Mutagenetix > Incidental Mutation

Incidental Mutation 'R4690:Tulp1'

386377

Institutional Source

Beutler Lab

Gene Symbol

Tulp1

Ensembl Gene

ENSMUSG00000037446

Gene Name

tubby like protein 1

Synonyms

Tulp1l

MMRRC Submission

041941-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.563) question?

Stock #

R4690 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

28570489-28584190 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to C at 28570811 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000115443 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041819] [ENSMUST00000114794] [ENSMUST00000114799] [ENSMUST00000123797] [ENSMUST00000129375] [ENSMUST00000156862] [ENSMUST00000154873]

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: ENSMUST00000114799

SMART Domains

Protein: ENSMUSP00000110447
Gene: ENSMUSG00000002249

Domain	Start	End	E-Value	Type
low complexity region	8	19	N/A	INTRINSIC
TEA	52	123	9.04e-52	SMART
low complexity region	150	165	N/A	INTRINSIC
low complexity region	181	202	N/A	INTRINSIC
low complexity region	208	222	N/A	INTRINSIC
low complexity region	227	244	N/A	INTRINSIC
PDB:3KYS\|C	248	465	1e-120	PDB

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: ENSMUST00000127212

Predicted Effect

probably benign
Transcript: ENSMUST00000129375

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130877

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142143

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140250

Predicted Effect

probably benign
Transcript: ENSMUST00000156862

SMART Domains

Protein: ENSMUSP00000115443
Gene: ENSMUSG00000002249

Domain	Start	End	E-Value	Type
Pfam:TEA	1	366	3.8e-149	PFAM

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

Predicted Effect

probably benign
Transcript: ENSMUST00000154873

SMART Domains

Protein: ENSMUSP00000118582
Gene: ENSMUSG00000002249

Domain	Start	End	E-Value	Type
Pfam:TEA	1	366	3.8e-149	PFAM

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.5%

Validation Efficiency

98% (89/91)

