt3

MMRRC Submission

040439-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2846 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

6557455-6931164 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 6915811 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 819 (C819S)

Ref Sequence

ENSEMBL: ENSMUSP00000131417 (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: C819S

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000042056
Gene: ENSMUSG00000033740
AA Change: C819S

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: C819S

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000117789
Gene: ENSMUSG00000033740
AA Change: C819S

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: C819S

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000118322
Gene: ENSMUSG00000033740
AA Change: C819S

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: C819S

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000120298
Gene: ENSMUSG00000033740
AA Change: C819S

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 damaging
Transcript: ENSMUST00000151281
AA Change: C819S

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000122055
Gene: ENSMUSG00000033740
AA Change: C819S

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: C819S

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000131417
Gene: ENSMUSG00000033740
AA Change: C819S

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: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atg4a	G	A	X: 139,893,589 (GRCm39)	E106K	probably benign	Het
Bahd1	G	A	2: 118,753,004 (GRCm39)	R757H	probably damaging	Het
Cdnf	T	A	2: 3,514,165 (GRCm39)	M1K	probably null	Het
Ddx4	T	A	13: 112,741,146 (GRCm39)	K496M	probably damaging	Het
Dlg1	T	C	16: 31,682,015 (GRCm39)	S779P	probably damaging	Het
Dtna	T	A	18: 23,784,560 (GRCm39)		probably null	Het
Fhad1	G	T	4: 141,632,279 (GRCm39)	Q1287K	probably benign	Het
Gal3st2c	A	T	1: 93,924,122 (GRCm39)	Q8L	possibly damaging	Het
Hsd3b1	T	C	3: 98,760,094 (GRCm39)	E299G	probably damaging	Het
Hydin	T	C	8: 111,245,746 (GRCm39)	V2153A	probably benign	Het
Irs4	C	A	X: 140,507,336 (GRCm39)	G287W	probably damaging	Het
Kif21a	T	C	15: 90,818,667 (GRCm39)	I1570V	probably benign	Het
Kremen1	GG	GGGCG	11: 5,151,793 (GRCm39)		probably benign	Het
Mark2	T	C	19: 7,264,227 (GRCm39)	E116G	probably damaging	Het
Mfsd13a	C	T	19: 46,360,431 (GRCm39)	R328C	probably damaging	Het
Mindy4	T	C	6: 55,255,085 (GRCm39)	V521A	probably damaging	Het
Or10al3	T	C	17: 38,011,714 (GRCm39)	I51T	probably damaging	Het
Or1e25	A	T	11: 73,494,209 (GRCm39)	T268S	probably benign	Het
Pdgfrb	C	T	18: 61,197,088 (GRCm39)	P175S	probably benign	Het
Pign	C	A	1: 105,585,521 (GRCm39)	L9F	possibly damaging	Het
Plekha1	G	T	7: 130,510,095 (GRCm39)	W280C	probably damaging	Het
Ppfia3	C	A	7: 45,005,852 (GRCm39)	R348L	probably damaging	Het
Prr12	G	C	7: 44,695,436 (GRCm39)	S1343R	unknown	Het
Psmd13	C	A	7: 140,477,653 (GRCm39)		probably benign	Het
Qpct	A	G	17: 79,378,171 (GRCm39)	T114A	probably damaging	Het
Sec24d	A	G	3: 123,144,395 (GRCm39)	D624G	probably damaging	Het
Shank2	A	G	7: 143,623,792 (GRCm39)	Y259C	probably damaging	Het
Slc15a4	A	G	5: 127,681,600 (GRCm39)		probably null	Het
Smarcb1	C	A	10: 75,733,375 (GRCm39)	R332L	probably damaging	Het
Ssh3	T	C	19: 4,315,324 (GRCm39)	Y338C	probably damaging	Het
Tas2r124	A	G	6: 132,732,230 (GRCm39)	N180D	possibly damaging	Het
Tgfbr3l	A	G	8: 4,299,280 (GRCm39)	D49G	probably damaging	Het
Tmem204	G	A	17: 25,299,307 (GRCm39)	H71Y	probably benign	Het
Vmn1r212	A	G	13: 23,068,262 (GRCm39)	S24P	probably damaging	Het
Vmn2r6	A	G	3: 64,464,211 (GRCm39)	S208P	possibly damaging	Het
Zbtb8os	A	T	4: 129,235,309 (GRCm39)	E54D	probably damaging	Het
Zmiz1	A	G	14: 25,646,099 (GRCm39)	S259G	probably benign	Het

