Mutagenetix > Incidental Mutation

Incidental Mutation 'R6189:Tuba4a'

502352

Institutional Source

Beutler Lab

Gene Symbol

Tuba4a

Ensembl Gene

ENSMUSG00000026202

Gene Name

tubulin, alpha 4A

Synonyms

M[a]4, Tuba4

MMRRC Submission

044329-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.389) question?

Stock #

R6189 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

75190872-75196509 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 75193518 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 95 (I95F)

Ref Sequence

ENSEMBL: ENSMUSP00000140552 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027401] [ENSMUST00000123825] [ENSMUST00000186213] [ENSMUST00000186758] [ENSMUST00000144355] [ENSMUST00000180101] [ENSMUST00000189131] [ENSMUST00000188593] [ENSMUST00000179573] [ENSMUST00000188460] [ENSMUST00000191108] [ENSMUST00000189698] [ENSMUST00000190717]

AlphaFold

P68368

Predicted Effect

probably benign
Transcript: ENSMUST00000027401

SMART Domains

Protein: ENSMUSP00000027401
Gene: ENSMUSG00000026201

Domain	Start	End	E-Value	Type
Pfam:Pkinase	20	290	3.3e-47	PFAM
Pfam:Pkinase_Tyr	21	290	3e-28	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000079464
AA Change: I138F

SMART Domains

Protein: ENSMUSP00000078429
Gene: ENSMUSG00000026202
AA Change: I138F

Domain	Start	End	E-Value	Type
Tubulin	49	246	4.34e-79	SMART
Tubulin_C	248	393	7.88e-59	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000123825

SMART Domains

Protein: ENSMUSP00000122688
Gene: ENSMUSG00000026201

Domain	Start	End	E-Value	Type
Pfam:Pkinase	20	122	9.1e-11	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126328

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131738

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135484

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142052

Predicted Effect

probably benign
Transcript: ENSMUST00000186213
AA Change: I110F

PolyPhen 2 Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000140657
Gene: ENSMUSG00000026202
AA Change: I110F

Domain	Start	End	E-Value	Type
Tubulin	49	246	4.34e-79	SMART
Tubulin_C	248	393	7.88e-59	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000186758
AA Change: I95F

PolyPhen 2 Score 0.336 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000140552
Gene: ENSMUSG00000026202
AA Change: I95F

Domain	Start	End	E-Value	Type
Pfam:Tubulin	1	100	1.1e-22	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000186971
AA Change: I102F

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187103

Predicted Effect

probably benign
Transcript: ENSMUST00000144355

SMART Domains

Protein: ENSMUSP00000115964
Gene: ENSMUSG00000026201

Domain	Start	End	E-Value	Type
Pfam:Pkinase	20	122	9.1e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000180101

Predicted Effect

probably benign
Transcript: ENSMUST00000189131

SMART Domains

Protein: ENSMUSP00000140970
Gene: ENSMUSG00000026202

Domain	Start	End	E-Value	Type
Pfam:Tubulin	1	81	3.6e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000188593

SMART Domains

Protein: ENSMUSP00000140881
Gene: ENSMUSG00000026202

Domain	Start	End	E-Value	Type
Pfam:Tubulin	2	75	2e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000179573

Predicted Effect

probably benign
Transcript: ENSMUST00000188460

SMART Domains

Protein: ENSMUSP00000139998
Gene: ENSMUSG00000026201

Domain	Start	End	E-Value	Type
S_TKc	20	172	1e-2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145144

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186492

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156012

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186350

Predicted Effect

probably benign
Transcript: ENSMUST00000191108

SMART Domains

Protein: ENSMUSP00000139846
Gene: ENSMUSG00000026201

Domain	Start	End	E-Value	Type
Pfam:Pkinase	20	186	8.6e-29	PFAM
Pfam:Pkinase_Tyr	21	184	2.1e-14	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189242

