Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02801:Isl2'

360213

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Isl2

Ensembl Gene

ENSMUSG00000032318

Gene Name

insulin related protein 2 (islet 2)

Synonyms

islet-2, 3110001N10Rik, islet 2

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02801

Quality Score

Status

Chromosome

Chromosomal Location

55445956-55453464 bp(+) (GRCm39)

Type of Mutation

splice site (2962 bp from exon)

DNA Base Change (assembly)

A to G at 55452816 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000139485 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034869] [ENSMUST00000037408] [ENSMUST00000114290] [ENSMUST00000164373] [ENSMUST00000214747] [ENSMUST00000175950]

AlphaFold

Q9CXV0

Predicted Effect

probably damaging
Transcript: ENSMUST00000034869
AA Change: E358G

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000034869
Gene: ENSMUSG00000032318
AA Change: E358G

Domain	Start	End	E-Value	Type
LIM	26	80	4.09e-11	SMART
LIM	88	142	2.67e-15	SMART
HOX	191	253	3.41e-20	SMART
low complexity region	323	336	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000037408

SMART Domains

Protein: ENSMUSP00000043411
Gene: ENSMUSG00000034007

Domain	Start	End	E-Value	Type
Pfam:SCAPER_N	88	185	3.4e-47	PFAM
low complexity region	323	338	N/A	INTRINSIC
coiled coil region	415	466	N/A	INTRINSIC
coiled coil region	535	597	N/A	INTRINSIC
SCOP:d1eq1a_	605	769	3e-6	SMART
ZnF_C2H2	791	815	1.16e1	SMART
low complexity region	866	883	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000114290

SMART Domains

Protein: ENSMUSP00000109929
Gene: ENSMUSG00000032318

Domain	Start	End	E-Value	Type
LIM	26	80	4.09e-11	SMART
low complexity region	123	141	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000164373

SMART Domains

Protein: ENSMUSP00000130638
Gene: ENSMUSG00000032318

Domain	Start	End	E-Value	Type
LIM	26	80	4.09e-11	SMART
low complexity region	123	141	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000165302

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000166637

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171441

Predicted Effect

probably benign
Transcript: ENSMUST00000214747

Predicted Effect

probably null
Transcript: ENSMUST00000175950

SMART Domains

Protein: ENSMUSP00000139485
Gene: ENSMUSG00000032318

Domain	Start	End	E-Value	Type
LIM	37	91	4.09e-11	SMART
LIM	99	152	1.53e-10	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mutations of this gene result in neonatal lethality, motor neuron migration defects and impaired visceral motor neuron differentiation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap5	A	T	12: 76,375,769 (GRCm39)	K400N	probably benign	Het
Aox1	A	T	1: 58,393,336 (GRCm39)	I1193F	probably damaging	Het
Arhgef16	A	T	4: 154,375,964 (GRCm39)	L10Q	probably damaging	Het
Arl10	T	C	13: 54,723,696 (GRCm39)	V106A	probably benign	Het
Bmi1	T	C	2: 18,686,692 (GRCm39)	Y24H	probably damaging	Het
Cd163	T	A	6: 124,297,488 (GRCm39)	I878K	probably benign	Het
Col12a1	A	G	9: 79,515,696 (GRCm39)		probably null	Het
Csmd2	T	C	4: 128,445,868 (GRCm39)		probably null	Het
Dcp2	G	T	18: 44,550,778 (GRCm39)	M417I	probably damaging	Het
Ddx11	T	A	17: 66,455,028 (GRCm39)	C662S	probably benign	Het
Dhx29	G	A	13: 113,101,180 (GRCm39)	C1241Y	probably damaging	Het
Dnajc6	C	T	4: 101,455,010 (GRCm39)	P37L	probably benign	Het
Dqx1	A	G	6: 83,037,476 (GRCm39)		probably null	Het
Dzip1	T	A	14: 119,123,067 (GRCm39)	K643*	probably null	Het
Ecel1	A	G	1: 87,079,725 (GRCm39)	S463P	probably damaging	Het
Eml5	A	G	12: 98,784,104 (GRCm39)	V1361A	possibly damaging	Het
Fads2	C	A	19: 10,060,009 (GRCm39)	A222S	possibly damaging	Het
Fancd2	A	G	6: 113,570,278 (GRCm39)	N1410D	probably benign	Het
Fbxw16	A	G	9: 109,270,144 (GRCm39)	F199S	possibly damaging	Het
Frem2	A	G	3: 53,559,596 (GRCm39)	V1637A	possibly damaging	Het
Gabrg2	A	G	11: 41,803,220 (GRCm39)	S442P	probably damaging	Het
Gprin3	T	C	6: 59,331,966 (GRCm39)	T114A	possibly damaging	Het
Hoxd8	A	G	2: 74,536,912 (GRCm39)	E27G	probably damaging	Het
Lamc2	T	A	1: 153,012,529 (GRCm39)	H715L	probably benign	Het
Lrif1	T	C	3: 106,641,930 (GRCm39)	V102A	possibly damaging	Het
Lrrc39	A	G	3: 116,371,995 (GRCm39)	N254S	possibly damaging	Het
Med13l	T	C	5: 118,883,178 (GRCm39)	W1346R	probably damaging	Het
Melk	T	C	4: 44,360,930 (GRCm39)	I570T	probably damaging	Het
Mlkl	G	A	8: 112,043,064 (GRCm39)	T361M	probably benign	Het
Myo1f	T	A	17: 33,797,111 (GRCm39)	M94K	probably damaging	Het
Naip1	A	G	13: 100,580,876 (GRCm39)	C124R	probably damaging	Het
Nek1	G	A	8: 61,574,095 (GRCm39)		probably null	Het
Nrn1	C	A	13: 36,914,080 (GRCm39)		probably null	Het
Pde1c	G	T	6: 56,150,651 (GRCm39)	N289K	probably damaging	Het
Pfas	G	A	11: 68,879,103 (GRCm39)		probably benign	Het
Pms2	A	T	5: 143,862,653 (GRCm39)	I587F	probably benign	Het
Ppargc1b	T	C	18: 61,440,755 (GRCm39)	E721G	possibly damaging	Het
Ppp2r1b	A	G	9: 50,790,127 (GRCm39)	I435V	probably benign	Het
Psip1	C	T	4: 83,376,357 (GRCm39)	S494N	probably benign	Het
Ranbp3	T	C	17: 57,017,766 (GRCm39)	V474A	probably benign	Het
Rnf220	C	T	4: 117,130,448 (GRCm39)	C259Y	probably damaging	Het
Sdr16c6	T	C	4: 4,076,603 (GRCm39)	I99V	probably benign	Het
Slc36a1	A	T	11: 55,116,879 (GRCm39)	I303F	probably benign	Het
Slc4a1	C	T	11: 102,249,972 (GRCm39)		probably null	Het
Syncrip	A	T	9: 88,361,862 (GRCm39)	D84E	probably damaging	Het
Tbc1d9b	T	C	11: 50,043,657 (GRCm39)	Y593H	probably damaging	Het
Tenm2	G	T	11: 35,937,857 (GRCm39)	Y1605*	probably null	Het
Tmem135	T	A	7: 88,803,333 (GRCm39)	H280L	probably benign	Het
Tmem229a	T	A	6: 24,955,121 (GRCm39)	Q211L	probably benign	Het
Txlna	T	C	4: 129,534,201 (GRCm39)	D5G	probably damaging	Het
Vmn2r57	T	C	7: 41,098,056 (GRCm39)	I4V	probably benign	Het
Wdfy3	A	G	5: 102,055,453 (GRCm39)	L1539S	probably damaging	Het
Zdhhc14	T	G	17: 5,777,094 (GRCm39)		probably null	Het

