Mutagenetix > Incidental Mutation

Incidental Mutation 'R8184:Smpd5'

634789

Institutional Source

Beutler Lab

Gene Symbol

Smpd5

Ensembl Gene

ENSMUSG00000071724

Gene Name

sphingomyelin phosphodiesterase 5

Synonyms

Gm10345

MMRRC Submission

067607-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.159) question?

Stock #

R8184 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

76178548-76181096 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 76179926 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 325 (E325G)

Ref Sequence

ENSEMBL: ENSMUSP00000134687 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023222] [ENSMUST00000074173] [ENSMUST00000163991] [ENSMUST00000171192] [ENSMUST00000171340]

AlphaFold

D6MZJ6

Predicted Effect

probably benign
Transcript: ENSMUST00000023222

SMART Domains

Protein: ENSMUSP00000023222
Gene: ENSMUSG00000022562

Domain	Start	End	E-Value	Type
Pfam:Hydant_A_N	9	212	1.5e-63	PFAM
Pfam:Hydantoinase_A	231	531	6.4e-109	PFAM
low complexity region	629	637	N/A	INTRINSIC
Pfam:Hydantoinase_B	734	1256	5.2e-225	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000074173

SMART Domains

Protein: ENSMUSP00000073805
Gene: ENSMUSG00000049653

Domain	Start	End	E-Value	Type
Pfam:Speriolin_N	1	176	5.1e-67	PFAM
Pfam:Speriolin_N	172	262	1.2e-25	PFAM
Pfam:Speriolin_C	334	480	1.5e-66	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000163991
AA Change: E325G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000134687
Gene: ENSMUSG00000071724
AA Change: E325G

Domain	Start	End	E-Value	Type
transmembrane domain	77	99	N/A	INTRINSIC
Pfam:Exo_endo_phos	176	471	4.1e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000171192

SMART Domains

Protein: ENSMUSP00000133693
Gene: ENSMUSG00000071724

Domain	Start	End	E-Value	Type
low complexity region	35	46	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000171340

