Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02472:Siglec15'

294782

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Siglec15

Ensembl Gene

ENSMUSG00000091055

Gene Name

sialic acid binding Ig-like lectin 15

Synonyms

Cd33l3, EG620235

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02472

Quality Score

Status

Chromosome

Chromosomal Location

78043614-78057395 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 78043617 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 342 (K342N)

Ref Sequence

ENSEMBL: ENSMUSP00000126901 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000170760]

AlphaFold

A7E1W8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000170760
AA Change: K342N

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000126901
Gene: ENSMUSG00000091055
AA Change: K342N

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
IG	49	165	8.51e-7	SMART
SCOP:d1wwca_	167	258	8e-10	SMART
Blast:IG_like	171	254	1e-47	BLAST
transmembrane domain	260	282	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a targeted allele exhibit impaired osteoclast differentiation and function and mild osteopetrosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110038F14Rik	A	G	15: 76,950,378 (GRCm38)	N158S	probably damaging	Het
Ankrd17	A	C	5: 90,264,151 (GRCm38)	L1285V	probably damaging	Het
Atp8b2	G	A	3: 89,954,239 (GRCm38)	T267I	probably damaging	Het
Becn1	C	T	11: 101,291,398 (GRCm38)	G115D	probably benign	Het
Cd3eap	T	C	7: 19,359,105 (GRCm38)	D50G	probably damaging	Het
Cdc45	C	T	16: 18,798,729 (GRCm38)	M200I	probably benign	Het
Chd6	A	C	2: 160,984,452 (GRCm38)		probably benign	Het
Col22a1	A	G	15: 71,827,753 (GRCm38)		probably benign	Het
Csgalnact1	C	A	8: 68,401,492 (GRCm38)	G219V	probably damaging	Het
Dnm2	A	G	9: 21,485,708 (GRCm38)	I494V	possibly damaging	Het
Dock2	T	A	11: 34,249,801 (GRCm38)	E1416D	probably benign	Het
Eif2ak1	A	G	5: 143,884,883 (GRCm38)	H339R	probably benign	Het
Espnl	C	T	1: 91,340,534 (GRCm38)	P294L	probably benign	Het
Ftmt	T	A	18: 52,331,840 (GRCm38)	I76N	possibly damaging	Het
Gorasp2	T	G	2: 70,676,459 (GRCm38)		probably benign	Het
Hadhb	T	A	5: 30,184,063 (GRCm38)	M468K	possibly damaging	Het
Hfm1	A	G	5: 106,873,928 (GRCm38)		probably benign	Het
Inpp5j	T	C	11: 3,495,338 (GRCm38)		probably benign	Het
Ipo7	T	A	7: 110,040,853 (GRCm38)	F288I	probably damaging	Het
Kcnv1	T	A	15: 45,109,123 (GRCm38)	K455*	probably null	Het
Kdm5a	A	G	6: 120,406,730 (GRCm38)		probably benign	Het
Kmt2d	G	A	15: 98,850,077 (GRCm38)	S3122F	probably benign	Het
Kndc1	A	G	7: 139,910,901 (GRCm38)	I440V	probably benign	Het
Mib2	T	A	4: 155,656,746 (GRCm38)	I545F	probably damaging	Het
Nav2	C	T	7: 49,546,041 (GRCm38)	P1055L	probably damaging	Het
Olfr111	C	A	17: 37,530,749 (GRCm38)	F257L	probably damaging	Het
Olfr1257	T	A	2: 89,881,411 (GRCm38)	I195N	probably benign	Het
Plch1	A	T	3: 63,701,849 (GRCm38)	L65Q	probably damaging	Het
Ppp3ca	A	G	3: 136,921,862 (GRCm38)	I396V	possibly damaging	Het
Ryr1	A	T	7: 29,040,844 (GRCm38)	N3917K	probably damaging	Het
Scn7a	T	C	2: 66,752,314 (GRCm38)	T80A	probably damaging	Het
Sema3f	C	T	9: 107,687,736 (GRCm38)	E307K	probably damaging	Het
Serpinb9b	A	T	13: 33,039,970 (GRCm38)		probably benign	Het
Slc2a12	T	C	10: 22,665,155 (GRCm38)	F303S	probably damaging	Het
Slc9c1	T	C	16: 45,580,142 (GRCm38)	V705A	probably benign	Het
Tenm4	T	C	7: 96,774,176 (GRCm38)		probably benign	Het
Tm6sf1	A	T	7: 81,875,824 (GRCm38)		probably benign	Het
Tmem245	T	C	4: 56,899,119 (GRCm38)	Y269C	probably damaging	Het
Txndc2	A	G	17: 65,637,976 (GRCm38)	I402T	possibly damaging	Het
Ube4b	A	G	4: 149,387,079 (GRCm38)		probably null	Het
Usp28	T	A	9: 49,037,769 (GRCm38)	Y863N	possibly damaging	Het
Vmn2r69	T	C	7: 85,409,752 (GRCm38)	I534V	probably benign	Het
Wdr89	A	T	12: 75,632,969 (GRCm38)	D170E	probably damaging	Het
Zfp280d	C	A	9: 72,301,711 (GRCm38)	N74K	probably damaging	Het
Zfp518a	G	A	19: 40,914,617 (GRCm38)	G997R	probably damaging	Het

Other mutations in Siglec15

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01743:Siglec15	APN	18	78,043,605 (GRCm38)	unclassified	probably benign
IGL02988:Siglec15	UTSW	18	78,049,247 (GRCm38)	missense	probably damaging	1.00
PIT4377001:Siglec15	UTSW	18	78,057,375 (GRCm38)	start gained	probably benign
R0040:Siglec15	UTSW	18	78,048,877 (GRCm38)	splice site	probably benign
R0607:Siglec15	UTSW	18	78,046,137 (GRCm38)	missense	probably benign	0.03
R4427:Siglec15	UTSW	18	78,043,621 (GRCm38)	missense	possibly damaging	0.53
R5023:Siglec15	UTSW	18	78,048,675 (GRCm38)	missense	probably damaging	1.00
R5994:Siglec15	UTSW	18	78,047,375 (GRCm38)	missense	probably damaging	1.00
R7052:Siglec15	UTSW	18	78,048,731 (GRCm38)	missense	probably damaging	1.00
R7807:Siglec15	UTSW	18	78,047,481 (GRCm38)	missense	probably damaging	1.00
R7827:Siglec15	UTSW	18	78,057,230 (GRCm38)	nonsense	probably null
R7898:Siglec15	UTSW	18	78,043,699 (GRCm38)	missense	probably benign	0.19
R8052:Siglec15	UTSW	18	78,048,588 (GRCm38)	missense	possibly damaging	0.46
R9077:Siglec15	UTSW	18	78,048,768 (GRCm38)	missense	possibly damaging	0.68

Posted On

2015-04-16