Mutagenetix > Incidental Mutation

Incidental Mutation 'R7706:Tha1'

594292

Institutional Source

Beutler Lab

Gene Symbol

Tha1

Ensembl Gene

ENSMUSG00000017713

Gene Name

threonine aldolase 1

Synonyms

GLY1, 1300017K07Rik

MMRRC Submission

045767-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

R7706 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

117758778-117764307 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 117760281 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 275 (Q275R)

Ref Sequence

ENSEMBL: ENSMUSP00000033230 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033230] [ENSMUST00000093905]

AlphaFold

Q6XPS7

Predicted Effect

probably damaging
Transcript: ENSMUST00000033230
AA Change: Q275R

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

SMART Domains

Protein: ENSMUSP00000033230
Gene: ENSMUSG00000017713
AA Change: Q275R

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
Pfam:Beta_elim_lyase	42	334	4.6e-91	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000093905

SMART Domains

Protein: ENSMUSP00000091432
Gene: ENSMUSG00000070330

Domain	Start	End	E-Value	Type
Pfam:PMP22_Claudin	4	190	9.7e-14	PFAM
Pfam:Claudin_2	16	192	1.3e-45	PFAM

Meta Mutation Damage Score

0.6329

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

98% (52/53)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600014C23Rik	G	A	17: 46,044,583 (GRCm39)	T46I	unknown	Het
Arhgef1	G	A	7: 24,616,306 (GRCm39)	D317N	probably damaging	Het
Atxn7l2	T	C	3: 108,114,719 (GRCm39)	D109G	probably damaging	Het
B4galnt3	C	A	6: 120,195,913 (GRCm39)	V305L	probably benign	Het
C9	T	A	15: 6,488,402 (GRCm39)	N85K	probably benign	Het
Cacna1g	T	C	11: 94,305,867 (GRCm39)	I1941V	probably benign	Het
Capn15	A	G	17: 26,183,125 (GRCm39)	V518A	probably benign	Het
Chst10	A	T	1: 38,905,106 (GRCm39)	Y200N	probably damaging	Het
Ciao3	T	C	17: 26,001,226 (GRCm39)	*493Q	probably null	Het
Cir1	A	G	2: 73,142,823 (GRCm39)	S4P	probably damaging	Het
Cish	G	A	9: 107,177,840 (GRCm39)	R172Q	probably benign	Het
Cnot10	A	T	9: 114,422,506 (GRCm39)	N693K	probably damaging	Het
Ddx6	A	G	9: 44,538,939 (GRCm39)	D249G	probably damaging	Het
Dennd6b	T	C	15: 89,069,447 (GRCm39)	D528G	probably benign	Het
Dmtf1	T	A	5: 9,174,489 (GRCm39)	T484S	possibly damaging	Het
Dnaaf5	T	C	5: 139,138,596 (GRCm39)	V259A	probably damaging	Het
Dzip1l	A	T	9: 99,519,589 (GRCm39)	S39C	probably damaging	Het
Efcab8	T	A	2: 153,623,695 (GRCm39)	M60K		Het
Eml2	T	A	7: 18,920,035 (GRCm39)	V113D	possibly damaging	Het
Fnip1	A	T	11: 54,406,325 (GRCm39)	I1141F	probably benign	Het
Gm7298	T	A	6: 121,712,570 (GRCm39)	S127R	probably damaging	Het
Hcn2	G	A	10: 79,570,017 (GRCm39)	R622Q	possibly damaging	Het
Ift172	C	T	5: 31,423,723 (GRCm39)	W746*	probably null	Het
Irs1	A	G	1: 82,265,412 (GRCm39)	Y935H	probably damaging	Het
Kctd17	CAGCTGGAGGAGC	CAGC	15: 78,321,113 (GRCm39)		probably benign	Het
Klhl20	T	C	1: 160,936,827 (GRCm39)	I183V	probably benign	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,758,813 (GRCm39)		probably benign	Het
Lalba	T	C	15: 98,379,474 (GRCm39)	D103G	probably damaging	Het
Lpin3	T	C	2: 160,747,210 (GRCm39)	L822P	probably damaging	Het
Lrrc38	G	A	4: 143,076,845 (GRCm39)	C36Y	probably damaging	Het
Ly6e	T	C	15: 74,830,183 (GRCm39)	S46P	possibly damaging	Het
Nav2	T	C	7: 49,244,067 (GRCm39)	I2098T	probably benign	Het
Nipbl	T	C	15: 8,381,010 (GRCm39)	E594G	probably benign	Het
Or52k2	T	A	7: 102,253,853 (GRCm39)	H97Q	probably benign	Het
Parn	T	C	16: 13,425,117 (GRCm39)	D432G	probably damaging	Het
Pcdh20	A	G	14: 88,704,793 (GRCm39)	S836P	probably damaging	Het
Pcmtd2	C	T	2: 181,496,868 (GRCm39)	R282C	probably damaging	Het
Ppp2r3c	A	G	12: 55,328,490 (GRCm39)	I425T	probably benign	Het
Samm50	T	A	15: 84,085,081 (GRCm39)		probably null	Het
Sars1	C	T	3: 108,338,780 (GRCm39)		probably null	Het
Senp8	A	G	9: 59,645,121 (GRCm39)	Y12H	possibly damaging	Het
Slc13a4	T	C	6: 35,247,290 (GRCm39)	I577V	possibly damaging	Het
Srr	T	G	11: 74,803,961 (GRCm39)		probably null	Het
Steap2	T	A	5: 5,732,967 (GRCm39)	N19I	possibly damaging	Het
Sucla2	A	G	14: 73,806,433 (GRCm39)	Y168C	probably damaging	Het
Trim56	T	C	5: 137,143,510 (GRCm39)	N2S	probably benign	Het
Tubgcp6	T	A	15: 88,988,426 (GRCm39)	H849L	probably benign	Het
Uevld	A	G	7: 46,597,775 (GRCm39)	I72T	possibly damaging	Het
Ybx1	A	G	4: 119,136,164 (GRCm39)	*323Q	probably null	Het
Zfp354b	C	T	11: 50,819,390 (GRCm39)		probably null	Het
Zfp36l2	A	T	17: 84,494,346 (GRCm39)	L97Q	probably benign	Het
Zfp729a	T	A	13: 67,771,612 (GRCm39)	R78S	possibly damaging	Het

