Mutagenetix > Incidental Mutation

Incidental Mutation 'R7410:Tubgcp4'

574978

Institutional Source

Beutler Lab

Gene Symbol

Tubgcp4

Ensembl Gene

ENSMUSG00000027263

Gene Name

tubulin, gamma complex component 4

Synonyms

4932441P04Rik, D2Ertd435e

MMRRC Submission

045491-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7410 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

121001135-121029251 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 121014890 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 267 (Y267N)

Ref Sequence

ENSEMBL: ENSMUSP00000044049 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039541] [ENSMUST00000110657] [ENSMUST00000110658] [ENSMUST00000186659]

AlphaFold

Q9D4F8

Predicted Effect

probably damaging
Transcript: ENSMUST00000039541
AA Change: Y267N

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

SMART Domains

Protein: ENSMUSP00000044049
Gene: ENSMUSG00000027263
AA Change: Y267N

Domain	Start	End	E-Value	Type
Pfam:Spc97_Spc98	4	573	2.8e-111	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000110657
AA Change: Y267N

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000106285
Gene: ENSMUSG00000027263
AA Change: Y267N

Domain	Start	End	E-Value	Type
Pfam:Spc97_Spc98	4	572	3.1e-115	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000110658
AA Change: Y267N

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000106286
Gene: ENSMUSG00000027263
AA Change: Y267N

Domain	Start	End	E-Value	Type
Pfam:Spc97_Spc98	4	572	4.1e-115	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000186659
AA Change: Y267N

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000140417
Gene: ENSMUSG00000027263
AA Change: Y267N

Domain	Start	End	E-Value	Type
Pfam:Spc97_Spc98	4	572	4.1e-115	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a component of the gamma-tubulin ring complex, which is required for microtubule nucleation. In mammalian cells, the protein localizes to centrosomes in association with gamma-tubulin. Crystal structure analysis revealed a structure composed of five helical bundles arranged around conserved hydrophobic cores. An exposed surface area located in the C-terminal domain is essential and sufficient for direct binding to gamma-tubulin. Mutations in this gene that alter microtubule organization are associated with microcephaly and chorioretinopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2015]

Allele List at MGI

All alleles(2) : Gene trapped(2)

