Mutagenetix > Incidental Mutation

Incidental Mutation 'R5994:Siglec15'

481038

Institutional Source

Beutler Lab

Gene Symbol

Siglec15

Ensembl Gene

ENSMUSG00000091055

Gene Name

sialic acid binding Ig-like lectin 15

Synonyms

Cd33l3, EG620235

MMRRC Submission

044173-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5994 (G1)

Quality Score

81.0076

Status

Not validated

Chromosome

Chromosomal Location

78043614-78057395 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 78047375 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 236 (C236F)

Ref Sequence

ENSEMBL: ENSMUSP00000126901 (fasta)

Gene Model

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

AlphaFold

A7E1W8

Predicted Effect

probably damaging
Transcript: ENSMUST00000170760
AA Change: C236F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000126901
Gene: ENSMUSG00000091055
AA Change: C236F

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: 99.9%
3x: 99.5%
10x: 97.4%
20x: 91.7%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	T	6: 121,670,903 (GRCm38)	H1118L	probably benign	Het
Abca8b	A	G	11: 109,949,766 (GRCm38)		probably null	Het
Abcb5	A	T	12: 118,965,260 (GRCm38)		probably null	Het
Adcy6	A	T	15: 98,593,664 (GRCm38)	I1016N	probably damaging	Het
Afg3l2	A	T	18: 67,429,070 (GRCm38)	C312S	probably damaging	Het
Ano8	C	T	8: 71,484,834 (GRCm38)	V89M	probably damaging	Het
Arhgap21	C	T	2: 20,881,376 (GRCm38)	G330D	possibly damaging	Het
Caskin1	T	C	17: 24,496,961 (GRCm38)	L195P	probably damaging	Het
Cfap54	A	G	10: 93,039,081 (GRCm38)	I514T	probably damaging	Het
Ctdsp2	G	A	10: 126,995,820 (GRCm38)		probably benign	Het
Cyp4x1	T	C	4: 115,121,945 (GRCm38)	I152V	probably benign	Het
Dglucy	G	A	12: 100,842,700 (GRCm38)	R219Q	probably benign	Het
Disp3	G	T	4: 148,254,284 (GRCm38)	A810E	possibly damaging	Het
Dtx4	T	C	19: 12,501,153 (GRCm38)	Y22C	probably damaging	Het
Edaradd	A	T	13: 12,478,496 (GRCm38)	I105N	probably damaging	Het
Eepd1	C	T	9: 25,603,453 (GRCm38)	P519S	probably damaging	Het
Fscn3	A	T	6: 28,430,295 (GRCm38)	S155C	probably benign	Het
Gm10134	A	T	2: 28,506,246 (GRCm38)	E51V	probably damaging	Het
Gm7247	C	T	14: 51,364,348 (GRCm38)	S26F	probably benign	Het
Golga7	T	C	8: 23,250,265 (GRCm38)	E83G	probably benign	Het
Gpr12	T	C	5: 146,583,431 (GRCm38)	H227R	probably damaging	Het
Hoxa2	T	G	6: 52,164,392 (GRCm38)	S85R	possibly damaging	Het
Hrnr	T	C	3: 93,332,300 (GRCm38)	S3282P	unknown	Het
Ift74	C	A	4: 94,691,724 (GRCm38)	T543K	possibly damaging	Het
Klf10	C	A	15: 38,296,041 (GRCm38)	R420L	probably damaging	Het
Krt77	T	A	15: 101,862,855 (GRCm38)	I338F	probably damaging	Het
Limch1	A	T	5: 66,974,622 (GRCm38)	S152C	probably damaging	Het
Mgat4e	T	A	1: 134,541,496 (GRCm38)	H270L	probably benign	Het
Myrf	A	T	19: 10,219,117 (GRCm38)	L504Q	probably null	Het
