Mutagenetix > Incidental Mutation

Incidental Mutation 'R4796:Isl1'

369080

Institutional Source

Beutler Lab

Gene Symbol

Isl1

Ensembl Gene

ENSMUSG00000042258

Gene Name

ISL1 transcription factor, LIM/homeodomain

Synonyms

Islet 1

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4796 (G1)

Quality Score

222

Status

Not validated

Chromosome

Chromosomal Location

116434817-116446225 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 116441966 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 89 (N89S)

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: N89S

PolyPhen 2 Score 0.414 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000044879
Gene: ENSMUSG00000042258
AA Change: N89S

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: N89S

PolyPhen 2 Score 0.414 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000135567
Gene: ENSMUSG00000042258
AA Change: N89S

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195602

Meta Mutation Damage Score

0.0711

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.8%

Validation Efficiency

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	C	T	13: 81,303,350 (GRCm39)	W132*	probably null	Het
Atp8b3	A	G	10: 80,360,188 (GRCm39)	V961A	probably damaging	Het
Bglap	A	C	3: 88,291,712 (GRCm39)	I4S	unknown	Het
Bmp1	T	C	14: 70,729,513 (GRCm39)		probably null	Het
Brd10	G	A	19: 29,731,018 (GRCm39)	H665Y	probably benign	Het
Btaf1	T	C	19: 36,933,828 (GRCm39)	L152P	possibly damaging	Het
Cacna1b	T	A	2: 24,527,499 (GRCm39)	T1621S	possibly damaging	Het
Capn3	A	T	2: 120,333,479 (GRCm39)	N621I	probably damaging	Het
Ccdc121rt3	A	G	5: 112,503,165 (GRCm39)	S180P	possibly damaging	Het
Ccdc59	T	C	10: 105,677,429 (GRCm39)	S23P	probably benign	Het
Cd22	A	T	7: 30,572,381 (GRCm39)		probably null	Het
Cdh20	A	G	1: 104,868,989 (GRCm39)	D160G	probably damaging	Het
Cep112	T	C	11: 108,377,818 (GRCm39)		probably null	Het
Clock	T	C	5: 76,413,763 (GRCm39)	K44R	probably damaging	Het
Coq10b	A	G	1: 55,110,957 (GRCm39)	T242A	probably damaging	Het
Cstdc2	A	G	2: 148,692,658 (GRCm39)	F48S	probably damaging	Het
Ctnnd1	G	T	2: 84,450,270 (GRCm39)	R317S	probably damaging	Het
Dlg5	G	A	14: 24,194,451 (GRCm39)	H1674Y	probably damaging	Het
Drc3	C	A	11: 60,254,354 (GRCm39)	N75K	probably damaging	Het
Efna4	T	C	3: 89,242,555 (GRCm39)	E113G	probably damaging	Het
Egr3	C	A	14: 70,315,024 (GRCm39)	A44D	probably benign	Het
Ercc3	T	C	18: 32,381,363 (GRCm39)	F393S	probably damaging	Het
Evi2	T	A	11: 79,406,273 (GRCm39)		probably benign	Het
Fam78b	T	C	1: 166,906,216 (GRCm39)	V125A	probably benign	Het
Fars2	A	T	13: 36,721,400 (GRCm39)	E448V	probably damaging	Het
Farsb	A	T	1: 78,401,833 (GRCm39)	*590R	probably null	Het
Fat3	A	G	9: 15,911,028 (GRCm39)	M1658T	probably benign	Het
Fhod3	G	T	18: 25,118,358 (GRCm39)	V232F	probably damaging	Het
Fkbpl	G	A	17: 34,864,303 (GRCm39)	A24T	probably benign	Het
Fzd3	A	G	14: 65,472,607 (GRCm39)	V387A	possibly damaging	Het
Gm1527	A	G	3: 28,974,812 (GRCm39)	I542V	possibly damaging	Het
Gm7964	A	G	7: 83,405,109 (GRCm39)		probably null	Het
Hbs1l	G	T	10: 21,218,405 (GRCm39)	G301C	probably damaging	Het
Hipk4	A	G	7: 27,227,995 (GRCm39)	H247R	probably benign	Het
Hmcn1	A	G	1: 150,629,362 (GRCm39)	V965A	probably benign	Het
Hoxa5	C	T	6: 52,180,943 (GRCm39)	A130T	probably benign	Het
Igf2r	C	T	17: 12,903,013 (GRCm39)	V2346I	possibly damaging	Het
Igsf8	T	C	1: 172,143,889 (GRCm39)	V14A	probably benign	Het
Impg1	G	A	9: 80,301,377 (GRCm39)	P183L	probably damaging	Het
Itga1	C	A	13: 115,171,921 (GRCm39)	W61C	probably damaging	Het
Itga5	T	C	15: 103,256,187 (GRCm39)	R922G	probably benign	Het
Itgb5	T	C	16: 33,705,391 (GRCm39)	V227A	possibly damaging	Het
Jph4	G	T	14: 55,347,165 (GRCm39)	P461T	probably damaging	Het
