Mutagenetix > Incidental Mutation

Incidental Mutation 'R8962:Tubd1'

682412

Institutional Source

Beutler Lab

Gene Symbol

Tubd1

Ensembl Gene

ENSMUSG00000020513

Gene Name

tubulin, delta 1

Synonyms

4930550G19Rik

MMRRC Submission

Accession Numbers

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

Essential gene?

Probably essential (E-score: 0.960) question?

Stock #

R8962 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

86544991-86567360 bp(+) (GRCm38)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

G to A at 86548833 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 1 (M1I)

Ref Sequence

ENSEMBL: ENSMUSP00000130909 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020821] [ENSMUST00000058286] [ENSMUST00000069503] [ENSMUST00000108030] [ENSMUST00000138810] [ENSMUST00000154617] [ENSMUST00000167178]

AlphaFold

Q9R1K7

Predicted Effect

probably null
Transcript: ENSMUST00000020821
AA Change: M1I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000020821
Gene: ENSMUSG00000020513
AA Change: M1I

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: ENSMUST00000058286

SMART Domains

Protein: ENSMUSP00000053188
Gene: ENSMUSG00000020516

Domain	Start	End	E-Value	Type
Pfam:Pkinase	91	202	1.2e-19	PFAM
Pfam:Pkinase_Tyr	91	253	5.9e-11	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000069503
AA Change: M1I

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

SMART Domains

Protein: ENSMUSP00000064383
Gene: ENSMUSG00000020513
AA Change: M1I

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 null
Transcript: ENSMUST00000108030
AA Change: M1I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000103665
Gene: ENSMUSG00000020513
AA Change: M1I

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: ENSMUST00000138810

SMART Domains

Protein: ENSMUSP00000122756
Gene: ENSMUSG00000020516

Domain	Start	End	E-Value	Type
SCOP:d1koba_	13	74	9e-13	SMART
PDB:4L3L\|A	21	74	6e-30	PDB
Blast:S_TKc	38	74	7e-16	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000154617

SMART Domains

Protein: ENSMUSP00000119715
Gene: ENSMUSG00000020516

Domain	Start	End	E-Value	Type
S_TKc	91	352	8.24e-107	SMART
S_TK_X	353	415	9.2e-27	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000167178
AA Change: M1I

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

SMART Domains

Protein: ENSMUSP00000130909
Gene: ENSMUSG00000020513
AA Change: M1I

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: 99.3%
20x: 97.4%

Validation Efficiency

99% (86/87)

