Mutagenetix > Incidental Mutation

Incidental Mutation 'R5435:Ensa'

428248

Institutional Source

Beutler Lab

Gene Symbol

Ensa

Ensembl Gene

ENSMUSG00000038619

Gene Name

endosulfine alpha

Synonyms

1700020C18Rik, 2610007F17Rik

MMRRC Submission

043000-MU

Accession Numbers

Essential gene?

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

Stock #

R5435 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

95532304-95539413 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

C to A at 95529769 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037983] [ENSMUST00000058230] [ENSMUST00000060323] [ENSMUST00000098861] [ENSMUST00000177390]

AlphaFold

P60840

Predicted Effect

probably benign
Transcript: ENSMUST00000037983

SMART Domains

Protein: ENSMUSP00000045937
Gene: ENSMUSG00000038619

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

Predicted Effect

probably benign
Transcript: ENSMUST00000058230

SMART Domains

Protein: ENSMUSP00000051799
Gene: ENSMUSG00000038619

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

Predicted Effect

probably benign
Transcript: ENSMUST00000060323

SMART Domains

Protein: ENSMUSP00000058654
Gene: ENSMUSG00000046519

Domain	Start	End	E-Value	Type
Pfam:GPP34	50	275	8.5e-54	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000074353

SMART Domains

Protein: ENSMUSP00000136770
Gene: ENSMUSG00000060438

Domain	Start	End	E-Value	Type
Pfam:S10_plectin	3	98	4.8e-50	PFAM
low complexity region	150	165	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000098861

SMART Domains

Protein: ENSMUSP00000096460
Gene: ENSMUSG00000046519

Domain	Start	End	E-Value	Type
low complexity region	58	69	N/A	INTRINSIC
low complexity region	72	83	N/A	INTRINSIC
Pfam:GPP34	106	277	5.1e-51	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000176541

Predicted Effect

probably benign
Transcript: ENSMUST00000176674

SMART Domains

Protein: ENSMUSP00000134885
Gene: ENSMUSG00000046519

Domain	Start	End	E-Value	Type
low complexity region	58	69	N/A	INTRINSIC
low complexity region	72	83	N/A	INTRINSIC
Pfam:GPP34	104	288	2.4e-39	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197050

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199421

Predicted Effect

probably benign
Transcript: ENSMUST00000177390

SMART Domains

Protein: ENSMUSP00000134799
Gene: ENSMUSG00000046519

Domain	Start	End	E-Value	Type
low complexity region	58	69	N/A	INTRINSIC
low complexity region	72	83	N/A	INTRINSIC
Pfam:GPP34	106	332	8.3e-61	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000176755

SMART Domains

Protein: ENSMUSP00000134804
Gene: ENSMUSG00000046519

Domain	Start	End	E-Value	Type
low complexity region	56	67	N/A	INTRINSIC
low complexity region	70	81	N/A	INTRINSIC
Pfam:GPP34	104	275	7.5e-51	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000177389

Predicted Effect

probably benign
Transcript: ENSMUST00000177399

SMART Domains

Protein: ENSMUSP00000134998
Gene: ENSMUSG00000046519

Domain	Start	End	E-Value	Type
Pfam:GPP34	23	170	5.4e-27	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

