Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03219:Tulp4'

413579

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tulp4

Ensembl Gene

ENSMUSG00000034377

Gene Name

tubby like protein 4

Synonyms

2210038L17Rik, 1110057P05Rik

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.693) question?

Stock #

IGL03219

Quality Score

Status

Chromosome

Chromosomal Location

6156528-6290912 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 6189285 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 36 (C36R)

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: C36R

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

SMART Domains

Protein: ENSMUSP00000049248
Gene: ENSMUSG00000034377
AA Change: C36R

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Clasp2	T	C	9: 113,677,545 (GRCm39)		probably benign	Het
Ctss	C	T	3: 95,450,411 (GRCm39)	R121W	possibly damaging	Het
Cyp2c67	A	T	19: 39,631,738 (GRCm39)	M153K	possibly damaging	Het
Cyp2d34	T	C	15: 82,502,740 (GRCm39)	H162R	probably benign	Het
Dynlrb2	A	T	8: 117,241,635 (GRCm39)	I60F	probably benign	Het
E4f1	C	T	17: 24,664,419 (GRCm39)		probably null	Het
Fzd6	T	A	15: 38,894,971 (GRCm39)	V379E	probably damaging	Het
Galnt13	T	C	2: 54,823,447 (GRCm39)	V341A	possibly damaging	Het
Hip1	T	C	5: 135,485,904 (GRCm39)	S100G	probably benign	Het
Ncapd3	T	C	9: 26,975,169 (GRCm39)		probably benign	Het
Obox3	G	A	7: 15,359,803 (GRCm39)	L289F	probably damaging	Het
Or52s6	C	T	7: 103,091,745 (GRCm39)	G195E	possibly damaging	Het
Or8b50	G	T	9: 38,518,247 (GRCm39)	C162F	probably benign	Het
Pkhd1l1	G	A	15: 44,460,291 (GRCm39)	E4167K	possibly damaging	Het
Pphln1	T	C	15: 93,363,136 (GRCm39)		probably benign	Het
Ranbp6	A	T	19: 29,787,680 (GRCm39)	W891R	probably damaging	Het
Rgs22	A	T	15: 36,107,194 (GRCm39)	L64Q	probably damaging	Het
Ripor2	A	T	13: 24,907,702 (GRCm39)	Y991F	probably damaging	Het
Senp2	T	A	16: 21,833,014 (GRCm39)		probably benign	Het
Slc44a3	G	A	3: 121,257,169 (GRCm39)	T508I	probably damaging	Het
Tdrd6	T	C	17: 43,938,855 (GRCm39)	D731G	probably benign	Het
Thnsl1	T	A	2: 21,217,217 (GRCm39)	C324S	probably benign	Het
Tnfrsf11b	A	T	15: 54,117,574 (GRCm39)	L227*	probably null	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
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
R0711:Tulp4	UTSW	17	6,189,387 (GRCm39)	missense	possibly damaging	0.94
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

Posted On

2016-08-02