Mutagenetix > Incidental Mutation

Incidental Mutation 'R8052:Siglec15'

619150

Institutional Source

Beutler Lab

Gene Symbol

Siglec15

Ensembl Gene

ENSMUSG00000091055

Gene Name

sialic acid binding Ig-like lectin 15

Synonyms

Cd33l3, EG620235

MMRRC Submission

067489-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8052 (G1)

Quality Score

220.009

Status

Not validated

Chromosome

Chromosomal Location

78043614-78057395 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 78048588 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 133 (A133S)

Ref Sequence

ENSEMBL: ENSMUSP00000126901 (fasta)

Gene Model

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

AlphaFold

A7E1W8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000170760
AA Change: A133S

PolyPhen 2 Score 0.456 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000126901
Gene: ENSMUSG00000091055
AA Change: A133S

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

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi1	T	C	2: 22,953,543 (GRCm38)	T297A	probably benign	Het
Acadl	G	T	1: 66,853,178 (GRCm38)	T162K	probably benign	Het
Aldoart2	A	T	12: 55,565,751 (GRCm38)	I154F	probably damaging	Het
Alkbh8	G	A	9: 3,385,478 (GRCm38)	R625H	probably damaging	Het
Ankrd31	T	A	13: 96,832,528 (GRCm38)	V891E	probably benign	Het
Aopep	G	A	13: 63,068,251 (GRCm38)	V446I	probably damaging	Het
Atp8b5	C	T	4: 43,356,982 (GRCm38)	R577*	probably null	Het
Capn3	G	T	2: 120,486,386 (GRCm38)	E285D	probably benign	Het
Cd79b	G	T	11: 106,313,700 (GRCm38)	P87T	probably damaging	Het
Celsr2	T	G	3: 108,412,655 (GRCm38)	D947A	probably damaging	Het
Csmd3	A	C	15: 47,706,387 (GRCm38)	S1213R		Het
Cyp2j5	T	C	4: 96,664,004 (GRCm38)	M3V	probably benign	Het
Ddi1	C	T	9: 6,265,787 (GRCm38)	R194K	probably benign	Het
Decr1	T	C	4: 15,933,019 (GRCm38)	K49R	probably benign	Het
Dnah10	A	C	5: 124,828,511 (GRCm38)	E4130A	probably benign	Het
Dst	A	G	1: 34,284,363 (GRCm38)	D4648G	probably damaging	Het
Ecd	A	G	14: 20,329,952 (GRCm38)		probably null	Het
Erbin	A	T	13: 103,834,356 (GRCm38)	Y917*	probably null	Het
Evpl	T	C	11: 116,223,163 (GRCm38)	K1234E	probably benign	Het
F11r	T	A	1: 171,461,623 (GRCm38)	Y218N	possibly damaging	Het
Fam43a	C	G	16: 30,601,804 (GRCm38)	T402S	probably benign	Het
Frem2	T	C	3: 53,549,643 (GRCm38)	N2096S	probably benign	Het
Gm7697	A	T	8: 69,522,752 (GRCm38)	Y21N	possibly damaging	Het
Gpd2	T	A	2: 57,306,950 (GRCm38)	Y172*	probably null	Het
Hscb	A	G	5: 110,835,978 (GRCm38)	V90A	probably benign	Het
Iqgap2	T	C	13: 95,657,879 (GRCm38)	D1195G	probably damaging	Het
Map2k2	T	C	10: 81,115,066 (GRCm38)	I115T	probably damaging	Het
Mast2	C	T	4: 116,312,975 (GRCm38)	R707H	probably damaging	Het
Mindy4	A	G	6: 55,300,992 (GRCm38)	N607S	probably damaging	Het
Mrpl9	T	A	3: 94,443,743 (GRCm38)	Y77N	probably damaging	Het
Muc16	G	A	9: 18,659,051 (GRCm38)	T724I	unknown	Het
