Mutagenetix > Incidental Mutation

Incidental Mutation 'R4890:Tubd1'

377277

Institutional Source

Beutler Lab

Gene Symbol

Tubd1

Ensembl Gene

ENSMUSG00000020513

Gene Name

tubulin, delta 1

Synonyms

4930550G19Rik

MMRRC Submission

042495-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.962) question?

Stock #

R4890 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

86435817-86458186 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 86443621 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 110 (V110L)

Ref Sequence

ENSEMBL: ENSMUSP00000103665 (fasta)

Gene Model

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

AlphaFold

Q9R1K7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000020821
AA Change: V110L

PolyPhen 2 Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000020821
Gene: ENSMUSG00000020513
AA Change: V110L

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: V110L

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000064383
Gene: ENSMUSG00000020513
AA Change: V110L

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: V110L

PolyPhen 2 Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000103665
Gene: ENSMUSG00000020513
AA Change: V110L

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

possibly damaging
Transcript: ENSMUST00000167178
AA Change: V110L

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000130909
Gene: ENSMUSG00000020513
AA Change: V110L

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

Meta Mutation Damage Score

0.2075

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.4%

Validation Efficiency

99% (81/82)

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
AA986860	T	C	1: 130,668,725 (GRCm39)		probably benign	Het
Adcy4	C	T	14: 56,016,486 (GRCm39)	D322N	probably damaging	Het
Adgrb3	T	C	1: 25,260,908 (GRCm39)	N916S	probably damaging	Het
Aox1	T	C	1: 58,373,862 (GRCm39)	V841A	probably benign	Het
Baz2b	A	T	2: 59,756,383 (GRCm39)	M983K	probably damaging	Het
C2cd2l	A	G	9: 44,222,430 (GRCm39)	F682L	probably damaging	Het
Ccsap	T	G	8: 124,572,160 (GRCm39)	E114A	possibly damaging	Het
Cept1	T	A	3: 106,413,123 (GRCm39)	T201S	probably damaging	Het
Cfap221	T	C	1: 119,883,476 (GRCm39)	M232V	probably benign	Het
Chsy1	A	G	7: 65,759,974 (GRCm39)	R106G	probably benign	Het
Cit	C	T	5: 116,126,182 (GRCm39)		probably benign	Het
Cldn7	G	A	11: 69,857,918 (GRCm39)	V42I	probably benign	Het
Cnnm4	T	A	1: 36,511,345 (GRCm39)	V191E	probably benign	Het
Cntf	A	T	19: 12,741,326 (GRCm39)	V178D	possibly damaging	Het
Ctsz	C	A	2: 174,270,393 (GRCm39)	R263L	probably damaging	Het
Dclk1	T	C	3: 55,429,353 (GRCm39)	M407T	probably benign	Het
Dennd1a	A	T	2: 38,066,238 (GRCm39)		probably benign	Het
Dnhd1	A	G	7: 105,306,164 (GRCm39)	I368V	possibly damaging	Het
Gak	A	T	5: 108,728,742 (GRCm39)		probably benign	Het
Hepacam2	A	T	6: 3,487,231 (GRCm39)	V42D	probably damaging	Het
Il1rl2	CTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT	CTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT	1: 40,366,470 (GRCm39)		probably benign	Het
Insr	T	A	8: 3,248,234 (GRCm39)	Q437L	probably benign	Het
Itga8	G	A	2: 12,198,102 (GRCm39)		probably benign	Het
Kansl1	A	T	11: 104,233,868 (GRCm39)	C732S	probably benign	Het
