Mutagenetix > Incidental Mutation

Incidental Mutation 'R7242:Tulp1'

574707

Institutional Source

Beutler Lab

Gene Symbol

Tulp1

Ensembl Gene

ENSMUSG00000037446

Gene Name

tubby like protein 1

Synonyms

Tulp1l

MMRRC Submission

045349-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.527) question?

Stock #

R7242 (G1)

Quality Score

124.008

Status

Validated

Chromosome

Chromosomal Location

28570489-28584190 bp(-) (GRCm39)

Type of Mutation

splice site (281 bp from exon)

DNA Base Change (assembly)

T to C at 28582379 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000110442 (fasta)

Gene Model

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

AlphaFold

Q9Z273

Predicted Effect

probably null
Transcript: ENSMUST00000041819

SMART Domains

Protein: ENSMUSP00000049070
Gene: ENSMUSG00000037446

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 null
Transcript: ENSMUST00000114794

SMART Domains

Protein: ENSMUSP00000110442
Gene: ENSMUSG00000037446

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

SMART Domains

Protein: ENSMUSP00000116588
Gene: ENSMUSG00000037446

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

Predicted Effect

probably benign
Transcript: ENSMUST00000129375

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

Validation Efficiency

100% (73/73)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001J03Rik	A	T	5: 146,121,677 (GRCm39)	I74N	probably damaging	Het
Abca6	A	T	11: 110,132,479 (GRCm39)	V272D	possibly damaging	Het
Acot11	A	T	4: 106,619,690 (GRCm39)	S163R	probably benign	Het
Adcy5	T	C	16: 34,977,205 (GRCm39)	L246P	probably damaging	Het
Adgra1	A	T	7: 139,427,573 (GRCm39)		probably null	Het
Adgra2	A	G	8: 27,612,055 (GRCm39)	T1335A	probably damaging	Het
Aoc1l2	A	T	6: 48,908,062 (GRCm39)	Y354F	probably damaging	Het
Armt1	T	C	10: 4,403,475 (GRCm39)	S187P	probably damaging	Het
Azin1	T	C	15: 38,501,749 (GRCm39)	M1V	probably null	Het
B430305J03Rik	C	T	3: 61,271,256 (GRCm39)	C163Y	unknown	Het
Cables1	T	C	18: 11,973,064 (GRCm39)	S68P	possibly damaging	Het
Cacna1d	A	G	14: 29,900,663 (GRCm39)	F341L	probably benign	Het
Ccdc90b	T	A	7: 92,221,776 (GRCm39)	H118Q	probably damaging	Het
Ccn5	T	C	2: 163,670,772 (GRCm39)	F93S	probably benign	Het
Celf1	T	A	2: 90,833,602 (GRCm39)	C119*	probably null	Het
Cfap57	C	T	4: 118,450,293 (GRCm39)	V610M	possibly damaging	Het
Chrm4	T	A	2: 91,757,595 (GRCm39)	M1K	probably null	Het
Chrnd	C	T	1: 87,125,201 (GRCm39)	T418I	probably damaging	Het
Coch	G	T	12: 51,640,344 (GRCm39)		probably benign	Het
Cop1	A	G	1: 159,112,118 (GRCm39)	T345A	probably benign	Het
Cops6	A	G	5: 138,161,842 (GRCm39)	T96A	probably benign	Het
Corin	T	C	5: 72,462,398 (GRCm39)	I945V	probably benign	Het
Cyp2c67	G	T	19: 39,605,783 (GRCm39)	T371N	probably benign	Het
Dap	T	A	15: 31,273,454 (GRCm39)	*103R	probably null	Het
Defb35	T	A	8: 22,430,773 (GRCm39)	V49E	unknown	Het
Dmtf1	T	A	5: 9,199,016 (GRCm39)	D39V	possibly damaging	Het
Dmtn	T	C	14: 70,855,460 (GRCm39)	T10A	probably damaging	Het
Dnajc1	C	T	2: 18,298,783 (GRCm39)	E264K	probably benign	Het
