Mutagenetix > Incidental Mutation

Incidental Mutation 'R7577:Ensa'

586484

Institutional Source

Beutler Lab

Gene Symbol

Ensa

Ensembl Gene

ENSMUSG00000038619

Gene Name

endosulfine alpha

Synonyms

1700020C18Rik, 2610007F17Rik

MMRRC Submission

045662-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

R7577 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

95532304-95539413 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 95535956 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 96 (H96Q)

Ref Sequence

ENSEMBL: ENSMUSP00000051799 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037983] [ENSMUST00000058230]

AlphaFold

P60840

Predicted Effect

probably damaging
Transcript: ENSMUST00000037983
AA Change: H96Q

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

SMART Domains

Protein: ENSMUSP00000045937
Gene: ENSMUSG00000038619
AA Change: H96Q

Domain	Start	End	E-Value	Type
Pfam:Endosulfine	1	113	1.6e-15	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000058230
AA Change: H96Q

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

SMART Domains

Protein: ENSMUSP00000051799
Gene: ENSMUSG00000038619
AA Change: H96Q

Domain	Start	End	E-Value	Type
Pfam:Endosulfine	11	114	1.2e-11	PFAM

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.] The protein encoded by this gene belongs to a highly conserved cAMP-regulated phosphoprotein (ARPP) family. This protein was identified as an endogenous ligand for the sulfonylurea receptor, ABCC8/SUR1. ABCC8 is the regulatory subunit of the ATP-sensitive potassium (KATP) channel, which is located on the plasma membrane of pancreatic beta cells and plays a key role in the control of insulin release from pancreatic beta cells. This protein is thought to be an endogenous regulator of KATP channels. In vitro studies have demonstrated that this protein modulates insulin secretion through the interaction with KATP channel, and this gene has been proposed as a candidate gene for type 2 diabetes. At least eight alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]

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
Enkur	C	T	2: 21,209,913 (GRCm39)	S16N	probably benign	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 Ensa

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01784:Ensa	APN	3	95,535,844 (GRCm39)	splice site	probably benign
IGL02224:Ensa	APN	3	95,535,990 (GRCm39)	missense	probably benign	0.00
R4745:Ensa	UTSW	3	95,538,745 (GRCm39)	missense	probably benign	0.00
R4754:Ensa	UTSW	3	95,529,865 (GRCm39)	unclassified	probably benign
R4793:Ensa	UTSW	3	95,532,489 (GRCm39)	critical splice donor site	probably null
R5435:Ensa	UTSW	3	95,529,769 (GRCm39)	unclassified	probably benign
R7021:Ensa	UTSW	3	95,534,359 (GRCm39)	splice site	probably null
X0066:Ensa	UTSW	3	95,535,969 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GCATGGGGAATACTTAGACAGC -3'
(R):5'- CAGAATGTCTCCCCTGGATG -3'

Sequencing Primer
(F):5'- GCTTATGCTGACGGTAGACAG -3'
(R):5'- TGGCAAGCTGAGCTCTGACTAG -3'

Posted On

2019-10-24