Mutagenetix > Incidental Mutation

Incidental Mutation 'R6192:Tubd1'

502665

Institutional Source

Beutler Lab

Gene Symbol

Tubd1

Ensembl Gene

ENSMUSG00000020513

Gene Name

tubulin, delta 1

Synonyms

4930550G19Rik

MMRRC Submission

044332-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.962) question?

Stock #

R6192 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

86435817-86458186 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 86448619 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 311 (M311L)

Ref Sequence

ENSEMBL: ENSMUSP00000103665 (fasta)

Gene Model

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

AlphaFold

Q9R1K7

Predicted Effect

probably benign
Transcript: ENSMUST00000020821
AA Change: M311L

PolyPhen 2 Score 0.323 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000020821
Gene: ENSMUSG00000020513
AA Change: M311L

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: M280L

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000064383
Gene: ENSMUSG00000020513
AA Change: M280L

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: M311L

PolyPhen 2 Score 0.323 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000103665
Gene: ENSMUSG00000020513
AA Change: M311L

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: M60L

SMART Domains

Protein: ENSMUSP00000130621
Gene: ENSMUSG00000020513
AA Change: M60L

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: M280L

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000130909
Gene: ENSMUSG00000020513
AA Change: M280L

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: 99.6%
20x: 98.8%

Validation Efficiency

100% (75/75)

