Mutagenetix > Incidental Mutation

Incidental Mutation 'R7782:Tulp3'

599297

Institutional Source

Beutler Lab

Gene Symbol

Tulp3

Ensembl Gene

ENSMUSG00000001521

Gene Name

tubby-like protein 3

Synonyms

2310022L06Rik

MMRRC Submission

045838-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7782 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

128298124-128332814 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 128301943 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 359 (N359K)

Ref Sequence

ENSEMBL: ENSMUSP00000001562 (fasta)

Gene Model

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

AlphaFold

O88413

Predicted Effect

possibly damaging
Transcript: ENSMUST00000001562
AA Change: N359K

PolyPhen 2 Score 0.690 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000001562
Gene: ENSMUSG00000001521
AA Change: N359K

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: 99.8%
20x: 99.4%

Validation Efficiency

100% (80/80)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933415A04Rik	GTGTGTGTATGTGTGT	GTGTGTGT	11: 43,478,239 (GRCm39)		probably null	Het
Adamts16	A	G	13: 70,984,265 (GRCm39)	S133P	probably damaging	Het
Adamts17	T	C	7: 66,774,802 (GRCm39)	W1001R	probably damaging	Het
Aox4	T	A	1: 58,270,251 (GRCm39)		probably null	Het
B4galnt4	C	T	7: 140,644,988 (GRCm39)	P221S	probably damaging	Het
BC005537	C	T	13: 24,987,382 (GRCm39)	R7W	possibly damaging	Het
BC034090	T	C	1: 155,108,410 (GRCm39)		probably benign	Het
Best2	T	A	8: 85,736,143 (GRCm39)	D312V	probably damaging	Het
Bod1l	A	T	5: 41,975,286 (GRCm39)	D2009E	probably benign	Het
Ccdc158	A	C	5: 92,793,373 (GRCm39)	S672A	probably benign	Het
Ccdc43	A	T	11: 102,588,443 (GRCm39)	L31Q	probably damaging	Het
Cdcp3	G	A	7: 130,904,466 (GRCm39)		probably null	Het
Chaf1a	T	G	17: 56,369,291 (GRCm39)	H507Q	probably benign	Het
Clptm1l	A	G	13: 73,752,439 (GRCm39)	Y28C	probably damaging	Het
Cp	G	A	3: 20,029,223 (GRCm39)		probably null	Het
Crocc	C	T	4: 140,752,597 (GRCm39)	A1432T	probably benign	Het
Crybg2	A	G	4: 133,801,137 (GRCm39)	T457A	probably benign	Het
Csnk2a1-ps3	C	T	1: 156,352,552 (GRCm39)	T251I	probably damaging	Het
Dennd4a	A	G	9: 64,814,202 (GRCm39)	D1473G	probably damaging	Het
Diaph3	A	G	14: 87,274,940 (GRCm39)	F172S	probably benign	Het
Dnajc5b	A	G	3: 19,629,006 (GRCm39)	N100S	probably benign	Het
Dusp13b	G	A	14: 21,791,404 (GRCm39)	T16I	possibly damaging	Het
Epb42	T	G	2: 120,864,916 (GRCm39)	K58N	probably benign	Het
Fat1	A	G	8: 45,403,948 (GRCm39)	Y233C	probably damaging	Het
Fcgbp	T	A	7: 27,784,460 (GRCm39)	Y173*	probably null	Het
Fign	T	A	2: 63,809,506 (GRCm39)	D588V	probably damaging	Het
Fignl2	C	T	15: 100,951,188 (GRCm39)	V365M	unknown	Het
Fnip2	A	C	3: 79,415,430 (GRCm39)	Y203D	probably benign	Het
Ftsj3	CCTTCTTCTTCTTCTTCT	CCTTCTTCTTCTTCT	11: 106,143,377 (GRCm39)		probably benign	Het
Gfral	C	A	9: 76,100,572 (GRCm39)	V289L	probably benign	Het
H2bc21	T	A	3: 96,128,487 (GRCm39)		probably null	Het
Heatr5b	G	T	17: 79,103,370 (GRCm39)	T1161K	probably damaging	Het
Hectd4	A	T	5: 121,443,784 (GRCm39)	I1335F	possibly damaging	Het
Htt	T	A	5: 35,040,336 (GRCm39)	V2166D	probably benign	Het
