Mutagenetix > Incidental Mutation

Incidental Mutation 'R3805:St18'

274534

Institutional Source

Beutler Lab

Gene Symbol

St18

Ensembl Gene

ENSMUSG00000033740

Gene Name

suppression of tumorigenicity 18

Synonyms

Nzf3, Myt3

MMRRC Submission

040762-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3805 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

6557455-6931164 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 6872577 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 104 (L104H)

Ref Sequence

ENSEMBL: ENSMUSP00000118129 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043578] [ENSMUST00000131494] [ENSMUST00000139838] [ENSMUST00000140079] [ENSMUST00000150761] [ENSMUST00000151281] [ENSMUST00000163727]

AlphaFold

Q80TY4

Predicted Effect

probably damaging
Transcript: ENSMUST00000043578
AA Change: L104H

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000042056
Gene: ENSMUSG00000033740
AA Change: L104H

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: L104H

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000117789
Gene: ENSMUSG00000033740
AA Change: L104H

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: ENSMUST00000132207

Predicted Effect

probably damaging
Transcript: ENSMUST00000139838
AA Change: L104H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000118129
Gene: ENSMUSG00000033740
AA Change: L104H

Domain	Start	End	E-Value	Type
low complexity region	188	198	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000140079
AA Change: L104H

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000118322
Gene: ENSMUSG00000033740
AA Change: L104H

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: L104H

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000120298
Gene: ENSMUSG00000033740
AA Change: L104H

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: ENSMUST00000151281
AA Change: L104H

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000122055
Gene: ENSMUSG00000033740
AA Change: L104H

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: L104H

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000131417
Gene: ENSMUSG00000033740
AA Change: L104H

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

0.1498

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.7%
20x: 96.1%

Validation Efficiency

100% (41/41)

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	G	T	11: 109,684,980 (GRCm39)	C172*	probably null	Het
Aebp2	GCGGCC	GCGGCCGGCC	6: 140,589,675 (GRCm39)		probably null	Het
Ano5	T	C	7: 51,226,398 (GRCm39)	F584L	probably benign	Het
Ap1b1	T	A	11: 4,983,225 (GRCm39)		probably null	Het
Bicd1	T	A	6: 149,420,489 (GRCm39)	L780M	probably damaging	Het
Ccdc138	T	C	10: 58,397,819 (GRCm39)	I553T	possibly damaging	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Crct1	C	A	3: 92,922,014 (GRCm39)		probably benign	Het
Ctu1	T	C	7: 43,326,097 (GRCm39)	L252P	probably damaging	Het
Dhrs2	A	T	14: 55,472,205 (GRCm39)	N32I	probably benign	Het
Dnah1	A	T	14: 31,016,720 (GRCm39)	M1599K	possibly damaging	Het
Eri2	A	T	7: 119,385,231 (GRCm39)	C423*	probably null	Het
Fam169a	G	A	13: 97,234,192 (GRCm39)	V155I	probably benign	Het
Get4	G	T	5: 139,238,286 (GRCm39)	V23F	probably damaging	Het
Hdac3	A	G	18: 38,078,745 (GRCm39)		probably null	Het
Herc3	C	A	6: 58,893,835 (GRCm39)	H970Q	probably damaging	Het
Htt	A	G	5: 35,034,548 (GRCm39)		probably null	Het
Ifit1	A	G	19: 34,625,556 (GRCm39)	I231V	probably damaging	Het
Lingo4	A	G	3: 94,309,407 (GRCm39)	D115G	probably damaging	Het
Lrrc7	T	C	3: 157,891,130 (GRCm39)	I346V	probably benign	Het
Map7d1	A	T	4: 126,131,084 (GRCm39)		probably null	Het
Morf4l1	A	G	9: 89,977,196 (GRCm39)	S203P	probably benign	Het
Naaladl1	A	G	19: 6,164,895 (GRCm39)	T628A	probably benign	Het
Nlrp9a	T	A	7: 26,264,277 (GRCm39)	C643*	probably null	Het
Or4ac1-ps1	A	T	2: 88,370,700 (GRCm39)		noncoding transcript	Het
Or4b1	T	G	2: 89,978,805 (GRCm39)		probably benign	Het
Oxtr	T	C	6: 112,454,147 (GRCm39)	K39R	probably benign	Het
Ppp4r4	T	A	12: 103,566,625 (GRCm39)	M24K	probably damaging	Het
Ppp6r2	T	C	15: 89,149,842 (GRCm39)	F256L	probably benign	Het
Robo4	A	T	9: 37,315,734 (GRCm39)	D329V	possibly damaging	Het
Rsph10b	G	A	5: 143,895,206 (GRCm39)		probably null	Het
Slc9b2	T	C	3: 135,030,349 (GRCm39)	L222P	probably damaging	Het
Speer4a1	C	T	5: 26,240,082 (GRCm39)	E223K	possibly damaging	Het
Tmem184c	C	A	8: 78,323,504 (GRCm39)	D453Y	unknown	Het
Trpv1	A	T	11: 73,143,879 (GRCm39)	N237I	probably damaging	Het
Vmn2r77	T	A	7: 86,444,368 (GRCm39)	L7*	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
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'- TCCATGTACTTACATATGCAGGC -3'
(R):5'- CTCTCTGCTTTTAAAGACTGGATAC -3'

Sequencing Primer
(F):5'- ATCTCACGTGAGGTCCTGACTAG -3'
(R):5'- TAAAGACTGGATACTGCTGCC -3'

Posted On

2015-04-02