Mutagenetix > Incidental Mutation

Incidental Mutation 'R9166:Tubd1'

696076

Institutional Source

Beutler Lab

Gene Symbol

Tubd1

Ensembl Gene

ENSMUSG00000020513

Gene Name

tubulin, delta 1

Synonyms

4930550G19Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.962) question?

Stock #

R9166 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

86435817-86458186 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 86452091 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 353 (T353S)

Ref Sequence

ENSEMBL: ENSMUSP00000020821 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020821] [ENSMUST00000069503] [ENSMUST00000108030] [ENSMUST00000167178]

AlphaFold

Q9R1K7

Predicted Effect

probably benign
Transcript: ENSMUST00000020821
AA Change: T353S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000020821
Gene: ENSMUSG00000020513
AA Change: T353S

Domain	Start	End	E-Value	Type
Tubulin	47	246	2.91e-30	SMART
Blast:Tubulin	273	323	1e-12	BLAST
SCOP:d1tubb2	289	481	6e-25	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000069503
AA Change: T322S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000064383
Gene: ENSMUSG00000020513
AA Change: T322S

Domain	Start	End	E-Value	Type
Tubulin	47	246	2.91e-30	SMART
SCOP:d1tubb2	256	450	1e-25	SMART
Blast:Tubulin	258	292	1e-11	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000108030
AA Change: T353S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000103665
Gene: ENSMUSG00000020513
AA Change: T353S

Domain	Start	End	E-Value	Type
Tubulin	47	246	2.91e-30	SMART
Blast:Tubulin	273	323	1e-12	BLAST
SCOP:d1tubb2	289	481	6e-25	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000164931

SMART Domains

Protein: ENSMUSP00000130621
Gene: ENSMUSG00000020513

Domain	Start	End	E-Value	Type
Blast:Tubulin	2	27	1e-8	BLAST
SCOP:d1tubb2	37	184	2e-22	SMART
Blast:Tubulin	38	73	2e-13	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000167178
AA Change: T322S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000130909
Gene: ENSMUSG00000020513
AA Change: T322S

Domain	Start	End	E-Value	Type
Tubulin	47	246	2.91e-30	SMART
SCOP:d1tubb2	256	450	1e-25	SMART
Blast:Tubulin	258	292	1e-11	BLAST

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (70/70)

Allele List at MGI

All alleles(5) : Targeted(2) Gene trapped(3)

