Mutagenetix > Incidental Mutation

Incidental Mutation 'R2084:Tubal3'

230222

Institutional Source

Beutler Lab

Gene Symbol

Tubal3

Ensembl Gene

ENSMUSG00000021216

Gene Name

tubulin, alpha-like 3

Synonyms

MMRRC Submission

040089-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.206) question?

Stock #

R2084 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

3974695-3985277 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 3978192 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 36 (I36T)

Ref Sequence

ENSEMBL: ENSMUSP00000021639 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021639]

AlphaFold

Q3UX10

Predicted Effect

possibly damaging
Transcript: ENSMUST00000021639
AA Change: I36T

PolyPhen 2 Score 0.617 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000021639
Gene: ENSMUSG00000021216
AA Change: I36T

Domain	Start	End	E-Value	Type
Tubulin	56	253	9.39e-66	SMART
Tubulin_C	255	400	8.93e-49	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223035

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

100% (53/53)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd36	C	T	11: 5,612,378 (GRCm39)	Q1237*	probably null	Het
Aph1c	T	G	9: 66,726,579 (GRCm39)	R258S	probably damaging	Het
Arfgap3	T	A	15: 83,218,767 (GRCm39)	N102I	probably damaging	Het
Astn1	T	C	1: 158,299,978 (GRCm39)	V106A	probably damaging	Het
BC005537	G	T	13: 24,996,698 (GRCm39)		probably null	Het
Card10	G	A	15: 78,677,171 (GRCm39)	T412M	possibly damaging	Het
Cars1	T	C	7: 143,140,919 (GRCm39)	I126M	probably benign	Het
Cfap20dc	T	C	14: 8,558,171 (GRCm38)	D138G	probably damaging	Het
Col11a1	C	T	3: 113,951,791 (GRCm39)	R1074C	probably damaging	Het
Cpped1	T	C	16: 11,646,365 (GRCm39)	D153G	probably damaging	Het
Cyp2j11	T	A	4: 96,227,438 (GRCm39)	I193F	probably damaging	Het
Dnm2	T	C	9: 21,411,667 (GRCm39)		probably null	Het
Efemp1	A	G	11: 28,865,763 (GRCm39)	D288G	probably damaging	Het
Espl1	T	C	15: 102,205,286 (GRCm39)		probably null	Het
Fcgbpl1	G	A	7: 27,856,960 (GRCm39)	V2103M	probably damaging	Het
Fcrl5	T	C	3: 87,351,537 (GRCm39)	F262L	probably benign	Het
Gh	G	A	11: 106,191,958 (GRCm39)	P84L	probably damaging	Het
Gm10267	T	C	18: 44,290,397 (GRCm39)	R37G	probably benign	Het
Hmgxb3	C	T	18: 61,288,095 (GRCm39)		probably benign	Het
Ifit2	T	C	19: 34,550,750 (GRCm39)	W97R	probably damaging	Het
Ift81	T	G	5: 122,705,410 (GRCm39)	K491Q	probably benign	Het
Ints8	A	G	4: 11,230,377 (GRCm39)	V488A	probably benign	Het
Krba1	T	A	6: 48,391,502 (GRCm39)	L797Q	probably damaging	Het
Krr1	T	C	10: 111,812,690 (GRCm39)	V100A	probably damaging	Het
Nav1	C	T	1: 135,535,158 (GRCm39)		probably benign	Het
Nos1	C	A	5: 118,081,310 (GRCm39)	Q1205K	probably damaging	Het
Nup85	A	T	11: 115,459,517 (GRCm39)	D125V	possibly damaging	Het
Or5ak23	T	C	2: 85,244,959 (GRCm39)	E88G	probably benign	Het
Pclo	T	G	5: 14,732,162 (GRCm39)	S3555A	probably benign	Het
Pdzrn3	T	C	6: 101,131,256 (GRCm39)	I473V	probably benign	Het
Polr1a	A	G	6: 71,927,793 (GRCm39)	E848G	possibly damaging	Het
Pop1	T	C	15: 34,508,744 (GRCm39)		probably benign	Het
Pramel23	T	A	4: 143,425,920 (GRCm39)	T8S	probably damaging	Het
Prpf3	C	T	3: 95,756,301 (GRCm39)	E117K	probably benign	Het
Psmg3	C	T	5: 139,809,744 (GRCm39)	V101M	probably benign	Het
Rexo1	G	A	10: 80,397,100 (GRCm39)	S52L	probably benign	Het
Ryk	C	T	9: 102,752,971 (GRCm39)	T210M	probably damaging	Het
Sde2	A	G	1: 180,690,198 (GRCm39)	E306G	probably damaging	Het
Sec24c	A	G	14: 20,741,347 (GRCm39)	Q658R	probably benign	Het
Sgsm1	G	A	5: 113,433,266 (GRCm39)	T183I	probably damaging	Het
Skint7	T	A	4: 111,837,375 (GRCm39)	V51E	probably damaging	Het
Slc6a5	T	A	7: 49,598,002 (GRCm39)	M622K	probably benign	Het
Slco1a5	T	C	6: 142,180,437 (GRCm39)	H655R	probably benign	Het
Slco1c1	T	A	6: 141,505,578 (GRCm39)	Y452*	probably null	Het
Spn	T	C	7: 126,736,210 (GRCm39)	E99G	probably benign	Het
Ssc5d	A	G	7: 4,940,011 (GRCm39)	I789V	probably benign	Het
Taok2	G	A	7: 126,469,363 (GRCm39)	T1155I	probably benign	Het
Tet2	T	C	3: 133,193,528 (GRCm39)	Q302R	possibly damaging	Het
Trmt1l	A	G	1: 151,316,605 (GRCm39)	T189A	probably damaging	Het
Vmn2r71	A	T	7: 85,267,945 (GRCm39)	Y133F	probably benign	Het
Vps11	G	T	9: 44,264,558 (GRCm39)	H673N	probably benign	Het
Zc3h12a	C	T	4: 125,013,802 (GRCm39)	S354N	probably benign	Het
Zfp2	A	G	11: 50,791,789 (GRCm39)	S85P	probably benign	Het