Predicted Effect

probably benign
Transcript: ENSMUST00000189698

SMART Domains

Protein: ENSMUSP00000140329
Gene: ENSMUSG00000026201

Domain	Start	End	E-Value	Type
S_TKc	20	203	1.1e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000190717

SMART Domains

Protein: ENSMUSP00000141097
Gene: ENSMUSG00000026202

Domain	Start	End	E-Value	Type
Pfam:Tubulin	1	89	1.4e-18	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

97% (74/76)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Microtubules of the eukaryotic cytoskeleton perform essential and diverse functions and are composed of a heterodimer of alpha and beta tubulin. The genes encoding these microtubule constituents are part of the tubulin superfamily, which is composed of six distinct families. Genes from the alpha, beta and gamma tubulin families are found in all eukaryotes. The alpha and beta tubulins represent the major components of microtubules, while gamma tubulin plays a critical role in the nucleation of microtubule assembly. There are multiple alpha and beta tubulin genes and they are highly conserved among and between species. This gene encodes an alpha tubulin that is a highly conserved homolog of a rat testis-specific alpha tubulin. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2013]

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530064D06Rik	A	G	17: 48,474,222 (GRCm39)		probably benign	Het
Abca8a	T	C	11: 109,921,710 (GRCm39)	D1448G	probably damaging	Het
Actn2	C	T	13: 12,291,326 (GRCm39)	D693N	probably damaging	Het
Adam3	A	C	8: 25,201,352 (GRCm39)	I267R	probably benign	Het
Aldh1l2	A	G	10: 83,343,877 (GRCm39)		probably null	Het
C4bp	T	C	1: 130,564,556 (GRCm39)	Y376C	probably damaging	Het
Cacna1h	A	G	17: 25,616,818 (GRCm39)	W101R	probably damaging	Het
Ccdc97	T	A	7: 25,415,523 (GRCm39)	T47S	probably benign	Het
Cenatac	G	A	9: 44,321,618 (GRCm39)	R328C	probably benign	Het
Cnot6l	G	A	5: 96,246,136 (GRCm39)	T171I	probably benign	Het
Cntnap2	T	A	6: 47,248,232 (GRCm39)	S1213T	probably damaging	Het
Cxcl10	A	T	5: 92,495,972 (GRCm39)	L55Q	probably benign	Het
Cyp1a1	T	C	9: 57,607,966 (GRCm39)	V198A	probably damaging	Het
Dclre1b	A	G	3: 103,710,849 (GRCm39)	V354A	probably damaging	Het
Dmxl1	C	T	18: 50,026,402 (GRCm39)	H1837Y	probably benign	Het
Dnajc13	G	C	9: 104,091,085 (GRCm39)	D665E	probably benign	Het
Dnmbp	T	C	19: 43,878,748 (GRCm39)	T108A	probably benign	Het
Dnmbp	T	A	19: 43,889,950 (GRCm39)	T606S	probably benign	Het
Dok5	T	A	2: 170,642,771 (GRCm39)	I23N	probably damaging	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Epha5	A	T	5: 84,385,399 (GRCm39)	F311I	probably damaging	Het
Erbb4	T	A	1: 68,083,075 (GRCm39)	M1059L	probably benign	Het
Fbxo40	A	G	16: 36,786,526 (GRCm39)	I681T	probably benign	Het
Flg2	T	A	3: 93,127,381 (GRCm39)	C2098S	unknown	Het
Gpr87	T	A	3: 59,086,650 (GRCm39)	D285V	probably damaging	Het
Hrh1	T	A	6: 114,456,959 (GRCm39)	V80D	probably damaging	Het
Hunk	G	A	16: 90,284,769 (GRCm39)	R351K	probably benign	Het
Ifna12	A	G	4: 88,521,248 (GRCm39)	W100R	probably damaging	Het
