Mutagenetix > Incidental Mutation

Incidental Mutation 'R1718:Tulp4'

191232

Institutional Source

Beutler Lab

Gene Symbol

Tulp4

Ensembl Gene

ENSMUSG00000034377

Gene Name

tubby like protein 4

Synonyms

2210038L17Rik, 1110057P05Rik

MMRRC Submission

039751-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.742) question?

Stock #

R1718 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

6106437-6251128 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 6222440 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 590 (I590V)

Ref Sequence

ENSEMBL: ENSMUSP00000049248 (fasta)

Gene Model

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

AlphaFold

Q9JIL5

Predicted Effect

probably benign
Transcript: ENSMUST00000039655
AA Change: I590V

PolyPhen 2 Score 0.390 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000049248
Gene: ENSMUSG00000034377
AA Change: I590V

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: ENSMUST00000149756
AA Change: I397V

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000123218
Gene: ENSMUSG00000034377
AA Change: I397V

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

0.0834

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.6%
20x: 93.5%

Validation Efficiency

100% (69/69)

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	G	T	13: 77,245,370		probably benign	Het
Acot3	T	G	12: 84,053,943		probably null	Het
Acox1	A	T	11: 116,174,682	C523*	probably null	Het
Adamts19	G	A	18: 58,972,825	C764Y	probably damaging	Het
Agrn	GCTCT	GCTCTCT	4: 156,166,519		probably null	Het
Apob	A	G	12: 8,016,087	K4319R	probably benign	Het
AU016765	A	C	17: 64,555,438		noncoding transcript	Het
Bpifb1	T	A	2: 154,213,983		probably null	Het
Btn2a2	A	G	13: 23,481,936	V242A	probably benign	Het
Camta1	A	G	4: 151,084,024	S1281P	probably benign	Het
Ccdc116	T	C	16: 17,141,908	K306E	probably benign	Het
Cemip	A	G	7: 83,935,658	V1350A	probably benign	Het
Clip2	A	T	5: 134,502,929	L674*	probably null	Het
Cyp2d12	T	A	15: 82,558,050	D244E	probably benign	Het
Cyp4x1	A	G	4: 115,111,670	V379A	possibly damaging	Het
Dnah9	T	A	11: 66,168,079	H130L	possibly damaging	Het
Enpp7	A	G	11: 118,990,983	Y318C	probably damaging	Het
Fras1	A	T	5: 96,554,889		probably null	Het
Glra3	G	T	8: 55,940,907	A18S	probably benign	Het
Gm28042	T	A	2: 120,036,391	S172T	possibly damaging	Het
Gm7808	T	A	9: 19,928,003		probably benign	Het
Gm8909	A	G	17: 36,161,784		probably benign	Het
Gpr61	C	T	3: 108,150,380	V322M	possibly damaging	Het
Hapln3	A	G	7: 79,123,450	V15A	unknown	Het
Ip6k1	G	A	9: 108,040,996	E77K	possibly damaging	Het
Klk1b4	A	G	7: 44,209,672	Y38C	probably damaging	Het
Lrrfip1	A	G	1: 91,115,555	K561E	probably damaging	Het
Map3k1	A	G	13: 111,755,419	C1101R	probably benign	Het
Mcoln2	A	G	3: 146,190,474		probably benign	Het
Mfsd2b	G	A	12: 4,869,037	T73I	probably damaging	Het
Mfsd4b5	C	T	10: 39,975,203	V19I	probably benign	Het
Mgme1	T	A	2: 144,272,318	D113E	probably benign	Het
Mki67	A	G	7: 135,695,494	S2604P	probably damaging	Het
Mob3c	A	G	4: 115,831,644	I125V	probably benign	Het
Mrps9	G	A	1: 42,903,399	R339H	probably damaging	Het
Ndst1	T	C	18: 60,707,803	D269G	probably damaging	Het
Nedd9	T	C	13: 41,338,926	N30S	probably damaging	Het
Notch4	G	A	17: 34,576,763		probably benign	Het
Olfr1095	A	T	2: 86,851,187	N170K	probably benign	Het
Olfr250	A	G	9: 38,367,594	D6G	probably benign	Het
Olfr877	G	A	9: 37,855,453	V212I	probably benign	Het
Olfr995	T	C	2: 85,438,805	M118V	probably benign	Het
Papss1	C	A	3: 131,619,185	R447S	probably damaging	Het
Pla2g4a	C	T	1: 149,871,523		probably benign	Het
Rab11fip2	A	G	19: 59,935,649	F266L	probably damaging	Het
Ralgapb	T	A	2: 158,443,280	Y554*	probably null	Het
Rem2	T	C	14: 54,479,150	V240A	probably damaging	Het
Retsat	T	C	6: 72,602,671	V143A	probably benign	Het
Rnf141	G	T	7: 110,821,273	Q175K	probably damaging	Het
Rtcb	C	A	10: 85,942,017	G431V	probably damaging	Het
Slc7a6os	A	G	8: 106,204,339	W222R	probably damaging	Het
Smarcc2	T	C	10: 128,468,998		probably benign	Het
Smchd1	A	T	17: 71,448,833	Y218N	possibly damaging	Het
Sp110	G	A	1: 85,594,385	H66Y	probably benign	Het
Speg	G	A	1: 75,417,863	E1739K	probably benign	Het
Speg	A	G	1: 75,421,744	Q1945R	possibly damaging	Het
Sprtn	T	C	8: 124,898,357	V67A	probably damaging	Het
Tktl2	G	A	8: 66,512,347	V186M	probably damaging	Het
Tnks1bp1	G	T	2: 85,071,738	E997D	probably benign	Het
Tti1	A	T	2: 158,008,224	V365E	probably benign	Het
Vmn2r61	A	G	7: 42,300,697	D847G	probably benign	Het
Zfp184	A	G	13: 21,959,272	T383A	possibly damaging	Het
Zik1	T	A	7: 10,492,341	E33V	probably damaging	Het
Zik1	C	A	7: 10,492,342	E33*	probably null	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
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
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'- GTGCCCTGACTATTGAGAGCCAAC -3'
(R):5'- TTCCTGGAACTGAGGAGTCACTGC -3'

Sequencing Primer
(F):5'- CTGACTATTGAGAGCCAACATTCTAC -3'
(R):5'- TCACTCAGAGCTGTCCTGGAG -3'

Posted On

2014-05-14