Mutagenetix > Incidental Mutation

Incidental Mutation 'R7542:Tulp1'

583980

Institutional Source

Beutler Lab

Gene Symbol

Tulp1

Ensembl Gene

ENSMUSG00000037446

Gene Name

tubby like protein 1

Synonyms

Tulp1l

MMRRC Submission

045614-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.563) question?

Stock #

R7542 (G1)

Quality Score

215.009

Status

Not validated

Chromosome

Chromosomal Location

28570489-28584190 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 28582729 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 140 (K140E)

Ref Sequence

ENSEMBL: ENSMUSP00000049070 (fasta)

Gene Model

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

AlphaFold

Q9Z273

Predicted Effect

probably benign
Transcript: ENSMUST00000041819
AA Change: K140E

PolyPhen 2 Score 0.259 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000049070
Gene: ENSMUSG00000037446
AA Change: K140E

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: K140E

PolyPhen 2 Score 0.338 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000110442
Gene: ENSMUSG00000037446
AA Change: K140E

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam24	A	T	8: 41,133,848 (GRCm39)	T439S	possibly damaging	Het
Akap11	A	T	14: 78,747,732 (GRCm39)	S1552T		Het
Akap6	A	G	12: 53,116,017 (GRCm39)	E1040G	probably damaging	Het
Alms1	A	T	6: 85,606,344 (GRCm39)	T2196S	possibly damaging	Het
Alox12e	T	C	11: 70,212,582 (GRCm39)	Q89R	possibly damaging	Het
AW551984	T	A	9: 39,505,927 (GRCm39)	E423D	possibly damaging	Het
Ccpg1	T	A	9: 72,919,741 (GRCm39)	V452D	probably damaging	Het
Cdk5r1	T	C	11: 80,369,190 (GRCm39)	F286L	probably damaging	Het
Cgref1	A	T	5: 31,090,937 (GRCm39)	N292K	probably damaging	Het
Clgn	A	T	8: 84,122,174 (GRCm39)	S32C	possibly damaging	Het
Csk	C	A	9: 57,536,283 (GRCm39)		probably null	Het
Dchs2	A	G	3: 83,176,591 (GRCm39)	T850A	probably benign	Het
Defb2	T	C	8: 22,333,360 (GRCm39)	V45A	probably benign	Het
Disp2	A	G	2: 118,621,599 (GRCm39)	Q777R	probably damaging	Het
Dll1	C	T	17: 15,590,609 (GRCm39)	C369Y	probably damaging	Het
Dnah7c	A	G	1: 46,823,658 (GRCm39)	I3766V	probably benign	Het
Elapor1	A	T	3: 108,365,543 (GRCm39)		probably benign	Het
Fam53a	A	G	5: 33,764,815 (GRCm39)	M297T	probably damaging	Het
Fat4	A	G	3: 39,035,504 (GRCm39)	D3052G	possibly damaging	Het
Fat4	A	T	3: 39,035,770 (GRCm39)	I3141F	possibly damaging	Het
Fbxw10	T	C	11: 62,741,422 (GRCm39)	V180A	probably benign	Het
Frem2	A	T	3: 53,560,000 (GRCm39)	D1502E	probably damaging	Het
Fsip2	A	T	2: 82,815,196 (GRCm39)	N3643I	possibly damaging	Het
Furin	A	G	7: 80,043,207 (GRCm39)	S335P	probably damaging	Het
Glb1l3	C	A	9: 26,729,491 (GRCm39)	A659S	possibly damaging	Het
Gm8011	A	T	14: 42,288,741 (GRCm39)	R175*	probably null	Het
