Mutagenetix > Incidental Mutation

Incidental Mutation 'R0427:Tubd1'

38769

Institutional Source

Beutler Lab

Gene Symbol

Tubd1

Ensembl Gene

ENSMUSG00000020513

Gene Name

tubulin, delta 1

Synonyms

4930550G19Rik

MMRRC Submission

038629-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.962) question?

Stock #

R0427 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

86435817-86458186 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 86448616 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 279 (Q279K)

Ref Sequence

ENSEMBL: ENSMUSP00000130909 (fasta)

Gene Model

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

AlphaFold

Q9R1K7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000020821
AA Change: Q310K

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000020821
Gene: ENSMUSG00000020513
AA Change: Q310K

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

possibly damaging
Transcript: ENSMUST00000069503
AA Change: Q279K

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000064383
Gene: ENSMUSG00000020513
AA Change: Q279K

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

possibly damaging
Transcript: ENSMUST00000108030
AA Change: Q310K

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000103665
Gene: ENSMUSG00000020513
AA Change: Q310K

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: Q59K

SMART Domains

Protein: ENSMUSP00000130621
Gene: ENSMUSG00000020513
AA Change: Q59K

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

possibly damaging
Transcript: ENSMUST00000167178
AA Change: Q279K

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000130909
Gene: ENSMUSG00000020513
AA Change: Q279K

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: 99.1%
3x: 98.3%
10x: 96.2%
20x: 92.9%

