Mutagenetix > Incidental Mutations

Incidental Mutation 'R4990:Tubd1'

386149

Institutional Source

Beutler Lab

Gene Symbol

Tubd1

Ensembl Gene

ENSMUSG00000020513

Gene Name

tubulin, delta 1

Synonyms

4930550G19Rik

MMRRC Submission

042584-MU

Accession Numbers

Ncbi RefSeq: NM_001199045.1, NM_019756.3, NM_001199046.1, NM_001199047.1; MGI:1891826

Is this an essential gene?

Probably essential (E-score: 0.950) question?

Stock #

R4990 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

86544991-86567360 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 86557839 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 295 (L295P)

Ref Sequence

ENSEMBL: ENSMUSP00000130909 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000020821
AA Change: L326P

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

SMART Domains

Protein: ENSMUSP00000020821
Gene: ENSMUSG00000020513
AA Change: L326P

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 damaging
Transcript: ENSMUST00000069503
AA Change: L295P

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

SMART Domains

Protein: ENSMUSP00000064383
Gene: ENSMUSG00000020513
AA Change: L295P

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 damaging
Transcript: ENSMUST00000108030
AA Change: L326P

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

SMART Domains

Protein: ENSMUSP00000103665
Gene: ENSMUSG00000020513
AA Change: L326P

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

unknown
Transcript: ENSMUST00000164931
AA Change: L75P

SMART Domains

Protein: ENSMUSP00000130621
Gene: ENSMUSG00000020513
AA Change: L75P

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 damaging
Transcript: ENSMUST00000167178
AA Change: L295P

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

SMART Domains

Protein: ENSMUSP00000130909
Gene: ENSMUSG00000020513
AA Change: L295P

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: 99.3%
3x: 98.6%
10x: 97.0%
20x: 94.4%

Validation Efficiency

Allele List at MGI

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

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	C	1: 71,294,939	I1135V	possibly damaging	Het
Abca14	G	A	7: 120,312,165	R1324K	probably benign	Het
Amer3	A	C	1: 34,588,741	D687A	probably benign	Het
Aplnr	G	A	2: 85,137,377	V249M	probably damaging	Het
Atg16l1	A	G	1: 87,789,369	K471R	probably benign	Het
Cacna1b	A	G	2: 24,678,874		probably null	Het
Ccdc152	A	G	15: 3,301,157	I12T	probably benign	Het
Cds1	A	G	5: 101,798,379	Y148C	probably damaging	Het
Cenpe	T	A	3: 135,256,640	L1989Q	probably damaging	Het
Cep295	T	C	9: 15,332,138	Q1674R	probably damaging	Het
D930020B18Rik	C	G	10: 121,654,761	P89A	probably damaging	Het
D930020B18Rik	C	T	10: 121,654,762	P89L	probably damaging	Het
Dock2	T	C	11: 34,695,251	M535V	probably damaging	Het
Dscam	A	G	16: 96,825,515	V398A	probably benign	Het
Elmo1	T	C	13: 20,342,519	F413S	probably damaging	Het
Emb	T	A	13: 117,264,510	N198K	probably damaging	Het
Eno3	A	G	11: 70,658,647	D98G	probably damaging	Het
Fbp1	C	T	13: 62,865,074	V102I	probably benign	Het
Fbxw18	T	C	9: 109,688,393	E414G	probably damaging	Het
Gm16432	A	C	1: 178,098,421	I218L	probably benign	Het
Gm5861	A	T	5: 11,186,414	E138V	probably damaging	Het
Grem2	A	G	1: 174,836,813	C157R	probably damaging	Het
Hnrnpr	A	G	4: 136,329,379	E230G	probably damaging	Het
Hnrnpr	G	A	4: 136,336,298	V239I	probably damaging	Het
Ipo11	A	T	13: 106,860,887	I688K	probably benign	Het
Irx4	G	T	13: 73,265,507	R32L	probably benign	Het
Kcnh7	T	C	2: 62,734,288	N876D	probably benign	Het
Klk1b26	T	A	7: 44,016,249		probably null	Het
Lrp2	G	T	2: 69,481,388	T2582K	probably benign	Het
Lrriq1	A	G	10: 103,200,559	I911T	probably damaging	Het
Megf6	A	G	4: 154,267,226	E1132G	possibly damaging	Het
Mesp1	A	G	7: 79,792,921	Y203H	probably damaging	Het
Ms4a4a	T	C	19: 11,378,837	S29P	probably benign	Het
Nbeal2	A	C	9: 110,634,803	C1174G	probably benign	Het
Neb	C	T	2: 52,255,546	V2989I	probably benign	Het
Nkx2-1	T	C	12: 56,534,939	Y41C	possibly damaging	Het
Nrxn3	T	A	12: 89,260,474	I293N	probably damaging	Het
Nt5e	A	G	9: 88,355,593	N192S	probably benign	Het
Ntng1	A	T	3: 110,135,261		probably null	Het
Olfr1215	A	T	2: 89,001,472	I272K	probably damaging	Het
Olfr1229	A	T	2: 89,283,327		probably null	Het
Olfr411	A	G	11: 74,347,197	I129T	probably damaging	Het
Olfr45	G	A	7: 140,691,447	E181K	probably damaging	Het
Panx1	A	G	9: 15,010,217	Y121H	probably damaging	Het
Pcsk4	A	G	10: 80,325,381	I233T	possibly damaging	Het
Pgm3	T	A	9: 86,558,412	I409F	probably damaging	Het
Plg	T	C	17: 12,411,510	Y645H	probably benign	Het
Pon3	T	C	6: 5,221,619	H337R	probably benign	Het
Rasa2	A	G	9: 96,591,989	I162T	probably benign	Het
Ror1	A	G	4: 100,441,964	I845V	probably benign	Het
Rpl4	T	C	9: 64,174,885	V22A	probably benign	Het
Ryr3	G	T	2: 112,635,777	Q4746K	probably damaging	Het
Ryr3	T	C	2: 112,909,973	N531S	probably damaging	Het
Sbno1	A	T	5: 124,400,165	F571I	probably damaging	Het
Scarf1	T	C	11: 75,526,015	V761A	probably benign	Het
Sec22b	T	G	3: 97,921,111		probably null	Het
Slc45a2	A	G	15: 11,001,150	M112V	probably benign	Het
Snai3	G	A	8: 122,456,332	T158M	possibly damaging	Het
Spata31d1a	T	C	13: 59,703,151	N388D	probably benign	Het
Sv2b	T	C	7: 75,117,722	N642S	possibly damaging	Het
Svil	T	A	18: 5,056,810	I561K	probably benign	Het
Trappc11	A	T	8: 47,490,895	D1127E	probably benign	Het
Triobp	C	A	15: 78,967,005	A453D	probably benign	Het
Ulk4	C	T	9: 121,192,786	V620I	probably benign	Het
Vmn2r39	A	G	7: 9,023,676	I442T	probably benign	Het
Wwc1	T	C	11: 35,876,566	T413A	probably benign	Het
Zfp131	A	C	13: 119,782,913	V77G	probably damaging	Het
Zfyve26	T	C	12: 79,287,833	D137G	probably damaging	Het

