Mutagenetix > Incidental Mutation

Incidental Mutation 'R8806:Islr'

672070

Institutional Source

Beutler Lab

Gene Symbol

Islr

Ensembl Gene

ENSMUSG00000037206

Gene Name

immunoglobulin superfamily containing leucine-rich repeat

Synonyms

MMRRC Submission

068612-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.126) question?

Stock #

R8806 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

58063547-58066563 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 58064256 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Valine at position 417 (G417V)

Ref Sequence

ENSEMBL: ENSMUSP00000045142 (fasta)

Gene Model

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

AlphaFold

Q6GU68

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

unknown
Transcript: ENSMUST00000041477
AA Change: G417V

SMART Domains

Protein: ENSMUSP00000045142
Gene: ENSMUSG00000037206
AA Change: G417V

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

unknown
Transcript: ENSMUST00000168864
AA Change: G417V

SMART Domains

Protein: ENSMUSP00000126963
Gene: ENSMUSG00000037206
AA Change: G417V

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.4%

Validation Efficiency

100% (66/66)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	T	C	4: 53,084,520 (GRCm39)	M586V	probably benign	Het
Adam6b	G	A	12: 113,455,418 (GRCm39)	R745H	possibly damaging	Het
Afg3l1	A	G	8: 124,220,657 (GRCm39)	D462G	probably damaging	Het
Anapc1	T	A	2: 128,464,333 (GRCm39)	Q1721L	possibly damaging	Het
Arhgap11a	T	C	2: 113,665,107 (GRCm39)	Y497C	possibly damaging	Het
Bcl7b	T	G	5: 135,208,824 (GRCm39)	S96A	possibly damaging	Het
Birc6	T	C	17: 74,949,311 (GRCm39)	V3111A	probably damaging	Het
Cbx1	A	G	11: 96,692,383 (GRCm39)	D90G	possibly damaging	Het
Cdkl3	T	C	11: 51,923,295 (GRCm39)	F524S	possibly damaging	Het
Cops7b	G	A	1: 86,517,031 (GRCm39)	G44R	probably damaging	Het
D130043K22Rik	A	G	13: 25,083,618 (GRCm39)	S1028G	probably benign	Het
Decr1	T	A	4: 15,945,351 (GRCm39)	M1L	probably benign	Het
Dmtn	T	C	14: 70,852,388 (GRCm39)	I167V	probably benign	Het
Dnah9	A	G	11: 65,750,309 (GRCm39)	L3932P	probably damaging	Het
Ece1	T	A	4: 137,672,452 (GRCm39)	I365N	probably damaging	Het
Efcab3	T	A	11: 104,928,695 (GRCm39)	M4815K	probably benign	Het
Exo5	T	C	4: 120,779,602 (GRCm39)	T88A	probably benign	Het
Frem3	T	C	8: 81,390,064 (GRCm39)	Y1772H	probably benign	Het
Gm5160	A	G	18: 14,557,931 (GRCm39)	N3D	possibly damaging	Het
Gm7138	T	A	10: 77,612,717 (GRCm39)	D21V	unknown	Het
Gm7298	C	A	6: 121,761,641 (GRCm39)		silent	Het
Gucy2e	A	G	11: 69,126,942 (GRCm39)	V177A	probably benign	Het
Kif13a	A	T	13: 46,914,813 (GRCm39)	M1458K	possibly damaging	Het
Mcm7	T	C	5: 138,163,347 (GRCm39)	D642G	possibly damaging	Het
Med24	A	T	11: 98,595,970 (GRCm39)	I941N	probably damaging	Het
Mrgprb8	C	T	7: 48,038,976 (GRCm39)	P216S	possibly damaging	Het
Myo5c	T	A	9: 75,150,054 (GRCm39)	V13D	probably damaging	Het
N4bp2	T	A	5: 65,965,551 (GRCm39)	I1200K	possibly damaging	Het
Naip6	G	A	13: 100,437,161 (GRCm39)	T454M	possibly damaging	Het
Nfkb1	T	C	3: 135,295,213 (GRCm39)	Y877C	probably damaging	Het
Nolc1	C	A	19: 46,071,471 (GRCm39)	S473R	unknown	Het
Nop16	A	C	13: 54,737,672 (GRCm39)		probably benign	Het
Nr3c2	T	C	8: 77,969,092 (GRCm39)	I959T	probably damaging	Het
Nup88	T	G	11: 70,834,941 (GRCm39)	K692N	probably benign	Het
Nvl	C	A	1: 180,922,619 (GRCm39)	G818V	probably benign	Het
Or1i2	G	T	10: 78,447,974 (GRCm39)	T167N	probably benign	Het
Or4k6	T	A	14: 50,475,376 (GRCm39)	E322V	probably benign	Het
Or4n4	A	G	14: 50,519,236 (GRCm39)	I158T	probably benign	Het
Or4s2b	T	C	2: 88,508,955 (GRCm39)	V245A	probably benign	Het
Or8b49	A	T	9: 38,506,405 (GRCm39)	D296V	probably damaging	Het
Or8k1	T	C	2: 86,047,200 (GRCm39)	I285V	probably damaging	Het
Plxnc1	G	A	10: 94,635,140 (GRCm39)	S1362L	probably damaging	Het
Ppfia2	C	T	10: 106,694,114 (GRCm39)	A696V	probably damaging	Het
Prl	A	G	13: 27,243,515 (GRCm39)	Y62C	probably damaging	Het
Rnf135	A	G	11: 80,089,762 (GRCm39)	D366G	probably damaging	Het
Rrp8	A	G	7: 105,384,244 (GRCm39)	L86P	probably damaging	Het
Rsph4a	T	C	10: 33,785,445 (GRCm39)	V452A	probably damaging	Het
Runx2	C	A	17: 44,950,570 (GRCm39)	V410L	probably benign	Het
Samd9l	T	C	6: 3,376,665 (GRCm39)	T199A	probably damaging	Het
Sik3	T	C	9: 46,120,365 (GRCm39)	S745P	probably damaging	Het
Slc35e1	T	A	8: 73,241,973 (GRCm39)	S250C	probably damaging	Het
Snx31	A	G	15: 36,537,698 (GRCm39)	F160S	probably damaging	Het
Spata31g1	A	G	4: 42,971,261 (GRCm39)	D198G	probably benign	Het
Stim2	T	A	5: 54,156,257 (GRCm39)	V11E	probably benign	Het
Tektl1	A	G	10: 78,588,306 (GRCm39)	V168A	probably damaging	Het
Tmem135	G	C	7: 88,797,186 (GRCm39)	L357V	probably benign	Het
Tox4	T	C	14: 52,524,318 (GRCm39)	S151P	probably damaging	Het
Trim34b	A	T	7: 103,985,319 (GRCm39)	D318V	probably damaging	Het
Ubtd1	T	C	19: 42,022,195 (GRCm39)	S156P	probably damaging	Het
Usp34	C	A	11: 23,434,143 (GRCm39)	L3240M		Het
Vmn1r56	T	C	7: 5,198,805 (GRCm39)	S271G	probably damaging	Het
Vps13b	T	C	15: 35,472,212 (GRCm39)		probably benign	Het
Vps13c	T	C	9: 67,853,110 (GRCm39)	F2401S	probably damaging	Het
Zbtb11	G	A	16: 55,802,637 (GRCm39)	V216I	probably damaging	Het
Zfp931	T	C	2: 177,709,589 (GRCm39)	T266A	possibly damaging	Het
Zfp956	A	G	6: 47,933,042 (GRCm39)	M106V	probably benign	Het

