Mutagenetix > Incidental Mutation

Incidental Mutation 'R7577:Enkur'

586470

Institutional Source

Beutler Lab

Gene Symbol

Enkur

Ensembl Gene

ENSMUSG00000026679

Gene Name

enkurin, TRPC channel interacting protein

Synonyms

4933434I06Rik

MMRRC Submission

045662-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.137) question?

Stock #

R7577 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

21185542-21210176 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 21209913 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Asparagine at position 16 (S16N)

Ref Sequence

ENSEMBL: ENSMUSP00000027992 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027992] [ENSMUST00000054591] [ENSMUST00000102951] [ENSMUST00000102952] [ENSMUST00000138914] [ENSMUST00000138965]

AlphaFold

Q6SP97

Predicted Effect

probably benign
Transcript: ENSMUST00000027992
AA Change: S16N

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000027992
Gene: ENSMUSG00000026679
AA Change: S16N

Domain	Start	End	E-Value	Type
Pfam:Enkurin	152	248	6.3e-32	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000054591

SMART Domains

Protein: ENSMUSP00000052452
Gene: ENSMUSG00000048550

Domain	Start	End	E-Value	Type
Pfam:AAA_17	57	202	2e-8	PFAM
Pfam:SKI	64	221	5.8e-40	PFAM
Pfam:Thr_synth_N	230	318	3.2e-16	PFAM
Pfam:PALP	326	659	2.2e-9	PFAM
low complexity region	684	701	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000102951

SMART Domains

Protein: ENSMUSP00000100016
Gene: ENSMUSG00000048550

Domain	Start	End	E-Value	Type
PDB:1KL7\|B	2	158	2e-27	PDB
SCOP:d1kl7a_	2	214	7e-20	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000102952

SMART Domains

Protein: ENSMUSP00000100017
Gene: ENSMUSG00000048550

Domain	Start	End	E-Value	Type
PDB:1KL7\|B	2	158	2e-27	PDB
SCOP:d1kl7a_	2	214	7e-20	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000138914

