Mutagenetix > Incidental Mutations

Incidental Mutation 'R6416:Tulp1'

517965

Institutional Source

Beutler Lab

Gene Symbol

Tulp1

Ensembl Gene

ENSMUSG00000037446

Gene Name

tubby like protein 1

Synonyms

Tulp1l

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.502) question?

Stock #

R6416 (G1)

Quality Score

188.009

Status

Validated

Chromosome

Chromosomal Location

28351515-28365182 bp(-) (GRCm38)

Type of Mutation

makesense

DNA Base Change (assembly)

A to T at 28356031 bp

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Lysine at position 487 (*487K)

Ref Sequence

ENSEMBL: ENSMUSP00000110442 (fasta)

Gene Model

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

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 null
Transcript: ENSMUST00000114794
AA Change: *487K

SMART Domains

Protein: ENSMUSP00000110442
Gene: ENSMUSG00000037446
AA Change: *487K

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

noncoding transcript
Transcript: ENSMUST00000130877

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131604

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140250

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

Meta Mutation Damage Score

0.6328

Coding Region Coverage

1x: 100.0%
3x: 99.8%
10x: 98.4%
20x: 94.6%

Validation Efficiency

99% (67/68)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310061N02Rik	C	A	16: 88,707,891	R6L	unknown	Het
Anxa11	A	G	14: 25,874,270	Q235R	possibly damaging	Het
Ap2b1	T	A	11: 83,308,239	M1K	probably null	Het
Atl2	G	A	17: 79,850,223	T563I	probably benign	Het
Azin1	A	T	15: 38,492,343	S307R	possibly damaging	Het
Ccdc153	A	G	9: 44,245,780	T118A	probably benign	Het
Chac1	G	A	2: 119,353,534	V206I	probably damaging	Het
Chrm3	A	G	13: 9,877,662	V446A	probably benign	Het
Cped1	T	C	6: 22,123,649	F467S	probably damaging	Het
Csmd3	G	A	15: 48,673,560	P82L	probably damaging	Het
Ddx60	T	A	8: 61,977,950	S840T	probably benign	Het
Ddx60	C	T	8: 61,998,681	H1202Y	probably benign	Het
Dnah8	T	A	17: 30,765,635	N3102K	probably benign	Het
Dst	A	T	1: 34,116,128	K85M	probably damaging	Het
Ehbp1l1	T	C	19: 5,718,757	I839M	probably benign	Het
Fam184b	T	A	5: 45,537,653	M750L	probably benign	Het
Frem2	T	C	3: 53,572,378	T1965A	probably benign	Het
Ftl1	A	T	7: 45,459,210	D41E	probably benign	Het
Garem2	G	A	5: 30,116,737	W698*	probably null	Het
Glt8d2	T	C	10: 82,652,906	Y283C	probably damaging	Het
Hars	T	C	18: 36,773,590	E109G	possibly damaging	Het
Hspb9	T	C	11: 100,714,210	S121P	probably damaging	Het
Hus1b	A	T	13: 30,947,205	L157Q	probably damaging	Het
Hykk	A	G	9: 54,946,359	M322V	probably benign	Het
Igkv4-61	C	A	6: 69,417,154	A31S	possibly damaging	Het
Il17f	T	A	1: 20,777,907	M116L	probably benign	Het
Kif22	T	C	7: 127,028,932	K9E	possibly damaging	Het
Krt90	T	C	15: 101,559,244	E233G	probably benign	Het
Lipg	T	C	18: 74,957,236	M81V	probably benign	Het
Mocos	C	T	18: 24,701,456	S850L	probably damaging	Het
Mug2	T	A	6: 122,082,754	S1364T	probably damaging	Het
Neb	A	T	2: 52,185,328	N208K	probably benign	Het
Oca2	G	T	7: 56,328,767	R561L	probably benign	Het
Olfm5	A	G	7: 104,154,053	L401P	probably damaging	Het
Olfr109	T	A	17: 37,467,080	Y291*	probably null	Het
Olfr1238	C	A	2: 89,406,522	A186S	possibly damaging	Het
Olfr331	T	C	11: 58,502,340	D72G	probably damaging	Het
Olfr828	G	A	9: 18,815,892	T134M	probably benign	Het
Olfr952	T	A	9: 39,426,891	Y60F	probably damaging	Het
Oxgr1	T	C	14: 120,022,448	N116D	probably damaging	Het
Pcdha11	G	T	18: 37,012,169		probably null	Het
Pi4ka	T	C	16: 17,358,322	I418V	probably benign	Het
Pih1d2	T	C	9: 50,618,609	V62A	probably benign	Het
Pkib	T	A	10: 57,728,138	V46E	probably damaging	Het
Pum1	A	G	4: 130,728,287		probably null	Het
Rbak	G	T	5: 143,176,552	Q19K	possibly damaging	Het
Sema3c	A	G	5: 17,576,961	T32A	probably damaging	Het
Shprh	T	C	10: 11,167,873	W835R	probably damaging	Het
Sis	T	G	3: 72,911,854	K1456N	probably damaging	Het
Slc4a4	A	T	5: 89,179,729	N675I	probably benign	Het
Slc8a3	C	A	12: 81,315,627	M139I	probably damaging	Het
Sorcs3	T	C	19: 48,802,759	F1182S	probably damaging	Het
St8sia2	A	T	7: 73,971,921	I96N	probably damaging	Het
Stx19	T	C	16: 62,822,057	S79P	probably damaging	Het
Tecta	C	T	9: 42,375,267	V698M	probably damaging	Het
Timm22	T	C	11: 76,411,139	S150P	probably damaging	Het
Tjp1	C	T	7: 65,313,205	D995N	possibly damaging	Het
Tmem135	T	A	7: 89,147,794	T365S	probably benign	Het
Tmem174	T	C	13: 98,636,981	T114A	probably benign	Het
Tnc	A	G	4: 64,007,816	I909T	probably benign	Het
Trcg1	A	G	9: 57,241,330	I62V	possibly damaging	Het
Unc79	T	A	12: 103,131,646	V1826E	possibly damaging	Het
Vmn2r13	A	T	5: 109,174,116	N238K	probably damaging	Het
Vmn2r22	T	A	6: 123,637,738	N298Y	probably damaging	Het
Vmn2r23	T	A	6: 123,712,902	F246I	probably damaging	Het
Vps9d1	A	C	8: 123,248,639	V194G	probably damaging	Het
Zfp260	A	T	7: 30,104,810	H45L	possibly damaging	Het
Zfp846	A	T	9: 20,593,720	H292L	possibly damaging	Het

