Mutagenetix > Incidental Mutation

Incidental Mutation 'R0711:Tulp4'

218652

Institutional Source

Beutler Lab

Gene Symbol

Tulp4

Ensembl Gene

ENSMUSG00000034377

Gene Name

tubby like protein 4

Synonyms

2210038L17Rik, 1110057P05Rik

MMRRC Submission

038894-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.677) question?

Stock #

R0711 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

6156528-6290912 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 6189387 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 70 (T70A)

Ref Sequence

ENSEMBL: ENSMUSP00000049248 (fasta)

Gene Model

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

AlphaFold

Q9JIL5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000039655
AA Change: T70A

PolyPhen 2 Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000049248
Gene: ENSMUSG00000034377
AA Change: T70A

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 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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149838

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152672

Meta Mutation Damage Score

0.0724

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 91.4%

Validation Efficiency

100% (91/91)

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	A	3: 137,773,986 (GRCm39)	D1058E	probably damaging	Het
4933405L10Rik	A	T	8: 106,435,563 (GRCm39)		probably null	Het
Adamtsl3	T	A	7: 82,114,907 (GRCm39)		probably benign	Het
Afdn	C	T	17: 14,072,698 (GRCm39)	P874S	probably damaging	Het
Ankrd6	G	A	4: 32,815,326 (GRCm39)	A391V	probably damaging	Het
Arhgef28	T	G	13: 98,067,762 (GRCm39)	T1388P	probably damaging	Het
Asxl3	G	T	18: 22,657,508 (GRCm39)	M1839I	probably benign	Het
BC005537	T	C	13: 24,989,923 (GRCm39)	F129L	probably damaging	Het
Celf2	A	G	2: 6,726,226 (GRCm39)		probably null	Het
Chid1	C	T	7: 141,076,590 (GRCm39)	V325I	probably benign	Het
Cnn3	T	A	3: 121,243,633 (GRCm39)	D31E	probably benign	Het
Col12a1	G	A	9: 79,559,317 (GRCm39)	P1857L	probably damaging	Het
Cpeb1	T	A	7: 81,001,618 (GRCm39)	R430W	probably benign	Het
Daw1	T	C	1: 83,169,059 (GRCm39)		probably benign	Het
Dcaf13	A	G	15: 39,001,484 (GRCm39)	Y264C	probably damaging	Het
Dnah6	T	C	6: 73,064,585 (GRCm39)	I2666V	probably damaging	Het
Dnai2	A	C	11: 114,645,158 (GRCm39)	D531A	probably benign	Het
Dock10	A	T	1: 80,501,692 (GRCm39)	F1833I	probably damaging	Het
Efhd2	C	T	4: 141,587,183 (GRCm39)	A200T	probably damaging	Het
Epb41l5	T	A	1: 119,551,641 (GRCm39)		probably benign	Het
Ermp1	A	G	19: 29,608,788 (GRCm39)	Y164H	possibly damaging	Het
Gkn2	T	C	6: 87,350,401 (GRCm39)		probably benign	Het
Golgb1	A	T	16: 36,739,152 (GRCm39)	Q2497L	probably damaging	Het
