Mutagenetix > Incidental Mutation

Incidental Mutation 'R6076:Smpd5'

482759

Institutional Source

Beutler Lab

Gene Symbol

Smpd5

Ensembl Gene

ENSMUSG00000071724

Gene Name

sphingomyelin phosphodiesterase 5

Synonyms

Gm10345

MMRRC Submission

044237-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.144) question?

Stock #

R6076 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

76178548-76181096 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 76179092 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 153 (N153K)

Ref Sequence

ENSEMBL: ENSMUSP00000134687 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023222] [ENSMUST00000074173] [ENSMUST00000163991] [ENSMUST00000171192] [ENSMUST00000171340] [ENSMUST00000230221]

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

noncoding transcript
Transcript: ENSMUST00000096370

Predicted Effect

probably damaging
Transcript: ENSMUST00000163991
AA Change: N153K

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

SMART Domains

Protein: ENSMUSP00000134687
Gene: ENSMUSG00000071724
AA Change: N153K

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

noncoding transcript
Transcript: ENSMUST00000167433

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000169664

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170261

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175428

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

Predicted Effect

probably benign
Transcript: ENSMUST00000230221

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230735

Coding Region Coverage

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ank3	G	A	10: 69,838,395 (GRCm39)	R1566K	possibly damaging	Het
Atp6v0a1	T	A	11: 100,945,886 (GRCm39)	I723N	probably damaging	Het
C530025M09Rik	T	C	2: 149,672,670 (GRCm39)		probably benign	Het
Cdkn1a	A	G	17: 29,318,332 (GRCm39)	K149E	probably damaging	Het
Cep70	T	A	9: 99,180,558 (GRCm39)	I571N	probably damaging	Het
Cimip4	T	C	15: 78,270,427 (GRCm39)	R114G	possibly damaging	Het
Col9a1	A	T	1: 24,234,457 (GRCm39)		probably benign	Het
Csde1	G	A	3: 102,948,545 (GRCm39)	D132N	possibly damaging	Het
Dlk1	A	G	12: 109,425,895 (GRCm39)	Q256R	probably damaging	Het
Epha6	A	T	16: 60,026,073 (GRCm39)	D456E	probably damaging	Het
Ephx2	A	G	14: 66,330,297 (GRCm39)	V354A	probably damaging	Het
Fpr-rs4	A	G	17: 18,242,317 (GRCm39)	N108S	probably damaging	Het
Gimap1	C	T	6: 48,719,521 (GRCm39)	Q116*	probably null	Het
Gm10784	T	C	13: 50,099,310 (GRCm39)		noncoding transcript	Het
Grid2ip	G	C	5: 143,373,130 (GRCm39)	S736T	probably benign	Het
Hic1	T	C	11: 75,058,154 (GRCm39)	D245G	probably damaging	Het
Hpcal4	C	A	4: 123,084,514 (GRCm39)	Q148K	probably benign	Het
Hspa14	C	T	2: 3,512,109 (GRCm39)	S55N	probably benign	Het
Hspa1b	G	A	17: 35,176,473 (GRCm39)	T504I	probably damaging	Het
Jchain	G	T	5: 88,675,631 (GRCm39)	T3N	probably benign	Het
Kl	C	G	5: 150,876,466 (GRCm39)	F95L	probably damaging	Het
Kndc1	A	G	7: 139,481,954 (GRCm39)	T115A	probably damaging	Het
Lrp8	G	T	4: 107,704,656 (GRCm39)	R292L	possibly damaging	Het
Lrrc15	T	A	16: 30,091,806 (GRCm39)	D511V	probably benign	Het
Mapk8	A	G	14: 33,112,250 (GRCm39)	C213R	probably damaging	Het
Mcph1	C	T	8: 18,682,015 (GRCm39)	P384L	probably benign	Het
Mrps7	T	C	11: 115,495,713 (GRCm39)	S84P	probably damaging	Het
Nceh1	A	C	3: 27,333,344 (GRCm39)	I147L	probably benign	Het
Noxa1	A	T	2: 24,975,821 (GRCm39)	I409N	probably damaging	Het
Or1p1c	T	C	11: 74,161,088 (GRCm39)	I291T	probably damaging	Het
Pkd1	G	A	17: 24,800,004 (GRCm39)	G2975R	probably benign	Het
Ppip5k1	T	C	2: 121,167,591 (GRCm39)	D17G	probably null	Het
Prex2	T	A	1: 11,256,174 (GRCm39)	Y1182N	probably benign	Het
Rasa2	T	C	9: 96,427,699 (GRCm39)	N722S	probably benign	Het
Rcc1l	A	G	5: 134,198,167 (GRCm39)	V155A	possibly damaging	Het
Rest	A	G	5: 77,430,821 (GRCm39)	E1080G	unknown	Het
Sacs	A	T	14: 61,441,985 (GRCm39)	K1344*	probably null	Het
Sec16a	C	T	2: 26,313,954 (GRCm39)	E1884K	probably damaging	Het
Secisbp2	C	A	13: 51,833,813 (GRCm39)	T651K	probably damaging	Het
Sema3e	A	G	5: 14,291,100 (GRCm39)	D620G	probably benign	Het
Slc6a17	A	G	3: 107,379,387 (GRCm39)	S553P	possibly damaging	Het
Ube2d4	T	A	15: 58,718,992 (GRCm39)		noncoding transcript	Het
Vps13c	A	G	9: 67,818,884 (GRCm39)	I1102V	probably damaging	Het
Wdr36	C	A	18: 32,979,998 (GRCm39)	S241Y	probably damaging	Het
Wdr7	T	A	18: 63,872,348 (GRCm39)	D427E	probably damaging	Het
Zfp945	G	A	17: 23,070,432 (GRCm39)	P489L	probably damaging	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
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
R8184:Smpd5	UTSW	15	76,179,926 (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'- AAGTGGGGTGTTGCTACCAC -3'
(R):5'- AGGTCGAACACTTCCTGCAG -3'

Sequencing Primer
(F):5'- CTACCCTTAGCGTTGGTCGG -3'
(R):5'- TTCCTGCAGACACACGAAGTC -3'

Posted On

2017-07-14