Kdsr	T	C	1: 106,680,964 (GRCm39)	K78R	probably benign	Het
Kif14	T	C	1: 136,414,868 (GRCm39)	S785P	possibly damaging	Het
Lbr	C	A	1: 181,645,133 (GRCm39)	L506F	probably benign	Het
Macf1	C	A	4: 123,342,031 (GRCm39)	C2720F	probably damaging	Het
Mapt	G	A	11: 104,218,975 (GRCm39)	D738N	probably damaging	Het
Mroh9	T	C	1: 162,854,093 (GRCm39)	Y769C	probably damaging	Het
Mylk2	A	G	2: 152,762,274 (GRCm39)	N515S	possibly damaging	Het
Myorg	G	A	4: 41,498,877 (GRCm39)	T251M	probably benign	Het
Nek10	T	A	14: 14,860,986 (GRCm38)	L513M	possibly damaging	Het
Nrxn2	A	T	19: 6,498,308 (GRCm39)	S258C	possibly damaging	Het
Nudt16l2	A	T	9: 105,021,786 (GRCm39)	S87T	possibly damaging	Het
Or52e15	G	A	7: 104,645,311 (GRCm39)	H267Y	probably benign	Het
Or5m12	C	T	2: 85,735,092 (GRCm39)	C102Y	possibly damaging	Het
Or6c1b	C	T	10: 129,272,948 (GRCm39)	T89I	probably benign	Het
Or6z5	T	A	7: 6,477,848 (GRCm39)	C246*	probably null	Het
Or8c15	G	T	9: 38,120,586 (GRCm39)	C79F	probably benign	Het
Osgin2	G	A	4: 16,013,739 (GRCm39)		probably benign	Het
Otud3	G	A	4: 138,641,060 (GRCm39)	R27W	probably damaging	Het
Pcare	C	T	17: 72,059,306 (GRCm39)	V124I	possibly damaging	Het
Pcdhga12	T	A	18: 37,901,290 (GRCm39)	F707L	possibly damaging	Het
Pik3r1	T	C	13: 101,894,118 (GRCm39)	E17G	probably damaging	Het
Pramel19	A	G	4: 101,798,788 (GRCm39)	E253G	probably damaging	Het
Prickle4	AAGAGAGAGAGAGAGA	AAGAGAGAGAGAGA	17: 48,000,806 (GRCm39)		probably benign	Het
Prokr1	G	A	6: 87,565,678 (GRCm39)	R56W	probably benign	Het
Ptprz1	G	A	6: 23,024,957 (GRCm39)	C1731Y	probably damaging	Het
Rbm15b	A	T	9: 106,763,028 (GRCm39)	F380Y	possibly damaging	Het
Rfc5	G	A	5: 117,524,885 (GRCm39)	L56F	probably damaging	Het
Rhpn2	A	T	7: 35,090,228 (GRCm39)	M617L	probably benign	Het
Rusc1	T	C	3: 88,995,577 (GRCm39)		probably null	Het
Sec23ip	A	G	7: 128,354,634 (GRCm39)	N297D	probably damaging	Het
Sema3c	A	T	5: 17,880,157 (GRCm39)	H259L	probably benign	Het
Sgsm1	G	A	5: 113,428,328 (GRCm39)		probably benign	Het
Shisal2a	A	G	4: 108,224,998 (GRCm39)	V188A	probably benign	Het
Sipa1l2	T	A	8: 126,218,606 (GRCm39)	S244C	probably damaging	Het
Slc39a5	T	C	10: 128,234,316 (GRCm39)	I196V	probably benign	Het
Smim22	G	A	16: 4,825,722 (GRCm39)	A36T	probably damaging	Het
Spag6	A	G	2: 18,747,588 (GRCm39)	I408V	probably benign	Het
Sult2a5	A	G	7: 13,359,311 (GRCm39)	I96V	probably benign	Het
Tmcc2	C	A	1: 132,308,517 (GRCm39)	A126S	probably benign	Het
Tsc2	A	T	17: 24,819,009 (GRCm39)	S1276T	probably damaging	Het
Ttc21a	A	G	9: 119,788,103 (GRCm39)	S843G	probably benign	Het
Ugt1a2	T	A	1: 88,128,534 (GRCm39)	V59D	probably damaging	Het
Vmn2r-ps158	A	G	7: 42,697,024 (GRCm39)	R687G	probably damaging	Het
Vsig8	T	A	1: 172,389,142 (GRCm39)	H131Q	probably benign	Het
Zbtb42	C	A	12: 112,646,861 (GRCm39)	Y345*	probably null	Het
Zfp612	T	A	8: 110,816,576 (GRCm39)	C594*	probably null	Het
Zfp940	A	G	7: 29,544,824 (GRCm39)	V361A	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
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
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'- TCCATTGTTCTCAGTTAAAAGGAAC -3'
(R):5'- ATACCTCACCCGTTCCATAAGG -3'

Sequencing Primer
(F):5'- GGAACTTCCTAAGTCCTGTAAATG -3'
(R):5'- CCGTTCCATAAGGCCATATAATCTGG -3'

Posted On

2016-03-17