Dtx3l	A	T	16: 35,753,771 (GRCm39)	N278K	possibly damaging	Het
Fam161a	T	A	11: 22,970,037 (GRCm39)	S72T	possibly damaging	Het
Fnbp4	T	A	2: 90,576,140 (GRCm39)	S114T	unknown	Het
Focad	T	G	4: 88,228,143 (GRCm39)	I784S	unknown	Het
Fzd8	A	T	18: 9,214,171 (GRCm39)	T418S	probably damaging	Het
Gclc	A	G	9: 77,692,653 (GRCm39)	Y264C	probably benign	Het
Ggn	G	A	7: 28,872,459 (GRCm39)	C649Y	possibly damaging	Het
Gys1	A	G	7: 45,089,092 (GRCm39)		probably null	Het
Hsd3b1	T	C	3: 98,760,526 (GRCm39)	Y155C	probably damaging	Het
Htatip2	A	G	7: 49,422,354 (GRCm39)	K191E	probably benign	Het
Ik	A	T	18: 36,881,275 (GRCm39)	S79C	probably null	Het
Kin	G	A	2: 10,096,604 (GRCm39)	R151Q	probably benign	Het
Kpna2rt	G	A	17: 90,217,563 (GRCm39)	T61I	probably benign	Het
Mast4	A	G	13: 102,874,986 (GRCm39)	S1461P	probably damaging	Het
Melk	T	A	4: 44,360,885 (GRCm39)	V555E	probably damaging	Het
Met	G	A	6: 17,491,316 (GRCm39)	C26Y	probably damaging	Het
Mfsd6	A	T	1: 52,748,633 (GRCm39)	F77L	probably damaging	Het
Mib1	T	A	18: 10,741,011 (GRCm39)	D86E	probably damaging	Het
Myl10	G	C	5: 136,726,825 (GRCm39)	V70L	probably benign	Het
Or12e8	G	A	2: 87,188,426 (GRCm39)	V213I	probably benign	Het
Or56b1b	T	G	7: 108,164,919 (GRCm39)	S28R	probably benign	Het
Or7a36	A	T	10: 78,820,331 (GRCm39)	K236*	probably null	Het
Or8g21	A	G	9: 38,906,437 (GRCm39)	I98T	probably benign	Het
Patj	A	T	4: 98,480,170 (GRCm39)	I1296L	probably benign	Het
Pcdh1	C	T	18: 38,336,270 (GRCm39)	V122M	probably benign	Het
Pcdhac2	A	T	18: 37,277,946 (GRCm39)	I309F	possibly damaging	Het
Phf8-ps	A	G	17: 33,286,101 (GRCm39)	Y234H	probably damaging	Het
Phtf1	A	G	3: 103,906,012 (GRCm39)	S565G	probably damaging	Het
Plekha2	A	C	8: 25,578,411 (GRCm39)	F30V	probably damaging	Het
Ptbp1	A	G	10: 79,692,222 (GRCm39)	M20V	unknown	Het
Pth2r	A	G	1: 65,427,779 (GRCm39)	D484G	probably benign	Het
Rapgef2	G	A	3: 78,995,210 (GRCm39)	Q665*	probably null	Het
Scamp1	G	A	13: 94,369,648 (GRCm39)	T59I	probably benign	Het
Sema4a	T	A	3: 88,357,416 (GRCm39)	D230V	probably damaging	Het
Snw1	C	T	12: 87,515,415 (GRCm39)	G45R	possibly damaging	Het
Sox30	T	A	11: 45,875,347 (GRCm39)		probably null	Het
Sspo	T	A	6: 48,450,886 (GRCm39)	I2665K	probably benign	Het
Stx5a	T	A	19: 8,732,641 (GRCm39)	W437R	unknown	Het
Tln1	A	G	4: 43,542,602 (GRCm39)	V1402A	probably benign	Het
Tpm1	A	G	9: 66,935,383 (GRCm39)	L244P	probably benign	Het
Try5	T	A	6: 41,290,388 (GRCm39)	E32V	probably benign	Het
Ttn	T	C	2: 76,552,073 (GRCm39)	N31188S	probably benign	Het
Usp13	T	G	3: 32,919,892 (GRCm39)		probably null	Het
Vax2	A	G	6: 83,688,298 (GRCm39)	E7G	possibly damaging	Het
Vmn2r45	A	T	7: 8,488,612 (GRCm39)	Y139*	probably null	Het
Zfp423	T	C	8: 88,631,155 (GRCm39)	D21G	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
R5567:Tulp1	UTSW	17	28,578,172 (GRCm39)	missense	possibly damaging	0.47
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
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'- CTGGCTAGGAACCAGCTTAAG -3'
(R):5'- CTTTGTGAAGAGTCTGCCCC -3'

Sequencing Primer
(F):5'- TGAACAACGCTAGGCCTTCG -3'
(R):5'- GTGAAGAGTCTGCCCCCTTCC -3'

Posted On

2019-10-07