Nckipsd	A	G	9: 108,813,977 (GRCm38)	Q366R	probably benign	Het
Npy5r	A	T	8: 66,682,099 (GRCm38)	V14D	probably benign	Het
Nrap	T	A	19: 56,351,599 (GRCm38)	R830*	probably null	Het
Ogfrl1	A	T	1: 23,378,989 (GRCm38)	Y103N	probably damaging	Het
Olfr978	A	T	9: 39,994,223 (GRCm38)	R138*	probably null	Het
P2rx4	T	A	5: 122,725,079 (GRCm38)	L232H	probably damaging	Het
Pabpc2	A	T	18: 39,773,894 (GRCm38)	T71S	probably benign	Het
Paip2b	C	A	6: 83,808,885 (GRCm38)	S121I	probably damaging	Het
Pofut1	C	T	2: 153,261,229 (GRCm38)	T261I	possibly damaging	Het
Ppp6c	G	T	2: 39,210,992 (GRCm38)	T46K	possibly damaging	Het
Prkd2	C	A	7: 16,850,336 (GRCm38)	H371Q	probably benign	Het
Prrc2c	A	T	1: 162,674,156 (GRCm38)		probably null	Het
Psd3	C	T	8: 67,719,968 (GRCm38)	A894T	probably damaging	Het
Pygm	A	T	19: 6,398,043 (GRCm38)		probably null	Het
Pzp	A	T	6: 128,491,597 (GRCm38)	M989K	probably damaging	Het
Ralgapa2	A	T	2: 146,361,453 (GRCm38)	S1159T	probably benign	Het
Rapgefl1	T	C	11: 98,850,160 (GRCm38)	F575L	probably benign	Het
Rassf6	A	G	5: 90,617,768 (GRCm38)	L28S	probably damaging	Het
Rbp3	G	T	14: 33,954,900 (GRCm38)	K268N	probably damaging	Het
Rela	C	T	19: 5,647,064 (GRCm38)	T433M	possibly damaging	Het
Rnf103	T	A	6: 71,496,910 (GRCm38)	S102R	probably damaging	Het
Scarf2	A	G	16: 17,806,379 (GRCm38)	N516S	probably damaging	Het
Sdcbp2	T	C	2: 151,587,483 (GRCm38)	I241T	probably damaging	Het
Sept7	T	C	9: 25,288,198 (GRCm38)	I131T	possibly damaging	Het
Sh3pxd2b	T	C	11: 32,407,570 (GRCm38)	F191L	probably damaging	Het
Slc11a2	T	C	15: 100,397,681 (GRCm38)	T520A	probably benign	Het
Slc26a11	C	A	11: 119,379,912 (GRCm38)	F553L	probably benign	Het
Smchd1	G	A	17: 71,365,409 (GRCm38)	P1596S	possibly damaging	Het
Taar7b	A	G	10: 24,000,348 (GRCm38)	H137R	probably damaging	Het
Thap12	T	A	7: 98,716,030 (GRCm38)	C468*	probably null	Het
Timp4	C	T	6: 115,247,354 (GRCm38)	G118D	probably damaging	Het
Tnnt3	A	G	7: 142,511,266 (GRCm38)	K48E	probably damaging	Het
Trmt10a	T	A	3: 138,156,714 (GRCm38)	I255N	probably damaging	Het
Ttll10	T	C	4: 156,048,732 (GRCm38)		probably null	Het
Ube4b	A	G	4: 149,372,932 (GRCm38)	Y283H	probably damaging	Het
Ucp1	G	T	8: 83,293,938 (GRCm38)	V126L	possibly damaging	Het
Unc13b	T	A	4: 43,172,596 (GRCm38)		probably benign	Het
Vps13b	T	C	15: 35,875,772 (GRCm38)	S2768P	probably damaging	Het
Zcchc6	T	G	13: 59,789,209 (GRCm38)	Y806S	probably damaging	Het
Zfp101	T	A	17: 33,380,962 (GRCm38)	M607L	probably benign	Het
Zfp292	C	T	4: 34,805,464 (GRCm38)	V2527M	possibly damaging	Het
Zfp503	T	A	14: 21,985,562 (GRCm38)	T429S	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
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

Predicted Primers

PCR Primer
(F):5'- GAAAGGATTTCTGATGTGCCAC -3'
(R):5'- TCGTCAACATCTCGGTGCTG -3'

Sequencing Primer
(F):5'- CCAGATCTGGGATGCACC -3'
(R):5'- CAGGCAACAGCTCCGCT -3'

Posted On

2017-06-26