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438H23Rik	A	G	16: 90,853,046 (GRCm39)	L30P	possibly damaging	Het
Adgrb1	A	C	15: 74,420,475 (GRCm39)	M875L	probably benign	Het
Amot	A	T	X: 144,244,745 (GRCm39)	L435H		Het
Ankrd13c	T	A	3: 157,705,357 (GRCm39)	S427T	probably benign	Het
Aopep	G	A	13: 63,318,862 (GRCm39)		probably null	Het
Ap3b1	A	C	13: 94,608,236 (GRCm39)	Y569S	probably damaging	Het
Bco2	A	G	9: 50,447,667 (GRCm39)	V352A	probably benign	Het
Bltp1	T	A	3: 37,041,516 (GRCm39)	N2630K	probably damaging	Het
Cacnb1	T	A	11: 97,910,534 (GRCm39)	D48V	probably damaging	Het
Cdr2l	C	A	11: 115,283,537 (GRCm39)	Q132K	probably benign	Het
Chrd	T	C	16: 20,554,572 (GRCm39)	M377T	probably benign	Het
Coq7	T	C	7: 118,109,365 (GRCm39)	T228A	unknown	Het
D7Ertd443e	G	A	7: 133,900,048 (GRCm39)	T438I	probably benign	Het
Dlc1	C	T	8: 37,066,589 (GRCm39)	E15K	probably damaging	Het
Dlgap5	C	T	14: 47,651,206 (GRCm39)	R109Q	probably damaging	Het
Dysf	T	C	6: 84,126,959 (GRCm39)	V1359A	probably damaging	Het
E2f7	C	T	10: 110,618,085 (GRCm39)	P717S	probably benign	Het
Elmo2	T	C	2: 165,132,438 (GRCm39)	D669G	probably benign	Het
Epha6	A	G	16: 60,425,238 (GRCm39)	V125A	probably benign	Het
Erg	G	T	16: 95,190,807 (GRCm39)	H119N	probably benign	Het
Fam13b	T	C	18: 34,595,252 (GRCm39)	S371G	probably benign	Het
Fancg	G	C	4: 43,006,800 (GRCm39)	Q297E	probably benign	Het
Gas2	A	G	7: 51,586,323 (GRCm39)	E145G	possibly damaging	Het
Gas7	T	C	11: 67,561,446 (GRCm39)	V218A	probably benign	Het
Gm9970	A	G	5: 31,398,345 (GRCm39)	S78P	unknown	Het
Hectd4	A	C	5: 121,446,690 (GRCm39)	D259A	probably damaging	Het
Hoxb2	T	G	11: 96,244,339 (GRCm39)	S317A	probably damaging	Het
Hspg2	T	C	4: 137,270,185 (GRCm39)	L2381P	probably damaging	Het
Irf4	A	T	13: 30,941,484 (GRCm39)	H280L	probably benign	Het
Irf7	A	G	7: 140,844,666 (GRCm39)	V142A	probably benign	Het
Kat7	T	C	11: 95,190,928 (GRCm39)	I94V	probably benign	Het
Kera	T	A	10: 97,448,830 (GRCm39)	I350K	possibly damaging	Het
Klf15	T	C	6: 90,443,952 (GRCm39)	S176P	probably benign	Het
Lrrc59	C	A	11: 94,522,959 (GRCm39)	T53N	probably benign	Het
Morn5	T	C	2: 35,945,024 (GRCm39)	Y83H	probably damaging	Het
Myef2l	A	G	3: 10,153,849 (GRCm39)	N206S	probably benign	Het
Neil3	A	C	8: 54,058,722 (GRCm39)	M273R	probably damaging	Het
Ngfr	A	T	11: 95,465,047 (GRCm39)	V267E	possibly damaging	Het
Nudc	T	C	4: 133,273,165 (GRCm39)	D11G	probably damaging	Het
Or2t1	A	T	14: 14,329,059 (GRCm38)	D316V	probably benign	Het
Or4a81	T	A	2: 89,619,291 (GRCm39)	N135I	probably damaging	Het
Pde8a	C	T	7: 80,982,619 (GRCm39)	T746I	probably damaging	Het
Pik3cg	C	T	12: 32,242,213 (GRCm39)	G966R	probably damaging	Het
Ppfibp1	A	G	6: 146,920,980 (GRCm39)	T573A	probably damaging	Het
Ppp2r5a	C	A	1: 191,128,504 (GRCm39)	R37L	probably benign	Het
Prpf8	T	C	11: 75,387,340 (GRCm39)	F1207S	possibly damaging	Het
Prtg	A	T	9: 72,764,107 (GRCm39)	I527F	probably damaging	Het
Pspc1	A	G	14: 56,999,305 (GRCm39)	M317T	probably damaging	Het
Ptpru	C	T	4: 131,525,180 (GRCm39)	V768I	probably benign	Het
Ptx4	A	G	17: 25,343,546 (GRCm39)		probably null	Het
Ralgapb	T	C	2: 158,274,842 (GRCm39)		probably null	Het
Rhobtb2	C	A	14: 70,034,703 (GRCm39)	G174V	probably damaging	Het
Sdad1	G	T	5: 92,446,080 (GRCm39)	S285*	probably null	Het
Sema4f	G	T	6: 82,890,626 (GRCm39)	S727*	probably null	Het
Sik1	A	G	17: 32,069,727 (GRCm39)	F241L	probably damaging	Het
Slc8b1	T	C	5: 120,662,096 (GRCm39)	S279P	probably benign	Het
Slco4a1	A	G	2: 180,106,034 (GRCm39)	E72G	probably benign	Het
Smok3c	A	T	5: 138,063,781 (GRCm39)	T423S	possibly damaging	Het
Sorcs3	T	C	19: 48,784,811 (GRCm39)	V1078A	probably benign	Het
Sptb	A	G	12: 76,673,776 (GRCm39)	V337A	probably damaging	Het
Tet2	C	A	3: 133,173,933 (GRCm39)	G1443V	probably damaging	Het
Ticam2	A	T	18: 46,694,048 (GRCm39)	L13H	probably damaging	Het
Tnrc6a	A	G	7: 122,786,624 (GRCm39)	E1562G	probably damaging	Het
Trim24	A	T	6: 37,934,074 (GRCm39)	K742N	probably damaging	Het
Trim56	A	T	5: 137,142,751 (GRCm39)	V255E	probably damaging	Het
Trmt12	A	G	15: 58,744,608 (GRCm39)	E2G	probably benign	Het
Vim	T	C	2: 13,579,556 (GRCm39)	V105A	probably benign	Het
Vmn2r58	A	T	7: 41,513,431 (GRCm39)	V404E	probably damaging	Het
Wdr62	G	A	7: 29,941,874 (GRCm39)	P1115L	probably damaging	Het
Wfdc12	G	T	2: 164,032,193 (GRCm39)	C32*	probably null	Het
Zfp750	T	A	11: 121,403,980 (GRCm39)	R298S	probably damaging	Het

