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: 0.100) question?

Stock #

R4767 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

71105150-71121364 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 71111279 bp (GRCm39)

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: 46,029,804 (GRCm39)		probably null	Het
Aig1	T	C	10: 13,677,602 (GRCm39)	N130S	probably damaging	Het
Alx1	A	T	10: 102,861,047 (GRCm39)	Y160*	probably null	Het
Ap4e1	T	C	2: 126,902,358 (GRCm39)	I755T	probably benign	Het
Apoc3	C	A	9: 46,145,833 (GRCm39)	E21*	probably null	Het
Atp9b	G	T	18: 80,796,285 (GRCm39)	H919Q	probably damaging	Het
Cemip	T	G	7: 83,622,514 (GRCm39)	Y555S	probably damaging	Het
Cic	T	C	7: 24,971,025 (GRCm39)	V252A	possibly damaging	Het
Cracr2a	A	T	6: 127,588,470 (GRCm39)	N210Y	probably damaging	Het
Crocc2	G	A	1: 93,130,578 (GRCm39)	R953Q	possibly damaging	Het
Csnk1d	A	G	11: 120,859,954 (GRCm39)	S318P	probably benign	Het
Ddx21	A	G	10: 62,427,751 (GRCm39)	L384P	probably damaging	Het
Dnah5	C	T	15: 28,270,620 (GRCm39)	T974I	probably benign	Het
Duox1	A	G	2: 122,163,922 (GRCm39)	Y863C	possibly damaging	Het
Epg5	C	A	18: 78,066,498 (GRCm39)	P2133T	possibly damaging	Het
Ephb6	A	T	6: 41,591,119 (GRCm39)	Q92L	possibly damaging	Het
Ercc4	C	A	16: 12,939,959 (GRCm39)	A73D	probably damaging	Het
Eva1c	A	T	16: 90,701,235 (GRCm39)	Y290F	probably damaging	Het
Galnt5	T	A	2: 57,918,156 (GRCm39)	V798E	possibly damaging	Het
Haus4	T	C	14: 54,786,342 (GRCm39)	E149G	probably damaging	Het
Ighv1-13	A	G	12: 114,594,556 (GRCm39)	Y86C	unknown	Het
Igkv9-120	G	T	6: 68,027,351 (GRCm39)	R88S	possibly damaging	Het
Lama3	T	C	18: 12,633,620 (GRCm39)	V1584A	probably benign	Het
Lamb1	A	G	12: 31,358,010 (GRCm39)	E1119G	probably damaging	Het
Lao1	T	C	4: 118,825,185 (GRCm39)	L335P	probably damaging	Het
Mindy4	A	G	6: 55,237,550 (GRCm39)	D375G	probably damaging	Het
Myo5a	T	C	9: 75,051,358 (GRCm39)	I317T	probably damaging	Het
Nhlrc2	G	A	19: 56,558,898 (GRCm39)	V128I	probably benign	Het
Nlrp2	C	T	7: 5,331,023 (GRCm39)	D458N	probably damaging	Het
Or1j18	A	T	2: 36,624,335 (GRCm39)	M1L	probably benign	Het
Or1o1	T	A	17: 37,717,091 (GRCm39)	C217*	probably null	Het
Or5a1	G	T	19: 12,097,300 (GRCm39)	H247N	probably damaging	Het
Or8g24	T	C	9: 38,989,988 (GRCm39)	T18A	possibly damaging	Het
Or9q2	A	T	19: 13,772,409 (GRCm39)	C189S	probably damaging	Het
Parp8	T	C	13: 117,005,072 (GRCm39)	H663R	probably damaging	Het
Pax6	T	C	2: 105,525,705 (GRCm39)	S377P	probably benign	Het
Pi15	A	G	1: 17,672,990 (GRCm39)	D63G	probably benign	Het
Plaa	A	G	4: 94,474,495 (GRCm39)		probably benign	Het
Rbm5	C	A	9: 107,622,412 (GRCm39)	W546C	probably damaging	Het
Rnf123	C	A	9: 107,929,288 (GRCm39)	C1257F	probably damaging	Het
Rnf185	A	G	11: 3,382,551 (GRCm39)	S45P	possibly damaging	Het
Sh3bp1	T	C	15: 78,788,697 (GRCm39)	S241P	possibly damaging	Het
Slfn8	G	A	11: 82,894,023 (GRCm39)	A872V	possibly damaging	Het
Smoc1	G	A	12: 81,151,547 (GRCm39)		probably null	Het
Sox14	A	T	9: 99,757,686 (GRCm39)	W18R	probably damaging	Het
Spata31d1a	T	C	13: 59,848,969 (GRCm39)	E1053G	probably benign	Het
Syne1	T	A	10: 5,294,866 (GRCm39)	K1246*	probably null	Het
Tbrg4	A	C	11: 6,570,909 (GRCm39)	S188A	probably benign	Het
Tmem266	C	T	9: 55,288,025 (GRCm39)	T34I	probably damaging	Het
Tmem59l	C	A	8: 70,938,748 (GRCm39)	R111L	probably benign	Het
Tpr	T	C	1: 150,306,280 (GRCm39)		probably benign	Het
Trpc6	T	C	9: 8,643,687 (GRCm39)	S491P	probably damaging	Het
Tspan10	A	T	11: 120,336,992 (GRCm39)	N254I	probably damaging	Het
Ubox5	A	T	2: 130,433,814 (GRCm39)	L511Q	probably damaging	Het
Vmn1r183	TATCCATC	TATC	7: 23,754,531 (GRCm39)		probably null	Het
Vmn2r4	C	T	3: 64,298,397 (GRCm39)	C577Y	probably damaging	Het
Vmn2r86	A	T	10: 130,291,606 (GRCm39)	M53K	probably benign	Het
Zfp948	T	A	17: 21,808,569 (GRCm39)	I587N	possibly damaging	Het

