Mutagenetix > Incidental Mutation

Incidental Mutation 'R7464:Tulp3'

578629

Institutional Source

Beutler Lab

Gene Symbol

Tulp3

Ensembl Gene

ENSMUSG00000001521

Gene Name

tubby-like protein 3

Synonyms

2310022L06Rik

MMRRC Submission

045538-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7464 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

128298124-128332814 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 128303792 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 269 (V269D)

Ref Sequence

ENSEMBL: ENSMUSP00000001562 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001562]

AlphaFold

O88413

Predicted Effect

probably benign
Transcript: ENSMUST00000001562
AA Change: V269D

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000001562
Gene: ENSMUSG00000001521
AA Change: V269D

Domain	Start	End	E-Value	Type
Pfam:Tub_N	30	84	1.7e-23	PFAM
Pfam:Tub_N	76	198	5.5e-16	PFAM
Pfam:Tub	213	454	1e-87	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

96% (79/82)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the tubby gene family of bipartite transcription factors. Members of this family have been identified in plants, vertebrates, and invertebrates, and they share a conserved N-terminal transcription activation region and a conserved C-terminal DNA and phosphatidylinositol-phosphate binding region. The encoded protein binds to phosphoinositides in the plasma membrane via its C-terminal region and probably functions as a membrane-bound transcription regulator that translocates to the nucleus in response to phosphoinositide hydrolysis, for instance, induced by G-protein-coupled-receptor signaling. It plays an important role in neuronal development and function. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, May 2009]
PHENOTYPE: Homozygous mutant mice exhibit failed neural tube closure followed by neuroepithelial apoptosis and ultimately embryonic death around E14.5. Heterozygotes are largely phenotypically normal, however some exhibit neuroepithelial apoptosis and die as embryos. [provided by MGI curators]

Allele List at MGI

All alleles(35) : Targeted, other(3) Gene trapped(31) Chemically induced(1)

