Mutagenetix > Incidental Mutation

Incidental Mutation 'R4963:Tulp4'

383754

Institutional Source

Beutler Lab

Gene Symbol

Tulp4

Ensembl Gene

ENSMUSG00000034377

Gene Name

tubby like protein 4

Synonyms

2210038L17Rik, 1110057P05Rik

MMRRC Submission

042560-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.742) question?

Stock #

R4963 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

6106437-6251128 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 6198813 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 36 (E36K)

Ref Sequence

ENSEMBL: ENSMUSP00000120358 (fasta)

Gene Model

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

AlphaFold

Q9JIL5

Predicted Effect

probably damaging
Transcript: ENSMUST00000039655
AA Change: E229K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000049248
Gene: ENSMUSG00000034377
AA Change: E229K

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

noncoding transcript
Transcript: ENSMUST00000141059

Predicted Effect

probably damaging
Transcript: ENSMUST00000142030
AA Change: E36K

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

SMART Domains

Protein: ENSMUSP00000120358
Gene: ENSMUSG00000034377
AA Change: E36K

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000149756
AA Change: E36K

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000123218
Gene: ENSMUSG00000034377
AA Change: E36K

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

Meta Mutation Damage Score

0.1294

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.3%

Validation Efficiency

97% (74/76)

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530064D06Rik	A	T	17: 48,163,414	I133N	probably benign	Het
Abca15	T	C	7: 120,360,919	S642P	probably damaging	Het
Abcg5	G	T	17: 84,660,141	Y410*	probably null	Het
Anapc7	T	A	5: 122,422,606	M10K	probably damaging	Het
Ank2	G	A	3: 127,032,096	T418M	probably benign	Het
Arhgap17	T	C	7: 123,308,360	R260G	possibly damaging	Het
Atp1a3	T	C	7: 24,994,626	T381A	probably damaging	Het
Cep89	T	G	7: 35,403,152	S97A	probably benign	Het
Cyp2j11	T	C	4: 96,316,382	D309G	probably damaging	Het
Dcbld2	T	C	16: 58,465,782	I768T	probably benign	Het
Dgke	A	G	11: 89,050,802	V249A	possibly damaging	Het
Dnah9	T	C	11: 66,084,611		probably null	Het
Dnajc3	C	A	14: 118,978,173	H502N	probably benign	Het
Dsp	A	G	13: 38,197,870	T2265A	probably damaging	Het
Enpp6	A	G	8: 47,065,461	D208G	probably benign	Het
Evc	C	T	5: 37,322,049		probably null	Het
Fam98a	A	G	17: 75,538,982	S285P	probably damaging	Het
Glp2r	G	T	11: 67,757,593	Y94*	probably null	Het
Gm15293	C	T	8: 21,201,758	S52F	probably damaging	Het
Gsdmc	A	G	15: 63,804,380		probably null	Het
Gtpbp4	C	A	13: 8,985,217	D369Y	probably damaging	Het
H2-M1	A	G	17: 36,671,738	Y77H	probably benign	Het
Irx2	T	C	13: 72,632,610	V466A	possibly damaging	Het
Kcnh4	C	A	11: 100,752,253	W396L	probably damaging	Het
Kif27	T	C	13: 58,328,994	D614G	possibly damaging	Het
Kirrel2	C	A	7: 30,450,801		probably null	Het
Lcn5	A	G	2: 25,661,414	I182V	probably benign	Het
Ldb3	T	G	14: 34,566,858	S252R	probably damaging	Het
March8	G	A	6: 116,386,271		probably benign	Het
Mdn1	C	A	4: 32,756,512	Q4735K	probably benign	Het
Mfrp	A	T	9: 44,103,264	H236L	probably benign	Het
Mlph	A	G	1: 90,939,390	D378G	probably damaging	Het
Msi1	T	A	5: 115,450,885	Y320N	probably damaging	Het
Mtmr11	T	C	3: 96,163,250		probably benign	Het
Mtpap	T	C	18: 4,375,638	V6A	probably benign	Het
Nedd1	C	A	10: 92,695,031	D399Y	probably damaging	Het
Ninl	A	G	2: 150,939,909	Y234H	probably benign	Het
Nkx3-1	G	A	14: 69,190,918	G72S	probably benign	Het
Nle1	A	G	11: 82,904,937	V228A	probably benign	Het
Npy4r	T	A	14: 34,147,016	D105V	probably damaging	Het
Olfr1366	A	G	13: 21,537,982	Y8H	probably damaging	Het
Palld	C	T	8: 61,703,210	V464M	probably damaging	Het
Pclo	T	C	5: 14,669,221	V1124A	unknown	Het
Pex1	T	A	5: 3,609,924	M476K	probably benign	Het
Pkhd1l1	G	A	15: 44,504,025	S773N	probably benign	Het
Polrmt	A	G	10: 79,746,551	M1T	probably null	Het
Prmt9	A	G	8: 77,555,729	D85G	probably damaging	Het
Ptpn12	T	A	5: 21,015,708		probably null	Het
Rbm19	T	A	5: 120,141,566	M766K	probably damaging	Het
Rdh11	A	G	12: 79,188,606	V72A	probably benign	Het
Rxfp3	A	G	15: 11,036,281	V335A	probably damaging	Het
Sema6a	T	C	18: 47,298,251	K127E	possibly damaging	Het
Slc5a1	C	T	5: 33,160,782	T593I	probably benign	Het
Slco1a1	A	G	6: 141,923,099	F380L	probably benign	Het
Smc2	T	C	4: 52,450,826	S215P	probably damaging	Het
Smyd2	A	T	1: 189,882,188	V381E	probably damaging	Het
Smyd4	C	T	11: 75,382,294	S60L	probably benign	Het
Spata18	T	A	5: 73,678,993	V419E	probably damaging	Het
Terb1	A	G	8: 104,482,318	L376S	probably damaging	Het
Timd2	T	C	11: 46,682,790	E129G	possibly damaging	Het
Topbp1	C	A	9: 103,320,605	T461K	probably benign	Het
Tpp2	G	A	1: 43,992,268	R1069Q	probably damaging	Het
Ttn	A	G	2: 76,753,945	V22273A	probably damaging	Het
Uqcrfs1	A	T	13: 30,540,763	F265I	probably damaging	Het
Vmn2r107	A	T	17: 20,375,141	Q652L	probably damaging	Het
Vwf	C	T	6: 125,667,483	R2434*	probably null	Het
Wdhd1	A	G	14: 47,268,689	V256A	possibly damaging	Het
Zfp442	A	T	2: 150,408,495	C439S	probably damaging	Het
Zfp709	A	G	8: 71,889,788	T354A	probably benign	Het
Zswim2	A	T	2: 83,925,110	I149N	probably damaging	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
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
R7068:Tulp4	UTSW	17	6185289	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'- TTACTCCGCTTGTTCAAGGG -3'
(R):5'- GCTAAGCAGCTAAGTCCCAC -3'

Sequencing Primer
(F):5'- TTGTTCAAGGGCCCTGC -3'
(R):5'- TGGGAAGACCAGCTTTCGG -3'

Posted On

2016-04-27