Mutagenetix > Incidental Mutation

Incidental Mutation 'R0989:St18'

97445

Institutional Source

Beutler Lab

Gene Symbol

St18

Ensembl Gene

ENSMUSG00000033740

Gene Name

suppression of tumorigenicity 18

Synonyms

Nzf3, Myt3

MMRRC Submission

039109-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0989 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

6557455-6931164 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 6898105 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 636 (T636A)

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: T636A

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000042056
Gene: ENSMUSG00000033740
AA Change: T636A

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: T636A

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000117789
Gene: ENSMUSG00000033740
AA Change: T636A

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: T636A

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000118322
Gene: ENSMUSG00000033740
AA Change: T636A

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: T636A

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000120298
Gene: ENSMUSG00000033740
AA Change: T636A

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: T636A

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000122055
Gene: ENSMUSG00000033740
AA Change: T636A

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: T636A

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000131417
Gene: ENSMUSG00000033740
AA Change: T636A

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: 99.1%
3x: 98.2%
10x: 96.0%
20x: 92.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadsb	A	G	7: 131,030,273 (GRCm39)	D140G	probably damaging	Het
Atp7b	A	G	8: 22,518,710 (GRCm39)	S43P	possibly damaging	Het
C4bp	G	A	1: 130,570,790 (GRCm39)	T262I	probably benign	Het
Cdh23	A	G	10: 60,370,289 (GRCm39)	Y169H	probably damaging	Het
Celsr1	T	C	15: 85,915,480 (GRCm39)	E831G	probably benign	Het
Celsr2	A	C	3: 108,310,588 (GRCm39)	M1498R	probably benign	Het
Crim1	T	C	17: 78,508,373 (GRCm39)	V59A	probably benign	Het
Dnah10	A	G	5: 124,875,002 (GRCm39)	I2560V	probably benign	Het
Enpp2	A	T	15: 54,739,155 (GRCm39)	M376K	possibly damaging	Het
Extl1	TGCGTTGCACCGATACCGGG	TG	4: 134,084,988 (GRCm39)		probably benign	Het
Fam120a	G	T	13: 49,039,219 (GRCm39)	A979E	possibly damaging	Het
Fbxw11	T	C	11: 32,685,149 (GRCm39)	V328A	probably benign	Het
Gm4846	G	A	1: 166,314,689 (GRCm39)	S318L	possibly damaging	Het
Golm1	A	T	13: 59,787,997 (GRCm39)	Y301N	probably benign	Het
Ipo8	T	C	6: 148,698,180 (GRCm39)	T614A	probably benign	Het
Klhl33	T	A	14: 51,129,279 (GRCm39)	Y390F	probably damaging	Het
Minar1	T	A	9: 89,484,088 (GRCm39)	K436N	probably damaging	Het
Mlh3	A	G	12: 85,316,169 (GRCm39)	S6P	probably benign	Het
Neurod2	A	G	11: 98,218,805 (GRCm39)	S120P	probably damaging	Het
Nfkb1	A	G	3: 135,295,157 (GRCm39)	S896P	probably benign	Het
Nr3c2	T	C	8: 77,914,193 (GRCm39)	Y687H	probably damaging	Het
Or13a24	A	C	7: 140,154,200 (GRCm39)	I45L	probably damaging	Het
Or52k2	G	A	7: 102,253,690 (GRCm39)	G43D	probably damaging	Het
Parp3	C	T	9: 106,350,281 (GRCm39)		probably null	Het
Pcolce2	T	A	9: 95,520,776 (GRCm39)	M51K	probably benign	Het
Pnoc	T	C	14: 65,642,317 (GRCm39)	K149E	probably damaging	Het
Polr1b	T	G	2: 128,967,997 (GRCm39)	V1130G	probably damaging	Het
Prcp	A	T	7: 92,559,424 (GRCm39)	I163F	probably benign	Het
Sez6l2	A	G	7: 126,559,016 (GRCm39)	D361G	probably damaging	Het
Slc4a9	T	A	18: 36,669,920 (GRCm39)	L785*	probably null	Het
Ssna1	T	C	2: 25,161,575 (GRCm39)	T91A	probably benign	Het
Tln2	C	T	9: 67,136,736 (GRCm39)	A1250T	probably damaging	Het
Tnk2	A	G	16: 32,499,176 (GRCm39)	M815V	probably damaging	Het
Tspan31	T	A	10: 126,904,196 (GRCm39)	H167L	probably damaging	Het
Tspoap1	T	A	11: 87,656,649 (GRCm39)	C287S	probably damaging	Het
Unc80	T	C	1: 66,685,599 (GRCm39)	F2241S	possibly damaging	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
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
R2846:St18	UTSW	1	6,915,811 (GRCm39)	missense	probably damaging	0.96
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'- TGACTCTAACCACAAACTGCTGAGATG -3'
(R):5'- GGCTGCTGTGAGGACAACTTCTAC -3'

Sequencing Primer
(F):5'- CCACAAACTGCTGAGATGTTTTC -3'
(R):5'- ggatgtgaccccttcttctg -3'

Posted On

2014-01-05