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	C	T	6: 23,077,152 (GRCm39)	G736R	possibly damaging	Het
Acta2	G	A	19: 34,229,931 (GRCm39)	T8I	probably benign	Het
Ankar	A	T	1: 72,738,053 (GRCm39)	V43E	possibly damaging	Het
Apof	A	G	10: 128,105,505 (GRCm39)	I220V	probably benign	Het
Asxl1	G	T	2: 153,239,705 (GRCm39)	A499S	probably benign	Het
Baz2a	T	A	10: 127,957,942 (GRCm39)	D1069E	possibly damaging	Het
Baz2b	T	C	2: 59,807,792 (GRCm39)	T156A	possibly damaging	Het
Bbc3	A	T	7: 16,051,082 (GRCm39)	R169W	unknown	Het
C5ar1	T	A	7: 15,982,691 (GRCm39)	I110L	probably benign	Het
Cd19	C	A	7: 126,010,975 (GRCm39)	R323L	probably damaging	Het
Cdc14b	A	T	13: 64,344,489 (GRCm39)	C113*	probably null	Het
Cngb1	C	A	8: 95,980,811 (GRCm39)	W914L	possibly damaging	Het
Colgalt2	A	G	1: 152,379,895 (GRCm39)	K445E	probably damaging	Het
Crebrf	A	G	17: 26,982,461 (GRCm39)	M608V	unknown	Het
Csf1	T	A	3: 107,656,191 (GRCm39)	H280L	probably benign	Het
Cyp2j11	C	A	4: 96,233,357 (GRCm39)	R113L	probably damaging	Het
D5Ertd579e	G	A	5: 36,771,129 (GRCm39)	H1089Y	probably damaging	Het
Ddx60	C	T	8: 62,393,708 (GRCm39)	T48M	possibly damaging	Het
Defa40	T	A	8: 21,739,910 (GRCm39)	S45T	probably damaging	Het
Dock10	T	C	1: 80,518,032 (GRCm39)	D1315G	probably damaging	Het
Dock2	T	G	11: 34,586,105 (GRCm39)	N526H	probably damaging	Het
Dram2	T	C	3: 106,480,999 (GRCm39)	*268Q	probably null	Het
Emc8	A	G	8: 121,394,657 (GRCm39)	Y21H	possibly damaging	Het
Fam162a	A	G	16: 35,891,863 (GRCm39)	L4P	probably damaging	Het
Fan1	T	A	7: 64,022,234 (GRCm39)	N340Y	probably damaging	Het
Fbxw10	T	A	11: 62,744,124 (GRCm39)	I307N	probably benign	Het
Fbxw16	A	G	9: 109,268,619 (GRCm39)	V257A	possibly damaging	Het
Fer1l6	T	A	15: 58,445,096 (GRCm39)		probably null	Het
Galnt7	A	G	8: 58,037,054 (GRCm39)	Y112H	possibly damaging	Het
Gigyf2	T	C	1: 87,356,326 (GRCm39)	I803T	unknown	Het
Gm28729	A	G	9: 96,403,288 (GRCm39)	I44T	possibly damaging	Het
Gm5447	A	G	13: 31,158,377 (GRCm39)	I34V	not run	Het
H2-M9	A	T	17: 36,953,303 (GRCm39)		probably null	Het
Helz	G	A	11: 107,527,104 (GRCm39)	C864Y	probably damaging	Het
Il25	A	G	14: 55,170,679 (GRCm39)	Y84C	probably null	Het
Itga10	T	A	3: 96,555,471 (GRCm39)	C142S	probably damaging	Het
Kcna10	A	T	3: 107,101,395 (GRCm39)	M9L	probably damaging	Het
Klhl6	G	T	16: 19,775,863 (GRCm39)	Q232K	possibly damaging	Het
Mb21d2	T	G	16: 28,748,298 (GRCm39)	I40L	possibly damaging	Het
Mdm1	T	C	10: 117,988,171 (GRCm39)	S334P	probably benign	Het
Mllt10	T	A	2: 18,175,090 (GRCm39)	D549E	probably benign	Het
Mlxipl	T	C	5: 135,162,482 (GRCm39)	V648A	probably benign	Het
Nars2	A	G	7: 96,689,137 (GRCm39)	K353R	probably benign	Het
Nav1	T	A	1: 135,512,647 (GRCm39)	M138L	probably benign	Het
Neb	T	C	2: 52,083,902 (GRCm39)	T5635A	probably benign	Het
Nktr	A	C	9: 121,579,393 (GRCm39)	I1154L	unknown	Het
Or14j8	A	T	17: 38,263,171 (GRCm39)	V248D	probably damaging	Het
Or2a57	T	G	6: 43,213,228 (GRCm39)	S229A	probably damaging	Het
Or4g17	T	A	2: 111,209,543 (GRCm39)	L66Q	probably damaging	Het
Oxld1	T	C	11: 120,347,963 (GRCm39)	D78G	probably benign	Het
Pde1b	T	C	15: 103,433,256 (GRCm39)	I255T	probably benign	Het
Pkp4	T	A	2: 59,138,481 (GRCm39)	F244I	probably benign	Het
Polg2	C	A	11: 106,664,540 (GRCm39)	V305L	probably benign	Het
Pramel34	C	T	5: 93,784,099 (GRCm39)	C455Y	probably damaging	Het
Ptpn18	G	A	1: 34,512,445 (GRCm39)	D417N	possibly damaging	Het
Sash1	T	C	10: 8,632,509 (GRCm39)	D242G	possibly damaging	Het
Six4	T	C	12: 73,159,304 (GRCm39)	T219A	possibly damaging	Het
Slc28a3	A	C	13: 58,710,835 (GRCm39)	Y562*	probably null	Het
Soat1	A	T	1: 156,266,887 (GRCm39)	W310R	probably damaging	Het
Son	CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC	CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC	16: 91,453,579 (GRCm39)		probably benign	Het
Spef2	T	C	15: 9,740,671 (GRCm39)	N30D	probably benign	Het
Spopfm2	A	T	3: 94,083,411 (GRCm39)	N133K	probably benign	Het
Srebf2	T	A	15: 82,057,075 (GRCm39)	I270N	probably damaging	Het
St8sia3	T	C	18: 64,404,589 (GRCm39)	W289R	probably damaging	Het
Stx5a	T	A	19: 8,720,868 (GRCm39)		probably benign	Het
Tacc1	T	C	8: 25,654,480 (GRCm39)	D689G	probably damaging	Het
Tacc3	A	G	5: 33,818,628 (GRCm39)	D21G	probably benign	Het
Tapt1	G	A	5: 44,346,030 (GRCm39)	R307*	probably null	Het
Tbc1d9b	T	A	11: 50,022,312 (GRCm39)	V16E	probably damaging	Het
Tchhl1	G	A	3: 93,377,971 (GRCm39)	R225K	probably benign	Het
Thumpd3	G	A	6: 113,032,730 (GRCm39)	G156D	probably benign	Het
Tmem178	C	T	17: 81,252,331 (GRCm39)	P72S	probably benign	Het
Tmem52	C	T	4: 155,553,926 (GRCm39)	P46S	probably benign	Het
Tmem94	G	T	11: 115,677,082 (GRCm39)	R118L	possibly damaging	Het
Ubr1	A	G	2: 120,720,255 (GRCm39)		probably null	Het
Upf1	G	A	8: 70,786,073 (GRCm39)	S962L	probably benign	Het
Vcpip1	C	T	1: 9,816,745 (GRCm39)	R546Q	probably damaging	Het
Vmn2r49	A	C	7: 9,722,820 (GRCm39)	S151R	probably benign	Het
Wac	T	C	18: 7,871,746 (GRCm39)		probably null	Het
Wrn	C	T	8: 33,826,024 (GRCm39)		probably null	Het
Zfp286	C	A	11: 62,671,627 (GRCm39)	D149Y	probably benign	Het
Zfp748	A	G	13: 67,690,091 (GRCm39)	C390R	probably damaging	Het
Zfp873	A	G	10: 81,896,210 (GRCm39)	T314A	possibly damaging	Het
Zfyve1	C	T	12: 83,598,261 (GRCm39)	D656N	probably benign	Het
Zmym1	T	A	4: 126,952,728 (GRCm39)	K18*	probably null	Het