Nat3	A	T	8: 67,547,826 (GRCm38)	Y119F	possibly damaging	Het
Nol7	T	C	13: 43,401,514 (GRCm38)	S208P	probably damaging	Het
Notch3	A	T	17: 32,146,571 (GRCm38)	C1056S	probably damaging	Het
Nup50l	TCC	TCCGCC	6: 96,165,097 (GRCm38)		probably benign	Het
Nup50l	TCC	TCCCCC	6: 96,165,103 (GRCm38)		probably benign	Het
Or13j1	A	T	4: 43,705,884 (GRCm38)	V228E	probably damaging	Het
Or3a4	T	A	11: 74,054,475 (GRCm38)	I95F	probably benign	Het
Or5al5	A	T	2: 86,131,377 (GRCm38)	Y95*	probably null	Het
Or8g17	G	T	9: 39,019,487 (GRCm38)	T18K	probably damaging	Het
Osbpl3	A	C	6: 50,346,015 (GRCm38)	L288R	probably damaging	Het
Oscp1	A	C	4: 126,088,323 (GRCm38)	D352A	possibly damaging	Het
Pcdh9	G	A	14: 93,885,786 (GRCm38)	R983C	probably benign	Het
Pcdhgb8	T	C	18: 37,763,502 (GRCm38)	S542P	probably benign	Het
Pi4ka	T	C	16: 17,356,166 (GRCm38)	T490A		Het
Pkd1l1	A	T	11: 8,947,315 (GRCm38)	D531E		Het
Prr3	G	T	17: 35,979,161 (GRCm38)	D26E	possibly damaging	Het
Psmd8	T	C	7: 29,180,576 (GRCm38)	K24E	probably benign	Het
Rasgrp4	G	A	7: 29,149,937 (GRCm38)	C583Y	probably damaging	Het
Rest	A	G	5: 77,268,324 (GRCm38)	I128M	probably benign	Het
Rftn1	A	T	17: 50,086,579 (GRCm38)	F144I	probably damaging	Het
Rusc2	T	C	4: 43,421,851 (GRCm38)	F757S	probably benign	Het
Ryr1	A	G	7: 29,083,385 (GRCm38)	S1942P	probably benign	Het
Sdk2	C	T	11: 113,854,351 (GRCm38)	R706Q	probably damaging	Het
Sergef	G	T	7: 46,614,638 (GRCm38)	T275K	probably damaging	Het
Serpina10	T	C	12: 103,628,310 (GRCm38)	T217A	probably damaging	Het
Shd	G	C	17: 55,976,235 (GRCm38)	S288T	probably damaging	Het
Stat4	C	T	1: 52,079,773 (GRCm38)	P325L	probably damaging	Het
Syt8	G	A	7: 142,440,144 (GRCm38)	G344D	probably damaging	Het
Tes	A	G	6: 17,097,292 (GRCm38)	E133G	probably benign	Het
Tmprss2	T	C	16: 97,568,416 (GRCm38)	Y386C	probably damaging	Het
Tnfrsf11b	A	T	15: 54,252,106 (GRCm38)	L365Q	probably damaging	Het
Tns1	T	A	1: 73,953,437 (GRCm38)	D67V	probably damaging	Het
Tns2	T	C	15: 102,112,845 (GRCm38)	S982P	probably damaging	Het
Tpcn2	A	T	7: 145,260,946 (GRCm38)	F473I	probably benign	Het
Tsg101	A	T	7: 46,892,509 (GRCm38)	I232N	probably damaging	Het
Ttc3	T	C	16: 94,467,989 (GRCm38)	S1977P	probably benign	Het
Ttll11	T	A	2: 35,979,515 (GRCm38)	E37V	unknown	Het
Ttn	A	T	2: 76,818,816 (GRCm38)	V12716E	possibly damaging	Het
Vmn2r70	A	C	7: 85,563,715 (GRCm38)	S495A	probably benign	Het
Zfp974	A	G	7: 27,911,272 (GRCm38)	C343R	probably damaging	Het
Zfy1	A	T	Y: 726,004 (GRCm38)	I587N	possibly 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
IGL02472:Siglec15	APN	18	78,043,617 (GRCm38)	missense	possibly damaging	0.72
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
R9077:Siglec15	UTSW	18	78,048,768 (GRCm38)	missense	possibly damaging	0.68

Predicted Primers

PCR Primer
(F):5'- AGTACGCTCTCGGGAATGTG -3'
(R):5'- CCCTATGCTAAGTCTGATGTGTC -3'

Sequencing Primer
(F):5'- CTCTCGGGAATGTGGGGGAAG -3'
(R):5'- AAGTCTGATGTGTCTCTGGCCC -3'

Posted On

2020-01-23