Mutagenetix > Incidental Mutation

Incidental Mutation 'R5567:Tulp1'

436970

Institutional Source

Beutler Lab

Gene Symbol

Tulp1

Ensembl Gene

ENSMUSG00000037446

Gene Name

tubby like protein 1

Synonyms

Tulp1l

MMRRC Submission

043124-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.527) question?

Stock #

R5567 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

28570489-28584190 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 28578172 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 289 (V289A)

Ref Sequence

ENSEMBL: ENSMUSP00000049070 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041819] [ENSMUST00000114794] [ENSMUST00000123797] [ENSMUST00000129375]

AlphaFold

Q9Z273

Predicted Effect

possibly damaging
Transcript: ENSMUST00000041819
AA Change: V289A

PolyPhen 2 Score 0.474 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000049070
Gene: ENSMUSG00000037446
AA Change: V289A

Domain	Start	End	E-Value	Type
internal_repeat_1	17	65	8.47e-7	PROSPERO
low complexity region	111	142	N/A	INTRINSIC
low complexity region	144	158	N/A	INTRINSIC
internal_repeat_1	160	212	8.47e-7	PROSPERO
coiled coil region	242	266	N/A	INTRINSIC
Pfam:Tub	299	537	1.8e-82	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000114794
AA Change: V289A

PolyPhen 2 Score 0.172 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000110442
Gene: ENSMUSG00000037446
AA Change: V289A

Domain	Start	End	E-Value	Type
internal_repeat_1	17	65	8.5e-7	PROSPERO
low complexity region	111	142	N/A	INTRINSIC
low complexity region	144	158	N/A	INTRINSIC
internal_repeat_1	160	212	8.5e-7	PROSPERO
coiled coil region	242	266	N/A	INTRINSIC
Pfam:Tub	299	449	3.4e-59	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000123797
AA Change: V11A

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000116588
Gene: ENSMUSG00000037446
AA Change: V11A

Domain	Start	End	E-Value	Type
Pfam:Tub	21	228	2.1e-88	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125876

Predicted Effect

probably benign
Transcript: ENSMUST00000129375

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130877

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131604

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140250

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146493

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150341

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142143

Predicted Effect

probably benign
Transcript: ENSMUST00000148188

SMART Domains

Protein: ENSMUSP00000116844
Gene: ENSMUSG00000037446

Domain	Start	End	E-Value	Type
Pfam:Tub	5	214	8.8e-76	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.0%