Validation Efficiency

Allele List at MGI

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

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam34	T	G	8: 44,105,493 (GRCm39)	T51P	probably benign	Het
Alpk1	A	T	3: 127,464,720 (GRCm39)	V1186E	probably damaging	Het
Ankfn1	T	C	11: 89,296,423 (GRCm39)	D102G	probably damaging	Het
Armc2	A	G	10: 41,876,406 (GRCm39)	I127T	possibly damaging	Het
Atp6v1b2	T	C	8: 69,554,084 (GRCm39)	L87P	probably damaging	Het
Atp9a	T	A	2: 168,482,617 (GRCm39)		probably null	Het
BC048679	C	G	7: 81,144,993 (GRCm39)	V123L	probably benign	Het
Birc7	G	A	2: 180,571,307 (GRCm39)		probably null	Het
Btbd9	C	T	17: 30,493,916 (GRCm39)	D492N	possibly damaging	Het
Cacna1d	T	A	14: 30,068,774 (GRCm39)	N155I	probably damaging	Het
Cd300lg	T	C	11: 101,933,852 (GRCm39)	V33A	probably damaging	Het
Cep290	A	G	10: 100,352,041 (GRCm39)	D742G	probably benign	Het
Cep95	A	G	11: 106,681,578 (GRCm39)	N14S	probably benign	Het
Cfap74	A	T	4: 155,525,734 (GRCm39)	M728L	probably benign	Het
Ctsll3	T	A	13: 60,949,205 (GRCm39)	T9S	probably benign	Het
Cyp3a44	A	G	5: 145,716,412 (GRCm39)	S393P	possibly damaging	Het
Dmbt1	T	A	7: 130,642,632 (GRCm39)	L150*	probably null	Het
Dnah2	A	G	11: 69,343,705 (GRCm39)	I2868T	probably damaging	Het
Dop1a	A	G	9: 86,389,585 (GRCm39)	H505R	probably damaging	Het
Exo1	A	G	1: 175,733,519 (GRCm39)	K781R	probably damaging	Het
Fam184a	A	G	10: 53,566,211 (GRCm39)	Y459H	probably damaging	Het
Foxp1	C	T	6: 98,907,164 (GRCm39)	D540N	probably damaging	Het
Fstl5	T	A	3: 76,615,034 (GRCm39)	Y698*	probably null	Het
Gm5141	T	C	13: 62,922,525 (GRCm39)	K215E	probably damaging	Het
Grik5	C	A	7: 24,757,923 (GRCm39)	R386L	probably benign	Het
Ikbke	A	T	1: 131,185,647 (GRCm39)	S620R	possibly damaging	Het
Kcnh3	A	T	15: 99,131,180 (GRCm39)	M518L	probably benign	Het
Lrrcc1	G	T	3: 14,623,416 (GRCm39)	A748S	probably damaging	Het
Mbd5	T	G	2: 49,169,091 (GRCm39)	S1191A	probably benign	Het
Med27	T	C	2: 29,390,283 (GRCm39)	I70T	probably damaging	Het
Mplkipl1	A	G	19: 61,163,908 (GRCm39)	Y176H	probably damaging	Het
Myh4	A	G	11: 67,149,479 (GRCm39)	D1737G	probably damaging	Het
Myo5a	A	G	9: 75,081,478 (GRCm39)	D1021G	probably benign	Het
Ncor1	T	C	11: 62,301,746 (GRCm39)	E212G	probably damaging	Het
Neb	A	T	2: 52,133,896 (GRCm39)	N3362K	possibly damaging	Het
Neb	A	G	2: 52,134,081 (GRCm39)	S3301P	probably damaging	Het
Neurod1	T	G	2: 79,284,526 (GRCm39)	K286Q	probably damaging	Het
Noc3l	T	C	19: 38,778,095 (GRCm39)	Q773R	probably benign	Het
Nup205	T	A	6: 35,171,398 (GRCm39)	N420K	probably benign	Het
Olfml3	A	T	3: 103,644,330 (GRCm39)	V113E	probably benign	Het
Opa1	T	C	16: 29,430,279 (GRCm39)	V439A	probably damaging	Het
Or13c7	A	G	4: 43,854,417 (GRCm39)	Y36C	probably damaging	Het
Or14j7	A	T	17: 38,234,520 (GRCm39)	H21L	probably benign	Het
Or1j14	C	T	2: 36,417,994 (GRCm39)	S190L	probably damaging	Het
Or1o11	T	A	17: 37,756,593 (GRCm39)	D60E	probably damaging	Het
Pcdhb11	T	C	18: 37,555,818 (GRCm39)	S383P	probably damaging	Het
Pkd1	T	C	17: 24,812,476 (GRCm39)	V3803A	probably damaging	Het
Plekhg1	A	G	10: 3,914,235 (GRCm39)	D1319G	probably benign	Het
Polq	T	A	16: 36,882,355 (GRCm39)	C1227*	probably null	Het
Pramel22	A	T	4: 143,380,993 (GRCm39)	N343K	probably benign	Het
Psmc1	T	C	12: 100,085,487 (GRCm39)	F283L	probably damaging	Het
Psmd8	T	C	7: 28,875,552 (GRCm39)	N189S	probably damaging	Het
Ptger4	G	A	15: 5,272,382 (GRCm39)	T104I	probably benign	Het
Ptpro	T	G	6: 137,345,294 (GRCm39)	V100G	possibly damaging	Het
Rab11fip1	T	A	8: 27,644,520 (GRCm39)	T422S	probably damaging	Het
Rad54l2	A	G	9: 106,570,891 (GRCm39)	L1143P	possibly damaging	Het
Rnf148	A	G	6: 23,654,072 (GRCm39)	M308T	probably damaging	Het
Sbsn	T	A	7: 30,451,523 (GRCm39)		probably benign	Het
Scube2	T	A	7: 109,424,044 (GRCm39)	T487S	probably benign	Het
Sema4c	C	A	1: 36,592,892 (GRCm39)	E109*	probably null	Het
Sipa1l2	A	T	8: 126,207,071 (GRCm39)	L544Q	probably damaging	Het
Slc28a2	A	G	2: 122,288,702 (GRCm39)	T603A	probably benign	Het
Tbc1d7	T	A	13: 43,306,563 (GRCm39)	T138S	probably benign	Het
Timd4	A	T	11: 46,710,084 (GRCm39)	T239S	probably benign	Het
Trp53bp1	A	G	2: 121,066,498 (GRCm39)	S743P	probably damaging	Het
Tspan10	T	A	11: 120,335,120 (GRCm39)	Y77N	probably damaging	Het
Ttc14	T	C	3: 33,857,633 (GRCm39)	S245P	probably damaging	Het
Ttf1	T	A	2: 28,955,054 (GRCm39)	S139R	probably benign	Het
Twnk	A	G	19: 44,996,026 (GRCm39)	E153G	probably benign	Het
Ush2a	A	G	1: 188,132,478 (GRCm39)	D900G	probably damaging	Het
Usp54	A	G	14: 20,620,432 (GRCm39)	V691A	probably benign	Het
Usp8	T	C	2: 126,559,952 (GRCm39)		probably benign	Het
Vmn1r231	C	T	17: 21,110,490 (GRCm39)	V142I	probably benign	Het
Vmn2r15	C	T	5: 109,434,953 (GRCm39)	A584T	probably damaging	Het
Vmn2r6	A	G	3: 64,467,008 (GRCm39)	S164P	probably damaging	Het
Vps16	A	G	2: 130,280,770 (GRCm39)	Y233C	probably benign	Het
Vwf	C	G	6: 125,650,902 (GRCm39)	H2511D	probably benign	Het
Wipf3	T	G	6: 54,460,882 (GRCm39)	L110R	possibly damaging	Het
Zfp945	T	A	17: 23,084,226 (GRCm39)	N11I	probably benign	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
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
R9166:Tubd1	UTSW	11	86,452,091 (GRCm39)	missense	probably benign
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

PCR Primer
(F):5'- TGCTCTGTAGCACGCATTGTGTC -3'
(R):5'- AGCCAGTTTATACCCAGGACTCCAG -3'

Sequencing Primer
(F):5'- GCACGCATTGTGTCTAAAAATTCAC -3'
(R):5'- GACTCCAGGACAGGCACTTC -3'

Posted On

2013-05-23