Mutagenetix > Incidental Mutations

Incidental Mutation 'R4677:Islr'

349673

Institutional Source

Beutler Lab

Gene Symbol

Islr

Ensembl Gene

ENSMUSG00000037206

Gene Name

immunoglobulin superfamily containing leucine-rich repeat

Synonyms

MMRRC Submission

042014-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.160) question?

Stock #

R4677 (G1)

Quality Score

129

Status

Validated

Chromosome

Chromosomal Location

58156268-58204306 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 58157359 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 288 (D288E)

Ref Sequence

ENSEMBL: ENSMUSP00000126963 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034880] [ENSMUST00000041477] [ENSMUST00000085677] [ENSMUST00000167479] [ENSMUST00000168864] [ENSMUST00000170397] [ENSMUST00000217578]

Predicted Effect

probably benign
Transcript: ENSMUST00000034880

SMART Domains

Protein: ENSMUSP00000034880
Gene: ENSMUSG00000032327

Domain	Start	End	E-Value	Type
Pfam:RBP_receptor	40	659	1.6e-253	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000041477
AA Change: D288E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000045142
Gene: ENSMUSG00000037206
AA Change: D288E

Domain	Start	End	E-Value	Type
low complexity region	3	16	N/A	INTRINSIC
LRRNT	18	54	3.32e-1	SMART
LRR	50	72	1.49e1	SMART
LRR	73	96	5.26e0	SMART
LRR	97	120	1.86e1	SMART
LRR_TYP	121	144	5.81e-2	SMART
LRR_TYP	145	168	5.21e-4	SMART
LRRCT	180	230	2.42e-9	SMART
IGc2	248	334	9.78e-7	SMART
low complexity region	408	426	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000085677

SMART Domains

Protein: ENSMUSP00000082820
Gene: ENSMUSG00000032327

Domain	Start	End	E-Value	Type
Pfam:RBP_receptor	41	658	1.9e-248	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000167479

SMART Domains

Protein: ENSMUSP00000128417
Gene: ENSMUSG00000032327

Domain	Start	End	E-Value	Type
Pfam:RBP_receptor	40	659	1.6e-253	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000168864
AA Change: D288E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000126963
Gene: ENSMUSG00000037206
AA Change: D288E

Domain	Start	End	E-Value	Type
low complexity region	3	16	N/A	INTRINSIC
LRRNT	18	54	3.32e-1	SMART
LRR	50	72	1.49e1	SMART
LRR	73	96	5.26e0	SMART
LRR	97	120	1.86e1	SMART
LRR_TYP	121	144	5.81e-2	SMART
LRR_TYP	145	168	5.21e-4	SMART
LRRCT	180	230	2.42e-9	SMART
IGc2	248	334	9.78e-7	SMART
low complexity region	408	426	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000170397

SMART Domains

Protein: ENSMUSP00000130232
Gene: ENSMUSG00000032327

Domain	Start	End	E-Value	Type
Pfam:RBP_receptor	40	659	1.6e-253	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000217578

Meta Mutation Damage Score

0.2283

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

Validation Efficiency

100% (85/85)

