Mutagenetix > Incidental Mutation

Incidental Mutation 'R1897:Isl1'

212074

Institutional Source

Beutler Lab

Gene Symbol

Isl1

Ensembl Gene

ENSMUSG00000042258

Gene Name

ISL1 transcription factor, LIM/homeodomain

Synonyms

Islet 1

MMRRC Submission

039917-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1897 (G1)

Quality Score

184

Status

Validated

Chromosome

Chromosomal Location

116434817-116446225 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 116439866 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 161 (E161K)

Ref Sequence

ENSEMBL: ENSMUSP00000135567 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036060] [ENSMUST00000176044]

AlphaFold

P61372

Predicted Effect

probably benign
Transcript: ENSMUST00000036060
AA Change: E161K

PolyPhen 2 Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000044879
Gene: ENSMUSG00000042258
AA Change: E161K

Domain	Start	End	E-Value	Type
LIM	16	70	1.39e-13	SMART
LIM	78	132	4.99e-15	SMART
HOX	181	243	1.83e-20	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000176044
AA Change: E161K

PolyPhen 2 Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000135567
Gene: ENSMUSG00000042258
AA Change: E161K

Domain	Start	End	E-Value	Type
LIM	16	70	1.39e-13	SMART
LIM	78	132	4.99e-15	SMART
HOX	181	243	1.83e-20	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176444

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176812

SMART Domains

Protein: ENSMUSP00000135793
Gene: ENSMUSG00000042258

Domain	Start	End	E-Value	Type
LIM	1	40	1.3e-5	SMART
HOX	89	151	9.4e-23	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177469

Meta Mutation Damage Score

0.0984

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.3%
20x: 92.8%

Validation Efficiency

99% (72/73)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the LIM/homeodomain family of transcription factors. The encoded protein binds to the enhancer region of the insulin gene, among others, and may play an important role in regulating insulin gene expression. The encoded protein is central to the development of pancreatic cell lineages and may also be required for motor neuron generation. Mutations in this gene have been associated with maturity-onset diabetes of the young. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation fail to develop motor neurons and die by embryonic day 11.5 with abnormal heart and pancreas development. Mice heterozygous for an ENU mutation exhibit chronic otitis media and hearing loss. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acbd6	A	G	1: 155,434,564 (GRCm39)	S61G	probably damaging	Het
Acot12	A	G	13: 91,932,516 (GRCm39)	N504S	probably benign	Het
Adcy3	C	T	12: 4,223,450 (GRCm39)		probably benign	Het
Adcyap1r1	A	T	6: 55,456,179 (GRCm39)	H168L	probably damaging	Het
Adgrd1	A	G	5: 129,206,065 (GRCm39)	E213G	probably benign	Het
Aldh1l2	G	T	10: 83,338,389 (GRCm39)	T510K	probably damaging	Het
Apol7e	A	T	15: 77,602,094 (GRCm39)	M231L	probably benign	Het
Asb1	C	A	1: 91,474,647 (GRCm39)		probably null	Het
Atf7ip2	C	T	16: 10,028,948 (GRCm39)	P160L	probably damaging	Het
Atp8a1	A	G	5: 67,895,772 (GRCm39)	L554P	probably damaging	Het
Ccdc18	A	T	5: 108,343,908 (GRCm39)	M884L	probably benign	Het
Ccdc93	A	G	1: 121,418,941 (GRCm39)	I499V	probably benign	Het
Ccl20	A	G	1: 83,095,616 (GRCm39)	D60G	probably damaging	Het
Cdhr3	T	C	12: 33,095,192 (GRCm39)	T626A	possibly damaging	Het
Cep250	A	G	2: 155,818,015 (GRCm39)	E789G	probably damaging	Het
Cmpk2	T	C	12: 26,524,046 (GRCm39)	L281P	probably damaging	Het
Col6a6	A	T	9: 105,662,943 (GRCm39)	M198K	possibly damaging	Het
Crocc	G	A	4: 140,746,047 (GRCm39)	R1691C	probably damaging	Het
Csf1	C	T	3: 107,655,595 (GRCm39)	V90M	probably damaging	Het
Cul2	T	G	18: 3,414,164 (GRCm39)	M86R	probably benign	Het
Dbndd2	T	C	2: 164,330,584 (GRCm39)	F79S	probably damaging	Het
Dkk1	G	T	19: 30,526,678 (GRCm39)	N34K	possibly damaging	Het
Dnah6	T	A	6: 73,158,745 (GRCm39)	L619F	probably benign	Het
Eif2b5	T	C	16: 20,325,787 (GRCm39)	V588A	probably damaging	Het
Elf3	A	T	1: 135,184,875 (GRCm39)	Y104N	probably damaging	Het
Fahd2a	T	C	2: 127,278,530 (GRCm39)	D272G	probably damaging	Het
Fbxw15	A	T	9: 109,387,271 (GRCm39)	C188*	probably null	Het
Fbxw8	T	C	5: 118,266,941 (GRCm39)	Y174C	probably benign	Het
Gnl1	C	A	17: 36,299,584 (GRCm39)	P585Q	possibly damaging	Het
Greb1l	T	C	18: 10,498,992 (GRCm39)	S292P	probably benign	Het
Gsk3b	G	A	16: 38,037,446 (GRCm39)		probably null	Het
Hcls1	C	T	16: 36,783,005 (GRCm39)	P452L	probably damaging	Het
Hdlbp	A	T	1: 93,350,007 (GRCm39)		probably benign	Het
Hecw1	A	G	13: 14,552,525 (GRCm39)	S25P	probably damaging	Het
Hells	T	C	19: 38,928,928 (GRCm39)	V100A	probably benign	Het
Klra9	G	T	6: 130,162,555 (GRCm39)	N160K	possibly damaging	Het
Lama4	T	C	10: 38,936,182 (GRCm39)	V619A	probably damaging	Het
Mpc1	G	A	17: 8,515,710 (GRCm39)	R134Q	possibly damaging	Het
Myo5c	A	T	9: 75,199,523 (GRCm39)	N1377I	probably benign	Het
Myrf	T	C	19: 10,195,596 (GRCm39)	I607V	probably benign	Het
Or2g1	T	G	17: 38,107,075 (GRCm39)	S247A	probably benign	Het
Or8g53	A	T	9: 39,683,361 (GRCm39)	I245K	probably damaging	Het
Pik3c2b	A	G	1: 132,994,654 (GRCm39)	D206G	possibly damaging	Het
Pipox	A	G	11: 77,773,568 (GRCm39)	Y228H	probably damaging	Het
Pitrm1	T	A	13: 6,610,131 (GRCm39)	V401D	possibly damaging	Het
Plod1	C	T	4: 148,010,657 (GRCm39)	E265K	probably damaging	Het
Ptpn21	A	T	12: 98,646,664 (GRCm39)		probably null	Het
Qars1	C	T	9: 108,391,282 (GRCm39)	Q7*	probably null	Het
Rpap2	T	A	5: 107,780,961 (GRCm39)	V479E	possibly damaging	Het
Rsf1	G	A	7: 97,229,117 (GRCm39)		probably benign	Het
Rusc2	A	G	4: 43,421,749 (GRCm39)	Y723C	probably damaging	Het
Ryr2	A	T	13: 11,765,818 (GRCm39)	M1306K	probably benign	Het
Sesn3	A	C	9: 14,219,941 (GRCm39)	Y110S	probably damaging	Het
Sgce	C	T	6: 4,691,511 (GRCm39)	V319I	probably benign	Het
Slc15a5	G	T	6: 138,056,762 (GRCm39)	F51L	possibly damaging	Het
Slit2	T	A	5: 48,395,765 (GRCm39)	C723S	probably damaging	Het
Sncaip	A	G	18: 53,027,862 (GRCm39)		probably null	Het
Snx2	T	A	18: 53,330,950 (GRCm39)	D138E	probably damaging	Het
Spef2	A	T	15: 9,729,740 (GRCm39)	L126*	probably null	Het
Stam	T	C	2: 14,133,837 (GRCm39)	S195P	probably damaging	Het
Strn	T	C	17: 78,990,271 (GRCm39)	I82V	probably benign	Het
Synj2	T	A	17: 6,072,412 (GRCm39)	C202*	probably null	Het
Tecpr2	A	G	12: 110,899,681 (GRCm39)	D683G	probably benign	Het
Tfec	A	G	6: 16,835,307 (GRCm39)	V157A	probably damaging	Het
Tff1	T	G	17: 31,383,912 (GRCm39)	Q28P	probably benign	Het
Vmn2r86	A	G	10: 130,288,314 (GRCm39)	Y396H	probably damaging	Het
Vmn2r87	A	T	10: 130,307,829 (GRCm39)	M803K	probably damaging	Het
Vmn2r90	A	G	17: 17,953,566 (GRCm39)	K577E	probably damaging	Het
Vrk1	T	C	12: 106,002,799 (GRCm39)		probably benign	Het
Wdr20	A	G	12: 110,760,157 (GRCm39)	T348A	probably benign	Het