Other mutations in St18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00089:St18	APN	1	6,872,796 (GRCm39)	missense	probably benign	0.07
IGL00840:St18	APN	1	6,903,818 (GRCm39)	missense	probably damaging	1.00
IGL01016:St18	APN	1	6,914,547 (GRCm39)	missense	probably damaging	0.98
IGL01116:St18	APN	1	6,872,856 (GRCm39)	missense	probably damaging	0.96
IGL01719:St18	APN	1	6,916,020 (GRCm39)	splice site	probably benign
IGL01885:St18	APN	1	6,914,596 (GRCm39)	critical splice donor site	probably null
IGL02486:St18	APN	1	6,890,307 (GRCm39)	missense	probably damaging	1.00
IGL02611:St18	APN	1	6,839,114 (GRCm39)	splice site	probably benign
IGL02742:St18	APN	1	6,872,540 (GRCm39)	splice site	probably benign
IGL02953:St18	APN	1	6,914,337 (GRCm39)	splice site	probably benign
IGL02999:St18	APN	1	6,887,829 (GRCm39)	missense	probably benign	0.01
IGL03092:St18	APN	1	6,839,118 (GRCm39)	splice site	probably benign
Smallish	UTSW	1	6,925,697 (GRCm39)	critical splice donor site	probably null
IGL03055:St18	UTSW	1	6,872,959 (GRCm39)	missense	probably damaging	0.99
R0089:St18	UTSW	1	6,919,172 (GRCm39)	missense	probably benign	0.02
R0257:St18	UTSW	1	6,890,186 (GRCm39)	missense	probably benign	0.04
R0383:St18	UTSW	1	6,873,248 (GRCm39)	missense	probably damaging	1.00
R0588:St18	UTSW	1	6,887,962 (GRCm39)	missense	probably damaging	0.99
R0989:St18	UTSW	1	6,898,105 (GRCm39)	missense	probably benign	0.04
R1068:St18	UTSW	1	6,865,786 (GRCm39)	missense	probably benign	0.01
R1311:St18	UTSW	1	6,915,868 (GRCm39)	missense	probably damaging	1.00
R1530:St18	UTSW	1	6,915,793 (GRCm39)	critical splice acceptor site	probably null
R1723:St18	UTSW	1	6,880,909 (GRCm39)	splice site	probably benign
R1926:St18	UTSW	1	6,872,913 (GRCm39)	missense	probably benign	0.00
R1927:St18	UTSW	1	6,872,936 (GRCm39)	missense	probably benign	0.00
R2035:St18	UTSW	1	6,872,552 (GRCm39)	missense	probably benign	0.00
R2091:St18	UTSW	1	6,898,195 (GRCm39)	missense	probably benign	0.08
R2139:St18	UTSW	1	6,880,839 (GRCm39)	missense	possibly damaging	0.85
R2261:St18	UTSW	1	6,915,796 (GRCm39)	missense	probably damaging	0.96
R2300:St18	UTSW	1	6,925,626 (GRCm39)	missense	probably damaging	1.00
R2322:St18	UTSW	1	6,914,348 (GRCm39)	nonsense	probably null
R3738:St18	UTSW	1	6,925,697 (GRCm39)	critical splice donor site	probably null
R3739:St18	UTSW	1	6,925,697 (GRCm39)	critical splice donor site	probably null
R3772:St18	UTSW	1	6,914,553 (GRCm39)	missense	probably damaging	1.00
R3805:St18	UTSW	1	6,872,577 (GRCm39)	missense	probably damaging	1.00
R3953:St18	UTSW	1	6,873,117 (GRCm39)	missense	probably damaging	0.99
R4034:St18	UTSW	1	6,925,697 (GRCm39)	critical splice donor site	probably null
R4036:St18	UTSW	1	6,898,010 (GRCm39)	missense	probably damaging	1.00