100% (74/74)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	G	14: 32,383,413 (GRCm39)	F851L	probably benign	Het
Abca17	C	T	17: 24,486,588 (GRCm39)	V1480I	possibly damaging	Het
Acsbg1	G	T	9: 54,523,153 (GRCm39)	Y491*	probably null	Het
Acsf3	T	A	8: 123,507,020 (GRCm39)	N104K	probably damaging	Het
Adam23	T	C	1: 63,585,612 (GRCm39)	Y400H	possibly damaging	Het
Adgra3	G	A	5: 50,147,468 (GRCm39)	T524M	probably damaging	Het
Aff1	G	A	5: 103,902,198 (GRCm39)		probably benign	Het
Anxa9	T	C	3: 95,204,561 (GRCm39)	Y321C	probably damaging	Het
Ap1g1	T	A	8: 110,565,552 (GRCm39)	Y329N	probably damaging	Het
Aph1c	A	T	9: 66,741,783 (GRCm39)	I33N	possibly damaging	Het
B3galnt2	A	G	13: 14,171,575 (GRCm39)	E491G	probably benign	Het
Bdh1	C	T	16: 31,275,475 (GRCm39)	R235C	probably damaging	Het
Ccar2	A	G	14: 70,376,776 (GRCm39)	L856P	probably damaging	Het
Ccdc107	A	T	4: 43,493,519 (GRCm39)	D30V	probably damaging	Het
Ccdc116	G	T	16: 16,960,626 (GRCm39)	H64N	probably benign	Het
Ccl12	T	C	11: 81,994,001 (GRCm39)	I86T	possibly damaging	Het
Col2a1	T	C	15: 97,898,391 (GRCm39)		probably benign	Het
Col4a4	T	A	1: 82,431,728 (GRCm39)	I1519F	unknown	Het
Ddx19b	T	C	8: 111,735,458 (GRCm39)	Q416R	possibly damaging	Het
Dnah6	T	A	6: 73,037,121 (GRCm39)	M3374L	probably benign	Het
Dnajc6	A	T	4: 101,463,807 (GRCm39)	I119F	probably damaging	Het
Fbxo4	C	T	15: 3,995,274 (GRCm39)	V357I	possibly damaging	Het
Fkbpl	G	A	17: 34,864,303 (GRCm39)	A24T	probably benign	Het
Foxf1	G	A	8: 121,811,231 (GRCm39)	G32S	probably damaging	Het
Gls2	G	A	10: 128,030,995 (GRCm39)		probably benign	Het
Gm13599	T	A	2: 67,226,496 (GRCm39)		noncoding transcript	Het
Gmnn	A	G	13: 24,936,084 (GRCm39)	S197P	probably benign	Het
Guf1	A	T	5: 69,720,512 (GRCm39)	H324L	probably benign	Het
H2-Q6	A	G	17: 35,644,661 (GRCm39)	D150G	probably damaging	Het
Herc3	T	A	6: 58,832,791 (GRCm39)	L152Q	probably damaging	Het
Hnrnpul2	T	G	19: 8,797,682 (GRCm39)	S13A	probably benign	Het
Ighv5-4	A	G	12: 113,561,283 (GRCm39)	F46L	probably benign	Het
Kank1	T	G	19: 25,388,507 (GRCm39)	S727A	probably benign	Het
Kcnma1	A	T	14: 23,578,472 (GRCm39)	Y201*	probably null	Het
Lyst	A	T	13: 13,951,649 (GRCm39)	H3750L	possibly damaging	Het
Mettl25	A	G	10: 105,615,447 (GRCm39)		probably null	Het
Mpdz	A	G	4: 81,201,724 (GRCm39)		probably benign	Het
Myh9	C	T	15: 77,653,809 (GRCm39)	V1280I	probably benign	Het
Neto1	A	T	18: 86,416,388 (GRCm39)	T32S	probably benign	Het
Nol7	C	A	13: 43,554,848 (GRCm39)	H187Q	possibly damaging	Het
Or5ak22	T	A	2: 85,230,814 (GRCm39)	N21I	probably benign	Het
Pcdha8	A	G	18: 37,126,652 (GRCm39)	D378G	probably damaging	Het
Peak1	A	G	9: 56,113,770 (GRCm39)	S694P	probably damaging	Het
Pih1d1	T	A	7: 44,805,696 (GRCm39)		probably null	Het
Pik3c2g	T	G	6: 139,661,581 (GRCm39)		probably null	Het
Prkar2a	A	G	9: 108,617,682 (GRCm39)	R247G	probably damaging	Het
Psg26	A	G	7: 18,212,398 (GRCm39)	I319T	possibly damaging	Het
R3hdm4	C	T	10: 79,748,292 (GRCm39)	E162K	possibly damaging	Het
Rasa3	T	C	8: 13,681,811 (GRCm39)	E46G	possibly damaging	Het
Rbbp5	T	A	1: 132,422,013 (GRCm39)	H304Q	probably damaging	Het
Relch	T	A	1: 105,668,975 (GRCm39)		probably benign	Het
Scn1a	T	A	2: 66,103,878 (GRCm39)	E1783V	probably damaging	Het
Stag1	A	G	9: 100,835,603 (GRCm39)	N151S	probably benign	Het
Tbc1d32	C	A	10: 55,916,246 (GRCm39)	A1191S	probably damaging	Het
Tchh	C	A	3: 93,350,979 (GRCm39)	R140S	possibly damaging	Het
Trank1	A	G	9: 111,220,958 (GRCm39)	Y2565C	probably benign	Het
Ttn	A	T	2: 76,744,702 (GRCm39)	V5449D	probably damaging	Het
Tubgcp2	G	A	7: 139,575,985 (GRCm39)	P893S	possibly damaging	Het
Wdfy4	A	G	14: 32,742,268 (GRCm39)	F2325S	probably damaging	Het
Wdr35	A	G	12: 9,039,951 (GRCm39)	D352G	probably benign	Het
Wee1	TCCCC	TCCC	7: 109,723,776 (GRCm39)		probably null	Het
Ypel3	A	G	7: 126,374,960 (GRCm39)		probably benign	Het
Zan	T	A	5: 137,402,024 (GRCm39)	T4023S	unknown	Het
Zfp735	T	A	11: 73,602,939 (GRCm39)	C628S	possibly damaging	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
R7021:Ensa	UTSW	3	95,534,359 (GRCm39)	splice site	probably null
R7577:Ensa	UTSW	3	95,535,956 (GRCm39)	missense	probably damaging	1.00
X0066:Ensa	UTSW	3	95,535,969 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TGCCTAAGAAGAATCGGATTGC -3'
(R):5'- TTTTCTTGTCAGCTCCAGGG -3'

Sequencing Primer
(F):5'- AGAATCGGATTGCCATCTACG -3'
(R):5'- ACAGCGCTCCTTCTGTAGGTG -3'

Posted On

2016-09-01