Other mutations in Tubd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00159:Tubd1	APN	11	86565729	missense	probably benign	0.07
IGL00465:Tubd1	APN	11	86555068	splice site	probably benign
IGL03088:Tubd1	APN	11	86552999	missense	probably damaging	1.00
IGL03383:Tubd1	APN	11	86549008	splice site	probably benign
R0039:Tubd1	UTSW	11	86549395	nonsense	probably null
R0427:Tubd1	UTSW	11	86557790	missense	possibly damaging	0.94
R0482:Tubd1	UTSW	11	86557776	missense	possibly damaging	0.89
R2305:Tubd1	UTSW	11	86555191	missense	probably benign	0.38
R4153:Tubd1	UTSW	11	86549470	missense	probably damaging	1.00
R4436:Tubd1	UTSW	11	86548919	missense	probably benign	0.02
R4773:Tubd1	UTSW	11	86555302	missense	possibly damaging	0.83
R4793:Tubd1	UTSW	11	86567069	missense	probably benign	0.19
R4890:Tubd1	UTSW	11	86552795	missense	possibly damaging	0.83
R4908:Tubd1	UTSW	11	86567053	missense	probably damaging	1.00
R5004:Tubd1	UTSW	11	86561320	missense	probably damaging	0.98
R6192:Tubd1	UTSW	11	86557793	missense	probably benign	0.32
R7108:Tubd1	UTSW	11	86557805	missense	probably damaging	0.99
R8207:Tubd1	UTSW	11	86549422	missense	possibly damaging	0.88
R8254:Tubd1	UTSW	11	86549438	missense	probably damaging	1.00
Z1088:Tubd1	UTSW	11	86555167	missense	probably damaging	1.00
Z1088:Tubd1	UTSW	11	86549470	missense	probably damaging	1.00
Z1176:Tubd1	UTSW	11	86549405	missense	possibly damaging	0.94
Z1177:Tubd1	UTSW	11	86552898	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCATTGTGGGTGAGGTCAATC -3'
(R):5'- TCCAGATGAAACTGTAAAGCCATCAAG -3'

Sequencing Primer
(F):5'- GAGGTCAATCGAGTTCACATTGC -3'
(R):5'- ACTCCGCGAGTTTCCATAGGAG -3'

Posted On

2016-05-10