Validation Efficiency

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-like gene family (TULPs). Members of this family have been identified in plants, vertebrates, and invertebrates. TULP proteins share a conserved C-terminal region of approximately 200 amino acid residues. The protein encoded by this gene is thought to play a role in the physiology of photoreceptors. Mutations in this gene are associated with recessive juvenile retinitis pigmentosa and Leber congenital amaurosis-15. [provided by RefSeq, Nov 2016]
PHENOTYPE: Homozygous mutant mice exhibit retinal degeneration. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aak1	C	T	6: 86,932,150 (GRCm39)	Q374*	probably null	Het
Adam19	A	G	11: 46,027,077 (GRCm39)	D570G	probably damaging	Het
Aqr	G	A	2: 113,979,451 (GRCm39)	T328M	probably damaging	Het
Bltp3b	T	A	10: 89,644,383 (GRCm39)	M29K	probably benign	Het
Boc	G	A	16: 44,313,187 (GRCm39)	T559I	probably damaging	Het
Cadps	A	T	14: 12,473,497 (GRCm38)	I876N	possibly damaging	Het
Cdh9	A	G	15: 16,855,930 (GRCm39)	T657A	probably damaging	Het
Cep104	T	C	4: 154,086,734 (GRCm39)	S794P	possibly damaging	Het
Cep72	T	C	13: 74,188,260 (GRCm39)	Q211R	probably benign	Het
Coq6	T	A	12: 84,415,413 (GRCm39)	D145E	probably benign	Het
Crym	T	C	7: 119,801,116 (GRCm39)	E11G	probably benign	Het
Csmd3	A	T	15: 47,508,864 (GRCm39)	M2907K	possibly damaging	Het
Cspg4	A	C	9: 56,793,932 (GRCm39)	I556L	probably benign	Het
Cwf19l2	T	A	9: 3,456,831 (GRCm39)	D721E	probably damaging	Het
Defb36	T	A	2: 152,454,503 (GRCm39)	V54E	probably damaging	Het
Dlg5	C	A	14: 24,242,981 (GRCm39)	E55*	probably null	Het
Dna2	G	T	10: 62,802,452 (GRCm39)	A857S	possibly damaging	Het
E330034G19Rik	A	G	14: 24,346,892 (GRCm39)	K60E	possibly damaging	Het
Eps8l2	G	A	7: 140,934,920 (GRCm39)	R76Q	possibly damaging	Het
Fbxl18	A	G	5: 142,881,022 (GRCm39)		probably benign	Het
Flnc	T	A	6: 29,444,044 (GRCm39)	C619*	probably null	Het
Ftcd	A	G	10: 76,423,967 (GRCm39)	K503E	probably benign	Het
Gbp2b	C	T	3: 142,317,126 (GRCm39)	A494V	possibly damaging	Het
Gfral	C	T	9: 76,115,900 (GRCm39)	A25T	probably benign	Het
Gins2	T	A	8: 121,315,684 (GRCm39)	D24V	possibly damaging	Het
Gm10985	T	C	3: 53,752,683 (GRCm39)	I22T	probably damaging	Het
Golga4	T	A	9: 118,387,251 (GRCm39)	S1458T	probably damaging	Het
Gpatch1	T	C	7: 35,006,640 (GRCm39)	K176R	probably damaging	Het
Gsto1	T	C	19: 47,846,338 (GRCm39)	W62R	probably damaging	Het
Gtf2h3	C	T	5: 124,722,360 (GRCm39)	T121I	probably benign	Het
Gxylt1	A	G	15: 93,152,180 (GRCm39)		probably null	Het
Hs6st1	C	T	1: 36,142,719 (GRCm39)	P218L	probably benign	Het
Itpr3	C	T	17: 27,322,880 (GRCm39)	T1119M	possibly damaging	Het
Kif5c	A	G	2: 49,620,211 (GRCm39)	D226G	possibly damaging	Het
Klk1b1	T	A	7: 43,620,593 (GRCm39)	S228T	probably damaging	Het
Krt1	A	G	15: 101,755,340 (GRCm39)	F473S	probably benign	Het
