Mutagenetix > Incidental Mutation

Incidental Mutation 'R0588:St18'

55827

Institutional Source

Beutler Lab

Gene Symbol

St18

Ensembl Gene

ENSMUSG00000033740

Gene Name

suppression of tumorigenicity 18

Synonyms

Nzf3, Myt3

MMRRC Submission

038778-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0588 (G1)

Quality Score

219

Status

Validated

Chromosome

Chromosomal Location

6487231-6860940 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 6817738 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 510 (F510L)

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: F510L

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000042056
Gene: ENSMUSG00000033740
AA Change: F510L

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: F510L

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000117789
Gene: ENSMUSG00000033740
AA Change: F510L

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: F510L

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000118322
Gene: ENSMUSG00000033740
AA Change: F510L

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 damaging
Transcript: ENSMUST00000150761
AA Change: F510L

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000120298
Gene: ENSMUSG00000033740
AA Change: F510L

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: F510L

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000122055
Gene: ENSMUSG00000033740
AA Change: F510L

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: F510L

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000131417
Gene: ENSMUSG00000033740
AA Change: F510L

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

0.6467

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.4%
20x: 94.8%

Validation Efficiency

100% (25/25)

Allele List at MGI

Other mutations in this stock

Total: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	T	A	6: 142,603,061 (GRCm38)	K1299*	probably null	Het
Adamts2	G	T	11: 50,776,664 (GRCm38)	W476C	probably damaging	Het
Ankrd13c	T	C	3: 158,005,817 (GRCm38)	F525L	probably damaging	Het
Arg1	T	C	10: 24,920,624 (GRCm38)	S102G	probably damaging	Het
Atp2a3	A	T	11: 72,973,024 (GRCm38)	D192V	possibly damaging	Het
Cabin1	T	C	10: 75,745,337 (GRCm38)	E385G	possibly damaging	Het
Cacna1h	A	T	17: 25,387,564 (GRCm38)	D1020E	probably damaging	Het
Calcb	C	T	7: 114,720,126 (GRCm38)	H48Y	probably benign	Het
Crtc1	A	G	8: 70,439,549 (GRCm38)	S4P	probably damaging	Het
Dcaf6	A	G	1: 165,420,223 (GRCm38)	I147T	possibly damaging	Het
Ears2	T	C	7: 122,044,291 (GRCm38)		probably benign	Het
Fas	T	C	19: 34,327,140 (GRCm38)	V267A	probably damaging	Het
Fus	T	C	7: 127,985,574 (GRCm38)	L84P	probably damaging	Het
Fyb	T	C	15: 6,580,459 (GRCm38)	V171A	probably benign	Het
Gdap2	T	A	3: 100,170,001 (GRCm38)	M1K	probably null	Het
Gprc5b	T	A	7: 118,983,995 (GRCm38)	Q217L	probably benign	Het
Lrrc69	A	G	4: 14,704,001 (GRCm38)	I273T	possibly damaging	Het
Map4k4	C	A	1: 40,004,864 (GRCm38)	Q556K	possibly damaging	Het
Npy6r	T	A	18: 44,275,821 (GRCm38)	V103E	possibly damaging	Het
Olfr1449	A	G	19: 12,934,747 (GRCm38)	Y3C	probably benign	Het
Shisa9	A	G	16: 12,267,774 (GRCm38)	T416A	probably damaging	Het
Slc26a9	C	A	1: 131,754,011 (GRCm38)		probably benign	Het
Sostdc1	G	T	12: 36,317,021 (GRCm38)		probably benign	Het
Zdhhc7	A	G	8: 120,083,367 (GRCm38)		probably benign	Het

