Mutagenetix > Incidental Mutation

Incidental Mutation 'R4767:Thnsl2'

366210

Institutional Source

Beutler Lab

Gene Symbol

Thnsl2

Ensembl Gene

ENSMUSG00000054474

Gene Name

threonine synthase-like 2 (bacterial)

Synonyms

TSH2

MMRRC Submission

042408-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.097) question?

Stock #

R4767 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

71128166-71144439 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 71134295 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 196 (D196E)

Ref Sequence

ENSEMBL: ENSMUSP00000124423 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074241] [ENSMUST00000160918]

AlphaFold

Q80W22

Predicted Effect

probably damaging
Transcript: ENSMUST00000074241
AA Change: D196E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000073861
Gene: ENSMUSG00000054474
AA Change: D196E

Domain	Start	End	E-Value	Type
Pfam:Thr_synth_N	2	81	2.4e-27	PFAM
Pfam:PALP	93	415	9.6e-16	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000160918
AA Change: D196E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000124423
Gene: ENSMUSG00000054474
AA Change: D196E

Domain	Start	End	E-Value	Type
Pfam:Thr_synth_N	2	81	1.1e-27	PFAM
Pfam:PALP	94	413	8.4e-17	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170455

Predicted Effect

probably benign
Transcript: ENSMUST00000170753

SMART Domains

Protein: ENSMUSP00000129994
Gene: ENSMUSG00000054474

Domain	Start	End	E-Value	Type
PDB:4F4F\|B	2	122	1e-11	PDB
SCOP:d1kl7a_	2	129	1e-10	SMART

Meta Mutation Damage Score

0.6434

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.3%

Validation Efficiency

95% (62/65)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a threonine synthase-like protein. A similar enzyme in mouse can catalyze the degradation of O-phospho-homoserine to a-ketobutyrate, phosphate, and ammonia. This protein also has phospho-lyase activity on both gamma and beta phosphorylated substrates. In mouse an alternatively spliced form of this protein has been shown to act as a cytokine and can induce the production of the inflammatory cytokine IL6 in osteoblasts. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam19	T	C	11: 46,138,977		probably null	Het
Aig1	T	C	10: 13,801,858	N130S	probably damaging	Het
Alx1	A	T	10: 103,025,186	Y160*	probably null	Het
Ap4e1	T	C	2: 127,060,438	I755T	probably benign	Het
Apoc3	C	A	9: 46,234,535	E21*	probably null	Het
Atp9b	G	T	18: 80,753,070	H919Q	probably damaging	Het
Cemip	T	G	7: 83,973,306	Y555S	probably damaging	Het
Cic	T	C	7: 25,271,600	V252A	possibly damaging	Het
Cracr2a	A	T	6: 127,611,507	N210Y	probably damaging	Het
Crocc2	G	A	1: 93,202,856	R953Q	possibly damaging	Het
Csnk1d	A	G	11: 120,969,128	S318P	probably benign	Het
Ddx21	A	G	10: 62,591,972	L384P	probably damaging	Het
Dnah5	C	T	15: 28,270,474	T974I	probably benign	Het
Duox1	A	G	2: 122,333,441	Y863C	possibly damaging	Het
Epg5	C	A	18: 78,023,283	P2133T	possibly damaging	Het
Ephb6	A	T	6: 41,614,185	Q92L	possibly damaging	Het
Ercc4	C	A	16: 13,122,095	A73D	probably damaging	Het
Eva1c	A	T	16: 90,904,347	Y290F	probably damaging	Het
Galnt5	T	A	2: 58,028,144	V798E	possibly damaging	Het
Haus4	T	C	14: 54,548,885	E149G	probably damaging	Het
Ighv1-13	A	G	12: 114,630,936	Y86C	unknown	Het
Igkv9-120	G	T	6: 68,050,367	R88S	possibly damaging	Het
Lama3	T	C	18: 12,500,563	V1584A	probably benign	Het
Lamb1	A	G	12: 31,308,011	E1119G	probably damaging	Het
Lao1	T	C	4: 118,967,988	L335P	probably damaging	Het
Mindy4	A	G	6: 55,260,565	D375G	probably damaging	Het
Myo5a	T	C	9: 75,144,076	I317T	probably damaging	Het
Nhlrc2	G	A	19: 56,570,466	V128I	probably benign	Het
Nlrp2	C	T	7: 5,328,024	D458N	probably damaging	Het
Olfr107	T	A	17: 37,406,200	C217*	probably null	Het
Olfr1497	A	T	19: 13,795,045	C189S	probably damaging	Het
Olfr347	A	T	2: 36,734,323	M1L	probably benign	Het
Olfr76	G	T	19: 12,119,936	H247N	probably damaging	Het
Olfr938	T	C	9: 39,078,692	T18A	possibly damaging	Het
Parp8	T	C	13: 116,868,536	H663R	probably damaging	Het
Pax6	T	C	2: 105,695,360	S377P	probably benign	Het
Pi15	A	G	1: 17,602,766	D63G	probably benign	Het
Plaa	A	G	4: 94,586,258		probably benign	Het
Rbm5	C	A	9: 107,745,213	W546C	probably damaging	Het
Rnf123	C	A	9: 108,052,089	C1257F	probably damaging	Het
Rnf185	A	G	11: 3,432,551	S45P	possibly damaging	Het
Sh3bp1	T	C	15: 78,904,497	S241P	possibly damaging	Het
Slfn8	G	A	11: 83,003,197	A872V	possibly damaging	Het
Smoc1	G	A	12: 81,104,773		probably null	Het
Sox14	A	T	9: 99,875,633	W18R	probably damaging	Het
Spata31d1a	T	C	13: 59,701,155	E1053G	probably benign	Het
Syne1	T	A	10: 5,344,866	K1246*	probably null	Het
Tbrg4	A	C	11: 6,620,909	S188A	probably benign	Het
Tmem266	C	T	9: 55,380,741	T34I	probably damaging	Het
Tmem59l	C	A	8: 70,486,098	R111L	probably benign	Het
Tpr	T	C	1: 150,430,529		probably benign	Het
Trpc6	T	C	9: 8,643,686	S491P	probably damaging	Het
Tspan10	A	T	11: 120,446,166	N254I	probably damaging	Het
Ubox5	A	T	2: 130,591,894	L511Q	probably damaging	Het
Vmn1r183	TATCCATC	TATC	7: 24,055,106		probably null	Het
Vmn2r4	C	T	3: 64,390,976	C577Y	probably damaging	Het
Vmn2r86	A	T	10: 130,455,737	M53K	probably benign	Het
Zfp948	T	A	17: 21,588,307	I587N	possibly damaging	Het