Other mutations in Isl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00676:Isl1	APN	13	116,439,589 (GRCm39)	missense	probably benign	0.02
IGL03251:Isl1	APN	13	116,441,985 (GRCm39)	missense	probably benign
R1928:Isl1	UTSW	13	116,444,953 (GRCm39)	missense	probably damaging	1.00
R2940:Isl1	UTSW	13	116,444,835 (GRCm39)	missense	possibly damaging	0.53
R4062:Isl1	UTSW	13	116,439,626 (GRCm39)	missense	probably benign	0.27
R4795:Isl1	UTSW	13	116,441,966 (GRCm39)	missense	probably benign	0.41
R4796:Isl1	UTSW	13	116,441,966 (GRCm39)	missense	probably benign	0.41
R4836:Isl1	UTSW	13	116,439,619 (GRCm39)	missense	probably benign	0.06
R4839:Isl1	UTSW	13	116,438,220 (GRCm39)	missense	probably damaging	1.00
R4870:Isl1	UTSW	13	116,444,806 (GRCm39)	splice site	probably benign
R5231:Isl1	UTSW	13	116,438,193 (GRCm39)	missense	probably benign	0.17
R6220:Isl1	UTSW	13	116,439,803 (GRCm39)	missense	probably benign	0.24
R7231:Isl1	UTSW	13	116,439,826 (GRCm39)	missense	probably benign	0.06
R8191:Isl1	UTSW	13	116,441,954 (GRCm39)	missense	probably benign
R8493:Isl1	UTSW	13	116,441,835 (GRCm39)	missense	possibly damaging	0.88
R8969:Isl1	UTSW	13	116,439,857 (GRCm39)	missense	possibly damaging	0.70
R9273:Isl1	UTSW	13	116,444,902 (GRCm39)	nonsense	probably null
R9325:Isl1	UTSW	13	116,436,105 (GRCm39)	missense	probably damaging	1.00
R9614:Isl1	UTSW	13	116,441,924 (GRCm39)	missense

Predicted Primers

PCR Primer
(F):5'- ACCACACTCGGATGACTCTG -3'
(R):5'- AACAGGGGTTGCATCTCTTATC -3'

Sequencing Primer
(F):5'- ACTCGGATGACTCTGGGACTG -3'
(R):5'- GGGGTTGCATCTCTTATCTCCCC -3'

Posted On

2014-06-30