Other mutations in Islr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01012:Islr	APN	9	58,064,511 (GRCm39)	missense	probably damaging	1.00
IGL02169:Islr	APN	9	58,065,415 (GRCm39)	missense	possibly damaging	0.92
IGL02369:Islr	APN	9	58,064,907 (GRCm39)	missense	probably damaging	1.00
IGL02930:Islr	APN	9	58,065,483 (GRCm39)	unclassified	probably benign
PIT4581001:Islr	UTSW	9	58,064,484 (GRCm39)	missense	possibly damaging	0.92
R1121:Islr	UTSW	9	58,065,045 (GRCm39)	missense	probably benign	0.21
R1470:Islr	UTSW	9	58,064,589 (GRCm39)	missense	probably damaging	1.00
R1470:Islr	UTSW	9	58,064,589 (GRCm39)	missense	probably damaging	1.00
R1638:Islr	UTSW	9	58,065,502 (GRCm39)	unclassified	probably benign
R1699:Islr	UTSW	9	58,064,778 (GRCm39)	missense	probably damaging	1.00
R4360:Islr	UTSW	9	58,064,887 (GRCm39)	missense	probably damaging	1.00
R4677:Islr	UTSW	9	58,064,642 (GRCm39)	missense	probably damaging	1.00
R4707:Islr	UTSW	9	58,064,970 (GRCm39)	missense	possibly damaging	0.75
R4856:Islr	UTSW	9	58,064,889 (GRCm39)	missense	probably damaging	0.99
R5354:Islr	UTSW	9	58,064,895 (GRCm39)	missense	probably damaging	1.00
R6343:Islr	UTSW	9	58,064,379 (GRCm39)	missense	probably damaging	1.00
R6768:Islr	UTSW	9	58,064,893 (GRCm39)	missense	possibly damaging	0.75
R7050:Islr	UTSW	9	58,065,000 (GRCm39)	missense	probably damaging	1.00
R7216:Islr	UTSW	9	58,064,250 (GRCm39)	missense	unknown
R8209:Islr	UTSW	9	58,065,340 (GRCm39)	missense	probably damaging	0.99
R9235:Islr	UTSW	9	58,064,944 (GRCm39)	missense	possibly damaging	0.57

Predicted Primers

PCR Primer
(F):5'- CAAATTGGAGTAATGAGCGGCC -3'
(R):5'- TTCCATGGCAAAGCAGTGGAG -3'

Sequencing Primer
(F):5'- AGCGGCCTGGATGAGCTTAG -3'
(R):5'- CAGTGGAGGGCAAGGGCTG -3'

Posted On

2021-04-30