Mutagenetix > Incidental Mutation

Incidental Mutation 'R6290:Smpdl3b'

508348

Institutional Source

Beutler Lab

Gene Symbol

Smpdl3b

Ensembl Gene

ENSMUSG00000028885

Gene Name

sphingomyelin phosphodiesterase, acid-like 3B

Synonyms

1110054A24Rik, Asml3b

MMRRC Submission

044460-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.078) question?

Stock #

R6290 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

132460277-132484558 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 132465586 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 278 (H278L)

Ref Sequence

ENSEMBL: ENSMUSP00000030709 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030709]

AlphaFold

P58242

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030709
AA Change: H278L

PolyPhen 2 Score 0.668 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000030709
Gene: ENSMUSG00000028885
AA Change: H278L

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:Metallophos	21	281	1.9e-20	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.2%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele are viable and overtly normal but exhibit an enhanced inflammatory response in models of Toll-like receptor (TLR)-dependent peritonitis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aim2	T	A	1: 173,289,681 (GRCm39)	I208N	possibly damaging	Het
Albfm1	T	C	5: 90,740,864 (GRCm39)		probably null	Het
Ank3	A	C	10: 69,827,198 (GRCm39)		probably benign	Het
Arfgef1	T	C	1: 10,259,036 (GRCm39)	E687G	possibly damaging	Het
Ash1l	T	A	3: 88,890,068 (GRCm39)	L649*	probably null	Het
Atp7b	C	T	8: 22,510,836 (GRCm39)	G437S	probably damaging	Het
Cep89	G	A	7: 35,119,688 (GRCm39)	G349D	probably damaging	Het
Cntn6	T	A	6: 104,744,851 (GRCm39)	Y315N	probably damaging	Het
Cspg4b	A	T	13: 113,456,492 (GRCm39)	N846I	probably damaging	Het
Csrp2	T	C	10: 110,767,844 (GRCm39)	C10R	probably damaging	Het
Cux1	T	C	5: 136,340,412 (GRCm39)	N625D	probably damaging	Het
Dnah9	T	C	11: 65,732,201 (GRCm39)	N4235S	probably damaging	Het
Dpy19l1	A	G	9: 24,373,896 (GRCm39)	C265R	probably damaging	Het
Dse	A	G	10: 34,028,336 (GRCm39)	M918T	probably benign	Het
Duox1	C	A	2: 122,164,288 (GRCm39)	T916N	possibly damaging	Het
E130308A19Rik	A	T	4: 59,691,332 (GRCm39)	I389F	probably benign	Het
Eif2ak1	T	A	5: 143,821,617 (GRCm39)	V311D	probably benign	Het
Eps15	T	A	4: 109,220,395 (GRCm39)	M534K	probably benign	Het
Gpr182	A	T	10: 127,586,893 (GRCm39)	F19L	probably benign	Het
Ifi214	T	A	1: 173,356,983 (GRCm39)	D40V	probably damaging	Het
Klhl2	A	G	8: 65,264,351 (GRCm39)	V121A	possibly damaging	Het
Klrh1	A	G	6: 129,743,658 (GRCm39)	Y209H	probably benign	Het
Mylk	T	A	16: 34,715,213 (GRCm39)	S514T	probably benign	Het
Myo18b	C	T	5: 113,013,601 (GRCm39)	R785H	possibly damaging	Het
Naga	T	G	15: 82,219,057 (GRCm39)	D230A	possibly damaging	Het
Napsa	A	G	7: 44,230,761 (GRCm39)	N70D	probably benign	Het
Nup210l	T	A	3: 90,027,216 (GRCm39)	Y199*	probably null	Het
Olfml2b	A	T	1: 170,477,359 (GRCm39)	K165*	probably null	Het
Or1j20	C	T	2: 36,760,448 (GRCm39)	P290L	probably damaging	Het
Paxip1	A	T	5: 27,970,576 (GRCm39)		probably null	Het
Pcyox1	T	A	6: 86,365,881 (GRCm39)	K444N	probably benign	Het
Pikfyve	T	A	1: 65,242,084 (GRCm39)		probably null	Het
Ppp6r3	T	C	19: 3,544,011 (GRCm39)	I335V	probably benign	Het
Prkcz	A	G	4: 155,440,956 (GRCm39)	S71P	probably damaging	Het
Psg19	C	T	7: 18,528,014 (GRCm39)	R243Q	probably benign	Het
Ptbp2	A	T	3: 119,517,769 (GRCm39)	M382K	possibly damaging	Het
Slc16a14	T	A	1: 84,885,106 (GRCm39)	I478L	probably benign	Het
Slc45a1	A	T	4: 150,727,096 (GRCm39)	N174K	probably damaging	Het
Slc5a5	G	A	8: 71,343,822 (GRCm39)	T160I	probably damaging	Het
Sorcs2	C	T	5: 36,219,931 (GRCm39)	R371H	probably damaging	Het
Synpo2	A	T	3: 122,910,701 (GRCm39)	S315T	probably damaging	Het
Taok3	A	G	5: 117,342,433 (GRCm39)	Y137C	probably damaging	Het
Tapbpl	T	C	6: 125,207,679 (GRCm39)	D49G	probably benign	Het
Tbr1	T	C	2: 61,635,394 (GRCm39)	S115P	probably benign	Het
Trim67	C	T	8: 125,549,918 (GRCm39)	T516I	probably benign	Het
Trrap	T	A	5: 144,741,828 (GRCm39)	L1351Q	probably damaging	Het
Tsc2	A	G	17: 24,815,884 (GRCm39)	I166T	probably benign	Het
Tspan8	T	A	10: 115,663,729 (GRCm39)	C22S	probably damaging	Het
Tyro3	T	C	2: 119,647,321 (GRCm39)	S813P	probably benign	Het
U2af2	G	T	7: 5,078,683 (GRCm39)	V421L	probably benign	Het
Vmn1r77	T	C	7: 11,775,736 (GRCm39)	S103P	probably damaging	Het
Vmn2r1	T	A	3: 64,012,873 (GRCm39)	D911E	probably benign	Het
Vmn2r115	ATCTTCT	ATCT	17: 23,578,962 (GRCm39)		probably benign	Het
Vmn2r56	A	T	7: 12,428,809 (GRCm39)	C486S	probably damaging	Het
Vwa8	A	G	14: 79,331,772 (GRCm39)		probably null	Het
Xirp1	T	G	9: 119,847,791 (GRCm39)	E364A	probably benign	Het
Zbp1	T	C	2: 173,057,634 (GRCm39)	E99G	probably damaging	Het
Zfp385b	C	A	2: 77,280,612 (GRCm39)	V109F	possibly damaging	Het