Other mutations in Tulp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01952:Tulp1	APN	17	28356424	missense	probably damaging	1.00
IGL01955:Tulp1	APN	17	28356424	missense	probably damaging	1.00
IGL02388:Tulp1	APN	17	28358659	missense	probably damaging	1.00
IGL02511:Tulp1	APN	17	28356168	missense	probably benign	0.15
IGL02973:Tulp1	APN	17	28358542	splice site	probably benign
IGL03054:Tulp1	APN	17	28359313	unclassified	probably benign
IGL03248:Tulp1	APN	17	28359324	missense	possibly damaging	0.87
R1017:Tulp1	UTSW	17	28364303	missense	probably damaging	1.00
R1543:Tulp1	UTSW	17	28362671	unclassified	probably benign
R1593:Tulp1	UTSW	17	28362701	missense	probably damaging	0.97
R1826:Tulp1	UTSW	17	28356367	missense	possibly damaging	0.89
R2323:Tulp1	UTSW	17	28362482	missense	probably damaging	1.00
R3840:Tulp1	UTSW	17	28353715	missense	probably damaging	1.00
R3841:Tulp1	UTSW	17	28353715	missense	probably damaging	1.00
R3930:Tulp1	UTSW	17	28353709	missense	probably damaging	1.00
R4690:Tulp1	UTSW	17	28351837	unclassified	probably benign
R4823:Tulp1	UTSW	17	28353572	missense	probably benign	0.01
R4916:Tulp1	UTSW	17	28359135	missense	probably damaging	1.00
R5024:Tulp1	UTSW	17	28351995	nonsense	probably null
R5159:Tulp1	UTSW	17	28359060	critical splice donor site	probably null
R5249:Tulp1	UTSW	17	28362677	unclassified	probably benign
R5567:Tulp1	UTSW	17	28359198	missense	possibly damaging	0.47
R6072:Tulp1	UTSW	17	28363784	missense	possibly damaging	0.71
R6127:Tulp1	UTSW	17	28356150	missense	probably benign
R6207:Tulp1	UTSW	17	28358677	unclassified	probably benign
R6773:Tulp1	UTSW	17	28362902	missense	probably damaging	1.00
R7242:Tulp1	UTSW	17	28363405	intron	probably null
R7323:Tulp1	UTSW	17	28356424	missense	probably damaging	1.00
R7542:Tulp1	UTSW	17	28363755	missense	probably benign	0.26
X0024:Tulp1	UTSW	17	28353697	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCTACAAGAGGGATCGTATTG -3'
(R):5'- TCCTGGAATGAACTCGGACAAC -3'

Sequencing Primer
(F):5'- AGCCTGGTCTCCATAGTGAGACTC -3'
(R):5'- GACAACGAGAGGGTCCCTATC -3'

Posted On

2018-05-24