Mutagenetix > Incidental Mutation

Incidental Mutation 'R6491:St18'

522841

Institutional Source

Beutler Lab

Gene Symbol

St18

Ensembl Gene

ENSMUSG00000033740

Gene Name

suppression of tumorigenicity 18

Synonyms

Nzf3, Myt3

MMRRC Submission

044623-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6491 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

6557455-6931164 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 6898209 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 670 (Y670*)

Ref Sequence

ENSEMBL: ENSMUSP00000131417 (fasta)

Gene Model

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

AlphaFold

Q80TY4

Predicted Effect

probably null
Transcript: ENSMUST00000043578
AA Change: Y670*

SMART Domains

Protein: ENSMUSP00000042056
Gene: ENSMUSG00000033740
AA Change: Y670*

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 null
Transcript: ENSMUST00000131494
AA Change: Y670*

SMART Domains

Protein: ENSMUSP00000117789
Gene: ENSMUSG00000033740
AA Change: Y670*

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 null
Transcript: ENSMUST00000140079
AA Change: Y670*

SMART Domains

Protein: ENSMUSP00000118322
Gene: ENSMUSG00000033740
AA Change: Y670*

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 null
Transcript: ENSMUST00000150761
AA Change: Y670*

SMART Domains

Protein: ENSMUSP00000120298
Gene: ENSMUSG00000033740
AA Change: Y670*

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 null
Transcript: ENSMUST00000151281
AA Change: Y670*

SMART Domains

Protein: ENSMUSP00000122055
Gene: ENSMUSG00000033740
AA Change: Y670*

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 null
Transcript: ENSMUST00000163727
AA Change: Y670*

SMART Domains

Protein: ENSMUSP00000131417
Gene: ENSMUSG00000033740
AA Change: Y670*

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

0.9700

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.5%

Validation Efficiency

100% (35/35)

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	T	C	13: 119,612,508 (GRCm39)	L431P	probably damaging	Het
Acad10	A	C	5: 121,768,220 (GRCm39)	W779G	probably damaging	Het
Acrbp	A	G	6: 125,028,442 (GRCm39)		probably benign	Het
Ank3	G	A	10: 69,827,459 (GRCm39)	A565T	probably benign	Het
Ap2a1	A	T	7: 44,565,588 (GRCm39)	I93K	probably damaging	Het
Arnt	T	A	3: 95,383,454 (GRCm39)	M240K	probably damaging	Het
Ceacam12	A	T	7: 17,803,185 (GRCm39)	K197M	probably damaging	Het
Cep41	T	C	6: 30,656,483 (GRCm39)	N323S	probably benign	Het
Dst	A	G	1: 34,232,093 (GRCm39)	T2904A	probably benign	Het
Eml1	G	A	12: 108,479,330 (GRCm39)		probably null	Het
Fbln2	A	G	6: 91,236,732 (GRCm39)	N749S	possibly damaging	Het
Irf2bpl	A	G	12: 86,930,238 (GRCm39)	V145A	probably benign	Het
Itga2b	T	C	11: 102,350,695 (GRCm39)		probably null	Het
Itga8	T	C	2: 12,209,587 (GRCm39)	D466G	probably damaging	Het
Kdm4c	G	T	4: 74,291,873 (GRCm39)	C830F	probably damaging	Het
Mrps27	T	C	13: 99,499,538 (GRCm39)	S73P	probably damaging	Het
Mtdh	T	G	15: 34,116,473 (GRCm39)	N17K	probably damaging	Het
Muc3a	A	G	5: 137,246,591 (GRCm39)	S9P	probably benign	Het
Or8b46	A	G	9: 38,558,751 (GRCm39)	L23P	probably damaging	Het
Oxgr1	T	A	14: 120,259,419 (GRCm39)	I263F	probably benign	Het
Phc1	A	G	6: 122,311,923 (GRCm39)			Het
Ppp2r5d	A	G	17: 46,996,509 (GRCm39)	F388S	probably damaging	Het
Pxmp4	A	G	2: 154,434,083 (GRCm39)		probably null	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Ror1	A	G	4: 100,267,109 (GRCm39)	N270S	possibly damaging	Het
Slc7a14	T	C	3: 31,278,093 (GRCm39)	Y504C	probably damaging	Het
Snx9	A	G	17: 5,970,437 (GRCm39)	D391G	probably benign	Het
Tjp1	A	T	7: 64,986,865 (GRCm39)	F207I	possibly damaging	Het
Trappc3	A	G	4: 126,169,022 (GRCm39)	I171V	probably benign	Het
Ugt2b5	A	T	5: 87,273,328 (GRCm39)	L446*	probably null	Het
Vmn2r105	A	T	17: 20,447,992 (GRCm39)	Y277*	probably null	Het
Vmn2r11	A	T	5: 109,196,800 (GRCm39)	N557K	possibly damaging	Het
Yod1	G	A	1: 130,645,275 (GRCm39)	G19S	probably damaging	Het
Zfp938	A	G	10: 82,063,363 (GRCm39)	*65Q	probably null	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
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
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'- CGGCACATTGGACTTAAGCATG -3'
(R):5'- GGTGTTAATCTAGACAAATGACCTG -3'

Sequencing Primer
(F):5'- CGAATCCACGACAAGTCTAT -3'
(R):5'- ATACAGTGGCTCATGGTCATC -3'

Posted On

2018-06-06