Mutagenetix > Incidental Mutations

Incidental Mutation 'R3801:Samd8'

273003

Institutional Source

Beutler Lab

Gene Symbol

Samd8

Ensembl Gene

ENSMUSG00000021770

Gene Name

sterile alpha motif domain containing 8

Synonyms

MMRRC Submission

040760-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.424) question?

Stock #

R3801 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

21750531-21798726 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 21775065 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 30 (V30M)

Ref Sequence

ENSEMBL: ENSMUSP00000112803 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022292] [ENSMUST00000119430] [ENSMUST00000144061]

AlphaFold

Q9DA37

Predicted Effect

probably damaging
Transcript: ENSMUST00000022292
AA Change: V93M

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000022292
Gene: ENSMUSG00000021770
AA Change: V93M

Domain	Start	End	E-Value	Type
low complexity region	2	22	N/A	INTRINSIC
SAM	72	141	1.86e-3	SMART
transmembrane domain	215	237	N/A	INTRINSIC
transmembrane domain	262	284	N/A	INTRINSIC
transmembrane domain	297	319	N/A	INTRINSIC
Pfam:PAP2_C	355	428	3e-29	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000119430
AA Change: V30M

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000112803
Gene: ENSMUSG00000021770
AA Change: V30M

Domain	Start	End	E-Value	Type
SAM	9	78	1.86e-3	SMART
transmembrane domain	152	174	N/A	INTRINSIC
transmembrane domain	199	221	N/A	INTRINSIC
transmembrane domain	234	256	N/A	INTRINSIC
Pfam:PAP2_C	292	365	6.1e-31	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000144061

SMART Domains

Protein: ENSMUSP00000117603
Gene: ENSMUSG00000021770

Domain	Start	End	E-Value	Type
low complexity region	2	22	N/A	INTRINSIC

Meta Mutation Damage Score

0.1778

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased ceramide phosphoethanolamine synthase activity but normal liver, kidney and spleen histology. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011L22Rik	C	T	8: 79,248,293	E54K	probably benign	Het
Als2	A	C	1: 59,167,199	M1634R	probably damaging	Het
Ankfy1	T	C	11: 72,749,420	S531P	probably benign	Het
Atp6v1e1	A	G	6: 120,801,059	Y172H	probably benign	Het
Brd1	C	T	15: 88,717,040	V464M	probably damaging	Het
Btaf1	A	T	19: 36,986,548	T840S	probably benign	Het
Btaf1	A	T	19: 36,988,973	H1047L	probably benign	Het
Cacnb2	A	G	2: 14,824,263	D3G	possibly damaging	Het
Capn13	G	A	17: 73,339,401	P339L	probably benign	Het
Cgrrf1	G	T	14: 46,832,363	G30C	probably damaging	Het
Crnkl1	T	C	2: 145,919,795	D614G	probably benign	Het
Cyp2c23	C	T	19: 44,007,039	V430I	probably benign	Het
Dazl	G	A	17: 50,281,281	R289W	probably benign	Het
Dsg1b	C	T	18: 20,390,203	P96S	probably damaging	Het
Dusp14	A	G	11: 84,048,709	S169P	possibly damaging	Het
Egfem1	A	G	3: 29,151,926	D91G	probably benign	Het
Eif1	A	G	11: 100,320,824	K95E	probably damaging	Het
Fap	C	T	2: 62,546,650	V191I	probably benign	Het
Flnc	T	C	6: 29,447,404	Y1069H	probably damaging	Het
Fndc7	T	C	3: 108,869,148	T526A	possibly damaging	Het
Fras1	A	T	5: 96,733,932	T2508S	probably benign	Het
Gast	T	C	11: 100,336,810	S73P	probably damaging	Het
Grap2	A	G	15: 80,623,746	T4A	possibly damaging	Het
Grm8	T	G	6: 28,125,636	N164H	possibly damaging	Het
Hyal5	A	T	6: 24,876,524	H132L	probably benign	Het
Iqcm	C	A	8: 75,669,393	T188K	possibly damaging	Het
Kank4	A	G	4: 98,780,133	S26P	probably damaging	Het
Lipo1	C	T	19: 33,784,857	C80Y	probably damaging	Het
Lrrk2	A	G	15: 91,737,111	R963G	probably benign	Het
Lrtm2	G	A	6: 119,317,483	T229I	probably damaging	Het
Mb21d2	A	T	16: 28,828,003	D406E	possibly damaging	Het
Meikin	T	A	11: 54,399,871		probably null	Het
Mybl1	A	T	1: 9,673,214	F538I	probably damaging	Het
Nectin2	T	C	7: 19,717,636	D491G	probably benign	Het
Nf1	A	G	11: 79,559,521	D511G	probably null	Het
Nid2	T	C	14: 19,809,997	C1328R	probably damaging	Het
Nlrp1a	T	A	11: 71,122,703	M574L	probably benign	Het
Nrap	C	T	19: 56,321,779	D1595N	probably damaging	Het
Nrg3	G	A	14: 38,376,434	P496S	probably damaging	Het
Olfr1287	A	T	2: 111,449,565	I142F	probably benign	Het
Pak3	G	A	X: 143,709,731	V87I	probably damaging	Het
Phf8	T	C	X: 151,572,576	S512P	possibly damaging	Het
Phkb	G	T	8: 85,922,229	E225*	probably null	Het
Plaa	T	C	4: 94,569,888	D615G	probably damaging	Het
Prdm12	A	G	2: 31,651,947	K223E	probably damaging	Het
Prkd1	C	A	12: 50,383,422	R634L	possibly damaging	Het
Rassf3	T	A	10: 121,414,366	I181F	possibly damaging	Het
Sema4f	A	T	6: 82,918,627	H308Q	possibly damaging	Het
Skint4	G	T	4: 112,118,181	V113L	probably damaging	Het
Slc16a10	G	C	10: 40,056,624	H314D	possibly damaging	Het
Slpi	A	G	2: 164,356,238	L12P	probably damaging	Het
Smco1	A	G	16: 32,273,898	Y129C	probably benign	Het
Spag17	A	G	3: 100,053,853	K985R	possibly damaging	Het
Stc1	T	C	14: 69,038,475	I239T	probably benign	Het
Suclg2	A	T	6: 95,497,668	I372N	probably damaging	Het
Tmed4	C	A	11: 6,274,233	V80F	probably damaging	Het
Tnpo2	T	A	8: 85,055,171		probably null	Het
Top1	A	G	2: 160,702,768	H268R	probably damaging	Het
Triobp	A	T	15: 78,973,700	Q1167L	probably benign	Het
Txndc16	G	A	14: 45,151,352	P536L	possibly damaging	Het
Usp13	C	T	3: 32,881,508	A360V	possibly damaging	Het
Vhl	G	A	6: 113,629,462	V147I	probably benign	Het
Vldlr	A	T	19: 27,217,621	T3S	probably damaging	Het
Vps54	T	A	11: 21,268,832	D130E	probably benign	Het
Zfp808	T	A	13: 62,172,083	H375Q	probably damaging	Het
Zfp87	A	T	13: 67,521,215	N37K	probably damaging	Het