Gna15	A	G	10: 81,350,136 (GRCm39)	S89P	probably damaging	Het
Grm2	A	T	9: 106,528,368 (GRCm39)	L172Q	probably damaging	Het
Iqcn	A	G	8: 71,161,415 (GRCm39)	T203A	possibly damaging	Het
Kcnc3	A	G	7: 44,245,138 (GRCm39)	D476G	possibly damaging	Het
Kcnh6	A	G	11: 105,905,387 (GRCm39)	T216A	possibly damaging	Het
Kdm2a	G	A	19: 4,383,858 (GRCm39)		probably benign	Het
Lrrc9	T	C	12: 72,553,094 (GRCm39)	I1332T	probably damaging	Het
Maea	T	C	5: 33,529,007 (GRCm39)	C317R	probably damaging	Het
Manba	T	C	3: 135,272,354 (GRCm39)	V707A	probably benign	Het
Mcph1	C	T	8: 18,681,705 (GRCm39)	R281C	probably benign	Het
Med25	A	T	7: 44,541,215 (GRCm39)	D99E	probably damaging	Het
Megf10	C	A	18: 57,322,642 (GRCm39)	D62E	probably benign	Het
Minar1	T	A	9: 89,483,964 (GRCm39)	T478S	probably damaging	Het
Myod1	A	T	7: 46,026,097 (GRCm39)	M1L	probably benign	Het
Nav3	A	T	10: 109,659,394 (GRCm39)	M741K	possibly damaging	Het
Odf2l	A	C	3: 144,859,197 (GRCm39)	K618T	probably damaging	Het
Or4c107	A	T	2: 88,789,119 (GRCm39)	E103V	probably benign	Het
Pcdha2	G	A	18: 37,073,142 (GRCm39)	G258R	probably damaging	Het
Pcdha3	G	A	18: 37,080,784 (GRCm39)	A509T	possibly damaging	Het
Pde4dip	A	G	3: 97,673,971 (GRCm39)	V315A	possibly damaging	Het
Prim1	T	C	10: 127,853,903 (GRCm39)	V107A	probably damaging	Het
Pxdc1	A	G	13: 34,822,146 (GRCm39)		probably null	Het
Rab7b	C	T	1: 131,639,379 (GRCm39)	H182Y	probably benign	Het
Reln	C	A	5: 22,160,179 (GRCm39)	G2130V	probably damaging	Het
Retreg1	T	A	15: 25,941,296 (GRCm39)	M1K	probably null	Het
Rras	G	A	7: 44,669,766 (GRCm39)	R94Q	probably damaging	Het
Rundc3a	T	A	11: 102,290,871 (GRCm39)	L318Q	probably benign	Het
Scgb2b18	A	T	7: 32,872,747 (GRCm39)		probably null	Het
Setd1b	A	T	5: 123,286,510 (GRCm39)	M519L	unknown	Het
Tep1	G	A	14: 51,099,948 (GRCm39)	Q426*	probably null	Het
Tesk1	G	T	4: 43,445,941 (GRCm39)	M291I	probably benign	Het
Tgs1	A	G	4: 3,595,439 (GRCm39)	D536G	probably benign	Het
Thbs1	C	T	2: 117,951,655 (GRCm39)	T825M	probably damaging	Het
Tmem59l	T	C	8: 70,937,814 (GRCm39)	N189D	possibly damaging	Het
Trim30c	A	T	7: 104,031,425 (GRCm39)	D463E	possibly damaging	Het
Trpc4	A	G	3: 54,223,075 (GRCm39)	Y706C	probably damaging	Het
Ttc13	A	T	8: 125,401,842 (GRCm39)		probably null	Het
Urb2	A	G	8: 124,755,327 (GRCm39)	I345V	probably benign	Het
Vmn2r43	T	C	7: 8,258,488 (GRCm39)	M242V	probably benign	Het
Zcwpw1	T	C	5: 137,817,785 (GRCm39)	V509A	probably benign	Het
Zfp202	T	C	9: 40,122,443 (GRCm39)	C402R	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
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
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'- CTTCACAAAGTCGAAGGTGATGG -3'
(R):5'- CACAGGTAGACAGACGGATC -3'

Sequencing Primer
(F):5'- GGCAACCTTGGGATCCC -3'
(R):5'- CCTGAGCAGGGTGCCTC -3'

Posted On

2019-10-17