Other mutations in Tha1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00497:Tha1	APN	11	117,761,831 (GRCm39)	splice site	probably benign
IGL01434:Tha1	APN	11	117,759,425 (GRCm39)	missense	probably benign	0.31
IGL01658:Tha1	APN	11	117,762,438 (GRCm39)	missense	probably damaging	1.00
R0437:Tha1	UTSW	11	117,759,401 (GRCm39)	missense	probably benign	0.17
R0671:Tha1	UTSW	11	117,763,983 (GRCm39)	splice site	probably benign
R1958:Tha1	UTSW	11	117,760,179 (GRCm39)	unclassified	probably benign
R2127:Tha1	UTSW	11	117,760,600 (GRCm39)	missense	probably damaging	0.98
R3416:Tha1	UTSW	11	117,764,026 (GRCm39)	missense	possibly damaging	0.67
R4825:Tha1	UTSW	11	117,760,205 (GRCm39)	missense	probably damaging	1.00
R5145:Tha1	UTSW	11	117,760,502 (GRCm39)	missense	probably damaging	1.00
R5266:Tha1	UTSW	11	117,760,502 (GRCm39)	missense	probably damaging	1.00
R5267:Tha1	UTSW	11	117,760,502 (GRCm39)	missense	probably damaging	1.00
R5339:Tha1	UTSW	11	117,761,908 (GRCm39)	missense	possibly damaging	0.87
R5858:Tha1	UTSW	11	117,764,210 (GRCm39)	missense	unknown
R6820:Tha1	UTSW	11	117,762,504 (GRCm39)	missense	probably benign	0.00
R7399:Tha1	UTSW	11	117,760,516 (GRCm39)	missense	possibly damaging	0.86
R7905:Tha1	UTSW	11	117,761,893 (GRCm39)	missense	possibly damaging	0.91
R8094:Tha1	UTSW	11	117,759,323 (GRCm39)	missense	probably benign	0.00
R8322:Tha1	UTSW	11	117,759,493 (GRCm39)	missense	probably damaging	0.97
R9145:Tha1	UTSW	11	117,759,512 (GRCm39)	missense	probably damaging	1.00
R9703:Tha1	UTSW	11	117,761,863 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- AGACTCTTGGGGTGCAGATC -3'
(R):5'- GTTTCTCTAAGGTAGGCTGTCCTTC -3'

Sequencing Primer
(F):5'- GCACCTTTAGCGAATCTC -3'
(R):5'- AGCCTGACAGACCTGCTTG -3'

Posted On

2019-11-12