Other mutations in St18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00089:St18	APN	1	6,802,572 (GRCm38)	missense	probably benign	0.07
IGL00840:St18	APN	1	6,833,594 (GRCm38)	missense	probably damaging	1.00
IGL01016:St18	APN	1	6,844,323 (GRCm38)	missense	probably damaging	0.98
IGL01116:St18	APN	1	6,802,632 (GRCm38)	missense	probably damaging	0.96
IGL01719:St18	APN	1	6,845,796 (GRCm38)	splice site	probably benign
IGL01885:St18	APN	1	6,844,372 (GRCm38)	critical splice donor site	probably null
IGL02486:St18	APN	1	6,820,083 (GRCm38)	missense	probably damaging	1.00
IGL02611:St18	APN	1	6,768,890 (GRCm38)	splice site	probably benign
IGL02742:St18	APN	1	6,802,316 (GRCm38)	splice site	probably benign
IGL02953:St18	APN	1	6,844,113 (GRCm38)	splice site	probably benign
IGL02999:St18	APN	1	6,817,605 (GRCm38)	missense	probably benign	0.01
IGL03092:St18	APN	1	6,768,894 (GRCm38)	splice site	probably benign
Smallish	UTSW	1	6,855,473 (GRCm38)	critical splice donor site	probably null
IGL03055:St18	UTSW	1	6,802,735 (GRCm38)	missense	probably damaging	0.99
R0089:St18	UTSW	1	6,848,948 (GRCm38)	missense	probably benign	0.02
R0257:St18	UTSW	1	6,819,962 (GRCm38)	missense	probably benign	0.04
R0383:St18	UTSW	1	6,803,024 (GRCm38)	missense	probably damaging	1.00
R0989:St18	UTSW	1	6,827,881 (GRCm38)	missense	probably benign	0.04
R1068:St18	UTSW	1	6,795,562 (GRCm38)	missense	probably benign	0.01
R1311:St18	UTSW	1	6,845,644 (GRCm38)	missense	probably damaging	1.00
R1530:St18	UTSW	1	6,845,569 (GRCm38)	critical splice acceptor site	probably null
R1723:St18	UTSW	1	6,810,685 (GRCm38)	splice site	probably benign
R1926:St18	UTSW	1	6,802,689 (GRCm38)	missense	probably benign	0.00
R1927:St18	UTSW	1	6,802,712 (GRCm38)	missense	probably benign	0.00
R2035:St18	UTSW	1	6,802,328 (GRCm38)	missense	probably benign	0.00
R2091:St18	UTSW	1	6,827,971 (GRCm38)	missense	probably benign	0.08
R2139:St18	UTSW	1	6,810,615 (GRCm38)	missense	possibly damaging	0.85
R2261:St18	UTSW	1	6,845,572 (GRCm38)	missense	probably damaging	0.96
R2300:St18	UTSW	1	6,855,402 (GRCm38)	missense	probably damaging	1.00
R2322:St18	UTSW	1	6,844,124 (GRCm38)	nonsense	probably null
R2846:St18	UTSW	1	6,845,587 (GRCm38)	missense	probably damaging	0.96
R3738:St18	UTSW	1	6,855,473 (GRCm38)	critical splice donor site	probably null
R3739:St18	UTSW	1	6,855,473 (GRCm38)	critical splice donor site	probably null
R3772:St18	UTSW	1	6,844,329 (GRCm38)	missense	probably damaging	1.00
R3805:St18	UTSW	1	6,802,353 (GRCm38)	missense	probably damaging	1.00
R3953:St18	UTSW	1	6,802,893 (GRCm38)	missense	probably damaging	0.99
R4034:St18	UTSW	1	6,855,473 (GRCm38)	critical splice donor site	probably null
R4036:St18	UTSW	1	6,827,786 (GRCm38)	missense	probably damaging	1.00
R4407:St18	UTSW	1	6,827,837 (GRCm38)	missense	probably benign	0.29
R4527:St18	UTSW	1	6,855,423 (GRCm38)	missense	probably damaging	1.00
R4740:St18	UTSW	1	6,817,604 (GRCm38)	missense	probably benign
R4838:St18	UTSW	1	6,802,905 (GRCm38)	missense	probably benign	0.01
R5182:St18	UTSW	1	6,817,653 (GRCm38)	missense	probably benign	0.03
R5186:St18	UTSW	1	6,802,317 (GRCm38)	splice site	probably null
R5354:St18	UTSW	1	6,844,171 (GRCm38)	missense	probably damaging	1.00
R5423:St18	UTSW	1	6,802,616 (GRCm38)	missense	possibly damaging	0.91
R5724:St18	UTSW	1	6,770,950 (GRCm38)	missense	probably benign	0.13
R6182:St18	UTSW	1	6,844,118 (GRCm38)	splice site	probably null
R6491:St18	UTSW	1	6,827,985 (GRCm38)	nonsense	probably null
R6503:St18	UTSW	1	6,795,397 (GRCm38)	missense	probably damaging	1.00
R7037:St18	UTSW	1	6,803,036 (GRCm38)	missense	possibly damaging	0.65
R7098:St18	UTSW	1	6,827,842 (GRCm38)	missense	probably damaging	1.00
R7132:St18	UTSW	1	6,859,127 (GRCm38)	missense
R7144:St18	UTSW	1	6,833,594 (GRCm38)	missense	probably damaging	1.00
R7150:St18	UTSW	1	6,803,019 (GRCm38)	missense	probably damaging	1.00
R7334:St18	UTSW	1	6,802,559 (GRCm38)	missense	probably benign	0.00
R7502:St18	UTSW	1	6,827,970 (GRCm38)	missense	probably benign	0.09
R7729:St18	UTSW	1	6,802,537 (GRCm38)	missense	probably benign	0.00
R7848:St18	UTSW	1	6,857,445 (GRCm38)	critical splice donor site	probably null
R8088:St18	UTSW	1	6,828,005 (GRCm38)	missense	probably benign	0.00
R8299:St18	UTSW	1	6,802,992 (GRCm38)	missense	probably benign	0.01
R8338:St18	UTSW	1	6,809,292 (GRCm38)	missense	probably damaging	1.00
R8690:St18	UTSW	1	6,802,564 (GRCm38)	missense	probably benign
R8753:St18	UTSW	1	6,845,791 (GRCm38)	missense	probably damaging	1.00
R8808:St18	UTSW	1	6,810,602 (GRCm38)	missense	probably damaging	1.00
R8880:St18	UTSW	1	6,795,395 (GRCm38)	nonsense	probably null
R9055:St18	UTSW	1	6,802,982 (GRCm38)	nonsense	probably null
R9292:St18	UTSW	1	6,827,882 (GRCm38)	missense	probably benign	0.32
R9322:St18	UTSW	1	6,795,523 (GRCm38)	missense	probably benign	0.00
R9530:St18	UTSW	1	6,802,773 (GRCm38)	missense	probably benign	0.00
R9603:St18	UTSW	1	6,845,587 (GRCm38)	missense	probably damaging	1.00
R9611:St18	UTSW	1	6,802,923 (GRCm38)	missense	probably benign	0.00
R9639:St18	UTSW	1	6,859,022 (GRCm38)	missense
R9644:St18	UTSW	1	6,859,052 (GRCm38)	missense
R9740:St18	UTSW	1	6,803,063 (GRCm38)	nonsense	probably null
R9750:St18	UTSW	1	6,802,992 (GRCm38)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GACAGGAAGGGGTAATTCCATCTGTTG -3'
(R):5'- CAGTTCAGTCTTCTCCATGAATGTGTCA -3'

Sequencing Primer
(F):5'- TGTTGTGAATTCTGACCAACAG -3'
(R):5'- tgggaggcagaggcaag -3'

Posted On

2013-07-11