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210017I01Rik	A	G	3: 92,512,551 (GRCm39)	S3P	unknown	Het
Adgrv1	A	T	13: 81,711,738 (GRCm39)	D1079E	probably benign	Het
Agbl5	A	T	5: 31,048,032 (GRCm39)	Y102F	possibly damaging	Het
Ankfy1	T	C	11: 72,652,330 (GRCm39)	L1094S	probably damaging	Het
Ankrd42	A	T	7: 92,259,762 (GRCm39)	V337E	possibly damaging	Het
Axl	A	G	7: 25,458,208 (GRCm39)	L849P	probably benign	Het
Bmpr2	T	C	1: 59,907,652 (GRCm39)	I915T	probably benign	Het
Cables1	T	A	18: 12,074,282 (GRCm39)	F494L	probably benign	Het
Cacna1e	A	C	1: 154,347,980 (GRCm39)	V927G	probably benign	Het
Cavin1	A	T	11: 100,849,670 (GRCm39)	V320E	probably damaging	Het
Cemip	T	G	7: 83,602,042 (GRCm39)	S916R	probably damaging	Het
Cep57	G	A	9: 13,729,980 (GRCm39)		probably benign	Het
Ces1d	T	C	8: 93,919,433 (GRCm39)	N120D	probably damaging	Het
Cfap44	A	T	16: 44,288,776 (GRCm39)	S1509C	probably damaging	Het
Chga	A	G	12: 102,528,866 (GRCm39)	D281G	probably benign	Het
Clstn2	A	G	9: 97,423,920 (GRCm39)	F282L	probably benign	Het
Cnot1	A	T	8: 96,459,787 (GRCm39)	V1855E	possibly damaging	Het
Cnr1	T	A	4: 33,944,119 (GRCm39)	V169D	probably damaging	Het
Cpd	T	A	11: 76,673,134 (GRCm39)	H1337L	probably damaging	Het
Crabp2	T	A	3: 87,859,585 (GRCm39)	D78E	probably damaging	Het
Crat	C	T	2: 30,294,577 (GRCm39)	R497Q	probably benign	Het
Cyp2ab1	G	A	16: 20,135,475 (GRCm39)	A9V	probably benign	Het
Cyp3a41b	T	C	5: 145,514,967 (GRCm39)	D86G	probably damaging	Het
Dner	T	A	1: 84,563,332 (GRCm39)	D96V	probably damaging	Het
Duox1	C	A	2: 122,176,874 (GRCm39)	T1465N	probably damaging	Het
Ehd3	T	A	17: 74,112,428 (GRCm39)	V64E	probably benign	Het
Ehmt1	A	G	2: 24,738,080 (GRCm39)	V508A	probably benign	Het
Ephb3	G	A	16: 21,040,158 (GRCm39)	V761I	possibly damaging	Het
Fam161b	T	C	12: 84,404,575 (GRCm39)	Q35R	probably benign	Het
Fam186a	T	A	15: 99,844,826 (GRCm39)	K473*	probably null	Het
Fam227b	A	T	2: 125,960,983 (GRCm39)	D215E	probably damaging	Het
Fkbp15	C	A	4: 62,258,536 (GRCm39)	D144Y	probably damaging	Het
Galt	T	C	4: 41,757,707 (GRCm39)	I259T	possibly damaging	Het
Gbp11	G	A	5: 105,491,774 (GRCm39)	P8S	probably damaging	Het
Gfap	A	T	11: 102,783,963 (GRCm39)	M339K	probably damaging	Het
Gm14443	C	T	2: 175,011,069 (GRCm39)	R459Q	possibly damaging	Het
Grip1	A	G	10: 119,855,925 (GRCm39)	N632S	probably benign	Het
H4c18	G	A	13: 22,016,211 (GRCm39)	R40W	probably damaging	Het
Hcar1	T	G	5: 124,017,161 (GRCm39)	I177L	possibly damaging	Het
Ighv1-37	A	G	12: 114,860,099 (GRCm39)	V37A	probably damaging	Het
Ilf3	T	A	9: 21,311,100 (GRCm39)	F657L	unknown	Het
Ints2	T	G	11: 86,124,052 (GRCm39)	T579P	probably benign	Het
Iqgap1	G	T	7: 80,372,778 (GRCm39)	Y1520*	probably null	Het
Kdm4a	T	C	4: 118,001,115 (GRCm39)	H884R	possibly damaging	Het
Krtap19-1	A	T	16: 88,666,132 (GRCm39)	Y52N	unknown	Het
Lama5	A	T	2: 179,844,183 (GRCm39)		probably null	Het
Lrrc72	T	C	12: 36,272,803 (GRCm39)	N89D	probably damaging	Het
Med13l	A	G	5: 118,698,897 (GRCm39)	D16G	possibly damaging	Het
Mefv	A	G	16: 3,533,545 (GRCm39)	L242P	probably damaging	Het
Mob3c	T	C	4: 115,688,784 (GRCm39)	Y106H	probably damaging	Het
Nlrp1a	A	G	11: 71,014,683 (GRCm39)	I189T	probably damaging	Het
Nudt7	T	C	8: 114,860,559 (GRCm39)		probably benign	Het
Or13p10	T	C	4: 118,523,629 (GRCm39)	L305P	probably benign	Het
Or4f7	T	A	2: 111,644,271 (GRCm39)	I267L	probably benign	Het
Pappa	A	G	4: 65,253,956 (GRCm39)	T1537A	probably damaging	Het
Pik3r4	T	A	9: 105,527,790 (GRCm39)	V381E	probably damaging	Het
Pkd1	T	A	17: 24,794,855 (GRCm39)	Y2181N	probably damaging	Het
Pmel	G	T	10: 128,552,353 (GRCm39)	V396F	probably benign	Het
Prdm9	A	G	17: 15,765,259 (GRCm39)	I507T	possibly damaging	Het
Psme4	C	T	11: 30,765,279 (GRCm39)	Q549*	probably null	Het
Ptprg	T	A	14: 11,962,657 (GRCm38)	W152R	probably damaging	Het
Ptprm	A	C	17: 67,000,561 (GRCm39)	V1141G	probably damaging	Het
Rapgef5	G	A	12: 117,685,063 (GRCm39)	V505M	probably damaging	Het
Rnf213	T	A	11: 119,325,877 (GRCm39)	M1558K		Het
Slc35a1	A	G	4: 34,675,034 (GRCm39)	V168A	probably benign	Het
Srebf1	T	C	11: 60,096,693 (GRCm39)	T347A	probably benign	Het
Stard9	T	A	2: 120,531,978 (GRCm39)	V2745D	probably benign	Het
Taar7e	A	T	10: 23,914,424 (GRCm39)	T305S	probably benign	Het
Tie1	T	C	4: 118,337,074 (GRCm39)	S551G	probably benign	Het
Tmc5	T	A	7: 118,222,820 (GRCm39)	Y173*	probably null	Het
Tns2	T	A	15: 102,018,961 (GRCm39)	V384D	probably damaging	Het
Vmn1r53	A	G	6: 90,200,700 (GRCm39)	V208A	probably damaging	Het
Vwa8	A	C	14: 79,219,674 (GRCm39)		probably null	Het
Wdfy4	T	C	14: 32,696,191 (GRCm39)	D2784G		Het
Zfp712	A	C	13: 67,189,400 (GRCm39)	S376A	probably benign	Het
Znrf3	C	T	11: 5,238,955 (GRCm39)	C232Y	unknown	Het

