Mutagenetix > Incidental Mutation

Incidental Mutation 'R7068:Tulp4'

548709

Institutional Source

Beutler Lab

Gene Symbol

Tulp4

Ensembl Gene

ENSMUSG00000034377

Gene Name

tubby like protein 4

Synonyms

2210038L17Rik, 1110057P05Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.643) question?

Stock #

R7068 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

6106437-6251128 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 6185289 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 178 (D178E)

Ref Sequence

ENSEMBL: ENSMUSP00000049248 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039655] [ENSMUST00000142030] [ENSMUST00000149756]

AlphaFold

Q9JIL5

Predicted Effect

probably damaging
Transcript: ENSMUST00000039655
AA Change: D178E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000049248
Gene: ENSMUSG00000034377
AA Change: D178E

Domain	Start	End	E-Value	Type
WD40	71	110	2.49e-1	SMART
Blast:WD40	113	153	9e-21	BLAST
WD40	159	195	1.84e1	SMART
low complexity region	226	238	N/A	INTRINSIC
Blast:WD40	275	306	8e-8	BLAST
Blast:WD40	330	371	1e-14	BLAST
SOCS_box	374	411	2.31e-1	SMART
SCOP:d1c8za_	418	505	1e-18	SMART
low complexity region	509	518	N/A	INTRINSIC
low complexity region	528	547	N/A	INTRINSIC
SCOP:d1c8za_	594	669	8e-12	SMART
low complexity region	770	789	N/A	INTRINSIC
low complexity region	837	864	N/A	INTRINSIC
low complexity region	1021	1026	N/A	INTRINSIC
low complexity region	1041	1056	N/A	INTRINSIC
low complexity region	1174	1181	N/A	INTRINSIC
low complexity region	1188	1197	N/A	INTRINSIC
Pfam:Tub	1346	1543	2e-27	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000142030

SMART Domains

Protein: ENSMUSP00000120358
Gene: ENSMUSG00000034377

Domain	Start	End	E-Value	Type
low complexity region	33	45	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000149756

