Mutagenetix > Incidental Mutation

Incidental Mutation 'R4779:Tulp3'

368143

Institutional Source

Beutler Lab

Gene Symbol

Tulp3

Ensembl Gene

ENSMUSG00000001521

Gene Name

tubby-like protein 3

Synonyms

2310022L06Rik

MMRRC Submission

045240-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4779 (G1)

Quality Score

115

Status

Validated

Chromosome

Chromosomal Location

128298124-128332814 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 128300083 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 448 (I448F)

Ref Sequence

ENSEMBL: ENSMUSP00000001562 (fasta)

Gene Model

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

AlphaFold

O88413

Predicted Effect

probably damaging
Transcript: ENSMUST00000001562
AA Change: I448F

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

SMART Domains

Protein: ENSMUSP00000001562
Gene: ENSMUSG00000001521
AA Change: I448F

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128708

Meta Mutation Damage Score

0.8333

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.8%

Validation Efficiency

98% (95/97)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	T	A	16: 4,667,613 (GRCm39)	S335T	unknown	Het
4933421I07Rik	T	A	7: 42,097,455 (GRCm39)	H13L	possibly damaging	Het
6030468B19Rik	A	G	11: 117,696,834 (GRCm39)	T185A	probably benign	Het
Abcc1	T	A	16: 14,228,635 (GRCm39)	V294E	probably benign	Het
Abhd16b	A	G	2: 181,135,253 (GRCm39)	T52A	possibly damaging	Het
Actl7a	A	T	4: 56,743,632 (GRCm39)	N53I	probably benign	Het
Ankmy1	T	C	1: 92,814,445 (GRCm39)	E354G	probably benign	Het
Arap1	T	C	7: 101,053,574 (GRCm39)	F1301S	probably damaging	Het
Arfgef1	A	T	1: 10,223,958 (GRCm39)	W1447R	probably damaging	Het
Atoh7	ATGGCGCT	AT	10: 62,936,187 (GRCm39)		probably benign	Het
Ccl24	T	A	5: 135,601,811 (GRCm39)	T6S	possibly damaging	Het
Cep152	G	T	2: 125,410,812 (GRCm39)	P1292Q	possibly damaging	Het
Cfap46	T	C	7: 139,239,731 (GRCm39)		probably benign	Het
Chd6	A	T	2: 160,791,477 (GRCm39)	S2627T	probably damaging	Het
Chd8	A	T	14: 52,468,963 (GRCm39)	S552T	probably damaging	Het
Ciita	C	A	16: 10,329,230 (GRCm39)	L502M	probably damaging	Het
Clic1	T	C	17: 35,271,463 (GRCm39)	F31S	probably damaging	Het
Cntnap1	T	A	11: 101,068,898 (GRCm39)	I147N	possibly damaging	Het
Cplane1	T	C	15: 8,248,322 (GRCm39)	S1624P	probably benign	Het
Crispld1	T	A	1: 17,819,831 (GRCm39)	D276E	probably benign	Het
Cspg4	A	T	9: 56,793,092 (GRCm39)	N276Y	probably damaging	Het
Cspg4b	A	T	13: 113,504,870 (GRCm39)	N2000Y	possibly damaging	Het
Cwf19l2	A	G	9: 3,410,035 (GRCm39)	M55V	possibly damaging	Het
Cyp2c69	T	C	19: 39,866,038 (GRCm39)	N185S	probably benign	Het
Dop1b	T	C	16: 93,553,969 (GRCm39)	I301T	probably damaging	Het
Epg5	T	C	18: 78,034,580 (GRCm39)	V1443A	probably benign	Het
Ephb4	T	C	5: 137,363,964 (GRCm39)	V612A	probably benign	Het
Fcgbp	T	A	7: 27,794,362 (GRCm39)	C1189S	probably damaging	Het
Fgfr2	T	G	7: 129,786,923 (GRCm39)		probably benign	Het
Fmn2	A	G	1: 174,437,461 (GRCm39)	E1144G	probably damaging	Het
Fmo3	T	C	1: 162,796,407 (GRCm39)	Y55C	probably damaging	Het
Frmpd1	A	G	4: 45,229,865 (GRCm39)	T11A	probably damaging	Het
Ghdc	G	T	11: 100,660,929 (GRCm39)	Q79K	possibly damaging	Het
Gm11677	C	T	11: 111,615,537 (GRCm39)		noncoding transcript	Het
Gm5591	T	C	7: 38,221,680 (GRCm39)	T130A	probably damaging	Het
Heg1	T	G	16: 33,540,142 (GRCm39)	D367E	probably benign	Het