Allele List at MGI

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

Other mutations in this stock

Total: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931429L15Rik	T	A	9: 46,308,875	M120L	probably benign	Het
6430573F11Rik	A	G	8: 36,505,575	K60E	probably damaging	Het
Abat	A	G	16: 8,578,302	T48A	probably damaging	Het
Abca8a	A	T	11: 110,078,808	I314N	probably damaging	Het
Abr	A	T	11: 76,461,329	V108D	probably damaging	Het
Adamts17	T	G	7: 67,075,309	L162V	probably damaging	Het
Adamts6	A	T	13: 104,297,391	K109N	probably damaging	Het
Ago3	A	G	4: 126,347,802	F68S	probably damaging	Het
Aifm3	T	C	16: 17,506,336		probably null	Het
Ankrd26	T	C	6: 118,535,143	E506G	probably benign	Het
Apaf1	A	G	10: 91,067,204	L185P	probably damaging	Het
Atp8b3	G	T	10: 80,520,062	T1272K	probably benign	Het
Cars2	A	G	8: 11,537,304	V193A	probably benign	Het
Ccr8	A	T	9: 120,094,547	I243F	possibly damaging	Het
Col12a1	A	G	9: 79,631,619	V2465A	probably damaging	Het
Ctbp1	T	C	5: 33,259,272	N127S	probably benign	Het
Ddx10	A	G	9: 53,238,077	S117P	probably damaging	Het
Dgkb	T	C	12: 38,139,495		probably null	Het
Dnah11	T	A	12: 117,952,538	D3520V	probably damaging	Het
Dnah11	C	T	12: 117,954,895	D1530N	probably damaging	Het
Dock5	T	C	14: 67,757,191	T1807A	probably benign	Het
Drd3	C	T	16: 43,821,479	T386I	probably damaging	Het
Dsg1b	A	G	18: 20,409,259	N941S	probably damaging	Het
Enpp3	T	C	10: 24,820,615	T141A	probably benign	Het
Esyt1	A	T	10: 128,520,697	C360S	possibly damaging	Het
Ethe1	T	A	7: 24,606,257	V143D	probably damaging	Het
Fam170b	A	G	14: 32,835,379	D57G	probably benign	Het
Fam53c	T	C	18: 34,768,176	S49P	probably damaging	Het
Fbp1	G	A	13: 62,875,253	L77F	probably benign	Het
Gm10471	T	G	5: 26,085,747	E142A	probably benign	Het
Gm17093	A	G	14: 44,520,692	E110G		Het
Gm21976	G	T	13: 98,287,313		silent	Het
Golgb1	T	C	16: 36,913,616	I1075T	probably damaging	Het
Grip2	T	C	6: 91,777,410	D628G	probably damaging	Het
Gtpbp1	G	T	15: 79,717,728	L557F	probably benign	Het
Ighv12-3	A	T	12: 114,366,584	F97Y	probably benign	Het
Itga8	T	C	2: 12,191,234	H635R	possibly damaging	Het
Itgb7	A	G	15: 102,218,602	L466S	probably damaging	Het
Klc2	T	C	19: 5,111,836	D277G	probably benign	Het
Ktn1	A	G	14: 47,663,791	E2G	probably damaging	Het
Lcmt1	T	A	7: 123,401,446	Y68N	probably damaging	Het
March10	G	T	11: 105,389,989	S490*	probably null	Het
Mterf1b	A	T	5: 4,196,437	Y26F	probably benign	Het
Myo18b	T	A	5: 112,858,480	I855F	probably benign	Het
Nek4	G	A	14: 30,953,958	M83I	probably damaging	Het
Nicn1	C	T	9: 108,294,509	R163C	possibly damaging	Het
Nos1	T	C	5: 117,879,340	V256A	probably benign	Het
Nr1h2	T	C	7: 44,552,039	T50A	probably benign	Het
Olfr296-ps1	T	A	7: 86,562,109	*126K	probably null	Het
Olfr732	A	C	14: 50,281,359	M298R	possibly damaging	Het
Ovol2	G	C	2: 144,305,914	R172G	probably damaging	Het
Parp14	A	G	16: 35,856,817	I927T	probably damaging	Het
Pcdhga7	T	A	18: 37,715,826	H295Q	probably benign	Het
Pkhd1l1	C	T	15: 44,536,895	T2145I	probably damaging	Het
Plekhs1	C	T	19: 56,473,248	T139I	possibly damaging	Het
Rab11fip3	T	A	17: 26,012,033	D746V	probably damaging	Het
Rnf214	A	C	9: 45,898,430		probably null	Het
Rtn4ip1	A	T	10: 43,946,419		probably null	Het
S1pr1	T	C	3: 115,711,920	R342G		Het
Serpina1f	T	C	12: 103,689,872	S366G	probably benign	Het
Sestd1	A	T	2: 77,212,364	M282K	probably benign	Het
Siglecf	T	G	7: 43,351,716	V36G	probably damaging	Het
Slc1a1	T	C	19: 28,909,469	V410A	probably damaging	Het
Slc38a4	C	A	15: 97,019,803	D14Y	probably benign	Het
Slk	C	T	19: 47,622,309	T806M	probably damaging	Het
Slurp2	C	A	15: 74,743,400	V48F	possibly damaging	Het
Socs1	A	G	16: 10,784,778	S32P	possibly damaging	Het
Son	T	C	16: 91,658,169	V1268A	possibly damaging	Het
Sp7	C	A	15: 102,366,445		probably benign	Het
Taar7b	T	G	10: 24,000,461	S175A	probably benign	Het
Tet2	T	C	3: 133,488,043	N210S	probably benign	Het
Tkfc	T	C	19: 10,593,336	D492G	probably damaging	Het
Tmc7	G	A	7: 118,561,005	P203L	probably benign	Het
Tshz2	C	A	2: 169,884,604	F373L	probably damaging	Het
Ttc29	T	A	8: 78,315,707	L307Q	probably damaging	Het
Vmn1r62	T	A	7: 5,675,602	M94K	probably damaging	Het
Vmn2r125	T	C	4: 156,350,891	I188T	possibly damaging	Het
Vmn2r5	T	C	3: 64,491,143	D805G	probably damaging	Het
Vmn2r6	A	T	3: 64,556,155	D419E	probably damaging	Het
Vps39	A	T	2: 120,344,206	Y98*	probably null	Het
Wisp2	C	T	2: 163,825,240	R54*	probably null	Het
Zdbf2	G	A	1: 63,308,003	G1847D	probably benign	Het
Zdhhc6	T	C	19: 55,298,807	E407G	probably benign	Het
Zfp407	A	G	18: 84,558,932	I1352T	probably damaging	Het
Zfp607a	A	G	7: 27,879,361	K619E	possibly damaging	Het
Zfp811	A	T	17: 32,798,648	N139K	probably benign	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
R4990:Tubd1	UTSW	11	86557839	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
R9024:Tubd1	UTSW	11	86555165	missense	possibly damaging	0.62
R9166:Tubd1	UTSW	11	86561265	missense	probably benign
R9207:Tubd1	UTSW	11	86565711	missense	probably benign	0.03
R9508:Tubd1	UTSW	11	86557814	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'- CCTGAAAGGCTTTATGATGGC -3'
(R):5'- TCAGACTCTTGACCATGCCTAC -3'

Sequencing Primer
(F):5'- AGGTAAATGCTGAGCTCCATCCTG -3'
(R):5'- GACCATGCCTACCTCCATTTTC -3'

Posted On

2021-08-31