MGI Phenotype

PHENOTYPE: The gene product suppresses differentiation of bone marrow stromal and skeletal stem cells into skeletal lineages. Homozygous knockout leads to growth retardation and longer long bones. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1190002N15Rik	A	T	9: 94,520,404	C402S	probably damaging	Het
Adamts9	T	C	6: 92,816,606	M1T	probably null	Het
Akap3	T	C	6: 126,865,263	S282P	probably damaging	Het
Anxa10	A	G	8: 62,063,020	I206T	probably damaging	Het
Apobec3	A	G	15: 79,895,512	D52G	probably damaging	Het
Arl6	A	T	16: 59,618,865		probably null	Het
BC067074	A	G	13: 113,379,486	T145A	unknown	Het
Calcoco1	T	C	15: 102,717,894	E87G	probably damaging	Het
Ccdc88b	C	A	19: 6,848,268	A1206S	probably damaging	Het
Ccpg1	A	G	9: 73,015,915		probably benign	Het
Cdon	A	G	9: 35,478,605	N852D	probably damaging	Het
Cobl	T	A	11: 12,386,665	Q41L	possibly damaging	Het
Dcdc2b	T	C	4: 129,614,143	T39A	probably damaging	Het
Ddx55	A	T	5: 124,567,934	D474V	probably benign	Het
Dnah17	A	G	11: 118,119,814	L521P	probably damaging	Het
Exoc1	A	G	5: 76,559,163	D497G	probably null	Het
Fam151a	A	G	4: 106,748,259	E606G	possibly damaging	Het
Fbxw11	T	A	11: 32,742,535	L502*	probably null	Het
Fcrl1	A	G	3: 87,390,256	S337G	possibly damaging	Het
G6pc	C	A	11: 101,376,613	F296L	probably benign	Het
Gm17472	C	A	6: 42,980,875	T26N	probably damaging	Het
Gm9573	T	A	17: 35,619,707		probably benign	Het
Grin2b	A	G	6: 135,774,872	V564A	probably benign	Het
H2-Ob	T	C	17: 34,242,644	I119T	probably benign	Het
Hhip	A	G	8: 80,045,097	Y195H	probably damaging	Het
Igkc	A	T	6: 70,726,678		probably benign	Het
Kdelr1	A	G	7: 45,873,773	S36G	probably benign	Het
Lama5	G	T	2: 180,179,366	H3134Q	possibly damaging	Het
Lor	A	G	3: 92,081,743	Y79H	unknown	Het
Lrp1b	A	G	2: 40,801,484	F3327S	probably damaging	Het
Lrrc41	C	T	4: 116,095,135	H637Y	probably benign	Het
Map2k6	C	T	11: 110,399,394		probably benign	Het
Mcm3ap	T	G	10: 76,470,570	F172L	probably damaging	Het
Muc19	G	A	15: 91,888,217		noncoding transcript	Het
Muc6	T	A	7: 141,639,790		probably benign	Het
Nek1	A	T	8: 61,028,806	I252L	probably damaging	Het
Nrg2	A	T	18: 36,021,099	H588Q	possibly damaging	Het
Nt5dc2	T	C	14: 31,138,921	V351A	possibly damaging	Het
Olfr1030	A	G	2: 85,983,971	T44A	possibly damaging	Het
Olfr1046	A	T	2: 86,217,688	S7R	probably benign	Het
Olfr340	A	G	2: 36,453,050	N155S	probably benign	Het
Olfr64	T	C	7: 103,893,408	E109G	probably damaging	Het
Pde3a	A	G	6: 141,466,139	N480D	probably benign	Het
Pde6c	A	G	19: 38,157,385	K374E	probably damaging	Het
Pdhx	G	A	2: 103,073,466		probably null	Het
Pi4ka	A	G	16: 17,282,373	Y1888H	probably damaging	Het
Pnpla2	T	A	7: 141,458,443	M203K	probably damaging	Het
Prrc2c	C	T	1: 162,705,179		probably benign	Het
Ptcd3	G	T	6: 71,893,514	H321N	probably benign	Het
Ptprt	A	G	2: 161,901,446		probably null	Het
Ptx4	A	G	17: 25,123,126	T192A	probably benign	Het
Qars	A	G	9: 108,509,690		probably benign	Het
Ralgapa2	G	A	2: 146,345,467	P1372S	possibly damaging	Het
Rps6ka4	G	T	19: 6,839,486	T107K	probably damaging	Het
Rsf1	A	G	7: 97,680,773	T1169A	possibly damaging	Het
Ryr2	C	A	13: 11,706,667	W2626L	probably damaging	Het
Scn4a	C	T	11: 106,323,962	V1270I	probably damaging	Het
Serpinb9b	T	C	13: 33,039,823	S333P	probably damaging	Het
Sned1	A	G	1: 93,296,297		probably benign	Het
Sult1c2	C	T	17: 53,830,109	V262M	possibly damaging	Het
Tll1	A	T	8: 64,051,377	F662I	probably benign	Het
Tmem161a	A	T	8: 70,180,947		probably null	Het
Top1mt	A	C	15: 75,664,058	V465G	possibly damaging	Het
Trcg1	A	G	9: 57,245,861	K596E	possibly damaging	Het
Trim27	T	A	13: 21,180,916		probably null	Het
Trpm3	A	G	19: 22,987,388	I1406V	possibly damaging	Het
Tssc4	T	A	7: 143,070,509	S254T	probably damaging	Het
Ttc7	C	A	17: 87,370,735		probably benign	Het
Usp30	A	G	5: 114,119,644	T288A	probably damaging	Het
Usp48	C	A	4: 137,616,381	R441S	probably benign	Het
Vmn1r29	T	C	6: 58,307,300	S2P	probably benign	Het
Vmn2r65	T	A	7: 84,963,874	I46L	possibly damaging	Het
Zeb1	A	T	18: 5,766,775	I429F	probably damaging	Het
Zfp943	A	G	17: 21,993,195	R421G	probably benign	Het

Other mutations in Islr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01012:Islr	APN	9	58157228	missense	probably damaging	1.00
IGL02169:Islr	APN	9	58158132	missense	possibly damaging	0.92
IGL02369:Islr	APN	9	58157624	missense	probably damaging	1.00
IGL02930:Islr	APN	9	58158200	unclassified	probably benign
PIT4581001:Islr	UTSW	9	58157201	missense	possibly damaging	0.92
R1121:Islr	UTSW	9	58157762	missense	probably benign	0.21
R1470:Islr	UTSW	9	58157306	missense	probably damaging	1.00
R1470:Islr	UTSW	9	58157306	missense	probably damaging	1.00
R1638:Islr	UTSW	9	58158219	unclassified	probably benign
R1699:Islr	UTSW	9	58157495	missense	probably damaging	1.00
R4360:Islr	UTSW	9	58157604	missense	probably damaging	1.00
R4707:Islr	UTSW	9	58157687	missense	possibly damaging	0.75
R4856:Islr	UTSW	9	58157606	missense	probably damaging	0.99
R5354:Islr	UTSW	9	58157612	missense	probably damaging	1.00
R6343:Islr	UTSW	9	58157096	missense	probably damaging	1.00
R6768:Islr	UTSW	9	58157610	missense	possibly damaging	0.75
R7050:Islr	UTSW	9	58157717	missense	probably damaging	1.00
R7216:Islr	UTSW	9	58156967	missense	unknown
R8209:Islr	UTSW	9	58158057	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- ACTGCTTTGCCATGGAACTTG -3'
(R):5'- CAGCTCCCTCAGTGCAACTAAG -3'

Sequencing Primer
(F):5'- ATGGAACTTGTGCCCCACAG -3'
(R):5'- TCAGTGCAACTAAGCTACCAG -3'

Posted On

2015-10-08