Other mutations in Tubgcp4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00573:Tubgcp4	APN	2	121,009,182 (GRCm39)	missense	probably damaging	0.99
IGL01112:Tubgcp4	APN	2	121,004,082 (GRCm39)	missense	probably benign	0.10
IGL01149:Tubgcp4	APN	2	121,015,264 (GRCm39)	missense	probably null	0.01
IGL01869:Tubgcp4	APN	2	121,006,269 (GRCm39)	missense	possibly damaging	0.95
IGL01873:Tubgcp4	APN	2	121,018,665 (GRCm39)	critical splice donor site	probably null
IGL01888:Tubgcp4	APN	2	121,015,228 (GRCm39)	missense	probably benign	0.15
IGL03060:Tubgcp4	APN	2	121,007,071 (GRCm39)	splice site	probably benign
IGL03333:Tubgcp4	APN	2	121,026,654 (GRCm39)	splice site	probably null
FR4589:Tubgcp4	UTSW	2	121,005,944 (GRCm39)	critical splice donor site	probably benign
G5030:Tubgcp4	UTSW	2	121,014,815 (GRCm39)	missense	probably damaging	1.00
R0482:Tubgcp4	UTSW	2	121,005,855 (GRCm39)	missense	probably benign	0.02
R0512:Tubgcp4	UTSW	2	121,005,900 (GRCm39)	missense	probably benign	0.06
R1433:Tubgcp4	UTSW	2	121,005,905 (GRCm39)	nonsense	probably null
R1488:Tubgcp4	UTSW	2	121,007,031 (GRCm39)	missense	possibly damaging	0.50
R1699:Tubgcp4	UTSW	2	121,020,374 (GRCm39)	nonsense	probably null
R1760:Tubgcp4	UTSW	2	121,019,952 (GRCm39)	critical splice donor site	probably null
R1935:Tubgcp4	UTSW	2	121,009,147 (GRCm39)	splice site	probably benign
R2249:Tubgcp4	UTSW	2	121,014,110 (GRCm39)	missense	possibly damaging	0.86
R4093:Tubgcp4	UTSW	2	121,025,958 (GRCm39)	missense	probably benign	0.01
R4422:Tubgcp4	UTSW	2	121,019,882 (GRCm39)	nonsense	probably null
R4433:Tubgcp4	UTSW	2	121,014,954 (GRCm39)	missense	probably benign	0.01
R4541:Tubgcp4	UTSW	2	121,025,907 (GRCm39)	missense	probably benign	0.01
R4670:Tubgcp4	UTSW	2	121,004,146 (GRCm39)	nonsense	probably null
R4873:Tubgcp4	UTSW	2	121,015,330 (GRCm39)	intron	probably benign
R4877:Tubgcp4	UTSW	2	121,020,343 (GRCm39)	missense	probably benign
R5044:Tubgcp4	UTSW	2	121,004,061 (GRCm39)	missense	probably damaging	1.00
R5436:Tubgcp4	UTSW	2	121,024,663 (GRCm39)	missense	probably benign	0.01
R5436:Tubgcp4	UTSW	2	121,018,617 (GRCm39)	missense	probably damaging	1.00
R5566:Tubgcp4	UTSW	2	121,015,251 (GRCm39)	missense	possibly damaging	0.61
R6110:Tubgcp4	UTSW	2	121,024,589 (GRCm39)	missense	probably benign	0.02
R6700:Tubgcp4	UTSW	2	121,020,329 (GRCm39)	missense	probably benign	0.11
R6980:Tubgcp4	UTSW	2	121,025,946 (GRCm39)	missense	probably benign	0.28
R6999:Tubgcp4	UTSW	2	121,022,778 (GRCm39)	missense	probably damaging	1.00
R7338:Tubgcp4	UTSW	2	121,024,465 (GRCm39)	missense	probably benign	0.02
R7388:Tubgcp4	UTSW	2	121,020,447 (GRCm39)	critical splice donor site	probably null
R8048:Tubgcp4	UTSW	2	121,013,981 (GRCm39)	missense	probably benign	0.00
R8129:Tubgcp4	UTSW	2	121,004,109 (GRCm39)	missense	possibly damaging	0.80
R8414:Tubgcp4	UTSW	2	121,024,634 (GRCm39)	missense	probably benign	0.02
R9006:Tubgcp4	UTSW	2	121,015,251 (GRCm39)	missense	probably benign	0.35
R9050:Tubgcp4	UTSW	2	121,004,079 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AAGAACTCAGCGCTTTCCG -3'
(R):5'- CAGTCATTGTTGTCATCAGCC -3'

Sequencing Primer
(F):5'- GTGCCAGTTTTCTTCCTGAGATC -3'
(R):5'- ATTGTTGTCATCAGCCACTCTAAC -3'

Posted On

2019-10-07