Other mutations in Tubd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00159:Tubd1	APN	11	86,456,555 (GRCm39)	missense	probably benign	0.07
IGL00465:Tubd1	APN	11	86,445,894 (GRCm39)	splice site	probably benign
IGL03088:Tubd1	APN	11	86,443,825 (GRCm39)	missense	probably damaging	1.00
IGL03383:Tubd1	APN	11	86,439,834 (GRCm39)	splice site	probably benign
R0039:Tubd1	UTSW	11	86,440,221 (GRCm39)	nonsense	probably null
R0427:Tubd1	UTSW	11	86,448,616 (GRCm39)	missense	possibly damaging	0.94
R0482:Tubd1	UTSW	11	86,448,602 (GRCm39)	missense	possibly damaging	0.89
R2305:Tubd1	UTSW	11	86,446,017 (GRCm39)	missense	probably benign	0.38
R4153:Tubd1	UTSW	11	86,440,296 (GRCm39)	missense	probably damaging	1.00
R4436:Tubd1	UTSW	11	86,439,745 (GRCm39)	missense	probably benign	0.02
R4773:Tubd1	UTSW	11	86,446,128 (GRCm39)	missense	possibly damaging	0.83
R4793:Tubd1	UTSW	11	86,457,895 (GRCm39)	missense	probably benign	0.19
R4890:Tubd1	UTSW	11	86,443,621 (GRCm39)	missense	possibly damaging	0.83
R4908:Tubd1	UTSW	11	86,457,879 (GRCm39)	missense	probably damaging	1.00
R4990:Tubd1	UTSW	11	86,448,665 (GRCm39)	missense	probably damaging	1.00
R5004:Tubd1	UTSW	11	86,452,146 (GRCm39)	missense	probably damaging	0.98
R6192:Tubd1	UTSW	11	86,448,619 (GRCm39)	missense	probably benign	0.32
R7108:Tubd1	UTSW	11	86,448,631 (GRCm39)	missense	probably damaging	0.99
R8207:Tubd1	UTSW	11	86,440,248 (GRCm39)	missense	possibly damaging	0.88
R8254:Tubd1	UTSW	11	86,440,264 (GRCm39)	missense	probably damaging	1.00
R8962:Tubd1	UTSW	11	86,439,659 (GRCm39)	start codon destroyed	probably null	1.00
R9024:Tubd1	UTSW	11	86,445,991 (GRCm39)	missense	possibly damaging	0.62
R9207:Tubd1	UTSW	11	86,456,537 (GRCm39)	missense	probably benign	0.03
R9508:Tubd1	UTSW	11	86,448,640 (GRCm39)	missense	probably damaging	1.00
Z1088:Tubd1	UTSW	11	86,440,296 (GRCm39)	missense	probably damaging	1.00
Z1088:Tubd1	UTSW	11	86,445,993 (GRCm39)	missense	probably damaging	1.00
Z1176:Tubd1	UTSW	11	86,440,231 (GRCm39)	missense	possibly damaging	0.94
Z1177:Tubd1	UTSW	11	86,443,724 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

Posted On

2022-02-07