Ift57	G	A	16: 49,584,176 (GRCm39)	G310S	probably damaging	Het
Igf1r	T	A	7: 67,857,084 (GRCm39)	Y1015*	probably null	Het
Igkv14-130	T	C	6: 67,768,432 (GRCm39)	I96T	probably damaging	Het
Il34	C	T	8: 111,469,350 (GRCm39)	S155N	probably benign	Het
Itga7	T	C	10: 128,786,272 (GRCm39)	S938P	possibly damaging	Het
Itgam	A	G	7: 127,711,676 (GRCm39)	M764V	probably benign	Het
Lao1	T	A	4: 118,825,077 (GRCm39)	M299K	probably benign	Het
Lnpep	A	T	17: 17,787,001 (GRCm39)	S533T	possibly damaging	Het
Lrp4	T	C	2: 91,305,579 (GRCm39)	V283A	possibly damaging	Het
Magi3	G	T	3: 103,958,181 (GRCm39)	H635N	probably damaging	Het
Mecr	A	T	4: 131,592,565 (GRCm39)		probably null	Het
Mgrn1	T	C	16: 4,728,674 (GRCm39)		probably null	Het
Mical2	A	C	7: 112,012,087 (GRCm39)	N646H	probably damaging	Het
Mymk	C	T	2: 26,957,377 (GRCm39)	V39I	possibly damaging	Het
Nav3	T	C	10: 109,555,880 (GRCm39)	S1684G	probably damaging	Het
Ntn5	A	T	7: 45,342,644 (GRCm39)	D330V	probably benign	Het
Nup42	G	T	5: 24,380,452 (GRCm39)	G149V	probably damaging	Het
Nutm2	T	A	13: 50,623,774 (GRCm39)	V157D	possibly damaging	Het
Obscn	T	C	11: 58,960,760 (GRCm39)	I3460V	probably benign	Het
Or8u10	A	T	2: 85,915,257 (GRCm39)	M288K	possibly damaging	Het
Pakap	A	G	4: 57,855,928 (GRCm39)	E419G	probably benign	Het
Pcdh15	C	T	10: 74,178,483 (GRCm39)	A580V	probably null	Het
Pcdhb10	T	A	18: 37,545,456 (GRCm39)	H177Q	probably damaging	Het
Pitx2	T	C	3: 129,012,118 (GRCm39)	Y130H	probably damaging	Het
Pmch	G	T	10: 87,927,248 (GRCm39)		probably null	Het
Pofut2	T	A	10: 77,104,420 (GRCm39)	I399N	probably damaging	Het
Prr36	C	A	8: 4,264,177 (GRCm39)		probably benign	Het
Ptprq	C	A	10: 107,353,748 (GRCm39)	C2256F	probably damaging	Het
Rassf5	G	A	1: 131,172,716 (GRCm39)	A51V	probably damaging	Het
Retnla	A	G	16: 48,663,258 (GRCm39)	I54V	probably benign	Het
Rimbp2	A	G	5: 128,880,961 (GRCm39)	L142P	probably benign	Het
Ripk1	A	G	13: 34,216,484 (GRCm39)	T564A	probably benign	Het
Robo4	G	A	9: 37,314,829 (GRCm39)	E228K	probably benign	Het
Rsf1	GGCG	GGCGACGGCTGCG	7: 97,229,113 (GRCm39)		probably benign	Homo
Rusc1	A	T	3: 88,996,319 (GRCm39)	L132Q	probably damaging	Het
Serpinb9h	A	T	13: 33,588,427 (GRCm39)	E337D	probably benign	Het
Setd1a	T	C	7: 127,377,455 (GRCm39)		probably null	Het
Slc38a6	A	T	12: 73,356,970 (GRCm39)	K122M	probably damaging	Het
Speer4a2	A	G	5: 26,290,691 (GRCm39)	I160T	probably benign	Het
Susd5	A	T	9: 113,924,726 (GRCm39)	D203V	probably damaging	Het
Trip4	G	A	9: 65,786,434 (GRCm39)	R110*	probably null	Het
Ube2q2	T	A	9: 55,070,267 (GRCm39)	S70T	probably benign	Het
Umodl1	A	G	17: 31,215,256 (GRCm39)	I1027V	possibly damaging	Het
Unc80	G	A	1: 66,716,630 (GRCm39)	V2917I	probably benign	Het
Vmn1r70	T	A	7: 10,367,598 (GRCm39)	C29S	probably benign	Het
Vmn2r94	A	T	17: 18,477,996 (GRCm39)	D138E	probably benign	Het
Wee2	C	T	6: 40,426,617 (GRCm39)	H129Y	probably damaging	Het
Zfp318	TGAAGAAGAAGAAGAAGAAGAAGAAGAAG	TGAAGAAGAAGAAGAAGAAGAAG	17: 46,723,440 (GRCm39)		probably benign	Het
Zfp872	A	T	9: 22,108,427 (GRCm39)	D42V	probably benign	Het
Zic5	T	G	14: 122,702,386 (GRCm39)	D115A	unknown	Het