Allele List at MGI

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

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts9	T	C	6: 92,774,002 (GRCm39)	E1137G	probably damaging	Het
Adcy9	T	C	16: 4,105,818 (GRCm39)	I1099V	probably benign	Het
Angptl4	A	T	17: 33,996,015 (GRCm39)	N320K	probably benign	Het
Atp6v0a2	G	A	5: 124,767,268 (GRCm39)	M10I	probably benign	Het
Bltp1	C	T	3: 37,042,318 (GRCm39)	T2768I	probably benign	Het
Cbfa2t3	A	G	8: 123,361,135 (GRCm39)	S395P	probably benign	Het
Cenpe	C	T	3: 134,954,291 (GRCm39)	T1716I	possibly damaging	Het
Chsy1	T	C	7: 65,820,625 (GRCm39)	Y287H	probably benign	Het
Col4a4	G	T	1: 82,462,151 (GRCm39)	P1075T	probably damaging	Het
Cryab	T	A	9: 50,665,813 (GRCm39)	M68K	probably damaging	Het
Cybrd1	T	A	2: 70,967,858 (GRCm39)	L143Q	probably null	Het
Dcaf7	T	C	11: 105,942,584 (GRCm39)	V177A	probably damaging	Het
Dclk2	T	C	3: 86,722,457 (GRCm39)	Y392C	probably damaging	Het
Ddx20	T	C	3: 105,586,036 (GRCm39)	T770A	probably benign	Het
Dennd1b	T	A	1: 139,095,456 (GRCm39)	D501E	probably benign	Het
Dgkh	A	T	14: 78,865,504 (GRCm39)	Y26*	probably null	Het
Dnajc2	A	G	5: 21,973,646 (GRCm39)	V196A	probably damaging	Het
Etl4	A	G	2: 20,806,362 (GRCm39)	K827E	probably damaging	Het
Fam8a1	C	T	13: 46,823,099 (GRCm39)	P13L	probably damaging	Het
Gfra3	T	C	18: 34,837,582 (GRCm39)	S139G	possibly damaging	Het
Ggnbp1	G	A	17: 27,248,847 (GRCm39)	V139I	possibly damaging	Het
Gja1	T	A	10: 56,264,330 (GRCm39)	Y230N	probably damaging	Het
Gldc	A	G	19: 30,111,172 (GRCm39)	S535P	probably damaging	Het
Gm45871	A	G	18: 90,610,357 (GRCm39)	T532A	probably benign	Het
Gm5431	T	A	11: 48,785,220 (GRCm39)	D107V	probably benign	Het
Herc2	C	T	7: 55,857,510 (GRCm39)	T4031M	probably damaging	Het
Iffo2	G	A	4: 139,333,769 (GRCm39)	A282T	probably damaging	Het
Ifi44	T	G	3: 151,451,276 (GRCm39)		probably null	Het
Igkv4-53	C	T	6: 69,625,915 (GRCm39)	R62H	possibly damaging	Het
Lrp11	A	C	10: 7,474,454 (GRCm39)		probably null	Het
Lrp4	A	G	2: 91,338,833 (GRCm39)	T1755A	probably benign	Het
Mcm3ap	A	T	10: 76,336,934 (GRCm39)	K1316M	probably damaging	Het
Mctp1	T	G	13: 76,971,082 (GRCm39)		probably null	Het
Mroh5	A	T	15: 73,662,630 (GRCm39)	I396N	probably damaging	Het
Mrps5	T	A	2: 127,443,305 (GRCm39)	H294Q	probably damaging	Het
Muc16	A	T	9: 18,569,985 (GRCm39)	S845T	unknown	Het
Mycbpap	A	T	11: 94,398,557 (GRCm39)	V474E	probably damaging	Het
Mzt2	G	C	16: 15,666,551 (GRCm39)	S122W	probably benign	Het
Neb	T	C	2: 52,146,802 (GRCm39)	I2821V	probably benign	Het
Ngef	A	T	1: 87,415,622 (GRCm39)	D347E	probably damaging	Het
Nlrp14	T	C	7: 106,781,646 (GRCm39)	V281A	probably benign	Het
Obscn	A	T	11: 58,888,864 (GRCm39)	Y7597N	unknown	Het
Or4k47	T	C	2: 111,451,520 (GRCm39)	R300G	possibly damaging	Het
Patj	G	T	4: 98,344,394 (GRCm39)	G569W	probably damaging	Het
Pdzrn4	A	T	15: 92,655,562 (GRCm39)	E485V	probably damaging	Het
Phf2	T	A	13: 48,973,583 (GRCm39)	T361S	unknown	Het
Pik3r6	A	G	11: 68,434,455 (GRCm39)	E552G	probably damaging	Het
Pitx2	A	G	3: 129,009,521 (GRCm39)	T147A	probably benign	Het
Pkmyt1	G	A	17: 23,953,167 (GRCm39)	G241D	probably damaging	Het
Pola2	A	T	19: 6,003,802 (GRCm39)	V191D	possibly damaging	Het
Ralgapb	T	A	2: 158,291,367 (GRCm39)		probably null	Het
Rapgef4	T	C	2: 71,811,661 (GRCm39)	S11P	probably benign	Het
Rnf10	G	A	5: 115,395,136 (GRCm39)	R151C	probably damaging	Het
Rpl34	G	A	3: 130,522,716 (GRCm39)	P50L	probably benign	Het
Rptn	C	G	3: 93,305,437 (GRCm39)	H923Q	possibly damaging	Het
Sbno2	A	T	10: 79,895,850 (GRCm39)	L977Q	probably damaging	Het
Sec14l3	G	A	11: 4,025,566 (GRCm39)		probably null	Het
Serping1	A	T	2: 84,600,612 (GRCm39)	N243K	possibly damaging	Het
Slco2b1	T	A	7: 99,334,779 (GRCm39)	I231F	probably damaging	Het
Spag8	A	G	4: 43,652,458 (GRCm39)	F294S	probably damaging	Het
Speer4f1	G	A	5: 17,684,493 (GRCm39)	A174T	probably damaging	Het
Spred3	T	C	7: 28,862,402 (GRCm39)	D147G	probably benign	Het
Stard9	A	G	2: 120,527,241 (GRCm39)	D1166G	probably damaging	Het
Svep1	G	T	4: 58,104,536 (GRCm39)	T1229K	possibly damaging	Het
Tanc1	T	A	2: 59,669,305 (GRCm39)		probably null	Het
Tmem232	T	C	17: 65,737,800 (GRCm39)	Y420C	probably damaging	Het
Tulp3	G	A	6: 128,332,703 (GRCm39)		probably null	Het
Usp42	T	C	5: 143,702,942 (GRCm39)	T560A	possibly damaging	Het
Vmn1r170	A	T	7: 23,305,934 (GRCm39)	Y112F	probably damaging	Het
Vmn2r4	A	T	3: 64,322,699 (GRCm39)	C7S	probably benign	Het
Wrn	A	G	8: 33,774,682 (GRCm39)	M652T	probably benign	Het
Wsb1	G	A	11: 79,139,336 (GRCm39)	P120L	possibly damaging	Het
Zfp142	T	C	1: 74,609,667 (GRCm39)	E1376G	probably damaging	Het
Zfp709	TCGACG	TCG	8: 72,644,552 (GRCm39)		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
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
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'- GCTTTCTCAGACATGCTAAAATGAAGC -3'
(R):5'- AGCCAGTTTATACCCAGGACTC -3'

Sequencing Primer
(F):5'- AGGTCCTGGTGTCAAAACTC -3'
(R):5'- GTTTATACCCAGGACTCCAGGACAG -3'

Posted On

2018-02-27