SMART Domains

Protein: ENSMUSP00000129100
Gene: ENSMUSG00000022562

Domain	Start	End	E-Value	Type
Pfam:Hydant_A_N	9	212	2.8e-60	PFAM
Pfam:Hydantoinase_A	231	531	6.6e-102	PFAM
low complexity region	629	637	N/A	INTRINSIC
Pfam:Hydantoinase_B	733	1260	8.2e-190	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Accsl	T	C	2: 93,686,086 (GRCm39)	K577R	probably benign	Het
Baiap3	A	G	17: 25,467,499 (GRCm39)	S368P	probably benign	Het
Brf2	T	C	8: 27,614,013 (GRCm39)	E391G	possibly damaging	Het
Casr	T	A	16: 36,330,108 (GRCm39)	M409L	probably benign	Het
Ccdc83	G	T	7: 89,873,286 (GRCm39)	Y356*	probably null	Het
Clec10a	A	T	11: 70,060,642 (GRCm39)	N166Y	probably damaging	Het
Copg1	T	C	6: 87,866,996 (GRCm39)	F77S	probably damaging	Het
Dnah7a	T	G	1: 53,666,194 (GRCm39)	K611T	probably benign	Het
Dock10	G	A	1: 80,530,469 (GRCm39)	H1025Y	probably damaging	Het
Dock6	A	T	9: 21,741,596 (GRCm39)	S876T	possibly damaging	Het
Dop1b	G	T	16: 93,573,881 (GRCm39)	R1701L	probably benign	Het
Dus4l	A	G	12: 31,690,817 (GRCm39)	F278S	probably damaging	Het
Fbxo43	C	T	15: 36,162,485 (GRCm39)	V241I	possibly damaging	Het
Gbx2	A	T	1: 89,856,550 (GRCm39)	I280N	probably damaging	Het
Gnai1	A	G	5: 18,496,504 (GRCm39)	F140L		Het
Gne	T	C	4: 44,084,061 (GRCm39)	Y13C	probably benign	Het
Heatr5b	A	T	17: 79,121,662 (GRCm39)	S688T	probably benign	Het
Hectd2	T	A	19: 36,581,754 (GRCm39)	D431E	possibly damaging	Het
Hecw2	A	G	1: 54,079,546 (GRCm39)	S36P	probably benign	Het
Hpx	A	T	7: 105,241,352 (GRCm39)	I353N	probably damaging	Het
Ints8	A	T	4: 11,204,534 (GRCm39)	V974E	probably damaging	Het
Jaml	T	A	9: 45,000,110 (GRCm39)	L136Q	probably damaging	Het
Kazn	A	G	4: 141,845,441 (GRCm39)	V381A	probably benign	Het
Krt79	T	C	15: 101,838,187 (GRCm39)	T523A	unknown	Het
Lrrc8e	T	G	8: 4,285,140 (GRCm39)	L455R	probably damaging	Het
Mrps11	T	C	7: 78,433,125 (GRCm39)	S7P	possibly damaging	Het
Muc21	A	G	17: 35,933,722 (GRCm39)	S155P	unknown	Het
Neurl3	A	G	1: 36,308,662 (GRCm39)	F50S	probably damaging	Het
Nlgn1	T	C	3: 25,490,363 (GRCm39)	T455A	probably damaging	Het
Pbp2	T	C	6: 135,287,260 (GRCm39)	Y29C	probably damaging	Het
Pdcd11	T	A	19: 47,101,791 (GRCm39)	L992*	probably null	Het
Pla2g6	A	G	15: 79,171,322 (GRCm39)	I756T	probably benign	Het
Polm	T	A	11: 5,781,707 (GRCm39)	D263V	possibly damaging	Het
Pspc1	T	C	14: 57,001,700 (GRCm39)	T225A	probably benign	Het
Rtca	C	A	3: 116,301,473 (GRCm39)	A25S	probably benign	Het
Sirt2	G	A	7: 28,487,191 (GRCm39)	V318M	probably damaging	Het
Slc1a2	T	A	2: 102,568,197 (GRCm39)	I78K	probably damaging	Het
Slco3a1	A	G	7: 74,009,577 (GRCm39)	I246T	probably benign	Het
Snw1	T	C	12: 87,500,673 (GRCm39)	E362G	probably benign	Het
Tmem63c	A	T	12: 87,108,328 (GRCm39)	M114L	possibly damaging	Het
Trim24	T	C	6: 37,848,242 (GRCm39)	L66P	probably damaging	Het
Trpm3	T	C	19: 22,896,060 (GRCm39)	F966L	possibly damaging	Het
Ttn	T	C	2: 76,609,643 (GRCm39)	I17588V	probably benign	Het
Vmn2r44	A	T	7: 8,371,227 (GRCm39)	C606*	probably null	Het
Vmn2r74	A	T	7: 85,601,454 (GRCm39)	V728E	probably benign	Het
Zfp503	T	C	14: 22,036,019 (GRCm39)	D299G	possibly damaging	Het
Zfp764l1	C	T	7: 126,992,496 (GRCm39)	C38Y	probably null	Het

Other mutations in Smpd5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R4411:Smpd5	UTSW	15	76,179,112 (GRCm39)	missense	possibly damaging	0.75
R4475:Smpd5	UTSW	15	76,178,926 (GRCm39)	missense	probably damaging	1.00
R4715:Smpd5	UTSW	15	76,179,893 (GRCm39)	missense	probably benign	0.04
R4745:Smpd5	UTSW	15	76,179,008 (GRCm39)	missense	probably benign	0.04
R4879:Smpd5	UTSW	15	76,179,070 (GRCm39)	missense	possibly damaging	0.72
R5409:Smpd5	UTSW	15	76,179,914 (GRCm39)	missense	probably damaging	0.99
R5533:Smpd5	UTSW	15	76,178,757 (GRCm39)	missense	possibly damaging	0.47
R5579:Smpd5	UTSW	15	76,179,325 (GRCm39)	missense	possibly damaging	0.90
R6076:Smpd5	UTSW	15	76,179,092 (GRCm39)	missense	probably damaging	1.00
R7531:Smpd5	UTSW	15	76,180,539 (GRCm39)	missense	probably benign	0.00
R7826:Smpd5	UTSW	15	76,180,496 (GRCm39)	missense	probably benign	0.00
Z1177:Smpd5	UTSW	15	76,180,501 (GRCm39)	missense	possibly damaging	0.66
Z1177:Smpd5	UTSW	15	76,180,451 (GRCm39)	missense	possibly damaging	0.84

Predicted Primers

PCR Primer
(F):5'- TCTCCTTCGAAGGCAGTAGG -3'
(R):5'- CTGCTCCTTGGCATGATCTGTG -3'

Sequencing Primer
(F):5'- TTCGAAGGCAGTAGGTCCCTTAAC -3'
(R):5'- CATGATCTGTGGAGAAAAGCCGTTTC -3'

Posted On

2020-07-13