Mutagenetix > Incidental Mutation

Incidental Mutation 'R9614:Isl1'

724469

Institutional Source

Beutler Lab

Gene Symbol

Isl1

Ensembl Gene

ENSMUSG00000042258

Gene Name

ISL1 transcription factor, LIM/homeodomain

Synonyms

Islet 1

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9614 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

116434817-116446225 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 116441924 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 103 (E103G)

Ref Sequence

ENSEMBL: ENSMUSP00000044879 (fasta)

Gene Model

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

AlphaFold

P61372

PDB Structure

Crystal Structure of Lhx3 LIM domains 1 and 2 with the binding domain of Isl1 [X-RAY DIFFRACTION]
Crystal structure of Isl1 LIM domains with Ldb1 LIM-interaction domain [X-RAY DIFFRACTION]

Predicted Effect

SMART Domains

Protein: ENSMUSP00000044879
Gene: ENSMUSG00000042258
AA Change: E103G

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

possibly damaging
Transcript: ENSMUST00000176044
AA Change: E103G

PolyPhen 2 Score 0.774 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000135567
Gene: ENSMUSG00000042258
AA Change: E103G

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810055G02Rik	C	T	19: 3,767,364 (GRCm39)	T317I	possibly damaging	Het
Adamts7	T	A	9: 90,077,251 (GRCm39)	V1306E	probably damaging	Het
Adcy9	C	T	16: 4,106,547 (GRCm39)	D1093N	probably damaging	Het
Adgra3	A	G	5: 50,164,250 (GRCm39)	V243A	probably damaging	Het
Aqp4	C	T	18: 15,526,687 (GRCm39)	A265T	probably benign	Het
Atad2	A	T	15: 57,970,119 (GRCm39)		probably null	Het
Atp13a4	A	G	16: 29,260,398 (GRCm39)	V560A		Het
Best2	A	C	8: 85,740,051 (GRCm39)	C38G		Het
Bicra	A	T	7: 15,705,880 (GRCm39)	S1520R	probably damaging	Het
C1s2	A	G	6: 124,602,588 (GRCm39)	L541P	probably damaging	Het
Calcoco2	T	A	11: 95,991,185 (GRCm39)	H184L	probably benign	Het
Cav1	A	T	6: 17,339,403 (GRCm39)	I163F	probably benign	Het
Cep57l1	T	C	10: 41,597,563 (GRCm39)	H356R	probably damaging	Het
Clu	A	C	14: 66,208,851 (GRCm39)	H32P	unknown	Het
Col5a1	T	A	2: 27,879,186 (GRCm39)	D840E	unknown	Het
Cramp1	C	A	17: 25,201,783 (GRCm39)	K566N	probably damaging	Het
Csmd1	C	A	8: 16,208,239 (GRCm39)	V1239L	probably benign	Het
Cubn	T	A	2: 13,482,945 (GRCm39)	Q267L	probably benign	Het
Cul7	C	T	17: 46,975,212 (GRCm39)	R1689W	probably damaging	Het
Dao	A	T	5: 114,152,060 (GRCm39)	D126V	probably benign	Het
Eif3l	T	C	15: 78,978,423 (GRCm39)	M560T	probably benign	Het
F830016B08Rik	T	A	18: 60,433,379 (GRCm39)	I154N	probably damaging	Het
Fam184a	T	C	10: 53,517,144 (GRCm39)	E980G	probably damaging	Het
Fgf21	T	C	7: 45,264,703 (GRCm39)	T10A	probably benign	Het
Fhad1	A	C	4: 141,678,882 (GRCm39)	V598G	possibly damaging	Het
Foxc1	A	T	13: 31,991,863 (GRCm39)	I225F	possibly damaging	Het
Foxo3	C	T	10: 42,073,021 (GRCm39)	V499M	probably damaging	Het
Galnt9	G	A	5: 110,744,047 (GRCm39)	G294S	probably damaging	Het
Gp5	A	C	16: 30,128,393 (GRCm39)	F94V	probably damaging	Het
