Mutagenetix > Incidental Mutations

Incidental Mutation 'R6682:Trpc4ap'

527526

Institutional Source

Beutler Lab

Gene Symbol

Trpc4ap

Ensembl Gene

ENSMUSG00000038324

Gene Name

transient receptor potential cation channel, subfamily C, member 4 associated protein

Synonyms

D2Ertd113e, Trrp4ap, 4833429F06Rik, Trp4-associated protein TAP1

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.219) question?

Stock #

R6682 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

155634271-155692384 bp(-) (GRCm38)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

C to T at 155637767 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000099429 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041059] [ENSMUST00000041059] [ENSMUST00000092995] [ENSMUST00000103140] [ENSMUST00000103140]

Predicted Effect

probably null
Transcript: ENSMUST00000041059

SMART Domains

Protein: ENSMUSP00000037574
Gene: ENSMUSG00000038324

Domain	Start	End	E-Value	Type
low complexity region	2	35	N/A	INTRINSIC
low complexity region	38	53	N/A	INTRINSIC
Pfam:DUF3689	407	714	5.2e-135	PFAM
low complexity region	724	735	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000041059

SMART Domains

Protein: ENSMUSP00000037574
Gene: ENSMUSG00000038324

Domain	Start	End	E-Value	Type
low complexity region	2	35	N/A	INTRINSIC
low complexity region	38	53	N/A	INTRINSIC
Pfam:DUF3689	407	714	5.2e-135	PFAM
low complexity region	724	735	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000092995

SMART Domains

Protein: ENSMUSP00000090672
Gene: ENSMUSG00000074652

Domain	Start	End	E-Value	Type
Pfam:Myosin_N	32	72	4.7e-14	PFAM
MYSc	78	786	N/A	SMART
IQ	787	809	2.6e0	SMART
Pfam:Myosin_tail_1	850	1931	5.5e-149	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000103140

SMART Domains

Protein: ENSMUSP00000099429
Gene: ENSMUSG00000038324

Domain	Start	End	E-Value	Type
low complexity region	2	35	N/A	INTRINSIC
low complexity region	38	53	N/A	INTRINSIC
Pfam:DUF3689	399	710	1.1e-138	PFAM
low complexity region	716	727	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000103140

SMART Domains

Protein: ENSMUSP00000099429
Gene: ENSMUSG00000038324

Domain	Start	End	E-Value	Type
low complexity region	2	35	N/A	INTRINSIC
low complexity region	38	53	N/A	INTRINSIC
Pfam:DUF3689	399	710	1.1e-138	PFAM
low complexity region	716	727	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143115

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146484

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152548

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153246

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154656

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aspm	T	C	1: 139,457,722	V368A	possibly damaging	Het
Bcl9l	A	G	9: 44,501,103	T92A	possibly damaging	Het
Celsr2	A	T	3: 108,400,501		probably null	Het
Cndp2	T	C	18: 84,677,330	K149E	probably benign	Het
Cnpy4	T	C	5: 138,187,722		probably null	Het
Cox6c	A	T	15: 35,938,173		probably null	Het
Cpt2	G	T	4: 107,904,430	S158R	probably damaging	Het
Dlgap1	A	G	17: 70,787,123	K813R	probably damaging	Het
Dock10	A	C	1: 80,512,621	L1927R	probably damaging	Het
Gak	T	A	5: 108,598,876	K430I	probably damaging	Het
Grik3	T	A	4: 125,650,466	Y327N	probably damaging	Het
Ldb3	T	A	14: 34,552,264	T334S	possibly damaging	Het
Ldlr	A	G	9: 21,732,375	D85G	probably benign	Het
Med26	T	A	8: 72,496,083	T391S	probably benign	Het
Mmp27	A	G	9: 7,573,605	T233A	probably benign	Het
Mob1a	A	G	6: 83,334,150	Y117C	possibly damaging	Het
Mrps35	A	T	6: 147,048,279	E97V	possibly damaging	Het
Msln	A	T	17: 25,753,019	S75T	probably damaging	Het
Myoz1	C	T	14: 20,653,619		probably null	Het
Nim1k	A	G	13: 119,712,188	I390T	probably benign	Het
Olfr1301	C	T	2: 111,754,635	P129S	probably damaging	Het
Olfr370	A	G	8: 83,541,558	H138R	probably benign	Het
Pclo	A	C	5: 14,539,879	Q731P	unknown	Het
Prl3d3	G	A	13: 27,161,040	E132K	probably benign	Het
Pth1r	C	T	9: 110,727,251		probably null	Het
Ptpru	T	C	4: 131,820,782	M135V	probably benign	Het
Slc12a9	A	T	5: 137,327,401	L316Q	probably damaging	Het
Slc35f6	G	A	5: 30,657,420	M177I	possibly damaging	Het
Smc4	T	A	3: 69,007,241	S62R	probably damaging	Het
Tmem179	C	T	12: 112,503,280	D29N	probably benign	Het
Togaram2	A	T	17: 71,704,754	D476V	probably benign	Het
Trpm8	C	A	1: 88,326,502	T149K	probably damaging	Het
Uhmk1	C	T	1: 170,212,235		probably null	Het
Vmn2r79	C	A	7: 87,004,162	T545K	possibly damaging	Het
Vmn2r95	C	A	17: 18,440,227	N300K	probably damaging	Het
Wdr41	G	A	13: 95,013,131	G419D	probably damaging	Het
Zc3hav1	A	T	6: 38,325,195	H597Q	probably benign	Het
Zfp704	T	C	3: 9,565,193	E36G	probably benign	Het
Zfp9	A	G	6: 118,467,241	V47A	possibly damaging	Het