Other mutations in Isl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00332:Isl2	APN	9	55,452,253 (GRCm39)	missense	possibly damaging	0.90
IGL01123:Isl2	APN	9	55,452,746 (GRCm39)	missense	probably damaging	1.00
IGL01773:Isl2	APN	9	55,451,504 (GRCm39)	missense	probably damaging	1.00
R0578:Isl2	UTSW	9	55,452,319 (GRCm39)	missense	probably damaging	0.99
R3737:Isl2	UTSW	9	55,449,754 (GRCm39)	missense	probably benign	0.17
R4035:Isl2	UTSW	9	55,449,754 (GRCm39)	missense	probably benign	0.17
R4750:Isl2	UTSW	9	55,451,596 (GRCm39)	missense	probably benign	0.21
R4851:Isl2	UTSW	9	55,452,271 (GRCm39)	missense	possibly damaging	0.64
R5107:Isl2	UTSW	9	55,449,570 (GRCm39)	missense	probably benign	0.17
R5181:Isl2	UTSW	9	55,449,561 (GRCm39)	missense	probably benign	0.33
R6724:Isl2	UTSW	9	55,448,572 (GRCm39)	missense	possibly damaging	0.92
R7235:Isl2	UTSW	9	55,451,455 (GRCm39)	missense	probably benign
R7418:Isl2	UTSW	9	55,451,636 (GRCm39)	missense	probably benign	0.00
R7457:Isl2	UTSW	9	55,452,240 (GRCm39)	missense	probably benign	0.03
R7632:Isl2	UTSW	9	55,448,440 (GRCm39)	splice site	probably null
R7705:Isl2	UTSW	9	55,449,685 (GRCm39)	missense	probably benign	0.03
R7898:Isl2	UTSW	9	55,449,723 (GRCm39)	missense	probably benign	0.18
R8266:Isl2	UTSW	9	55,451,408 (GRCm39)	missense	probably benign	0.00
R8409:Isl2	UTSW	9	55,449,784 (GRCm39)	missense	possibly damaging	0.61
R8738:Isl2	UTSW	9	55,452,722 (GRCm39)	missense	probably benign	0.00
R9168:Isl2	UTSW	9	55,452,227 (GRCm39)	missense	probably benign	0.02
X0067:Isl2	UTSW	9	55,449,555 (GRCm39)	missense	probably damaging	1.00
Z1176:Isl2	UTSW	9	55,449,499 (GRCm39)	nonsense	probably null

Posted On

2015-12-18