Mutagenetix > Incidental Mutation

Incidental Mutation 'R6768:Tuba3b'

532037

Institutional Source

Beutler Lab

Gene Symbol

Tuba3b

Ensembl Gene

ENSMUSG00000067338

Gene Name

tubulin, alpha 3B

Synonyms

Tuba7, M[a]7

MMRRC Submission

044884-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.272) question?

Stock #

R6768 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

145561689-145567203 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 145564455 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000084713 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000087445] [ENSMUST00000148739]

AlphaFold

P05214

Predicted Effect

probably null
Transcript: ENSMUST00000087445

SMART Domains

Protein: ENSMUSP00000084713
Gene: ENSMUSG00000067338

Domain	Start	End	E-Value	Type
Tubulin	49	246	4.47e-81	SMART
Tubulin_C	248	393	8.44e-59	SMART
low complexity region	433	449	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000148739

SMART Domains

Protein: ENSMUSP00000120740
Gene: ENSMUSG00000054966

Domain	Start	End	E-Value	Type
Pfam:LTD	24	144	1.2e-18	PFAM
low complexity region	228	244	N/A	INTRINSIC
low complexity region	248	266	N/A	INTRINSIC

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 100.0%
3x: 99.8%
10x: 98.9%
20x: 97.2%

Validation Efficiency

96% (45/47)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam6b	G	A	12: 113,453,863 (GRCm39)	V227I	probably benign	Het
Agtrap	A	G	4: 148,166,067 (GRCm39)	V106A	probably benign	Het
Aldh3a2	A	C	11: 61,144,536 (GRCm39)	S341A	probably benign	Het
Bmper	T	A	9: 23,292,749 (GRCm39)	C353S	probably damaging	Het
Casq1	C	T	1: 172,047,245 (GRCm39)	D5N	probably benign	Het
Ccin	G	A	4: 43,984,574 (GRCm39)	R327H	probably benign	Het
Chuk	A	G	19: 44,085,390 (GRCm39)	V252A	probably damaging	Het
Colec11	T	C	12: 28,645,100 (GRCm39)		probably null	Het
Cpeb3	G	A	19: 37,002,432 (GRCm39)	T643I	possibly damaging	Het
Cstpp1	A	T	2: 91,252,303 (GRCm39)	H19Q	probably damaging	Het
Ctcfl	A	G	2: 172,959,084 (GRCm39)	V214A	possibly damaging	Het
Dst	A	G	1: 34,220,793 (GRCm39)	E2199G	probably damaging	Het
Eno2	T	C	6: 124,744,711 (GRCm39)	E45G	probably damaging	Het
Foxa2	T	C	2: 147,885,747 (GRCm39)	H181R	probably damaging	Het
Fpgs	A	G	2: 32,576,635 (GRCm39)	S331P	probably benign	Het
Gm47189	A	G	14: 41,492,035 (GRCm39)	S81P	probably benign	Het
Igsf8	C	A	1: 172,145,099 (GRCm39)	P142Q	probably damaging	Het
Islr	G	T	9: 58,064,893 (GRCm39)	Q205K	possibly damaging	Het
Josd1	A	G	15: 79,561,323 (GRCm39)	W162R	probably benign	Het
Lrrc37a	G	A	11: 103,390,949 (GRCm39)	T1492I	probably benign	Het
Meox1	A	G	11: 101,770,161 (GRCm39)	F189L	probably damaging	Het
Mtf1	G	A	4: 124,731,578 (GRCm39)	D385N	probably benign	Het
Naip2	A	T	13: 100,314,832 (GRCm39)	C315*	probably null	Het
Ncaph2	T	A	15: 89,248,202 (GRCm39)	Y166*	probably null	Het
Nr1i3	G	A	1: 171,044,966 (GRCm39)	V270M	probably damaging	Het
Or11h4b	A	G	14: 50,919,049 (GRCm39)	L14S	probably damaging	Het
Or13c7	T	C	4: 43,854,351 (GRCm39)	I14T	probably benign	Het
Panx3	T	C	9: 37,575,322 (GRCm39)	K180R	probably benign	Het
Pi4ka	A	G	16: 17,194,846 (GRCm39)	L184P	possibly damaging	Het
Reln	A	C	5: 22,183,905 (GRCm39)	V1698G	probably damaging	Het
Rnf213	G	T	11: 119,333,062 (GRCm39)	R2757L	probably damaging	Het
Scgb2b26	G	T	7: 33,644,379 (GRCm39)	T4K	probably damaging	Het
Sdhb	A	G	4: 140,706,364 (GRCm39)	E267G	probably damaging	Het
Sorbs1	A	T	19: 40,315,991 (GRCm39)	N383K	probably damaging	Het
Stk11ip	T	A	1: 75,509,279 (GRCm39)	C766S	probably benign	Het
Taf6l	A	C	19: 8,751,913 (GRCm39)	S592A	probably damaging	Het
Tmem145	G	A	7: 25,008,061 (GRCm39)	G235D	probably damaging	Het
Ubl7	A	T	9: 57,820,045 (GRCm39)	E32D	probably benign	Het
Vmn1r168	A	T	7: 23,240,460 (GRCm39)	T106S	probably damaging	Het
Vmn2r59	C	A	7: 41,661,392 (GRCm39)	V808F	probably benign	Het
Vmn2r61	C	T	7: 41,949,748 (GRCm39)	P723S	probably damaging	Het
Wwc2	A	G	8: 48,353,826 (GRCm39)	Y103H	possibly damaging	Het
Zfp11	G	T	5: 129,735,415 (GRCm39)	D15E	probably benign	Het
Zfp428	G	A	7: 24,214,908 (GRCm39)	G162R	probably damaging	Het
Zfp629	G	A	7: 127,209,997 (GRCm39)	T604I	probably benign	Het
Zfpm1	C	A	8: 123,061,195 (GRCm39)	D253E	probably damaging	Het
Zhx1	G	T	15: 57,917,499 (GRCm39)	T249K	probably benign	Het