Gzme	A	T	14: 56,355,196 (GRCm39)	M245K	probably damaging	Het
Iars2	A	T	1: 185,054,585 (GRCm39)		probably benign	Het
Icosl	T	A	10: 77,909,775 (GRCm39)	V240D	probably damaging	Het
Igsf3	T	C	3: 101,334,709 (GRCm39)	M262T	probably benign	Het
Ing3	G	T	6: 21,971,236 (GRCm39)	E336*	probably null	Het
Kat2a	A	T	11: 100,597,297 (GRCm39)	V625E	probably damaging	Het
Ksr1	A	G	11: 78,929,073 (GRCm39)		probably benign	Het
Lypd8	A	T	11: 58,277,583 (GRCm39)	M122L	probably benign	Het
Mdfi	A	T	17: 48,143,855 (GRCm39)		probably benign	Het
Med13	A	G	11: 86,192,179 (GRCm39)		probably benign	Het
Msh6	C	T	17: 88,294,112 (GRCm39)	R956C	probably damaging	Het
Myo15b	A	G	11: 115,774,664 (GRCm39)	E670G	probably damaging	Het
Myo1d	A	G	11: 80,375,158 (GRCm39)	L972P	probably damaging	Het
Or4s2b	A	G	2: 88,509,018 (GRCm39)	D266G	probably damaging	Het
Or51ai2	G	A	7: 103,587,024 (GRCm39)	A146T	probably benign	Het
Or7g12	T	A	9: 18,899,447 (GRCm39)	N54K	probably benign	Het
Pde8b	C	G	13: 95,244,325 (GRCm39)	S143T	possibly damaging	Het
Pias4	G	T	10: 80,993,364 (GRCm39)		probably benign	Het
Prkca	A	G	11: 107,872,480 (GRCm39)	Y427H	probably benign	Het
Psg25	G	A	7: 18,263,485 (GRCm39)	Q113*	probably null	Het
Rab3gap2	T	A	1: 184,982,123 (GRCm39)	S392T	probably damaging	Het
Scrib	A	G	15: 75,938,756 (GRCm39)		probably benign	Het
Sdk2	A	G	11: 113,793,970 (GRCm39)		probably benign	Het
Serpinb1c	T	A	13: 33,070,266 (GRCm39)		probably benign	Het
Serpinb9f	T	A	13: 33,511,904 (GRCm39)	W136R	probably damaging	Het
Skic3	C	T	13: 76,331,010 (GRCm39)	P1480L	probably damaging	Het
Skint10	C	A	4: 112,573,102 (GRCm39)		probably benign	Het
Slc25a13	T	C	6: 6,117,128 (GRCm39)	T196A	probably damaging	Het
Slc26a5	T	C	5: 22,052,230 (GRCm39)	H33R	probably damaging	Het
Slc27a6	T	C	18: 58,731,829 (GRCm39)		probably benign	Het
Slitrk6	A	T	14: 110,987,251 (GRCm39)	Y819N	probably damaging	Het
Spata46	C	T	1: 170,139,603 (GRCm39)	Q201*	probably null	Het
Sptbn1	A	T	11: 30,064,739 (GRCm39)	V1920E	probably damaging	Het
Taf6l	A	G	19: 8,755,881 (GRCm39)	F256L	probably benign	Het
Tmco3	T	A	8: 13,342,039 (GRCm39)	N104K	probably damaging	Het
Tmem200c	A	G	17: 69,149,249 (GRCm39)	T611A	probably damaging	Het
Tmem202	T	G	9: 59,432,655 (GRCm39)	Y24S	probably damaging	Het
Tpp1	A	G	7: 105,398,626 (GRCm39)	L230P	probably damaging	Het
Trim56	C	T	5: 137,141,846 (GRCm39)	E557K	probably benign	Het
Trrap	C	T	5: 144,790,309 (GRCm39)	L3590F	probably damaging	Het
Vcp	G	C	4: 42,986,201 (GRCm39)	A297G	probably benign	Het
Vwf	T	A	6: 125,603,234 (GRCm39)	H861Q	probably benign	Het
Wdr64	T	C	1: 175,599,751 (GRCm39)	I536T	probably benign	Het
Zfp850	T	C	7: 27,689,698 (GRCm39)	N170S	probably benign	Het
Zfp87	G	A	13: 74,524,544 (GRCm39)		probably benign	Het