Other mutations in Tuba4a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01346:Tuba4a	APN	1	75,193,921 (GRCm39)	missense	probably damaging	1.00
andropov	UTSW	1	75,194,038 (GRCm39)	missense	probably damaging	1.00
R0453:Tuba4a	UTSW	1	75,192,502 (GRCm39)	missense	probably damaging	1.00
R0573:Tuba4a	UTSW	1	75,193,017 (GRCm39)	missense	probably benign	0.01
R1488:Tuba4a	UTSW	1	75,193,045 (GRCm39)	missense	probably benign	0.08
R1660:Tuba4a	UTSW	1	75,192,547 (GRCm39)	missense	probably benign	0.35
R1836:Tuba4a	UTSW	1	75,192,754 (GRCm39)	missense	probably benign	0.20
R2012:Tuba4a	UTSW	1	75,192,983 (GRCm39)	nonsense	probably null
R2437:Tuba4a	UTSW	1	75,194,069 (GRCm39)	missense	possibly damaging	0.47
R4180:Tuba4a	UTSW	1	75,192,426 (GRCm39)	missense	probably benign	0.33
R5505:Tuba4a	UTSW	1	75,193,060 (GRCm39)	missense	probably damaging	1.00
R6137:Tuba4a	UTSW	1	75,192,699 (GRCm39)	missense	probably damaging	1.00
R6566:Tuba4a	UTSW	1	75,193,930 (GRCm39)	missense	probably damaging	1.00
R6837:Tuba4a	UTSW	1	75,194,038 (GRCm39)	missense	probably damaging	1.00
R6883:Tuba4a	UTSW	1	75,194,066 (GRCm39)	missense	probably damaging	1.00
R7213:Tuba4a	UTSW	1	75,192,341 (GRCm39)	missense	possibly damaging	0.86
R7765:Tuba4a	UTSW	1	75,193,003 (GRCm39)	missense	probably benign	0.25
R8071:Tuba4a	UTSW	1	75,193,595 (GRCm39)	missense
R8326:Tuba4a	UTSW	1	75,195,265 (GRCm39)	missense
R8334:Tuba4a	UTSW	1	75,193,945 (GRCm39)	missense	probably benign	0.00
R8941:Tuba4a	UTSW	1	75,193,945 (GRCm39)	missense	probably benign	0.00
R9428:Tuba4a	UTSW	1	75,192,686 (GRCm39)	missense

Predicted Primers

PCR Primer
(F):5'- CCCCTAACAGCATCAATTTCTG -3'
(R):5'- CTGAAGATGGATGCTGGCAG -3'

Sequencing Primer
(F):5'- GCATCAATTTCTGAGACACAACTAG -3'
(R):5'- CAGAAGGATGAGCTAGCTCTTTTATC -3'

Posted On

2018-02-27