Other mutations in Tuba3b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02159:Tuba3b	APN	6	145,565,392 (GRCm39)	missense	probably benign	0.01
IGL03027:Tuba3b	APN	6	145,565,117 (GRCm39)	missense	probably damaging	1.00
IGL03336:Tuba3b	APN	6	145,565,450 (GRCm39)	missense	possibly damaging	0.90
R0086:Tuba3b	UTSW	6	145,566,886 (GRCm39)	missense	probably damaging	1.00
R0454:Tuba3b	UTSW	6	145,563,995 (GRCm39)	missense	probably benign	0.13
R0631:Tuba3b	UTSW	6	145,565,302 (GRCm39)	missense	probably damaging	0.99
R1376:Tuba3b	UTSW	6	145,564,500 (GRCm39)	missense	possibly damaging	0.86
R1376:Tuba3b	UTSW	6	145,564,500 (GRCm39)	missense	possibly damaging	0.86
R1476:Tuba3b	UTSW	6	145,564,179 (GRCm39)	missense	possibly damaging	0.61
R2137:Tuba3b	UTSW	6	145,564,559 (GRCm39)	missense	probably benign
R4993:Tuba3b	UTSW	6	145,566,999 (GRCm39)	missense	possibly damaging	0.79
R5796:Tuba3b	UTSW	6	145,565,408 (GRCm39)	missense	probably damaging	1.00
R5945:Tuba3b	UTSW	6	145,565,471 (GRCm39)	missense	probably damaging	0.99
R6045:Tuba3b	UTSW	6	145,566,900 (GRCm39)	missense	probably damaging	1.00
R7055:Tuba3b	UTSW	6	145,566,935 (GRCm39)	missense	possibly damaging	0.54
R7815:Tuba3b	UTSW	6	145,566,847 (GRCm39)	missense	possibly damaging	0.91
R8997:Tuba3b	UTSW	6	145,566,954 (GRCm39)	missense	possibly damaging	0.92
R9006:Tuba3b	UTSW	6	145,565,564 (GRCm39)	missense	possibly damaging	0.55
R9026:Tuba3b	UTSW	6	145,563,996 (GRCm39)	missense	possibly damaging	0.80
R9786:Tuba3b	UTSW	6	145,564,482 (GRCm39)	missense	probably benign	0.19
X0023:Tuba3b	UTSW	6	145,566,900 (GRCm39)	missense	probably damaging	1.00
Z1177:Tuba3b	UTSW	6	145,567,018 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCTGTGCAGAGTAGACAGGATG -3'
(R):5'- ACCGGGACAACCATCATATG -3'

Sequencing Primer
(F):5'- GCAGAGTAGACAGGATGTACATATAC -3'
(R):5'- GGACAACCATCATATGAAGCCTCTTC -3'

Posted On

2018-08-29