Other mutations in Thnsl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00417:Thnsl2	APN	6	71,131,900 (GRCm38)	missense	probably damaging	1.00
IGL00814:Thnsl2	APN	6	71,139,883 (GRCm38)	missense	probably damaging	1.00
IGL01139:Thnsl2	APN	6	71,138,734 (GRCm38)	missense	probably damaging	1.00
IGL01380:Thnsl2	APN	6	71,138,756 (GRCm38)	missense	probably benign
IGL01511:Thnsl2	APN	6	71,139,793 (GRCm38)	missense	probably benign	0.04
IGL02000:Thnsl2	APN	6	71,134,219 (GRCm38)	missense	probably damaging	1.00
IGL03157:Thnsl2	APN	6	71,131,946 (GRCm38)	missense	probably benign	0.00
R0372:Thnsl2	UTSW	6	71,139,790 (GRCm38)	missense	probably damaging	1.00
R0380:Thnsl2	UTSW	6	71,141,330 (GRCm38)	missense	probably damaging	1.00
R0521:Thnsl2	UTSW	6	71,134,259 (GRCm38)	missense	probably damaging	1.00
R0815:Thnsl2	UTSW	6	71,134,224 (GRCm38)	nonsense	probably null
R0863:Thnsl2	UTSW	6	71,134,224 (GRCm38)	nonsense	probably null
R1300:Thnsl2	UTSW	6	71,134,191 (GRCm38)	missense	probably damaging	1.00
R2867:Thnsl2	UTSW	6	71,131,961 (GRCm38)	missense	probably damaging	1.00
R2867:Thnsl2	UTSW	6	71,131,961 (GRCm38)	missense	probably damaging	1.00
R5578:Thnsl2	UTSW	6	71,138,765 (GRCm38)	missense	probably benign	0.40
R5818:Thnsl2	UTSW	6	71,134,143 (GRCm38)	missense	probably benign	0.01
R6627:Thnsl2	UTSW	6	71,134,215 (GRCm38)	missense	possibly damaging	0.70
R6800:Thnsl2	UTSW	6	71,141,280 (GRCm38)	missense	probably benign	0.29
R7192:Thnsl2	UTSW	6	71,139,755 (GRCm38)	missense	probably benign	0.02
R7391:Thnsl2	UTSW	6	71,131,930 (GRCm38)	missense	probably damaging	1.00
R7516:Thnsl2	UTSW	6	71,132,006 (GRCm38)	nonsense	probably null
R7565:Thnsl2	UTSW	6	71,141,327 (GRCm38)	missense	probably benign	0.00
R7980:Thnsl2	UTSW	6	71,138,668 (GRCm38)	missense	probably damaging	1.00
R7988:Thnsl2	UTSW	6	71,141,319 (GRCm38)	missense	probably benign	0.38
R8170:Thnsl2	UTSW	6	71,129,333 (GRCm38)	missense	probably benign	0.05
R8917:Thnsl2	UTSW	6	71,139,943 (GRCm38)	missense	probably benign
R9547:Thnsl2	UTSW	6	71,139,826 (GRCm38)	missense	probably damaging	1.00
R9696:Thnsl2	UTSW	6	71,131,946 (GRCm38)	missense	possibly damaging	0.95
X0021:Thnsl2	UTSW	6	71,128,704 (GRCm38)	missense	probably benign	0.02
X0066:Thnsl2	UTSW	6	71,139,837 (GRCm38)	nonsense	probably null
Z1177:Thnsl2	UTSW	6	71,128,841 (GRCm38)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- AGGGTCTCCTTACCTGCAAG -3'
(R):5'- TTACACGGAGCCTGGAAAG -3'

Sequencing Primer
(F):5'- TGCAAGGTTACCCCCAGCTC -3'
(R):5'- CAGGCTAAATAAAACACGTCAAAGTG -3'

Posted On

2015-12-21