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	A	G	11: 110,039,706 (GRCm39)	F436L	probably damaging	Het
Adam28	G	T	14: 68,879,497 (GRCm39)	Q184K	probably benign	Het
Adh6a	A	G	3: 138,031,932 (GRCm39)	T275A	possibly damaging	Het
Agap2	A	G	10: 126,927,244 (GRCm39)	D1082G	possibly damaging	Het
Alox5	A	T	6: 116,400,150 (GRCm39)	V263E	probably damaging	Het
Arhgef16	C	T	4: 154,372,420 (GRCm39)		probably null	Het
Bspry	G	A	4: 62,404,762 (GRCm39)	R186Q	probably damaging	Het
Ccdc188	T	A	16: 18,036,159 (GRCm39)	H111Q	probably damaging	Het
Cd40	T	C	2: 164,911,615 (GRCm39)	F209S	possibly damaging	Het
Cfap43	C	A	19: 47,736,298 (GRCm39)	V1398L	probably benign	Het
Cln3	A	T	7: 126,174,565 (GRCm39)	I286N	possibly damaging	Het
Col9a1	T	C	1: 24,263,787 (GRCm39)		probably null	Het
Cpne9	A	G	6: 113,279,016 (GRCm39)	E470G	probably damaging	Het
Cul5	A	T	9: 53,534,171 (GRCm39)	W654R	probably damaging	Het
Cyp2a22	T	A	7: 26,638,634 (GRCm39)	K51*	probably null	Het
Dcaf10	G	A	4: 45,372,769 (GRCm39)	R394Q	possibly damaging	Het
Dot1l	C	A	10: 80,622,016 (GRCm39)	S556*	probably null	Het
Eif3d	A	T	15: 77,851,516 (GRCm39)	M98K	probably benign	Het
Fiz1	A	G	7: 5,012,167 (GRCm39)	V117A	probably benign	Het
Fryl	A	G	5: 73,257,636 (GRCm39)	V722A	probably benign	Het
Ftdc1	G	A	16: 58,434,333 (GRCm39)	T128I	probably benign	Het
Gm3095	G	T	14: 3,964,471 (GRCm38)	R63I	probably benign	Het
Gm7133	A	T	1: 97,197,224 (GRCm39)		noncoding transcript	Het
Hoxb8	A	T	11: 96,175,286 (GRCm39)	D241V	probably benign	Het
Hrnr	A	G	3: 93,230,959 (GRCm39)	Q399R	unknown	Het
Itpk1	A	T	12: 102,572,434 (GRCm39)	V93D	probably damaging	Het
Kars1	C	T	8: 112,729,216 (GRCm39)	A164T	probably benign	Het
Kcnq4	A	T	4: 120,574,208 (GRCm39)	I150N	probably damaging	Het
Kcnrg	A	T	14: 61,849,176 (GRCm39)	L212F	probably damaging	Het
Kif5b	A	T	18: 6,216,759 (GRCm39)	D521E	probably benign	Het
Klf11	C	T	12: 24,705,071 (GRCm39)	T158M	probably damaging	Het
Klhl6	T	C	16: 19,776,034 (GRCm39)	I175V	probably benign	Het
Lsm1	A	G	8: 26,283,708 (GRCm39)	N40S	probably damaging	Het
Map1b	T	C	13: 99,567,576 (GRCm39)	E1715G	unknown	Het
Mecom	C	A	3: 30,292,459 (GRCm39)	A4S	probably benign	Het
Muc5b	G	A	7: 141,396,031 (GRCm39)	V96M	unknown	Het
Mug2	A	T	6: 122,013,255 (GRCm39)	I341L	probably benign	Het
Mxra7	A	T	11: 116,707,078 (GRCm39)		probably null	Het
Myo5a	T	C	9: 75,061,105 (GRCm39)	L537P	probably damaging	Het
Myo5b	A	T	18: 74,855,533 (GRCm39)	N1241Y	probably damaging	Het
Naa16	T	C	14: 79,582,497 (GRCm39)	R531G	probably damaging	Het
Neb	T	A	2: 52,134,087 (GRCm39)	M3299L	probably benign	Het
Nlrp4b	T	A	7: 10,453,130 (GRCm39)	Y76N	probably benign	Het
Nmral1	T	C	16: 4,534,205 (GRCm39)	T79A	probably damaging	Het
Noct	C	T	3: 51,155,300 (GRCm39)	Q23*	probably null	Het
Nrxn1	A	T	17: 90,344,509 (GRCm39)	V438D	probably damaging	Het
Or5b109	A	C	19: 13,212,132 (GRCm39)	N173H	possibly damaging	Het
Or5m9	T	A	2: 85,877,242 (GRCm39)	C139S	probably damaging	Het
Oxct2a	T	C	4: 123,216,836 (GRCm39)	T182A	probably benign	Het
Pank2	T	C	2: 131,115,945 (GRCm39)	I121T	probably damaging	Het
Pcdh1	T	A	18: 38,336,528 (GRCm39)	T36S	probably benign	Het
Pfdn1	A	T	18: 36,584,133 (GRCm39)	M67K	possibly damaging	Het
Plec	T	C	15: 76,058,456 (GRCm39)	E3849G	probably damaging	Het
Polr3a	A	T	14: 24,514,349 (GRCm39)	S817T	possibly damaging	Het
Pomgnt1	T	A	4: 116,012,707 (GRCm39)	D401E	probably damaging	Het
Ppp1r13b	T	A	12: 111,798,992 (GRCm39)	D891V	probably damaging	Het
Prr14l	A	G	5: 33,001,500 (GRCm39)		probably benign	Het
Ptk2b	A	G	14: 66,410,749 (GRCm39)		probably null	Het
Rab13	G	C	3: 90,128,330 (GRCm39)		probably null	Het
Rexo1	C	T	10: 80,382,255 (GRCm39)	A751T	probably benign	Het
Rfx1	T	C	8: 84,809,374 (GRCm39)	V233A	possibly damaging	Het
Rnf149	C	T	1: 39,616,295 (GRCm39)		probably benign	Het
Rrm1	A	G	7: 102,097,086 (GRCm39)	D122G	probably benign	Het
Serpina1b	A	G	12: 103,698,639 (GRCm39)	F70S	probably damaging	Het
Serpinb13	C	T	1: 106,910,574 (GRCm39)	S66L	probably damaging	Het
Sh3rf3	T	C	10: 58,649,526 (GRCm39)	S44P	possibly damaging	Het
Shroom1	A	G	11: 53,356,549 (GRCm39)	T471A	possibly damaging	Het
Slc6a1	A	G	6: 114,279,792 (GRCm39)	Y152C	probably damaging	Het
Spata31f3	T	A	4: 42,873,032 (GRCm39)		probably null	Het
Spata6	A	T	4: 111,632,023 (GRCm39)	T145S	probably damaging	Het
Srcap	G	A	7: 127,137,186 (GRCm39)	G956D	probably damaging	Het
Ssh2	A	T	11: 77,346,031 (GRCm39)	I1339F	possibly damaging	Het
Tardbp	A	T	4: 148,697,078 (GRCm39)	*99K	probably null	Het
Tbc1d22a	A	G	15: 86,196,037 (GRCm39)	Y336C	probably damaging	Het
Tmcc3	G	A	10: 94,381,419 (GRCm39)		probably benign	Het
Tmem178b	T	G	6: 40,222,547 (GRCm39)	D87E	probably benign	Het
Tmem184a	A	C	5: 139,791,377 (GRCm39)	S380A	probably benign	Het
Tnfaip2	A	G	12: 111,411,682 (GRCm39)	K84R	possibly damaging	Het
Tpgs1	A	G	10: 79,511,235 (GRCm39)	T126A	probably benign	Het
Traf3ip1	A	G	1: 91,447,834 (GRCm39)	E437G	possibly damaging	Het
Trpc4ap	C	T	2: 155,477,053 (GRCm39)	C755Y	probably damaging	Het
Tsfm	A	G	10: 126,866,547 (GRCm39)		probably benign	Het
Vmn1r23	A	T	6: 57,903,010 (GRCm39)	M256K	probably benign	Het
Zdhhc8	T	C	16: 18,044,605 (GRCm39)	D305G	probably damaging	Het
Zfp326	G	A	5: 106,054,942 (GRCm39)	R282H	probably damaging	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
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
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'- TCTGACAGGAAGTGACTGGG -3'
(R):5'- GCAAGACCTCGTTTTGTTGAG -3'

Sequencing Primer
(F):5'- CAGGAAGTGACTGGGGAGGAG -3'
(R):5'- AGATGGGGTCCAAGGTCACC -3'

Posted On

2016-05-20