Other mutations in Trpc4ap

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01933:Trpc4ap	APN	2	155639535	missense	possibly damaging	0.90
IGL02149:Trpc4ap	APN	2	155639547	missense	probably damaging	0.97
IGL02313:Trpc4ap	APN	2	155650468	missense	probably damaging	1.00
IGL02408:Trpc4ap	APN	2	155671069	missense	possibly damaging	0.71
R0057:Trpc4ap	UTSW	2	155640486	missense	possibly damaging	0.94
R0057:Trpc4ap	UTSW	2	155640486	missense	possibly damaging	0.94
R0255:Trpc4ap	UTSW	2	155657946	splice site	probably benign
R0306:Trpc4ap	UTSW	2	155636260	missense	probably benign	0.37
R0382:Trpc4ap	UTSW	2	155636230	missense	probably damaging	1.00
R0525:Trpc4ap	UTSW	2	155640478	missense	possibly damaging	0.85
R1184:Trpc4ap	UTSW	2	155645070	splice site	probably benign
R1711:Trpc4ap	UTSW	2	155657744	missense	probably benign	0.01
R2113:Trpc4ap	UTSW	2	155657936	missense	probably damaging	0.99
R3810:Trpc4ap	UTSW	2	155643435	missense	probably damaging	1.00
R4384:Trpc4ap	UTSW	2	155640507	missense	possibly damaging	0.85
R4664:Trpc4ap	UTSW	2	155672997	missense	probably benign	0.04
R4690:Trpc4ap	UTSW	2	155635133	missense	probably damaging	0.97
R5347:Trpc4ap	UTSW	2	155672988	critical splice donor site	probably null
R5655:Trpc4ap	UTSW	2	155653627	missense	possibly damaging	0.95
R5689:Trpc4ap	UTSW	2	155671035	splice site	probably null
R5828:Trpc4ap	UTSW	2	155635210	intron	probably benign
R5894:Trpc4ap	UTSW	2	155666213	missense	probably benign	0.11
R6056:Trpc4ap	UTSW	2	155671074	missense	probably damaging	1.00
R6289:Trpc4ap	UTSW	2	155663707	missense	possibly damaging	0.90
R6539:Trpc4ap	UTSW	2	155636258	missense	probably benign	0.00
R7022:Trpc4ap	UTSW	2	155657822	missense	probably benign	0.01
R7031:Trpc4ap	UTSW	2	155692215	missense	unknown
R8527:Trpc4ap	UTSW	2	155692212	missense	unknown
R8542:Trpc4ap	UTSW	2	155692212	missense	unknown
R8687:Trpc4ap	UTSW	2	155635250	missense	possibly damaging	0.88
R8955:Trpc4ap	UTSW	2	155666251	missense	possibly damaging	0.85
X0018:Trpc4ap	UTSW	2	155653564	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- ACTAACACATCGAGTTTGGTCAAG -3'
(R):5'- TGGGACAGTCAGGCTTCAAG -3'

Sequencing Primer
(F):5'- CACATCGAGTTTGGTCAAGACTGTC -3'
(R):5'- GCCAGACCCTAAGACTATTGGG -3'

Posted On

2018-07-23