Predicted Effect

probably benign
Transcript: ENSMUST00000138965

SMART Domains

Protein: ENSMUSP00000115186
Gene: ENSMUSG00000048550

Domain	Start	End	E-Value	Type
PDB:1KL7\|B	2	93	5e-16	PDB

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that interacts with calmodulin and several transient receptor potential canonical cation channel proteins. The encoded protein may function as an adaptor to localize signal transduction machinery to calcium channels. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]
PHENOTYPE: Some mice homozygous for a knock-out allele exhibit situs invertus or ambiguus. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610008E11Rik	C	T	10: 78,902,325 (GRCm39)	V664M	possibly damaging	Het
Abca4	A	G	3: 121,967,663 (GRCm39)	T2238A	probably damaging	Het
Adss2	G	A	1: 177,595,263 (GRCm39)	Q426*	probably null	Het
Afap1l2	T	C	19: 56,933,199 (GRCm39)	E71G	probably damaging	Het
Afg1l	T	C	10: 42,194,607 (GRCm39)	D395G	probably damaging	Het
Akap9	C	G	5: 4,018,745 (GRCm39)	H1109D	probably benign	Het
Alms1	A	G	6: 85,592,302 (GRCm39)	T385A	probably benign	Het
Ank3	C	T	10: 69,828,402 (GRCm39)	T2357I		Het
Ankfn1	T	A	11: 89,394,797 (GRCm39)	S263C	probably benign	Het
Atpsckmt	C	T	15: 31,606,186 (GRCm39)	A48V	probably damaging	Het
Azin1	C	T	15: 38,501,665 (GRCm39)	V29I	probably benign	Het
B3galt2	T	C	1: 143,523,042 (GRCm39)	Y393H	probably damaging	Het
Cnbd2	G	T	2: 156,170,296 (GRCm39)	R127L	possibly damaging	Het
Col6a5	A	T	9: 105,741,887 (GRCm39)	L2344*	probably null	Het
Csn3	T	C	5: 88,077,821 (GRCm39)	V109A	not run	Het
Cxcr2	C	G	1: 74,198,074 (GRCm39)	N189K	probably benign	Het
Dclre1a	A	G	19: 56,517,965 (GRCm39)	F1038S	probably damaging	Het
Ddx21	T	C	10: 62,426,449 (GRCm39)	Q468R	probably benign	Het
Dlx6	A	G	6: 6,863,423 (GRCm39)	D15G	probably damaging	Het
Dnajb14	T	C	3: 137,610,558 (GRCm39)	V262A	possibly damaging	Het
Dpp7	A	G	2: 25,245,603 (GRCm39)	V161A	probably benign	Het
Ensa	C	A	3: 95,535,956 (GRCm39)	H96Q	probably damaging	Het
Ero1b	T	G	13: 12,617,254 (GRCm39)	C393G	probably damaging	Het
Fbxo3	T	C	2: 103,881,543 (GRCm39)	F292L	possibly damaging	Het
Fcgbpl1	A	G	7: 27,853,848 (GRCm39)	D1604G	possibly damaging	Het
Fos	T	C	12: 85,521,871 (GRCm39)	S102P	probably benign	Het
Foxs1	C	T	2: 152,774,361 (GRCm39)	G231S	probably benign	Het
Furin	T	C	7: 80,046,734 (GRCm39)	D174G	probably damaging	Het
Gbp10	G	A	5: 105,384,015 (GRCm39)		probably benign	Het
Git2	C	T	5: 114,904,550 (GRCm39)	R123H	probably damaging	Het
Gm32687	T	A	10: 81,716,023 (GRCm39)	C472S	probably damaging	Het
Gmip	A	G	8: 70,267,085 (GRCm39)	E327G	probably benign	Het
Gpld1	A	G	13: 25,146,388 (GRCm39)	T211A	probably benign	Het
Grin2d	T	C	7: 45,511,803 (GRCm39)	H214R	probably benign	Het
Hfm1	T	C	5: 107,043,909 (GRCm39)	T576A	probably benign	Het
Hnrnpd	A	T	5: 100,115,113 (GRCm39)	F142I	probably damaging	Het
Krt32	T	A	11: 99,972,047 (GRCm39)	T434S	probably benign	Het
Lct	T	G	1: 128,228,469 (GRCm39)	D1008A	probably damaging	Het
Man1c1	A	G	4: 134,291,814 (GRCm39)		probably null	Het
Marchf7	T	A	2: 60,060,048 (GRCm39)	C58*	probably null	Het
Mccc1	C	T	3: 36,029,943 (GRCm39)		probably null	Het
Mybpc1	T	A	10: 88,385,187 (GRCm39)	D484V	probably damaging	Het
Myh10	T	A	11: 68,636,806 (GRCm39)	C227S	unknown	Het
Niban1	T	A	1: 151,594,063 (GRCm39)	V916E	probably benign	Het
Nin	T	C	12: 70,109,480 (GRCm39)	E153G		Het
Nr1h2	G	A	7: 44,200,216 (GRCm39)	T313M	probably damaging	Het
Or4g7	T	A	2: 111,309,477 (GRCm39)	I116K	probably damaging	Het
Or5k15	G	T	16: 58,709,629 (GRCm39)	A318D	probably benign	Het
Otog	C	A	7: 45,937,279 (GRCm39)	H1663N	possibly damaging	Het
Piezo2	G	T	18: 63,186,081 (GRCm39)	T1696K	probably benign	Het
Plcd1	A	T	9: 118,901,322 (GRCm39)	N703K	possibly damaging	Het
Plekhg4	T	A	8: 106,102,031 (GRCm39)	C7S	probably benign	Het
Pnma2	A	G	14: 67,153,428 (GRCm39)		probably benign	Het
Potegl	A	G	2: 23,097,837 (GRCm39)	Y5C	probably benign	Het
Prag1	A	G	8: 36,614,096 (GRCm39)	Y1216C	probably damaging	Het
Prima1	T	C	12: 103,163,566 (GRCm39)	Y135C	probably damaging	Het
Prkce	C	A	17: 86,800,721 (GRCm39)	S379*	probably null	Het
Prmt7	A	G	8: 106,968,835 (GRCm39)	N383S	probably damaging	Het
Ptafr	A	G	4: 132,307,063 (GRCm39)	Y151C	probably damaging	Het
Ptprn2	T	C	12: 116,449,486 (GRCm39)	M1T	probably null	Het
Rad23a	A	T	8: 85,565,108 (GRCm39)	S136T	probably benign	Het
Rnf123	A	T	9: 107,947,818 (GRCm39)	Y137N	probably damaging	Het
Sfxn4	A	C	19: 60,842,324 (GRCm39)	I126S	probably benign	Het
Slc4a4	A	G	5: 89,373,726 (GRCm39)	H935R	probably damaging	Het
Slitrk3	T	G	3: 72,958,448 (GRCm39)	N108T	probably damaging	Het
Spred1	T	A	2: 117,007,806 (GRCm39)	H237Q	probably benign	Het
Syne1	T	A	10: 5,074,820 (GRCm39)	K1168N	probably damaging	Het
Syt14	T	C	1: 192,665,885 (GRCm39)	K340E	unknown	Het
Tespa1	T	C	10: 130,190,624 (GRCm39)	S84P	probably damaging	Het
Tmem268	G	T	4: 63,480,681 (GRCm39)		probably benign	Het
Tmem52b	T	A	6: 129,493,040 (GRCm39)	Y48*	probably null	Het
Tox2	C	A	2: 163,157,822 (GRCm39)	Y295*	probably null	Het
Trp53bp1	T	G	2: 121,067,119 (GRCm39)	T536P	possibly damaging	Het
Tysnd1	T	C	10: 61,531,665 (GRCm39)	C106R	probably benign	Het
Unc5d	T	C	8: 29,381,449 (GRCm39)	I63V	probably damaging	Het
Vmn1r235	A	G	17: 21,481,881 (GRCm39)	N69D	possibly damaging	Het
Vps11	A	T	9: 44,260,258 (GRCm39)	M868K	probably benign	Het
Wipf3	A	G	6: 54,462,509 (GRCm39)	T240A	possibly damaging	Het
Xirp2	G	A	2: 67,345,309 (GRCm39)	E2517K	possibly damaging	Het
Ylpm1	T	A	12: 85,043,994 (GRCm39)	L244Q	unknown	Het
Zdhhc18	G	T	4: 133,342,520 (GRCm39)	S198*	probably null	Het
Zfp760	T	A	17: 21,941,242 (GRCm39)	L139*	probably null	Het