Igkv13-84	C	T	6: 68,916,894 (GRCm39)	P64S	probably damaging	Het
Il10rb	T	A	16: 91,211,545 (GRCm39)	S128T	possibly damaging	Het
Il15ra	T	A	2: 11,723,117 (GRCm39)	I47N	probably damaging	Het
Il33	C	A	19: 29,936,311 (GRCm39)	S207*	probably null	Het
Itgb7	A	G	15: 102,132,848 (GRCm39)	Y155H	possibly damaging	Het
Kdm5a	A	G	6: 120,346,060 (GRCm39)		probably benign	Het
Kif11	G	A	19: 37,406,397 (GRCm39)	V987I	probably benign	Het
Krtap19-2	G	A	16: 88,670,762 (GRCm39)		probably benign	Het
Krtap24-1	T	A	16: 88,408,417 (GRCm39)	R236S	probably damaging	Het
L3mbtl2	A	G	15: 81,566,813 (GRCm39)	I406V	probably benign	Het
Lrp2	A	T	2: 69,290,059 (GRCm39)	H3593Q	possibly damaging	Het
Mavs	G	T	2: 131,082,285 (GRCm39)	W56C	probably damaging	Het
Mn1	C	T	5: 111,567,526 (GRCm39)	P499S	probably damaging	Het
Ntn5	T	A	7: 45,340,895 (GRCm39)	C178S	probably damaging	Het
Nufip2	A	G	11: 77,577,154 (GRCm39)	H34R	unknown	Het
Or5p51	T	A	7: 107,444,755 (GRCm39)	M62L	possibly damaging	Het
Or6f2	T	A	7: 139,756,363 (GRCm39)	L110Q	probably damaging	Het
Osbpl10	C	T	9: 114,938,598 (GRCm39)	S86L	probably damaging	Het
Pitpna	T	A	11: 75,511,153 (GRCm39)	M242K	possibly damaging	Het
Pnpla6	T	C	8: 3,572,838 (GRCm39)	V345A	probably benign	Het
Polk	A	G	13: 96,632,999 (GRCm39)		probably null	Het
Polr3k	A	G	2: 181,506,340 (GRCm39)	Y30C	probably damaging	Het
Pramel6	A	G	2: 87,339,941 (GRCm39)	H235R	probably benign	Het
Ptpra	G	A	2: 130,379,537 (GRCm39)	V364I	probably damaging	Het
Recql	A	G	6: 142,309,426 (GRCm39)		probably benign	Het
Ring1	T	C	17: 34,241,263 (GRCm39)		probably benign	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Samsn1	C	A	16: 75,744,177 (GRCm39)		noncoding transcript	Het
Scara5	A	G	14: 65,968,198 (GRCm39)	H157R	probably benign	Het
Sdc3	C	T	4: 130,546,376 (GRCm39)	P245L	probably damaging	Het
Slc18b1	T	A	10: 23,696,767 (GRCm39)	M318K	possibly damaging	Het
Slc26a10	C	T	10: 127,009,224 (GRCm39)	A638T	possibly damaging	Het
Slc35f2	T	A	9: 53,717,013 (GRCm39)	W259R	possibly damaging	Het
Spata13	G	A	14: 60,991,356 (GRCm39)	W366*	probably null	Het
Sptlc3	A	G	2: 139,431,509 (GRCm39)	T344A	probably benign	Het
Tap1	T	C	17: 34,412,865 (GRCm39)	V560A	probably damaging	Het
Tbc1d1	T	C	5: 64,435,389 (GRCm39)		probably null	Het
Tlr11	A	G	14: 50,598,707 (GRCm39)	Y231C	possibly damaging	Het
Tmem245	A	T	4: 56,936,468 (GRCm39)	S230T	possibly damaging	Het
Tnnt3	C	T	7: 142,068,020 (GRCm39)		probably benign	Het
Traf7	C	G	17: 24,729,412 (GRCm39)		probably benign	Het
Tshz2	A	G	2: 169,804,601 (GRCm39)		probably benign	Het
Tshz3	T	C	7: 36,468,397 (GRCm39)	S129P	probably damaging	Het
Ttc6	A	T	12: 57,776,237 (GRCm39)	N1727I	probably damaging	Het
Ttc7b	A	G	12: 100,369,621 (GRCm39)	S383P	probably damaging	Het
Ube3b	T	C	5: 114,542,778 (GRCm39)		probably null	Het
Vav1	G	A	17: 57,603,552 (GRCm39)	V84I	probably damaging	Het
Vav3	A	T	3: 109,416,110 (GRCm39)	K243I	possibly damaging	Het
Vmn1r25	T	A	6: 57,956,011 (GRCm39)	I93F	probably damaging	Het
Vmn2r73	C	T	7: 85,520,923 (GRCm39)	W348*	probably null	Het
Zdbf2	A	G	1: 63,342,397 (GRCm39)	R259G	possibly damaging	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
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
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'- TTCACCAGAGGGGCAGAATG -3'
(R):5'- ATACCACTGAGCCATTTCCCTG -3'

Sequencing Primer
(F):5'- CAGAATGTTGCTCTTCTTGTGC -3'
(R):5'- CGTAACGTGGATATCTGACATGC -3'

Posted On

2015-12-29