SMART Domains

Protein: ENSMUSP00000123218
Gene: ENSMUSG00000034377

Domain	Start	End	E-Value	Type
low complexity region	33	45	N/A	INTRINSIC
Blast:WD40	82	113	6e-8	BLAST
Blast:WD40	137	178	1e-14	BLAST
SOCS_box	181	218	2.31e-1	SMART
SCOP:d1c8za_	225	312	2e-18	SMART
low complexity region	316	325	N/A	INTRINSIC
low complexity region	335	354	N/A	INTRINSIC
SCOP:d1c8za_	401	476	9e-12	SMART
low complexity region	577	596	N/A	INTRINSIC
low complexity region	644	671	N/A	INTRINSIC
low complexity region	828	833	N/A	INTRINSIC
low complexity region	848	863	N/A	INTRINSIC
low complexity region	981	988	N/A	INTRINSIC
low complexity region	995	1004	N/A	INTRINSIC
coiled coil region	1187	1215	N/A	INTRINSIC
Pfam:Tub	1224	1350	5.3e-26	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm1	A	G	7: 119,622,580	H24R	probably benign	Het
Ago2	A	T	15: 73,146,450	F46L	probably damaging	Het
Amd1	A	G	10: 40,290,512	F123L	probably benign	Het
Arhgef10	T	C	8: 14,958,639	F546L	probably damaging	Het
Asic2	G	A	11: 81,152,255	H71Y	probably benign	Het
Asphd1	A	G	7: 126,948,678	V151A	probably benign	Het
Best3	T	C	10: 116,988,638	V3A	probably damaging	Het
C4b	A	G	17: 34,733,477	L1196P	probably damaging	Het
Cd22	A	G	7: 30,878,079	V3A	probably benign	Het
Cdkl3	T	C	11: 52,011,327		probably null	Het
Clcnka	A	T	4: 141,387,110	V631E	probably damaging	Het
Cmya5	A	G	13: 93,092,697	V1961A	possibly damaging	Het
Dnah14	A	G	1: 181,769,790	E3559G	probably benign	Het
Emsy	A	T	7: 98,610,761	D39E	probably benign	Het
Fam126a	A	G	5: 23,964,795	S519P	possibly damaging	Het
Fbxl16	G	T	17: 25,819,511	V477F	possibly damaging	Het
Flt1	A	T	5: 147,673,634	I393N	probably damaging	Het
Gabra4	A	T	5: 71,572,059	N433K	probably benign	Het
Gatad1	T	C	5: 3,643,540	R210G	probably benign	Het
Ghsr	T	A	3: 27,371,837	V14D	probably benign	Het
Glb1l	A	G	1: 75,202,737	Y183H	probably damaging	Het
Ighv3-4	T	C	12: 114,253,654	T106A	probably damaging	Het
Ik	T	G	18: 36,755,465	F439V	possibly damaging	Het
Itih5	T	C	2: 10,249,304	S789P	probably damaging	Het
Kcnj8	T	C	6: 142,566,239	D214G	probably damaging	Het
Kdm5a	C	A	6: 120,430,215	H1464N	probably benign	Het
Klb	A	T	5: 65,379,340	Y671F	probably damaging	Het
Kremen2	C	A	17: 23,741,885	R421L	possibly damaging	Het
Mroh9	T	A	1: 163,039,181	D662V	probably damaging	Het
Mtmr12	T	G	15: 12,257,670	M278R	probably null	Het
Ndufa8	T	C	2: 36,044,435	M44V	possibly damaging	Het
Nedd4l	A	T	18: 65,205,651	R695S	probably damaging	Het
Nuf2	G	A	1: 169,522,419	P97S	probably damaging	Het
Olfr1018	T	C	2: 85,823,052	V27A	probably benign	Het
Olfr206	T	C	16: 59,345,204	T166A	possibly damaging	Het
Olfr310	A	C	7: 86,269,537	L84R	probably damaging	Het
P4ha2	A	G	11: 54,110,994	T33A	probably benign	Het
Parp1	A	G	1: 180,588,668	H544R	probably damaging	Het
Plec	A	G	15: 76,177,769	L2678P	probably damaging	Het
Rad1	T	A	15: 10,490,293	Y85*	probably null	Het
Sema6d	A	G	2: 124,657,821	I309V	probably benign	Het
Skint2	T	C	4: 112,624,351	V137A	probably damaging	Het
Slc23a3	T	C	1: 75,133,233	N130S	probably benign	Het
Slc35f1	T	C	10: 53,062,500	F176S	probably damaging	Het
Slc44a2	T	A	9: 21,320,848	Y10N	probably benign	Het
Smarcc1	A	G	9: 110,185,884	T506A	probably damaging	Het
Smchd1	A	T	17: 71,387,092	S1219R	probably benign	Het
Smco1	A	G	16: 32,274,111	N200S	probably benign	Het
Srcap	A	G	7: 127,541,943	T1571A	probably benign	Het
Strip2	C	T	6: 29,932,208	T459I	probably benign	Het
Tarbp1	C	T	8: 126,427,034	A1560T	probably damaging	Het
Tcl1b1	T	A	12: 105,159,693		probably benign	Het
Tdrd5	T	C	1: 156,284,271	E436G	probably damaging	Het
Trim31	T	A	17: 36,898,516	C55S	probably damaging	Het
Tsr1	G	T	11: 74,903,919	E467*	probably null	Het
Vmn1r30	A	G	6: 58,435,010	V279A	possibly damaging	Het
Vmn2r98	A	G	17: 19,065,313	R132G	probably benign	Het

