Mutagenetix > Incidental Mutations

Incidental Mutation 'R6294:Tulp4'

508640

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?

Probably essential (E-score: 0.754) question?

Stock #

R6294 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

6106437-6251128 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 6201819 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 282 (R282C)

Ref Sequence

ENSEMBL: ENSMUSP00000049248 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000039655
AA Change: R282C

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

SMART Domains

Protein: ENSMUSP00000049248
Gene: ENSMUSG00000034377
AA Change: R282C

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: R89C

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000120358
Gene: ENSMUSG00000034377
AA Change: R89C

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000149756
AA Change: R89C

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000123218
Gene: ENSMUSG00000034377
AA Change: R89C

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

0.1288

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.2%

Validation Efficiency

99% (71/72)

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	T	6: 121,654,481	H579L	probably benign	Het
Aldh2	G	A	5: 121,572,816	Q8*	probably null	Het
Ankdd1a	G	T	9: 65,520,164	H10Q	probably benign	Het
Arpp21	A	G	9: 112,127,452	F453L	probably damaging	Het
Birc6	C	A	17: 74,689,257	D4461E	probably benign	Het
Cacna1b	A	T	2: 24,719,057	S411T	possibly damaging	Het
Camk2g	A	G	14: 20,764,949	I203T	probably damaging	Het
Cat	A	T	2: 103,460,295	C425S	probably benign	Het
Ccdc34	A	G	2: 110,018,151	D95G	probably benign	Het
Clca4b	T	C	3: 144,925,185	S305G	probably null	Het
Cul7	T	C	17: 46,663,148	I1453T	probably benign	Het
Dlg1	T	A	16: 31,838,124	I612N	probably damaging	Het
Dync2h1	T	G	9: 7,084,986	K561T	probably benign	Het
Erbin	T	C	13: 103,857,056	T359A	probably benign	Het
Far2	T	A	6: 148,157,482	L222Q	probably damaging	Het
Fbxw17	A	G	13: 50,423,803	E114G	probably benign	Het
Fryl	A	T	5: 73,191,759		probably benign	Het
Ggn	A	G	7: 29,173,848	D666G	possibly damaging	Het
Hal	G	A	10: 93,514,143		probably null	Het
Htt	A	G	5: 34,821,826	D851G	probably benign	Het
Ighv14-2	A	T	12: 113,994,598	D74E	probably benign	Het
Igkv5-43	G	A	6: 69,823,442	S87L	probably damaging	Het
Klhl29	A	T	12: 5,083,995	F720I	probably damaging	Het
Klk1b8	T	A	7: 43,952,772	Y43N	probably damaging	Het
Krtap6-3	T	A	16: 89,084,101	Y7N	unknown	Het
Lama4	T	A	10: 39,075,470	F1070L	probably damaging	Het
Map4	A	G	9: 110,002,746	E98G	possibly damaging	Het
Mbtd1	C	T	11: 93,932,232	H493Y	possibly damaging	Het
Mki67	A	G	7: 135,704,590	M581T	probably benign	Het
Mtss1l	T	A	8: 110,727,328	N43K	possibly damaging	Het
Mylk3	T	A	8: 85,350,383	I475F	probably damaging	Het
Nat14	C	T	7: 4,924,074	R82*	probably null	Het
Nckap1	T	C	2: 80,541,514	N324S	probably benign	Het
Nemp1	C	T	10: 127,694,522	T281M	possibly damaging	Het
Nrg3	A	T	14: 38,397,239	H425Q	probably benign	Het
Olfr101	T	A	17: 37,299,553	T290S	probably benign	Het
Olfr1318	A	G	2: 112,156,019	I23V	probably benign	Het
Olfr1487	T	C	19: 13,619,366	V25A	probably benign	Het
Olfr584	A	T	7: 103,085,667	I45F	probably benign	Het
Olfr622	A	G	7: 103,639,591	M183T	probably damaging	Het
Olfr95	T	C	17: 37,211,626	T76A	probably benign	Het
Omd	T	A	13: 49,589,991	N172K	probably damaging	Het
Orc1	T	C	4: 108,590,670	I38T	probably benign	Het
Oxct1	A	G	15: 4,142,822	T457A	possibly damaging	Het
Pcdh17	A	T	14: 84,477,668	K924N	probably benign	Het
Pkhd1l1	A	T	15: 44,570,028	I3435F	probably damaging	Het
Psg20	C	A	7: 18,682,679	V171F	probably damaging	Het
Rab11fip2	A	T	19: 59,937,099	S87T	probably damaging	Het
Rabgap1l	T	C	1: 160,231,849	T237A	probably benign	Het
Rasgrp1	A	T	2: 117,291,792	Y372*	probably null	Het
Rell1	G	T	5: 63,939,705		probably benign	Het
Rps14	A	G	18: 60,776,961	K61E	possibly damaging	Het
Rtl6	A	G	15: 84,557,120	V25A	possibly damaging	Het
Ryr2	G	T	13: 11,879,496	S185R	probably damaging	Het
Slc10a2	C	T	8: 5,091,621		probably null	Het
Slc14a1	T	A	18: 78,110,058		probably null	Het
Smad2	A	T	18: 76,289,162	N215I	probably benign	Het
Smchd1	A	T	17: 71,370,927	N1473K	probably benign	Het
Spag9	A	G	11: 94,093,485		probably null	Het
Stk31	A	C	6: 49,417,344	R213S	probably benign	Het
Tmod4	A	T	3: 95,128,306	Q255L	probably benign	Het
Tnpo1	T	A	13: 98,890,774	Y3F	probably benign	Het
Tom1l1	A	C	11: 90,661,761	Y206*	probably null	Het
Tulp2	A	G	7: 45,514,692	K36E	probably damaging	Het
Unc5b	A	T	10: 60,778,331	N246K	possibly damaging	Het
Ush2a	C	G	1: 188,536,370	S1674R	possibly damaging	Het
Vmn1r224	T	C	17: 20,419,821	I220T	probably benign	Het
Vmn1r7	G	C	6: 57,024,419	N285K	probably benign	Het
Vmn2r83	C	T	10: 79,477,854	P99S	probably damaging	Het
Zbtb38	A	G	9: 96,687,229	F601L	probably benign	Het
Zc3h3	A	T	15: 75,809,568	S555T	possibly 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
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
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
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'- TAGACATGGGCCAGGTTGTG -3'
(R):5'- ACTCAGCTTGGGTATCAGGAATCC -3'

Sequencing Primer
(F):5'- CCAGGTTGTGCTCCTTGGC -3'
(R):5'- GCAGCCATAGACTTGAGCTG -3'

Posted On

2018-03-15