Idh2	A	T	7: 79,747,925 (GRCm39)	Y258*	probably null	Het
Immp2l	T	C	12: 41,160,933 (GRCm39)	V77A	probably damaging	Het
Itgad	A	T	7: 127,803,022 (GRCm39)	T1059S	probably damaging	Het
Kcnj6	G	A	16: 94,633,307 (GRCm39)	T268I	probably damaging	Het
Lgals3bp	A	G	11: 118,284,037 (GRCm39)	V514A	probably benign	Het
Mcfd2	A	T	17: 87,565,421 (GRCm39)	H27Q	probably benign	Het
Mettl13	A	G	1: 162,364,769 (GRCm39)	W537R	probably damaging	Het
Mybl2	G	T	2: 162,906,225 (GRCm39)	G102V	probably damaging	Het
Nars2	C	T	7: 96,689,125 (GRCm39)	T349M	probably damaging	Het
Nat8f3	A	T	6: 85,738,708 (GRCm39)	V18E		Het
Npepps	T	C	11: 97,149,177 (GRCm39)	E115G	probably benign	Het
Odad3	T	C	9: 21,904,310 (GRCm39)	D322G	probably benign	Het
Oog2	T	A	4: 143,922,707 (GRCm39)	V324E	probably damaging	Het
Or2y12	T	A	11: 49,426,071 (GRCm39)	W20R	probably damaging	Het
Or7g12	A	T	9: 18,899,526 (GRCm39)	M81L	possibly damaging	Het
Or8d2b	G	A	9: 38,789,281 (GRCm39)	V270M	probably damaging	Het
Or8j3b	A	G	2: 86,205,012 (GRCm39)	V248A	probably damaging	Het
Pdzd2	A	G	15: 12,375,486 (GRCm39)	S1550P	probably damaging	Het
Peg10	T	TCCC	6: 4,756,451 (GRCm39)		probably benign	Het
Pms2	T	C	5: 143,854,420 (GRCm39)	V243A	probably benign	Het
Ptpn9	A	G	9: 56,944,005 (GRCm39)	D293G	probably benign	Het
Ptprb	A	G	10: 116,203,441 (GRCm39)	K1784R	probably damaging	Het
Rab23	CAA	CA	1: 33,764,077 (GRCm39)		probably null	Het
Raf1	T	C	6: 115,596,597 (GRCm39)	N576D	probably benign	Het
Rasa4	C	A	5: 136,140,343 (GRCm39)	H782Q	possibly damaging	Het
Rims1	C	A	1: 22,491,969 (GRCm39)	E168*	probably null	Het
Rpgrip1l	A	T	8: 91,987,434 (GRCm39)	N874K	possibly damaging	Het
Rxfp4	C	T	3: 88,559,969 (GRCm39)	V161I	possibly damaging	Het
Scel	G	A	14: 103,843,032 (GRCm39)	G558D	probably damaging	Het
Sipa1l2	T	C	8: 126,196,565 (GRCm39)	K723R	probably null	Het
Slc12a1	A	T	2: 125,002,445 (GRCm39)	R142W	probably damaging	Het
Slc27a2	T	A	2: 126,409,736 (GRCm39)	V306D	probably damaging	Het
Sox4	C	T	13: 29,136,079 (GRCm39)	G309D	probably damaging	Het
Terb1	T	C	8: 105,223,476 (GRCm39)	T111A	probably benign	Het
Tgfa	G	A	6: 86,248,397 (GRCm39)	R133H	probably damaging	Het
Ticrr	T	C	7: 79,345,754 (GRCm39)	S1836P	probably damaging	Het
Tlk2	A	G	11: 105,138,328 (GRCm39)	D292G	probably benign	Het
Tmc7	A	G	7: 118,141,160 (GRCm39)	I657T	probably benign	Het
Tmprss11c	G	A	5: 86,383,379 (GRCm39)	T349I	probably benign	Het
Trhr	A	G	15: 44,060,981 (GRCm39)	N167S	probably benign	Het
Tsc22d1	T	G	14: 76,653,983 (GRCm39)	I154S	probably damaging	Het
Vmn1r2	T	C	4: 3,172,587 (GRCm39)	Y169H	probably damaging	Het
Vmn1r77	G	T	7: 11,775,766 (GRCm39)	V181L	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
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
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

Predicted Primers

PCR Primer
(F):5'- TTATGATTTAGCCCCGCCTG -3'
(R):5'- TGGCCATCTTGGGACAGAAC -3'

Sequencing Primer
(F):5'- CTCTGGGTGGAGGAGTACC -3'
(R):5'- ATCTTGGGACAGAACCTGCCTG -3'

Posted On

2022-09-12