Other mutations in Thnsl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00417:Thnsl2	APN	6	71,108,884 (GRCm39)	missense	probably damaging	1.00
IGL00814:Thnsl2	APN	6	71,116,867 (GRCm39)	missense	probably damaging	1.00
IGL01139:Thnsl2	APN	6	71,115,718 (GRCm39)	missense	probably damaging	1.00
IGL01380:Thnsl2	APN	6	71,115,740 (GRCm39)	missense	probably benign
IGL01511:Thnsl2	APN	6	71,116,777 (GRCm39)	missense	probably benign	0.04
IGL02000:Thnsl2	APN	6	71,111,203 (GRCm39)	missense	probably damaging	1.00
IGL03157:Thnsl2	APN	6	71,108,930 (GRCm39)	missense	probably benign	0.00
R0372:Thnsl2	UTSW	6	71,116,774 (GRCm39)	missense	probably damaging	1.00
R0380:Thnsl2	UTSW	6	71,118,314 (GRCm39)	missense	probably damaging	1.00
R0521:Thnsl2	UTSW	6	71,111,243 (GRCm39)	missense	probably damaging	1.00
R0815:Thnsl2	UTSW	6	71,111,208 (GRCm39)	nonsense	probably null
R0863:Thnsl2	UTSW	6	71,111,208 (GRCm39)	nonsense	probably null
R1300:Thnsl2	UTSW	6	71,111,175 (GRCm39)	missense	probably damaging	1.00
R2867:Thnsl2	UTSW	6	71,108,945 (GRCm39)	missense	probably damaging	1.00
R2867:Thnsl2	UTSW	6	71,108,945 (GRCm39)	missense	probably damaging	1.00
R5578:Thnsl2	UTSW	6	71,115,749 (GRCm39)	missense	probably benign	0.40
R5818:Thnsl2	UTSW	6	71,111,127 (GRCm39)	missense	probably benign	0.01
R6627:Thnsl2	UTSW	6	71,111,199 (GRCm39)	missense	possibly damaging	0.70
R6800:Thnsl2	UTSW	6	71,118,264 (GRCm39)	missense	probably benign	0.29
R7192:Thnsl2	UTSW	6	71,116,739 (GRCm39)	missense	probably benign	0.02
R7391:Thnsl2	UTSW	6	71,108,914 (GRCm39)	missense	probably damaging	1.00
R7516:Thnsl2	UTSW	6	71,108,990 (GRCm39)	nonsense	probably null
R7565:Thnsl2	UTSW	6	71,118,311 (GRCm39)	missense	probably benign	0.00
R7980:Thnsl2	UTSW	6	71,115,652 (GRCm39)	missense	probably damaging	1.00
R7988:Thnsl2	UTSW	6	71,118,303 (GRCm39)	missense	probably benign	0.38
R8170:Thnsl2	UTSW	6	71,106,317 (GRCm39)	missense	probably benign	0.05
R8917:Thnsl2	UTSW	6	71,116,927 (GRCm39)	missense	probably benign
R9547:Thnsl2	UTSW	6	71,116,810 (GRCm39)	missense	probably damaging	1.00
R9696:Thnsl2	UTSW	6	71,108,930 (GRCm39)	missense	possibly damaging	0.95
X0021:Thnsl2	UTSW	6	71,105,688 (GRCm39)	missense	probably benign	0.02
X0066:Thnsl2	UTSW	6	71,116,821 (GRCm39)	nonsense	probably null
Z1177:Thnsl2	UTSW	6	71,105,825 (GRCm39)	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