Other mutations in Tubal3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00595:Tubal3	APN	13	3,983,015 (GRCm39)	missense	probably damaging	1.00
IGL02053:Tubal3	APN	13	3,983,159 (GRCm39)	missense	probably damaging	0.97
IGL02120:Tubal3	APN	13	3,980,675 (GRCm39)	missense	probably damaging	0.96
IGL02426:Tubal3	APN	13	3,982,750 (GRCm39)	missense	probably damaging	0.99
IGL02548:Tubal3	APN	13	3,980,554 (GRCm39)	missense	probably benign	0.05
IGL02981:Tubal3	APN	13	3,983,257 (GRCm39)	missense	probably benign	0.02
R0458:Tubal3	UTSW	13	3,983,137 (GRCm39)	missense	probably damaging	1.00
R1626:Tubal3	UTSW	13	3,982,841 (GRCm39)	missense	probably damaging	1.00
R1657:Tubal3	UTSW	13	3,983,011 (GRCm39)	missense	possibly damaging	0.87
R3545:Tubal3	UTSW	13	3,983,560 (GRCm39)	makesense	probably null
R3976:Tubal3	UTSW	13	3,982,946 (GRCm39)	missense	probably benign
R4700:Tubal3	UTSW	13	3,983,514 (GRCm39)	missense	probably damaging	0.99
R4722:Tubal3	UTSW	13	3,978,185 (GRCm39)	missense	probably damaging	1.00
R5617:Tubal3	UTSW	13	3,983,432 (GRCm39)	missense	probably damaging	1.00
R6474:Tubal3	UTSW	13	3,983,107 (GRCm39)	missense	probably benign	0.10
R7049:Tubal3	UTSW	13	3,982,756 (GRCm39)	missense	probably damaging	1.00
R7082:Tubal3	UTSW	13	3,983,050 (GRCm39)	missense	possibly damaging	0.56
R7273:Tubal3	UTSW	13	3,980,675 (GRCm39)	missense	probably damaging	0.96
R7586:Tubal3	UTSW	13	3,978,198 (GRCm39)	missense	possibly damaging	0.78
R8805:Tubal3	UTSW	13	3,983,293 (GRCm39)	missense	probably damaging	1.00
R8921:Tubal3	UTSW	13	3,983,428 (GRCm39)	missense	probably damaging	1.00
R9043:Tubal3	UTSW	13	3,982,708 (GRCm39)	nonsense	probably null
R9173:Tubal3	UTSW	13	3,983,050 (GRCm39)	missense	possibly damaging	0.86
R9487:Tubal3	UTSW	13	3,980,674 (GRCm39)	missense	probably benign	0.03
Z1088:Tubal3	UTSW	13	3,983,511 (GRCm39)	missense	probably benign	0.06

Predicted Primers

PCR Primer
(F):5'- TTGACACTTGTATCCAGTAGTGC -3'
(R):5'- CACAACCTCATAATCTTACTTGGG -3'

Sequencing Primer
(F):5'- GACACTTGTATCCAGTAGTGCTTATG -3'
(R):5'- GGGTCTTGGTTAAAAGCACTAGC -3'

Posted On

2014-09-18