R4407:St18	UTSW	1	6,898,061 (GRCm39)	missense	probably benign	0.29
R4527:St18	UTSW	1	6,925,647 (GRCm39)	missense	probably damaging	1.00
R4740:St18	UTSW	1	6,887,828 (GRCm39)	missense	probably benign
R4838:St18	UTSW	1	6,873,129 (GRCm39)	missense	probably benign	0.01
R5182:St18	UTSW	1	6,887,877 (GRCm39)	missense	probably benign	0.03
R5186:St18	UTSW	1	6,872,541 (GRCm39)	splice site	probably null
R5354:St18	UTSW	1	6,914,395 (GRCm39)	missense	probably damaging	1.00
R5423:St18	UTSW	1	6,872,840 (GRCm39)	missense	possibly damaging	0.91
R5724:St18	UTSW	1	6,841,174 (GRCm39)	missense	probably benign	0.13
R6182:St18	UTSW	1	6,914,342 (GRCm39)	splice site	probably null
R6491:St18	UTSW	1	6,898,209 (GRCm39)	nonsense	probably null
R6503:St18	UTSW	1	6,865,621 (GRCm39)	missense	probably damaging	1.00
R7037:St18	UTSW	1	6,873,260 (GRCm39)	missense	possibly damaging	0.65
R7098:St18	UTSW	1	6,898,066 (GRCm39)	missense	probably damaging	1.00
R7132:St18	UTSW	1	6,929,351 (GRCm39)	missense
R7144:St18	UTSW	1	6,903,818 (GRCm39)	missense	probably damaging	1.00
R7150:St18	UTSW	1	6,873,243 (GRCm39)	missense	probably damaging	1.00
R7334:St18	UTSW	1	6,872,783 (GRCm39)	missense	probably benign	0.00
R7502:St18	UTSW	1	6,898,194 (GRCm39)	missense	probably benign	0.09
R7729:St18	UTSW	1	6,872,761 (GRCm39)	missense	probably benign	0.00
R7848:St18	UTSW	1	6,927,669 (GRCm39)	critical splice donor site	probably null
R8088:St18	UTSW	1	6,898,229 (GRCm39)	missense	probably benign	0.00
R8299:St18	UTSW	1	6,873,216 (GRCm39)	missense	probably benign	0.01
R8338:St18	UTSW	1	6,879,516 (GRCm39)	missense	probably damaging	1.00
R8690:St18	UTSW	1	6,872,788 (GRCm39)	missense	probably benign
R8753:St18	UTSW	1	6,916,015 (GRCm39)	missense	probably damaging	1.00
R8808:St18	UTSW	1	6,880,826 (GRCm39)	missense	probably damaging	1.00
R8880:St18	UTSW	1	6,865,619 (GRCm39)	nonsense	probably null
R9055:St18	UTSW	1	6,873,206 (GRCm39)	nonsense	probably null
R9292:St18	UTSW	1	6,898,106 (GRCm39)	missense	probably benign	0.32
R9322:St18	UTSW	1	6,865,747 (GRCm39)	missense	probably benign	0.00
R9530:St18	UTSW	1	6,872,997 (GRCm39)	missense	probably benign	0.00
R9603:St18	UTSW	1	6,915,811 (GRCm39)	missense	probably damaging	1.00
R9611:St18	UTSW	1	6,873,147 (GRCm39)	missense	probably benign	0.00
R9639:St18	UTSW	1	6,929,246 (GRCm39)	missense
R9644:St18	UTSW	1	6,929,276 (GRCm39)	missense
R9740:St18	UTSW	1	6,873,287 (GRCm39)	nonsense	probably null
R9750:St18	UTSW	1	6,873,216 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GTCTGCCAGCTCTTACCAAC -3'
(R):5'- TGACCCAGACCATTGCATCC -3'

Sequencing Primer
(F):5'- CAGAGTGGTCCTACCTACATTGG -3'
(R):5'- AGACCATTGCATCCTGGCAGAG -3'

Posted On

2014-12-04