Other mutations in Tulp4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00428:Tulp4	APN	17	6,189,351 (GRCm39)	missense	probably damaging	0.97
IGL02503:Tulp4	APN	17	6,263,666 (GRCm39)	missense	probably damaging	0.99
IGL03012:Tulp4	APN	17	6,263,654 (GRCm39)	splice site	probably benign
IGL03219:Tulp4	APN	17	6,189,285 (GRCm39)	missense	probably damaging	1.00
tuba_mirum	UTSW	17	6,252,094 (GRCm39)	missense	probably damaging	1.00
R0066:Tulp4	UTSW	17	6,252,008 (GRCm39)	missense	probably damaging	0.99
R0066:Tulp4	UTSW	17	6,252,008 (GRCm39)	missense	probably damaging	0.99
R1718:Tulp4	UTSW	17	6,272,715 (GRCm39)	missense	probably benign	0.39
R1736:Tulp4	UTSW	17	6,283,490 (GRCm39)	missense	possibly damaging	0.66
R1775:Tulp4	UTSW	17	6,189,321 (GRCm39)	missense	probably damaging	0.96
R1793:Tulp4	UTSW	17	6,189,387 (GRCm39)	missense	possibly damaging	0.94
R3160:Tulp4	UTSW	17	6,248,983 (GRCm39)	start codon destroyed	probably null	0.94
R3162:Tulp4	UTSW	17	6,248,983 (GRCm39)	start codon destroyed	probably null	0.94
R3431:Tulp4	UTSW	17	6,257,239 (GRCm39)	missense	probably benign	0.03
R4081:Tulp4	UTSW	17	6,282,055 (GRCm39)	missense	probably damaging	1.00
R4082:Tulp4	UTSW	17	6,282,055 (GRCm39)	missense	probably damaging	1.00
R4610:Tulp4	UTSW	17	6,249,108 (GRCm39)	missense	probably damaging	0.96
R4963:Tulp4	UTSW	17	6,249,088 (GRCm39)	missense	probably damaging	1.00
R4966:Tulp4	UTSW	17	6,249,088 (GRCm39)	missense	probably damaging	1.00
R5386:Tulp4	UTSW	17	6,286,568 (GRCm39)	missense	probably damaging	1.00
R6019:Tulp4	UTSW	17	6,283,490 (GRCm39)	missense	possibly damaging	0.66
R6275:Tulp4	UTSW	17	6,249,011 (GRCm39)	missense	probably damaging	1.00
R6294:Tulp4	UTSW	17	6,252,094 (GRCm39)	missense	probably damaging	1.00
R6587:Tulp4	UTSW	17	6,282,146 (GRCm39)	missense	possibly damaging	0.62
R6680:Tulp4	UTSW	17	6,189,312 (GRCm39)	missense	probably damaging	1.00
R7030:Tulp4	UTSW	17	6,264,941 (GRCm39)	missense	probably damaging	1.00
R7068:Tulp4	UTSW	17	6,235,564 (GRCm39)	missense	probably damaging	1.00
R7109:Tulp4	UTSW	17	6,282,055 (GRCm39)	missense	probably damaging	1.00
R7110:Tulp4	UTSW	17	6,282,055 (GRCm39)	missense	probably damaging	1.00
R7229:Tulp4	UTSW	17	6,282,055 (GRCm39)	missense	probably damaging	1.00
R7230:Tulp4	UTSW	17	6,282,055 (GRCm39)	missense	probably damaging	1.00
R7231:Tulp4	UTSW	17	6,286,510 (GRCm39)	missense	probably benign	0.03
R7438:Tulp4	UTSW	17	6,248,983 (GRCm39)	missense	probably benign	0.42
R7750:Tulp4	UTSW	17	6,283,399 (GRCm39)	missense	probably damaging	1.00
R8312:Tulp4	UTSW	17	6,257,333 (GRCm39)	critical splice donor site	probably null
R8772:Tulp4	UTSW	17	6,227,168 (GRCm39)	missense	probably damaging	1.00
R8821:Tulp4	UTSW	17	6,189,409 (GRCm39)	missense	probably damaging	0.99
R8849:Tulp4	UTSW	17	6,272,656 (GRCm39)	missense	probably benign	0.13
R9027:Tulp4	UTSW	17	6,283,472 (GRCm39)	missense	possibly damaging	0.88
R9448:Tulp4	UTSW	17	6,248,948 (GRCm39)	missense	possibly damaging	0.91
R9681:Tulp4	UTSW	17	6,274,500 (GRCm39)	missense	possibly damaging	0.86
R9748:Tulp4	UTSW	17	6,291,480 (GRCm39)	critical splice donor site	probably null
X0067:Tulp4	UTSW	17	6,257,198 (GRCm39)	missense	possibly damaging	0.93
Z1177:Tulp4	UTSW	17	6,274,480 (GRCm39)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- TATGCAGCAGTGGAACATGGGC -3'
(R):5'- CTTTCTTGGCAGCACACAGGAGAC -3'

Sequencing Primer
(F):5'- TGTGCTTTGCAGCGATTCC -3'
(R):5'- GACAGAATTTACAGTACCAAGTCTC -3'

Posted On

2014-08-18