Large1	A	G	8: 73,564,081 (GRCm39)	S562P	possibly damaging	Het
Lpxn	T	A	19: 12,810,023 (GRCm39)	M265K	possibly damaging	Het
Lrriq1	G	A	10: 103,006,457 (GRCm39)	P1223S	possibly damaging	Het
Map3k9	A	G	12: 81,778,798 (GRCm39)	L505P	possibly damaging	Het
Morn2	A	G	17: 80,604,709 (GRCm39)	D128G	probably damaging	Het
Msl2	A	G	9: 100,978,936 (GRCm39)	K437E	possibly damaging	Het
Msr1	T	C	8: 40,064,760 (GRCm39)	I305V	probably benign	Het
Muc4	A	G	16: 32,598,066 (GRCm39)	E3237G	possibly damaging	Het
Mxra8	T	C	4: 155,925,465 (GRCm39)	M58T	probably damaging	Het
Myo16	A	G	8: 10,372,676 (GRCm39)	D125G	probably damaging	Het
Myom2	A	G	8: 15,152,546 (GRCm39)	Q631R	probably benign	Het
Nlrp1b	T	A	11: 71,072,229 (GRCm39)	H538L	probably benign	Het
Nme3	T	A	17: 25,115,823 (GRCm39)		probably null	Het
Nop2	T	C	6: 125,110,726 (GRCm39)	S68P	probably benign	Het
Nploc4	C	T	11: 120,275,440 (GRCm39)	V499M	probably benign	Het
Nub1	A	G	5: 24,913,814 (GRCm39)	E565G	possibly damaging	Het
Or1e19	C	T	11: 73,316,272 (GRCm39)	C179Y	probably damaging	Het
Or6e1	A	G	14: 54,519,825 (GRCm39)	F176L	probably damaging	Het
Or7e168	A	G	9: 19,719,674 (GRCm39)	D20G	probably damaging	Het
Or9g3	G	A	2: 85,589,994 (GRCm39)	S242F	probably damaging	Het
Parl	A	G	16: 20,101,762 (GRCm39)	M90T	probably damaging	Het
Pelo	T	C	13: 115,226,152 (GRCm39)	I102V	probably benign	Het
Pigt	T	A	2: 164,343,482 (GRCm39)	Y319*	probably null	Het
Plb1	A	G	5: 32,521,543 (GRCm39)	T1465A	unknown	Het
Plxna4	T	C	6: 32,134,915 (GRCm39)	N1763D	possibly damaging	Het
Pmpca	A	G	2: 26,280,553 (GRCm39)	E133G	probably damaging	Het
Pus7l	G	A	15: 94,425,746 (GRCm39)	P552S	probably benign	Het
Qsox2	A	G	2: 26,115,230 (GRCm39)	M1T	probably null	Het
Ralb	C	T	1: 119,411,265 (GRCm39)	V25I	probably damaging	Het
Rbbp6	A	G	7: 122,601,057 (GRCm39)		probably benign	Het
Rnf43	A	G	11: 87,618,271 (GRCm39)	E187G	probably damaging	Het
Rpl31	C	T	1: 39,409,108 (GRCm39)	R41C	probably benign	Het
Scap	A	G	9: 110,206,712 (GRCm39)	S386G	probably damaging	Het
Skint10	T	C	4: 112,573,067 (GRCm39)	Y243C	probably damaging	Het
Stpg2	A	G	3: 139,125,547 (GRCm39)	T447A	probably benign	Het
Tas1r1	G	A	4: 152,122,782 (GRCm39)	A21V	probably damaging	Het
Tas2r122	C	T	6: 132,688,335 (GRCm39)	G186E	probably benign	Het
Tenm4	C	A	7: 96,545,416 (GRCm39)	Y2477*	probably null	Het
Them7	A	G	2: 105,209,153 (GRCm39)	T158A	probably benign	Het
Tmcc2	A	C	1: 132,285,543 (GRCm39)	S608A	probably benign	Het
Ttc41	T	C	10: 86,596,784 (GRCm39)		probably null	Het
Ttk	T	A	9: 83,744,588 (GRCm39)	N593K	possibly damaging	Het
Unc93a2	T	C	17: 7,631,202 (GRCm39)	T456A	probably benign	Het
Usp34	A	C	11: 23,438,336 (GRCm39)	Q278P	probably damaging	Het
Vmn2r78	T	A	7: 86,570,737 (GRCm39)	D418E	probably benign	Het
Vmn2r90	C	T	17: 17,932,336 (GRCm39)	A81V	probably damaging	Het
Xpc	T	A	6: 91,475,117 (GRCm39)	N636I	probably damaging	Het
Zfp563	A	T	17: 33,308,431 (GRCm39)		probably benign	Het

