Mutagenetix > Incidental Mutation

Incidental Mutation 'R8492:Tdh'

658075

Institutional Source

Beutler Lab

Gene Symbol

Tdh

Ensembl Gene

ENSMUSG00000021953

Gene Name

L-threonine dehydrogenase

Synonyms

MMRRC Submission

067934-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.145) question?

Stock #

R8492 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

63729796-63746541 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 63730269 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Tyrosine at position 337 (D337Y)

Ref Sequence

ENSEMBL: ENSMUSP00000022522 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022522] [ENSMUST00000165776] [ENSMUST00000168488] [ENSMUST00000168669]

AlphaFold

Q8K3F7

Predicted Effect

probably damaging
Transcript: ENSMUST00000022522
AA Change: D337Y

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

SMART Domains

Protein: ENSMUSP00000022522
Gene: ENSMUSG00000021953
AA Change: D337Y

Domain	Start	End	E-Value	Type
Pfam:RmlD_sub_bind	56	252	3.3e-10	PFAM
Pfam:Epimerase	58	294	5.8e-22	PFAM
Pfam:3Beta_HSD	59	185	7e-9	PFAM
Pfam:GDP_Man_Dehyd	59	359	1.4e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000165776

SMART Domains

Protein: ENSMUSP00000129206
Gene: ENSMUSG00000021953

Domain	Start	End	E-Value	Type
SCOP:d1kc0a_	42	149	3e-11	SMART
PDB:3A4V\|B	43	144	3e-18	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000168488

SMART Domains

Protein: ENSMUSP00000131068
Gene: ENSMUSG00000021953

Domain	Start	End	E-Value	Type
SCOP:d1kc0a_	42	140	5e-11	SMART
PDB:3A4V\|B	43	148	1e-18	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000168669

SMART Domains

Protein: ENSMUSP00000132119
Gene: ENSMUSG00000021953

Domain	Start	End	E-Value	Type
Pfam:RmlD_sub_bind	41	205	6.9e-10	PFAM
Pfam:Polysacc_synt_2	43	164	2.2e-6	PFAM
Pfam:Epimerase	43	200	9.2e-13	PFAM
Pfam:3Beta_HSD	44	168	5.1e-9	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (68/68)

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330159F19Rik	G	A	10: 29,094,243 (GRCm39)	R43K	possibly damaging	Het
Abcc2	A	T	19: 43,793,410 (GRCm39)	Y354F	probably benign	Het
Aloxe3	A	T	11: 69,017,301 (GRCm39)	T25S	possibly damaging	Het
Als2	T	C	1: 59,250,503 (GRCm39)	K414E	probably damaging	Het
Ankmy2	A	T	12: 36,226,590 (GRCm39)	I95F	probably damaging	Het
Ankrd35	T	G	3: 96,589,529 (GRCm39)		probably null	Het
Ap3b1	A	G	13: 94,531,294 (GRCm39)	N91S	possibly damaging	Het
Apip	T	A	2: 102,922,866 (GRCm39)	L228H	probably damaging	Het
Arhgap23	A	G	11: 97,365,847 (GRCm39)	Y488C	probably damaging	Het
Asah2	G	A	19: 31,983,659 (GRCm39)	T595M	probably benign	Het
Ccdc174	G	C	6: 91,865,138 (GRCm39)	R132T	probably benign	Het
Ccng2	A	C	5: 93,419,313 (GRCm39)	H233P	probably damaging	Het
Cemip	A	G	7: 83,622,422 (GRCm39)	F586L	probably damaging	Het
Cenpf	A	G	1: 189,390,926 (GRCm39)	S969P	probably damaging	Het
Cep170b	G	A	12: 112,711,134 (GRCm39)	D1505N	probably damaging	Het
Colec12	T	A	18: 9,876,980 (GRCm39)		probably null	Het
Cytip	A	G	2: 58,027,869 (GRCm39)		probably null	Het
D630045J12Rik	A	T	6: 38,167,525 (GRCm39)	S1026T	probably damaging	Het
Disc1	T	A	8: 125,817,177 (GRCm39)	D372E	probably damaging	Het
Dlgap2	A	T	8: 14,828,271 (GRCm39)	M560L	possibly damaging	Het
Dync2li1	C	A	17: 84,957,134 (GRCm39)		probably null	Het
Eif3c	C	T	7: 126,162,282 (GRCm39)	G180D	probably damaging	Het
G530012D18Rik	C	G	1: 85,504,935 (GRCm39)	D113E	unknown	Het
G6pc2	A	G	2: 69,050,586 (GRCm39)	I70M	probably damaging	Het
Gm5145	A	T	17: 20,790,681 (GRCm39)	I20F	probably damaging	Het
Hba-x	T	A	11: 32,227,921 (GRCm39)	F128L	probably benign	Het
Hspb1	G	A	5: 135,918,222 (GRCm39)	E190K	possibly damaging	Het
Ift122	T	A	6: 115,863,966 (GRCm39)	S246T	probably benign	Het
Inppl1	A	T	7: 101,475,985 (GRCm39)	S828T	probably damaging	Het
Krt84	C	A	15: 101,438,051 (GRCm39)	Q301H	probably damaging	Het
Malrd1	T	G	2: 15,614,934 (GRCm39)	S250A		Het
Mettl21e	A	G	1: 44,245,553 (GRCm39)	I231T	probably damaging	Het
Miip	T	C	4: 147,945,881 (GRCm39)	D341G	probably damaging	Het
Ncoa1	T	C	12: 4,313,473 (GRCm39)	D1287G	probably damaging	Het
Ndufb5	T	G	3: 32,805,377 (GRCm39)		probably null	Het
Neb	T	C	2: 52,203,224 (GRCm39)	E309G	probably damaging	Het
Nf1	T	A	11: 79,299,248 (GRCm39)	F199I	probably benign	Het
Or12k7	T	A	2: 36,958,695 (GRCm39)	I126N	probably damaging	Het
Pcdhgc3	T	A	18: 37,940,347 (GRCm39)	Y249*	probably null	Het
Plekhg3	G	T	12: 76,622,790 (GRCm39)	V677L	probably benign	Het
Ppm1f	T	C	16: 16,733,042 (GRCm39)	Y25H	probably damaging	Het
Prok2	A	T	6: 99,691,437 (GRCm39)	H75Q	probably benign	Het
Ralgapa2	A	T	2: 146,184,524 (GRCm39)	H1494Q	possibly damaging	Het
Rapgef6	T	G	11: 54,581,063 (GRCm39)	I1277S	probably damaging	Het
Rhob	G	T	12: 8,549,531 (GRCm39)	Y34*	probably null	Het
Rnf141	T	G	7: 110,436,407 (GRCm39)	D7A	probably benign	Het
Robo1	T	C	16: 72,809,911 (GRCm39)	S1220P	probably benign	Het
Rpl13a	A	G	7: 44,775,945 (GRCm39)	V48A	possibly damaging	Het
Serpinb9f	C	A	13: 33,518,587 (GRCm39)	H362Q	probably damaging	Het
Shld2	T	A	14: 33,967,189 (GRCm39)	K122N	probably damaging	Het
Slc22a8	G	T	19: 8,571,595 (GRCm39)	V109L	probably damaging	Het
Slc5a10	A	G	11: 61,564,809 (GRCm39)	V390A	probably benign	Het
Snx14	T	C	9: 88,263,869 (GRCm39)	N839D	possibly damaging	Het
Taf1c	G	A	8: 120,325,456 (GRCm39)	T802I	probably benign	Het
Tmem156	A	T	5: 65,222,438 (GRCm39)	Y255N	possibly damaging	Het
Tmpo	C	A	10: 90,997,720 (GRCm39)	R689L	probably benign	Het
Trim56	A	C	5: 137,141,783 (GRCm39)	C578G	probably benign	Het
Triobp	C	T	15: 78,878,326 (GRCm39)	H1750Y	possibly damaging	Het
Trpv3	G	A	11: 73,179,035 (GRCm39)	W481*	probably null	Het
Tssk3	T	C	4: 129,383,445 (GRCm39)	M76V	probably benign	Het
Vmn1r215	A	T	13: 23,260,056 (GRCm39)	Y32F	possibly damaging	Het
Vmn1r53	A	G	6: 90,200,394 (GRCm39)	I310T	possibly damaging	Het
Vmn2r112	A	G	17: 22,821,470 (GRCm39)	T148A	probably benign	Het
Zdhhc14	G	A	17: 5,762,689 (GRCm39)	V198I	probably damaging	Het
Zfp109	T	C	7: 23,927,499 (GRCm39)	R637G	possibly damaging	Het
Zic5	G	T	14: 122,702,474 (GRCm39)	Q86K	unknown	Het
Zzef1	T	A	11: 72,777,572 (GRCm39)	M1801K	probably damaging	Het
Zzef1	T	G	11: 72,763,430 (GRCm39)	V1359G	probably damaging	Het

