Mutagenetix > Incidental Mutation

Incidental Mutation 'R6207:Tulp1'

503226

Institutional Source

Beutler Lab

Gene Symbol

Tulp1

Ensembl Gene

ENSMUSG00000037446

Gene Name

tubby like protein 1

Synonyms

Tulp1l

MMRRC Submission

044341-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.563) question?

Stock #

R6207 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

28570489-28584190 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to T at 28577651 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000121444 (fasta)

Gene Model

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

AlphaFold

Q9Z273

Predicted Effect

probably benign
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 benign
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

noncoding transcript
Transcript: ENSMUST00000125876

Predicted Effect

probably benign
Transcript: ENSMUST00000129375

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130877

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131604

Predicted Effect

unknown
Transcript: ENSMUST00000148188
AA Change: S6T

SMART Domains

Protein: ENSMUSP00000116844
Gene: ENSMUSG00000037446
AA Change: S6T

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140250

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150341

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142143

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930451I11Rik	G	A	7: 126,430,065 (GRCm39)	P69S	probably damaging	Het
Abca15	A	G	7: 119,973,017 (GRCm39)	R864G	probably benign	Het
Acbd5	T	C	2: 22,959,490 (GRCm39)	C15R	possibly damaging	Het
Ahctf1	A	T	1: 179,604,955 (GRCm39)		probably null	Het
Ak3	T	A	19: 29,000,340 (GRCm39)	K190N	probably damaging	Het
B4galnt3	A	T	6: 120,183,575 (GRCm39)		probably null	Het
Calcrl	T	C	2: 84,163,874 (GRCm39)	H439R	probably benign	Het
Casp7	T	A	19: 56,429,452 (GRCm39)	D279E	possibly damaging	Het
Cckar	A	G	5: 53,857,186 (GRCm39)	V337A	probably benign	Het
Cep85l	T	C	10: 53,157,651 (GRCm39)	Y684C	probably benign	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 105,036,102 (GRCm39)		probably benign	Homo
Commd7	T	C	2: 153,474,530 (GRCm39)	N23S	possibly damaging	Het
Cpne9	A	T	6: 113,271,734 (GRCm39)	I365F	possibly damaging	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dot1l	C	T	10: 80,622,277 (GRCm39)	A831V	probably benign	Het
Entrep1	T	C	19: 23,950,802 (GRCm39)	E593G	probably damaging	Het
Epcam	C	A	17: 87,947,864 (GRCm39)	N111K	probably damaging	Het
Etnk1	A	G	6: 143,126,524 (GRCm39)	Q123R	probably damaging	Het
Fam170a	A	T	18: 50,415,017 (GRCm39)	E221V	probably damaging	Het
Fbl	T	C	7: 27,874,278 (GRCm39)	S88P	possibly damaging	Het
Fbxo36	T	A	1: 84,874,251 (GRCm39)	Y82*	probably null	Het
Fer1l5	A	G	1: 36,424,241 (GRCm39)	K285R	probably damaging	Het
Foxn3	G	T	12: 99,162,569 (GRCm39)	T444K	probably damaging	Het
Gak	C	T	5: 108,772,895 (GRCm39)		probably null	Het
Gprc6a	T	C	10: 51,502,931 (GRCm39)	I311V	probably benign	Het
Hrg	T	C	16: 22,773,288 (GRCm39)		probably null	Het