Other mutations in Tulp3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01025:Tulp3	APN	6	128,302,847 (GRCm39)	missense	probably damaging	0.99
IGL01327:Tulp3	APN	6	128,304,597 (GRCm39)	missense	probably damaging	1.00
IGL01382:Tulp3	APN	6	128,302,033 (GRCm39)	missense	probably damaging	1.00
IGL01633:Tulp3	APN	6	128,302,923 (GRCm39)	missense	probably damaging	1.00
IGL02228:Tulp3	APN	6	128,311,448 (GRCm39)	missense	probably damaging	1.00
IGL02372:Tulp3	APN	6	128,304,561 (GRCm39)	missense	possibly damaging	0.92
D4043:Tulp3	UTSW	6	128,301,113 (GRCm39)	missense	probably benign	0.06
R0243:Tulp3	UTSW	6	128,302,921 (GRCm39)	nonsense	probably null
R1181:Tulp3	UTSW	6	128,302,915 (GRCm39)	missense	possibly damaging	0.47
R1673:Tulp3	UTSW	6	128,310,906 (GRCm39)	splice site	probably null
R1749:Tulp3	UTSW	6	128,314,722 (GRCm39)	missense	probably damaging	1.00
R1984:Tulp3	UTSW	6	128,303,769 (GRCm39)	missense	probably benign	0.02
R1985:Tulp3	UTSW	6	128,303,769 (GRCm39)	missense	probably benign	0.02
R2568:Tulp3	UTSW	6	128,304,601 (GRCm39)	missense	probably benign	0.00
R4660:Tulp3	UTSW	6	128,300,017 (GRCm39)	utr 3 prime	probably benign
R4779:Tulp3	UTSW	6	128,300,083 (GRCm39)	missense	probably damaging	1.00
R5001:Tulp3	UTSW	6	128,302,031 (GRCm39)	missense	probably damaging	1.00
R6192:Tulp3	UTSW	6	128,332,703 (GRCm39)	splice site	probably null
R6242:Tulp3	UTSW	6	128,300,050 (GRCm39)	missense	probably damaging	1.00
R7782:Tulp3	UTSW	6	128,301,943 (GRCm39)	missense	possibly damaging	0.69
R7883:Tulp3	UTSW	6	128,303,807 (GRCm39)	missense	probably damaging	1.00
R8027:Tulp3	UTSW	6	128,311,436 (GRCm39)	missense	probably benign	0.00
R8235:Tulp3	UTSW	6	128,304,640 (GRCm39)	missense	probably benign	0.00
R8919:Tulp3	UTSW	6	128,310,966 (GRCm39)	missense	probably benign	0.12

Predicted Primers

PCR Primer
(F):5'- GTAGAAGCTGACCAGACTGC -3'
(R):5'- CATGTGGAGAAGTGTTTCCCTG -3'

Sequencing Primer
(F):5'- TGACCAGACTGCAGGGTG -3'
(R):5'- AGACAGGATCTCTTTACGTAGGCC -3'

Posted On

2019-10-07