Mutagenetix > Incidental Mutation

Incidental Mutation 'R3738:St18'

270210

Institutional Source

Beutler Lab

Gene Symbol

St18

Ensembl Gene

ENSMUSG00000033740

Gene Name

suppression of tumorigenicity 18

Synonyms

Nzf3, Myt3

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3738 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

6557455-6931164 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to A at 6925697 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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

SMART Domains

Protein: ENSMUSP00000042056
Gene: ENSMUSG00000033740

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: ENSMUST00000130338

Predicted Effect

probably null
Transcript: ENSMUST00000131494

SMART Domains

Protein: ENSMUSP00000117789
Gene: ENSMUSG00000033740

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

SMART Domains

Protein: ENSMUSP00000118322
Gene: ENSMUSG00000033740

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: ENSMUST00000150761

SMART Domains

Protein: ENSMUSP00000120298
Gene: ENSMUSG00000033740

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: ENSMUST00000151281

SMART Domains

Protein: ENSMUSP00000122055
Gene: ENSMUSG00000033740

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

SMART Domains

Protein: ENSMUSP00000131417
Gene: ENSMUSG00000033740

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

0.9482

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.6%

Validation Efficiency

98% (47/48)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik2	A	T	11: 48,910,108 (GRCm39)	L775*	probably null	Het
Abcb8	A	G	5: 24,605,619 (GRCm39)	S168G	probably benign	Het
Ankrd11	A	G	8: 123,623,454 (GRCm39)		probably benign	Het
Api5	C	T	2: 94,255,958 (GRCm39)	R243Q	possibly damaging	Het
Atp8b1	A	G	18: 64,666,800 (GRCm39)		probably benign	Het
Camk2d	A	G	3: 126,565,488 (GRCm39)	D136G	probably damaging	Het
Capn3	G	A	2: 120,315,768 (GRCm39)	D227N	possibly damaging	Het
Ccdc168	A	G	1: 44,098,026 (GRCm39)	V1024A	probably benign	Het
Cwf19l2	A	T	9: 3,456,803 (GRCm39)	H712L	probably benign	Het
Dlgap3	A	G	4: 127,089,399 (GRCm39)	T332A	probably damaging	Het
Eml6	C	A	11: 29,753,137 (GRCm39)	V925L	probably benign	Het
Fbll1	G	A	11: 35,688,505 (GRCm39)	H253Y	possibly damaging	Het
Fbxw18	T	A	9: 109,517,981 (GRCm39)	Y335F	possibly damaging	Het
Gbp10	T	A	5: 105,372,324 (GRCm39)	E145D	possibly damaging	Het
Ifi203	T	A	1: 173,757,040 (GRCm39)		probably benign	Het
Insig1	T	A	5: 28,276,701 (GRCm39)	I89N	probably damaging	Het
Itpkc	T	A	7: 26,927,029 (GRCm39)	D295V	possibly damaging	Het
Jak1	T	C	4: 101,048,665 (GRCm39)		probably benign	Het
Kctd9	G	A	14: 67,971,737 (GRCm39)	D157N	possibly damaging	Het
Kmt2c	A	C	5: 25,610,381 (GRCm39)	F242V	probably benign	Het
Lcorl	A	T	5: 45,891,383 (GRCm39)	N323K	possibly damaging	Het
Lin54	T	C	5: 100,607,665 (GRCm39)		probably benign	Het
Ltbp2	A	T	12: 84,851,248 (GRCm39)	C836S	probably damaging	Het
Mfsd2b	A	G	12: 4,920,578 (GRCm39)	S80P	probably damaging	Het
Myh9	G	A	15: 77,651,012 (GRCm39)	R1612C	probably damaging	Het
Nr1d2	T	A	14: 18,211,804 (GRCm38)	N433I	possibly damaging	Het
Or2y1	A	G	11: 49,386,287 (GRCm39)	D309G	possibly damaging	Het
Or4c112	T	C	2: 88,853,954 (GRCm39)	Y131C	probably damaging	Het
Or4l15	T	C	14: 50,198,013 (GRCm39)	N172S	possibly damaging	Het
Pld4	T	C	12: 112,734,469 (GRCm39)	I410T	probably benign	Het
Pnma8b	C	T	7: 16,680,521 (GRCm39)	H502Y	probably benign	Het
Pramel12	T	C	4: 143,143,212 (GRCm39)		probably benign	Het
Rbbp8nl	G	T	2: 179,923,041 (GRCm39)	T184K	probably benign	Het
Saa4	T	A	7: 46,379,053 (GRCm39)	N96Y	possibly damaging	Het
Serpinb6d	T	A	13: 33,851,663 (GRCm39)	V140E	probably damaging	Het
Ska3	A	T	14: 58,049,053 (GRCm39)	M306K	probably benign	Het
Slfn4	T	C	11: 83,076,137 (GRCm39)	M1T	probably null	Het
Sorcs1	T	C	19: 50,139,659 (GRCm39)	I1168V	probably benign	Het
Srsf4	C	T	4: 131,627,413 (GRCm39)		probably benign	Het
Trim9	T	C	12: 70,297,969 (GRCm39)	T579A	probably damaging	Het
Trpc2	G	A	7: 101,733,711 (GRCm39)	S220N	probably damaging	Het
Ube2j1	A	T	4: 33,036,723 (GRCm39)	M16L	probably benign	Het
Usp42	C	T	5: 143,701,194 (GRCm39)	S943N	probably benign	Het
Utp20	C	T	10: 88,598,668 (GRCm39)	V103I	probably benign	Het
Vmn2r62	G	A	7: 42,437,311 (GRCm39)	P391L	probably benign	Het
Zfa-ps	T	A	10: 52,420,636 (GRCm39)		noncoding transcript	Het
Zfp423	A	G	8: 88,507,972 (GRCm39)	C666R	probably 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
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
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'- GAAAGCTGGTTCTTTCTCACTC -3'
(R):5'- GCTGCTGCTGAGTCAATAGC -3'

Sequencing Primer
(F):5'- TTCTCACTCCATTTTCTTAGAAAGC -3'
(R):5'- CTGCTGAGTCAATAGCCACAGG -3'

Posted On

2015-03-18