Other mutations in Tdh

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00843:Tdh	APN	14	63,733,213 (GRCm39)	missense	probably damaging	1.00
IGL02047:Tdh	APN	14	63,734,407 (GRCm39)	missense	probably benign	0.07
R0126:Tdh	UTSW	14	63,735,042 (GRCm39)	splice site	probably benign
R1530:Tdh	UTSW	14	63,733,504 (GRCm39)	missense	probably damaging	1.00
R3748:Tdh	UTSW	14	63,733,442 (GRCm39)	missense	probably benign	0.26
R4589:Tdh	UTSW	14	63,733,326 (GRCm39)	missense	probably damaging	1.00
R4646:Tdh	UTSW	14	63,731,205 (GRCm39)	missense	possibly damaging	0.51
R4647:Tdh	UTSW	14	63,731,205 (GRCm39)	missense	possibly damaging	0.51
R4648:Tdh	UTSW	14	63,731,205 (GRCm39)	missense	possibly damaging	0.51
R5038:Tdh	UTSW	14	63,733,575 (GRCm39)	nonsense	probably null
R5275:Tdh	UTSW	14	63,733,558 (GRCm39)	missense	probably damaging	1.00
R5295:Tdh	UTSW	14	63,733,558 (GRCm39)	missense	probably damaging	1.00
R6319:Tdh	UTSW	14	63,733,186 (GRCm39)	missense	probably benign	0.00
R6825:Tdh	UTSW	14	63,733,281 (GRCm39)	missense	probably damaging	0.99
R7218:Tdh	UTSW	14	63,733,206 (GRCm39)	missense	probably damaging	1.00
R7528:Tdh	UTSW	14	63,731,460 (GRCm39)	missense	probably damaging	1.00
R7732:Tdh	UTSW	14	63,733,507 (GRCm39)	missense	probably damaging	1.00
R8238:Tdh	UTSW	14	63,733,173 (GRCm39)	missense	probably damaging	1.00
R9010:Tdh	UTSW	14	63,737,704 (GRCm39)	missense	probably benign	0.00
R9043:Tdh	UTSW	14	63,730,278 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TGTGTAAAGGAACTCCAACCCC -3'
(R):5'- CTTCAGAAGAGGTGGCCTTG -3'

Sequencing Primer
(F):5'- AGTCTGGCTCTCCAACTTAGAG -3'
(R):5'- GTGTGTACTAGTTCTGCTCCAGTC -3'

Posted On

2021-01-18