Other mutations in Samd8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01762:Samd8	APN	14	21780100	missense	probably damaging	1.00
IGL01837:Samd8	APN	14	21774959	splice site	probably benign
IGL02188:Samd8	APN	14	21783798	critical splice donor site	probably null
IGL02338:Samd8	APN	14	21775476	missense	possibly damaging	0.95
IGL02437:Samd8	APN	14	21775423	missense	probably benign	0.11
IGL02643:Samd8	APN	14	21793144	missense	probably damaging	1.00
skellington	UTSW	14	21783798	critical splice donor site	probably null
Stern	UTSW	14	21775153	missense	possibly damaging	0.79
wellington	UTSW	14	21775137	missense	probably damaging	1.00
R0993:Samd8	UTSW	14	21775495	missense	probably damaging	1.00
R1529:Samd8	UTSW	14	21775159	missense	possibly damaging	0.53
R2200:Samd8	UTSW	14	21775320	missense	probably benign	0.00
R3803:Samd8	UTSW	14	21775065	missense	probably damaging	0.99
R3981:Samd8	UTSW	14	21780180	missense	probably null	1.00
R4094:Samd8	UTSW	14	21793045	missense	probably damaging	1.00
R4232:Samd8	UTSW	14	21780145	missense	probably benign
R4847:Samd8	UTSW	14	21792435	missense	possibly damaging	0.65
R5402:Samd8	UTSW	14	21775168	missense	probably damaging	1.00
R5421:Samd8	UTSW	14	21792495	missense	probably damaging	1.00
R5955:Samd8	UTSW	14	21793084	missense	probably damaging	1.00
R6180:Samd8	UTSW	14	21775025	missense	probably benign	0.04
R6447:Samd8	UTSW	14	21792556	critical splice donor site	probably null
R6451:Samd8	UTSW	14	21783798	critical splice donor site	probably null
R6844:Samd8	UTSW	14	21775137	missense	probably damaging	1.00
R6914:Samd8	UTSW	14	21775153	missense	possibly damaging	0.79
R6942:Samd8	UTSW	14	21775153	missense	possibly damaging	0.79
R7101:Samd8	UTSW	14	21775374	missense	probably benign	0.00
R7485:Samd8	UTSW	14	21792423	missense	probably benign	0.00
R8256:Samd8	UTSW	14	21783677	critical splice acceptor site	probably null
R8280:Samd8	UTSW	14	21780151	nonsense	probably null
R9090:Samd8	UTSW	14	21792501	missense	probably damaging	1.00
R9271:Samd8	UTSW	14	21792501	missense	probably damaging	1.00
R9345:Samd8	UTSW	14	21780159	missense	probably benign	0.40

Predicted Primers

PCR Primer
(F):5'- GTGTACTTGCATCCAGAAACAAAAC -3'
(R):5'- ACTGTCACTGTTGTAGCCCATC -3'

Sequencing Primer
(F):5'- TTGCATCCAGAAACAAAACTTACCTG -3'
(R):5'- GTTGTAGCCCATCTCTTCCAAAAC -3'

Posted On

2015-03-25