Htatip2	G	A	7: 49,420,567 (GRCm39)	V138I	probably benign	Het
Ighv1-4	A	T	12: 114,451,142 (GRCm39)		probably benign	Het
Kcnq2	T	C	2: 180,755,026 (GRCm39)	M174V	possibly damaging	Het
Krt39	G	T	11: 99,412,041 (GRCm39)	P15Q	probably damaging	Het
L1td1	G	A	4: 98,625,655 (GRCm39)	D617N	possibly damaging	Het
Lgalsl	T	A	11: 20,779,382 (GRCm39)	K88*	probably null	Het
Lims1	A	T	10: 58,230,386 (GRCm39)	K49M	possibly damaging	Het
Man2a1	T	C	17: 65,020,600 (GRCm39)	V792A	probably benign	Het
Mcm2	G	T	6: 88,862,844 (GRCm39)	D749E	probably benign	Het
Mdga1	G	A	17: 30,057,491 (GRCm39)	T775M	probably damaging	Het
Myb	A	G	10: 21,021,221 (GRCm39)	S403P	probably benign	Het
Nek6	T	C	2: 38,447,846 (GRCm39)	S37P	possibly damaging	Het
Or10d1b	T	C	9: 39,613,606 (GRCm39)	H153R	probably benign	Het
Or14c46	A	C	7: 85,918,968 (GRCm39)	F10V	probably damaging	Het
Or52a33	A	G	7: 103,289,209 (GRCm39)	V46A	probably benign	Het
Or56b2j	G	A	7: 104,352,818 (GRCm39)	V15M	probably damaging	Het
Peg10	GAT	GATCAT	6: 4,756,449 (GRCm39)		probably benign	Het
Prpf40a	T	C	2: 53,047,927 (GRCm39)	M197V	probably benign	Het
Prune2	T	A	19: 17,095,480 (GRCm39)	I328N	probably damaging	Het
Psap	T	A	10: 60,136,317 (GRCm39)	C484S	probably damaging	Het
Pus1	T	C	5: 110,925,580 (GRCm39)	D80G	probably benign	Het
Rasa3	T	C	8: 13,648,251 (GRCm39)	T138A	possibly damaging	Het
Scaf1	G	T	7: 44,657,047 (GRCm39)		probably benign	Het
Skap1	T	A	11: 96,594,959 (GRCm39)	Y143*	probably null	Het
Slc22a20	A	G	19: 6,035,969 (GRCm39)	L67P	probably damaging	Het
Slc25a17	T	C	15: 81,213,265 (GRCm39)	Y146C	probably damaging	Het
Slfn4	C	T	11: 83,079,951 (GRCm39)	T154I	possibly damaging	Het
Snai1	T	A	2: 167,380,229 (GRCm39)	V7D	probably damaging	Het
Snrnp200	T	A	2: 127,052,655 (GRCm39)	M84K	probably benign	Het
Spop	G	T	11: 95,362,063 (GRCm39)	K31N	possibly damaging	Het
Surf1	T	C	2: 26,804,819 (GRCm39)	T145A	probably benign	Het
Tbkbp1	T	C	11: 97,037,165 (GRCm39)	E278G	probably damaging	Het
Thumpd2	G	A	17: 81,363,266 (GRCm39)	A67V	probably damaging	Het
Timd4	A	T	11: 46,706,353 (GRCm39)	M52L	probably damaging	Het
Trav16	A	T	14: 53,981,045 (GRCm39)	N78I	probably damaging	Het
Tspan12	T	C	6: 21,799,907 (GRCm39)	T147A	probably damaging	Het
Ubqlnl	A	T	7: 103,797,915 (GRCm39)	N527K	possibly damaging	Het
Ubr4	G	A	4: 139,148,559 (GRCm39)	C1681Y	probably damaging	Het
Unc13c	T	C	9: 73,665,910 (GRCm39)	K1037E	possibly damaging	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Vmn2r4	G	A	3: 64,313,926 (GRCm39)	H352Y	probably damaging	Het
Vmn2r61	A	T	7: 41,909,616 (GRCm39)	H47L	probably benign	Het
Vwa5a	A	G	9: 38,633,968 (GRCm39)	E57G	probably damaging	Het
Zfp180	A	T	7: 23,804,510 (GRCm39)	R310*	probably null	Het
Zfp672	T	C	11: 58,208,349 (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
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
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'- TTCGAAATGTCCTAGGCCGG -3'
(R):5'- TGCACCTGGACACTGAGAAG -3'

Sequencing Primer
(F):5'- AGACTTCTCTGGAGCACCC -3'
(R):5'- TGGAGCACGTCTAAGGCTG -3'

Posted On

2018-02-27