Ipo5	G	C	14: 121,170,537 (GRCm39)	K436N	possibly damaging	Het
Iqca1l	A	G	5: 24,749,224 (GRCm39)	L758P	probably damaging	Het
Itga6	A	G	2: 71,671,879 (GRCm39)	E794G	probably damaging	Het
Itga9	G	A	9: 118,672,712 (GRCm39)	C148Y		Het
Kcnip2	A	C	19: 45,785,524 (GRCm39)		probably null	Het
Kcnk6	T	C	7: 28,925,269 (GRCm39)	T116A	possibly damaging	Het
Kctd21	A	G	7: 96,997,297 (GRCm39)	I257V	probably benign	Het
Kif19a	G	A	11: 114,672,748 (GRCm39)	R299Q	probably damaging	Het
Kifc2	G	A	15: 76,548,328 (GRCm39)	G391R	probably benign	Het
Klrg2	A	G	6: 38,604,562 (GRCm39)	V381A	possibly damaging	Het
Mob1b	A	G	5: 88,897,542 (GRCm39)		probably null	Het
Or13p8	T	C	4: 118,584,106 (GRCm39)	Y221H	probably damaging	Het
Or6c69	T	G	10: 129,747,392 (GRCm39)	S252R	probably damaging	Het
Or6c75	T	C	10: 129,337,020 (GRCm39)	V81A	probably benign	Het
Or7c70	T	C	10: 78,683,447 (GRCm39)	I101V	probably benign	Het
Oxsm	C	A	14: 16,240,925 (GRCm38)	A375S	possibly damaging	Het
Pcdha3	T	C	18: 37,081,193 (GRCm39)	V645A	probably damaging	Het
Pcdhb15	T	A	18: 37,607,788 (GRCm39)	V340E	possibly damaging	Het
Pced1a	G	A	2: 130,264,435 (GRCm39)	P132S	probably damaging	Het
Pla2r1	C	T	2: 60,334,531 (GRCm39)	V414M	probably benign	Het
Plekhg4	A	C	8: 106,104,399 (GRCm39)	I493L	probably benign	Het
Plekhj1	T	A	10: 80,634,179 (GRCm39)		probably benign	Het
Pmfbp1	G	T	8: 110,254,412 (GRCm39)	K482N	probably damaging	Het
Ppil3	T	C	1: 58,473,574 (GRCm39)	N92S	probably benign	Het
Ppt2	A	G	17: 34,844,686 (GRCm39)	S156P	probably benign	Het
Prss41	A	T	17: 24,056,087 (GRCm39)	D255E	probably benign	Het
Psg25	T	A	7: 18,255,227 (GRCm39)	M430L	probably benign	Het
Rffl	A	T	11: 82,703,595 (GRCm39)	C109*	probably null	Het
Rock2	A	G	12: 17,021,111 (GRCm39)	E991G	probably benign	Het
Rpap2	A	G	5: 107,768,058 (GRCm39)	I299V	probably benign	Het
Rras	T	C	7: 44,670,529 (GRCm39)	S158P	probably benign	Het
Serpinb10	G	A	1: 107,463,196 (GRCm39)		probably benign	Het
Smyd3	A	T	1: 178,799,859 (GRCm39)	I360N	possibly damaging	Het
Synm	A	G	7: 67,384,714 (GRCm39)	S541P	probably damaging	Het
Tasor	A	G	14: 27,193,901 (GRCm39)	T1034A	probably benign	Het
Tbc1d31	C	A	15: 57,821,764 (GRCm39)	T813K	possibly damaging	Het
Trav7n-4	A	G	14: 53,329,103 (GRCm39)	M38V	probably benign	Het
Twf1	T	C	15: 94,480,654 (GRCm39)	K196E	probably benign	Het
Usp24	A	T	4: 106,173,771 (GRCm39)	N35Y	probably damaging	Het
Usp46	T	A	5: 74,162,772 (GRCm39)	E342D	probably benign	Het
Vps50	T	A	6: 3,532,202 (GRCm39)		probably null	Het
Vps8	T	A	16: 21,330,308 (GRCm39)	I727N	possibly damaging	Het
Wdr90	C	T	17: 26,065,300 (GRCm39)	R1652Q	probably damaging	Het
Zfp11	A	T	5: 129,734,027 (GRCm39)	V478E	possibly damaging	Het
Zfp493	A	G	13: 67,935,123 (GRCm39)	K359E	probably benign	Het
Zfp536	T	C	7: 37,268,126 (GRCm39)	Y430C	probably damaging	Het
Zfpm1	A	G	8: 123,063,689 (GRCm39)	D916G	unknown	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
R7464:Tulp3	UTSW	6	128,303,792 (GRCm39)	missense	probably benign	0.00
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'- AAGATGACCATTCCAGCCTGG -3'
(R):5'- ACAGAACTGGTTTTGGCGCTC -3'

Sequencing Primer
(F):5'- GCCTGGGCTTTCAGAAAAAG -3'
(R):5'- CGTTATCTGTGCCAGAGGAC -3'

Posted On

2019-11-26