Other mutations in Tulp4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00428:Tulp4	APN	17	6139076	missense	probably damaging	0.97
IGL02503:Tulp4	APN	17	6213391	missense	probably damaging	0.99
IGL03012:Tulp4	APN	17	6213379	splice site	probably benign
IGL03219:Tulp4	APN	17	6139010	missense	probably damaging	1.00
tuba_mirum	UTSW	17	6201819	missense	probably damaging	1.00
R0066:Tulp4	UTSW	17	6201733	missense	probably damaging	0.99
R0066:Tulp4	UTSW	17	6201733	missense	probably damaging	0.99
R0711:Tulp4	UTSW	17	6139112	missense	possibly damaging	0.94
R1718:Tulp4	UTSW	17	6222440	missense	probably benign	0.39
R1736:Tulp4	UTSW	17	6233215	missense	possibly damaging	0.66
R1775:Tulp4	UTSW	17	6139046	missense	probably damaging	0.96
R1793:Tulp4	UTSW	17	6139112	missense	possibly damaging	0.94
R3160:Tulp4	UTSW	17	6198708	start codon destroyed	probably null	0.94
R3162:Tulp4	UTSW	17	6198708	start codon destroyed	probably null	0.94
R3431:Tulp4	UTSW	17	6206964	missense	probably benign	0.03
R4081:Tulp4	UTSW	17	6231780	missense	probably damaging	1.00
R4082:Tulp4	UTSW	17	6231780	missense	probably damaging	1.00
R4610:Tulp4	UTSW	17	6198833	missense	probably damaging	0.96
R4963:Tulp4	UTSW	17	6198813	missense	probably damaging	1.00
R4966:Tulp4	UTSW	17	6198813	missense	probably damaging	1.00
R5386:Tulp4	UTSW	17	6236293	missense	probably damaging	1.00
R6019:Tulp4	UTSW	17	6233215	missense	possibly damaging	0.66
R6275:Tulp4	UTSW	17	6198736	missense	probably damaging	1.00
R6294:Tulp4	UTSW	17	6201819	missense	probably damaging	1.00
R6587:Tulp4	UTSW	17	6231871	missense	possibly damaging	0.62
R6680:Tulp4	UTSW	17	6139037	missense	probably damaging	1.00
R7030:Tulp4	UTSW	17	6214666	missense	probably damaging	1.00
R7109:Tulp4	UTSW	17	6231780	missense	probably damaging	1.00
R7110:Tulp4	UTSW	17	6231780	missense	probably damaging	1.00
R7229:Tulp4	UTSW	17	6231780	missense	probably damaging	1.00
R7230:Tulp4	UTSW	17	6231780	missense	probably damaging	1.00
R7231:Tulp4	UTSW	17	6236235	missense	probably benign	0.03
R7438:Tulp4	UTSW	17	6198708	missense	probably benign	0.42
R7750:Tulp4	UTSW	17	6233124	missense	probably damaging	1.00
R8312:Tulp4	UTSW	17	6207058	critical splice donor site	probably null
R8772:Tulp4	UTSW	17	6176893	missense	probably damaging	1.00
R8821:Tulp4	UTSW	17	6139134	missense	probably damaging	0.99
R8849:Tulp4	UTSW	17	6222381	missense	probably benign	0.13
R9027:Tulp4	UTSW	17	6233197	missense	possibly damaging	0.88
R9448:Tulp4	UTSW	17	6198673	missense	possibly damaging	0.91
R9681:Tulp4	UTSW	17	6224225	missense	possibly damaging	0.86
R9748:Tulp4	UTSW	17	6241205	critical splice donor site	probably null
X0067:Tulp4	UTSW	17	6206923	missense	possibly damaging	0.93
Z1177:Tulp4	UTSW	17	6224205	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- AAGCACTATACCTCGGCTTTG -3'
(R):5'- AATTGGAACTCAGGGCTCTGTG -3'

Sequencing Primer
(F):5'- CCTCGGCTTTGATAACAATGG -3'
(R):5'- AACTCAGGGCTCTGTGCATAGTC -3'

Posted On

2019-05-13