Kcnab1	T	A	3: 65,211,586 (GRCm39)		probably null	Het
Klrc1	T	A	6: 129,654,725 (GRCm39)		probably null	Het
Lonrf2	A	T	1: 38,855,119 (GRCm39)	L92Q	probably benign	Het
Ly75	T	C	2: 60,180,284 (GRCm39)	E631G	probably benign	Het
Mapk13	T	C	17: 28,994,528 (GRCm39)	Y140H	probably damaging	Het
Meak7	A	T	8: 120,495,093 (GRCm39)	S222T	probably benign	Het
Mgat4d	A	G	8: 84,084,749 (GRCm39)	E164G	probably damaging	Het
Mrtfa	C	T	15: 80,901,234 (GRCm39)	S419N	probably damaging	Het
Mtcl2	A	G	2: 156,862,172 (GRCm39)	S1586P	probably benign	Het
Mthfs	A	T	9: 89,122,078 (GRCm39)	H188L	probably benign	Het
Muc5b	T	A	7: 141,417,983 (GRCm39)	M3643K	possibly damaging	Het
Mylk3	T	C	8: 86,077,014 (GRCm39)	Y474C	probably damaging	Het
Myo5b	A	G	18: 74,877,701 (GRCm39)	T1567A	possibly damaging	Het
Ncaph2	T	G	15: 89,255,010 (GRCm39)	V478G	probably damaging	Het
Ncbp1	A	G	4: 46,152,967 (GRCm39)	R247G	possibly damaging	Het
Nedd9	T	C	13: 41,471,376 (GRCm39)	K208E	probably benign	Het
Nxph2	C	T	2: 23,289,870 (GRCm39)	T74M	probably benign	Het
Ogdh	T	A	11: 6,290,570 (GRCm39)	M385K	probably benign	Het
Or10a5	A	T	7: 106,636,121 (GRCm39)	Y253F	probably benign	Het
Or3a1c	A	T	11: 74,046,417 (GRCm39)	I146F	probably benign	Het
Or4a2	T	C	2: 89,248,235 (GRCm39)	H174R	probably damaging	Het
Or6a2	C	T	7: 106,600,542 (GRCm39)	G175D	probably damaging	Het
Or7g18	T	C	9: 18,787,475 (GRCm39)	V284A	probably damaging	Het
Or8b54	T	A	9: 38,686,670 (GRCm39)	F40I	probably benign	Het
Pcsk2	A	C	2: 143,655,345 (GRCm39)	I510L	probably benign	Het
Pdgfra	A	G	5: 75,349,972 (GRCm39)	N952S	probably benign	Het
Pex26	T	C	6: 121,170,516 (GRCm39)	F287S	probably damaging	Het
Pick1	G	C	15: 79,139,810 (GRCm39)		probably benign	Het
Plxnb1	G	T	9: 108,943,663 (GRCm39)	V1917L	probably damaging	Het
Polk	T	C	13: 96,625,764 (GRCm39)	T347A	probably benign	Het
Ppp1r10	T	G	17: 36,234,979 (GRCm39)	I61R	probably damaging	Het
Prex1	A	T	2: 166,434,211 (GRCm39)	L503Q	probably damaging	Het
Ptp4a1	A	C	1: 30,983,019 (GRCm39)	I133R	probably damaging	Het
Rassf10	G	T	7: 112,553,735 (GRCm39)	R112L	probably damaging	Het
Ripor3	T	A	2: 167,823,260 (GRCm39)	I884F	probably damaging	Het
Rnft2	A	G	5: 118,339,311 (GRCm39)	Y369H	probably damaging	Het
Rtp3	A	T	9: 110,815,522 (GRCm39)	V281E	probably benign	Het
Runx1t1	T	A	4: 13,837,767 (GRCm39)	N51K	probably damaging	Het
Selp	A	G	1: 163,972,475 (GRCm39)	T705A	probably benign	Het
Sgca	A	T	11: 94,861,553 (GRCm39)		probably null	Het
Slc22a3	T	C	17: 12,642,675 (GRCm39)	E514G	probably damaging	Het
Slc28a2b	T	A	2: 122,344,940 (GRCm39)	I182N	probably damaging	Het
Slc2a1	G	A	4: 118,989,642 (GRCm39)	R61Q	probably damaging	Het
Smarcal1	G	A	1: 72,636,599 (GRCm39)	V425I	probably benign	Het
Ssx2ip	T	C	3: 146,124,114 (GRCm39)	V43A	probably benign	Het
Synpo	A	G	18: 60,737,386 (GRCm39)	S187P	probably damaging	Het
Thnsl1	T	A	2: 21,216,856 (GRCm39)	C203*	probably null	Het
Ttyh3	A	T	5: 140,620,541 (GRCm39)	I232N	probably damaging	Het
Upk1b	T	C	16: 38,607,604 (GRCm39)	H41R	probably benign	Het
Vmn2r76	T	C	7: 85,879,652 (GRCm39)	D216G	possibly damaging	Het
Zan	A	T	5: 137,379,112 (GRCm39)	C5329*	probably null	Het
Zbtb40	C	T	4: 136,725,953 (GRCm39)	M535I	probably benign	Het
Zfp383	A	C	7: 29,614,263 (GRCm39)	T173P	possibly damaging	Het
Zfp7	T	A	15: 76,775,546 (GRCm39)	C529*	probably null	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
R1897:Isl1	UTSW	13	116,439,866 (GRCm39)	missense	probably benign	0.12
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
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'- TATGATTTAGCCCCGCCTGC -3'
(R):5'- CCAGGCAGGTCAGGTTTATG -3'

Sequencing Primer
(F):5'- AGGAGTACCTGCCATTTGC -3'
(R):5'- CAGGTCAGGTTTATGGCCCG -3'

Posted On

2016-02-04