Mutagenetix > Incidental Mutation

Incidental Mutation 'R5533:Smpd5'

433776

Institutional Source

Beutler Lab

Gene Symbol

Smpd5

Ensembl Gene

ENSMUSG00000071724

Gene Name

sphingomyelin phosphodiesterase 5

Synonyms

Gm10345

MMRRC Submission

043091-MU

Accession Numbers

Essential gene?

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

Stock #

R5533 (G1)

Quality Score

180

Status

Not validated

Chromosome

Chromosomal Location

76178548-76181096 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 76178757 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 42 (S42P)

Ref Sequence

ENSEMBL: ENSMUSP00000134687 (fasta)

Gene Model

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

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

possibly damaging
Transcript: ENSMUST00000163991
AA Change: S42P

PolyPhen 2 Score 0.465 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000134687
Gene: ENSMUSG00000071724
AA Change: S42P

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: ENSMUST00000230221

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

noncoding transcript
Transcript: ENSMUST00000230735

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

Coding Region Coverage

1x: 98.4%
3x: 97.1%
10x: 94.5%
20x: 88.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agap2	A	G	10: 126,918,911 (GRCm39)	E429G	probably damaging	Het
Akap12	T	A	10: 4,307,405 (GRCm39)	V1405D	probably damaging	Het
Akap7	C	T	10: 25,159,880 (GRCm39)	D107N	possibly damaging	Het
Arfgef1	A	G	1: 10,269,952 (GRCm39)		probably null	Het
Cacna1s	T	A	1: 136,026,113 (GRCm39)		probably null	Het
Ctsd	T	C	7: 141,931,070 (GRCm39)	Q274R	probably benign	Het
Dysf	G	A	6: 84,163,453 (GRCm39)	R1575Q	probably damaging	Het
Erich6b	A	T	14: 75,896,274 (GRCm39)	L53F	possibly damaging	Het
Exoc6	A	C	19: 37,582,218 (GRCm39)		probably null	Het
Fbxw19	A	T	9: 109,315,133 (GRCm39)	V143E	probably benign	Het
Fkbpl	G	A	17: 34,864,303 (GRCm39)	A24T	probably benign	Het
Fndc1	A	G	17: 7,991,608 (GRCm39)	F696S	unknown	Het
Foxa3	G	T	7: 18,748,940 (GRCm39)	Y102*	probably null	Het
Foxn1	A	G	11: 78,256,792 (GRCm39)	M301T	probably damaging	Het
Foxp2	C	T	6: 15,197,119 (GRCm39)	Q54*	probably null	Het
Glra1	T	C	11: 55,423,208 (GRCm39)	E117G	possibly damaging	Het
Glt1d1	A	T	5: 127,768,095 (GRCm39)	D234V	probably damaging	Het
Golm2	AGATGGTGATGGTG	AGATGGTG	2: 121,756,178 (GRCm39)		probably benign	Het
Gulp1	T	C	1: 44,812,441 (GRCm39)	I137T	probably damaging	Het
Itga8	A	G	2: 12,165,161 (GRCm39)	V816A	possibly damaging	Het
Kdm4c	G	A	4: 74,233,886 (GRCm39)		probably benign	Het
Krtap19-2	A	G	16: 88,670,996 (GRCm39)		probably benign	Het
Lcorl	T	C	5: 45,891,219 (GRCm39)	N378S	possibly damaging	Het
Ltbr	G	A	6: 125,289,757 (GRCm39)	R146W	probably damaging	Het
Mocos	T	C	18: 24,807,357 (GRCm39)	L363P	probably damaging	Het
Mycbp2	G	T	14: 103,520,081 (GRCm39)	Y745*	probably null	Het
Nav3	A	C	10: 109,719,539 (GRCm39)	N141K	possibly damaging	Het
Ncor1	T	C	11: 62,233,837 (GRCm39)	N779S	probably benign	Het
Nebl	G	T	2: 17,398,079 (GRCm39)	Y414*	probably null	Het
Nf1	T	G	11: 79,336,615 (GRCm39)	C1065G	probably damaging	Het
Nfib	A	G	4: 82,278,004 (GRCm39)	V216A	probably damaging	Het
Nub1	A	T	5: 24,907,379 (GRCm39)	N354I	possibly damaging	Het
Nyap1	C	T	5: 137,733,726 (GRCm39)	V436I	probably benign	Het
Or5m11b	A	G	2: 85,805,797 (GRCm39)	D70G	possibly damaging	Het
Or5p73	T	C	7: 108,065,469 (GRCm39)	F313L	probably benign	Het
Pde2a	T	A	7: 101,155,187 (GRCm39)	M570K	probably damaging	Het
Pfas	T	C	11: 68,882,296 (GRCm39)	S856G	probably benign	Het
Pkd1l2	T	C	8: 117,794,855 (GRCm39)	E368G	probably benign	Het
Ptf1a	G	A	2: 19,451,969 (GRCm39)	V323M	probably damaging	Het
Ptprh	T	C	7: 4,552,504 (GRCm39)	Y920C	probably damaging	Het
Sergef	T	A	7: 46,264,200 (GRCm39)	D229V	possibly damaging	Het
Slc1a4	T	C	11: 20,254,417 (GRCm39)	K483R	probably benign	Het
Slc26a6	G	A	9: 108,735,155 (GRCm39)	R351H	probably damaging	Het
Slc6a19	G	A	13: 73,833,948 (GRCm39)	T370I	possibly damaging	Het
Snx13	G	A	12: 35,173,025 (GRCm39)		probably null	Het
Sox10	G	A	15: 79,040,502 (GRCm39)	S185L	probably benign	Het
Spata31e5	T	A	1: 28,817,163 (GRCm39)	I290F	probably damaging	Het
Srpk1	T	C	17: 28,821,733 (GRCm39)	Y227C	probably damaging	Het
Stambpl1	T	A	19: 34,211,316 (GRCm39)		probably null	Het
Stk36	A	G	1: 74,665,750 (GRCm39)	R698G	possibly damaging	Het
Tas2r122	T	A	6: 132,688,393 (GRCm39)	T167S	probably damaging	Het
Tlr12	A	G	4: 128,509,656 (GRCm39)	S865P	probably damaging	Het
Trp53bp1	A	G	2: 121,038,227 (GRCm39)	L1537P	probably damaging	Het
Vstm2a	C	A	11: 16,213,125 (GRCm39)	T170K	possibly damaging	Het
Xpo7	A	T	14: 70,931,407 (GRCm39)	F304I	probably damaging	Het
Zfp286	T	C	11: 62,671,796 (GRCm39)		probably benign	Het
Zfp985	A	T	4: 147,667,440 (GRCm39)	K103*	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
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
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'- GTTTCCAACCGCCACAGAAG -3'
(R):5'- GTTGTTAAAATGAGCCAGCCC -3'

Sequencing Primer
(F):5'- ACGTCCGGGCATTACTAGC -3'
(R):5'- CAATAGGCACAGATTAGCAGTG -3'

Posted On

2016-10-06