Other mutations in Tulp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01952:Tulp1	APN	17	28,575,398 (GRCm39)	missense	probably damaging	1.00
IGL01955:Tulp1	APN	17	28,575,398 (GRCm39)	missense	probably damaging	1.00
IGL02388:Tulp1	APN	17	28,577,633 (GRCm39)	missense	probably damaging	1.00
IGL02511:Tulp1	APN	17	28,575,142 (GRCm39)	missense	probably benign	0.15
IGL02973:Tulp1	APN	17	28,577,516 (GRCm39)	splice site	probably benign
IGL03054:Tulp1	APN	17	28,578,287 (GRCm39)	unclassified	probably benign
IGL03248:Tulp1	APN	17	28,578,298 (GRCm39)	missense	possibly damaging	0.87
BB006:Tulp1	UTSW	17	28,572,746 (GRCm39)	missense	possibly damaging	0.87
BB016:Tulp1	UTSW	17	28,572,746 (GRCm39)	missense	possibly damaging	0.87
R1017:Tulp1	UTSW	17	28,583,277 (GRCm39)	missense	probably damaging	1.00
R1543:Tulp1	UTSW	17	28,581,645 (GRCm39)	unclassified	probably benign
R1593:Tulp1	UTSW	17	28,581,675 (GRCm39)	missense	probably damaging	0.97
R1826:Tulp1	UTSW	17	28,575,341 (GRCm39)	missense	possibly damaging	0.89
R2323:Tulp1	UTSW	17	28,581,456 (GRCm39)	missense	probably damaging	1.00
R3840:Tulp1	UTSW	17	28,572,689 (GRCm39)	missense	probably damaging	1.00
R3841:Tulp1	UTSW	17	28,572,689 (GRCm39)	missense	probably damaging	1.00
R3930:Tulp1	UTSW	17	28,572,683 (GRCm39)	missense	probably damaging	1.00
R4690:Tulp1	UTSW	17	28,570,811 (GRCm39)	unclassified	probably benign
R4823:Tulp1	UTSW	17	28,572,546 (GRCm39)	missense	probably benign	0.01
R4916:Tulp1	UTSW	17	28,578,109 (GRCm39)	missense	probably damaging	1.00
R5024:Tulp1	UTSW	17	28,570,969 (GRCm39)	nonsense	probably null
R5159:Tulp1	UTSW	17	28,578,034 (GRCm39)	critical splice donor site	probably null
R5249:Tulp1	UTSW	17	28,581,651 (GRCm39)	unclassified	probably benign
R6072:Tulp1	UTSW	17	28,582,758 (GRCm39)	missense	possibly damaging	0.71
R6127:Tulp1	UTSW	17	28,575,124 (GRCm39)	missense	probably benign
R6207:Tulp1	UTSW	17	28,577,651 (GRCm39)	unclassified	probably benign
R6416:Tulp1	UTSW	17	28,575,005 (GRCm39)	makesense	probably null
R6773:Tulp1	UTSW	17	28,581,876 (GRCm39)	missense	probably damaging	1.00
R7242:Tulp1	UTSW	17	28,582,379 (GRCm39)	splice site	probably null
R7323:Tulp1	UTSW	17	28,575,398 (GRCm39)	missense	probably damaging	1.00
R7542:Tulp1	UTSW	17	28,582,729 (GRCm39)	missense	probably benign	0.26
R7929:Tulp1	UTSW	17	28,572,746 (GRCm39)	missense	possibly damaging	0.87
R8195:Tulp1	UTSW	17	28,583,300 (GRCm39)	missense	probably benign	0.00
R8546:Tulp1	UTSW	17	28,582,710 (GRCm39)	missense	probably benign	0.03
R8930:Tulp1	UTSW	17	28,583,468 (GRCm39)	missense	probably benign	0.37
R8932:Tulp1	UTSW	17	28,583,468 (GRCm39)	missense	probably benign	0.37
R9292:Tulp1	UTSW	17	28,582,738 (GRCm39)	nonsense	probably null
R9593:Tulp1	UTSW	17	28,572,802 (GRCm39)	nonsense	probably null
X0024:Tulp1	UTSW	17	28,572,671 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGTTGGCTGTCTTACTCCGC -3'
(R):5'- CCAGGCCTGTATGATAGACG -3'

Sequencing Primer
(F):5'- TCAGTCCTAGACACCGGC -3'
(R):5'- CAGGCCTGTATGATAGACGTAGCTC -3'

Posted On

2016-10-24