Other mutations in Smpdl3b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02057:Smpdl3b	APN	4	132,461,024 (GRCm39)	missense	probably benign	0.11
IGL03166:Smpdl3b	APN	4	132,468,842 (GRCm39)	missense	probably benign	0.00
R0321:Smpdl3b	UTSW	4	132,468,755 (GRCm39)	missense	probably damaging	0.99
R0450:Smpdl3b	UTSW	4	132,472,449 (GRCm39)	missense	probably damaging	1.00
R0510:Smpdl3b	UTSW	4	132,472,449 (GRCm39)	missense	probably damaging	1.00
R1462:Smpdl3b	UTSW	4	132,473,925 (GRCm39)	missense	probably damaging	1.00
R1462:Smpdl3b	UTSW	4	132,473,925 (GRCm39)	missense	probably damaging	1.00
R4725:Smpdl3b	UTSW	4	132,472,489 (GRCm39)	missense	probably damaging	0.97
R4844:Smpdl3b	UTSW	4	132,465,369 (GRCm39)	missense	probably damaging	1.00
R6992:Smpdl3b	UTSW	4	132,472,452 (GRCm39)	missense	possibly damaging	0.94
R8273:Smpdl3b	UTSW	4	132,465,712 (GRCm39)	missense	probably damaging	1.00
R8344:Smpdl3b	UTSW	4	132,473,990 (GRCm39)	missense	probably damaging	1.00
R8711:Smpdl3b	UTSW	4	132,472,491 (GRCm39)	missense	probably damaging	1.00
R8725:Smpdl3b	UTSW	4	132,461,060 (GRCm39)	missense	probably damaging	1.00
R8949:Smpdl3b	UTSW	4	132,473,814 (GRCm39)	missense	probably benign	0.00
R9592:Smpdl3b	UTSW	4	132,484,438 (GRCm39)	start gained	probably benign
Z1177:Smpdl3b	UTSW	4	132,473,922 (GRCm39)	missense	possibly damaging	0.66

Predicted Primers

PCR Primer
(F):5'- CTCCAGGTAATGTGGTCTTCC -3'
(R):5'- ACATGGGCAGGTTTTGGAAG -3'

Sequencing Primer
(F):5'- TGGTCTTCCACGGTGTGACC -3'
(R):5'- CAGGTTTTGGAAGGTGGAAATG -3'

Posted On

2018-03-15