Other mutations in Enkur

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01067:Enkur	APN	2	21,194,042 (GRCm39)	missense	probably benign	0.01
IGL01475:Enkur	APN	2	21,201,530 (GRCm39)	missense	probably damaging	0.96
IGL02642:Enkur	APN	2	21,199,198 (GRCm39)	missense	probably benign	0.00
R0032:Enkur	UTSW	2	21,194,115 (GRCm39)	missense	probably benign
R0032:Enkur	UTSW	2	21,194,115 (GRCm39)	missense	probably benign
R1737:Enkur	UTSW	2	21,199,106 (GRCm39)	missense	probably damaging	1.00
R1851:Enkur	UTSW	2	21,193,988 (GRCm39)	missense	probably benign	0.10
R2221:Enkur	UTSW	2	21,194,130 (GRCm39)	splice site	probably benign
R5483:Enkur	UTSW	2	21,199,109 (GRCm39)	missense	probably benign
R8906:Enkur	UTSW	2	21,201,568 (GRCm39)	missense	probably benign
R9134:Enkur	UTSW	2	21,185,779 (GRCm39)	missense	probably benign
R9472:Enkur	UTSW	2	21,201,590 (GRCm39)	missense	possibly damaging	0.65
X0025:Enkur	UTSW	2	21,185,923 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AATGGACGTCTGACAACACTAG -3'
(R):5'- GGGACTGTTACGAAAGGGTC -3'

Sequencing Primer
(F):5'- GACGTCTGACAACACTAGCTCAC -3'
(R):5'- CTGTTACGAAAGGGTCAAAGGG -3'

Posted On

2019-10-24