Mutagenetix > Incidental Mutation

Incidental Mutation 'R5955:Samd8'

471142

Institutional Source

Beutler Lab

Gene Symbol

Samd8

Ensembl Gene

ENSMUSG00000021770

Gene Name

sterile alpha motif domain containing 8

Synonyms

1700010P07Rik, 1110053F04Rik, Smsr

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.364) question?

Stock #

R5955 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

21800599-21848794 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 21843152 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 364 (H364R)

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: H427R

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

SMART Domains

Protein: ENSMUSP00000022292
Gene: ENSMUSG00000021770
AA Change: H427R

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: H364R

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

SMART Domains

Protein: ENSMUSP00000112803
Gene: ENSMUSG00000021770
AA Change: H364R

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

noncoding transcript
Transcript: ENSMUST00000142023

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 93.7%

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	A	T	19: 43,801,629 (GRCm39)	D632V	probably damaging	Het
Acbd6	C	T	1: 155,463,205 (GRCm39)	A135V	probably benign	Het
Adam26a	A	T	8: 44,022,889 (GRCm39)	F200L	probably benign	Het
Ago3	A	T	4: 126,248,843 (GRCm39)	N569K	probably damaging	Het
Ak9	A	T	10: 41,234,560 (GRCm39)	L640F	probably damaging	Het
Ampd2	A	G	3: 107,987,088 (GRCm39)	V178A	probably damaging	Het
Anapc4	C	G	5: 53,023,288 (GRCm39)	H710D	probably benign	Het
Atad2	T	C	15: 57,969,055 (GRCm39)	I495V	probably benign	Het
Bhmt2	T	C	13: 93,799,705 (GRCm39)	T244A	probably benign	Het
Capg	T	C	6: 72,532,483 (GRCm39)	V16A	probably benign	Het
Capn13	A	G	17: 73,637,997 (GRCm39)	F469L	possibly damaging	Het
Ccdc149	C	T	5: 52,533,877 (GRCm39)	V430I	probably benign	Het
Cma1	A	C	14: 56,181,226 (GRCm39)	Y47D	probably benign	Het
Col6a3	A	T	1: 90,739,163 (GRCm39)	L355Q	probably damaging	Het
Cripto	C	A	9: 110,773,281 (GRCm39)	R18L	unknown	Het
Crocc	G	T	4: 140,745,229 (GRCm39)	T1796K	possibly damaging	Het
Cyp2c50	A	T	19: 40,079,387 (GRCm39)		probably null	Het
Dsp	T	C	13: 38,378,934 (GRCm39)	I1294T	possibly damaging	Het
Erbin	A	T	13: 103,966,700 (GRCm39)	F1250Y	probably benign	Het
Fbn1	A	C	2: 125,200,802 (GRCm39)	C1298W	probably damaging	Het
Fbn2	A	C	18: 58,177,328 (GRCm39)	F1990V	probably damaging	Het
Fez2	A	T	17: 78,694,472 (GRCm39)	V306D	probably damaging	Het
Gigyf1	G	A	5: 137,521,769 (GRCm39)		probably null	Het
Gjb4	A	T	4: 127,245,745 (GRCm39)	Y65*	probably null	Het
Gm26661	G	A	14: 7,791,776 (GRCm38)	A64T	unknown	Het
Igkv1-135	T	C	6: 67,587,263 (GRCm39)	S45P	possibly damaging	Het
Il27	T	C	7: 126,194,070 (GRCm39)	T5A	probably benign	Het
Il27ra	T	C	8: 84,767,451 (GRCm39)	D124G	probably benign	Het
Itgad	A	G	7: 127,788,653 (GRCm39)	H424R	probably benign	Het
Itgal	T	C	7: 126,904,161 (GRCm39)	V258A	possibly damaging	Het
Kpna4	A	G	3: 68,997,134 (GRCm39)	V351A	probably benign	Het
Lama5	T	C	2: 179,839,267 (GRCm39)	Q747R	probably damaging	Het
Map4k5	A	G	12: 69,891,164 (GRCm39)	F168L	probably damaging	Het
Mecom	A	G	3: 30,015,195 (GRCm39)	Y843H	probably damaging	Het
Mical3	T	C	6: 121,010,711 (GRCm39)	M424V	probably damaging	Het
Mtrfr	G	T	5: 124,478,837 (GRCm39)	E153*	probably null	Het
Myb	A	G	10: 21,028,398 (GRCm39)	I155T	probably damaging	Het
Nbea	A	T	3: 55,588,404 (GRCm39)	V2445E	probably benign	Het
Nlrp1b	A	T	11: 71,108,691 (GRCm39)	I270N	probably damaging	Het
Nlrp4f	A	T	13: 65,342,895 (GRCm39)	M250K	probably benign	Het
Or13c7	T	A	4: 43,854,898 (GRCm39)	N196K	probably damaging	Het
Or1e16	AGCGGTCGTAGGC	AGC	11: 73,286,480 (GRCm39)		probably null	Het
Or52w1	C	T	7: 105,017,776 (GRCm39)	A72V	probably damaging	Het
P4ha1	A	G	10: 59,178,618 (GRCm39)	S96G	probably benign	Het
Pcnt	G	T	10: 76,247,456 (GRCm39)	N1025K	possibly damaging	Het
Pgap4	T	C	4: 49,586,613 (GRCm39)	E185G	probably damaging	Het
Phactr4	A	G	4: 132,114,220 (GRCm39)	F58S	probably damaging	Het
Phlpp1	T	A	1: 106,291,960 (GRCm39)		probably null	Het
Rab40c	A	C	17: 26,103,631 (GRCm39)	V144G	probably damaging	Het
Rnasel	A	G	1: 153,630,146 (GRCm39)	I221V	probably benign	Het
Rps6kb1	T	C	11: 86,404,431 (GRCm39)	K241E	probably damaging	Het
Rrbp1	C	G	2: 143,791,597 (GRCm39)	E1370Q	probably benign	Het
Rttn	T	C	18: 89,139,133 (GRCm39)	Y2111H	probably damaging	Het
Scnm1	T	C	3: 95,037,596 (GRCm39)	I157V	probably benign	Het
Setdb1	A	G	3: 95,246,153 (GRCm39)	Y590H	probably damaging	Het
Shkbp1	T	C	7: 27,041,949 (GRCm39)	N635S	probably benign	Het
Trpm6	A	G	19: 18,869,383 (GRCm39)	D1990G	possibly damaging	Het
Usp48	A	G	4: 137,343,129 (GRCm39)	N426S	probably benign	Het
Vmn2r16	G	A	5: 109,511,613 (GRCm39)	V607M	possibly damaging	Het
Xdh	A	T	17: 74,205,315 (GRCm39)	V1050D	probably damaging	Het
Zfp110	C	T	7: 12,582,672 (GRCm39)	T440I	possibly damaging	Het

Other mutations in Samd8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01762:Samd8	APN	14	21,830,168 (GRCm39)	missense	probably damaging	1.00
IGL01837:Samd8	APN	14	21,825,027 (GRCm39)	splice site	probably benign
IGL02188:Samd8	APN	14	21,833,866 (GRCm39)	critical splice donor site	probably null
IGL02338:Samd8	APN	14	21,825,544 (GRCm39)	missense	possibly damaging	0.95
IGL02437:Samd8	APN	14	21,825,491 (GRCm39)	missense	probably benign	0.11
IGL02643:Samd8	APN	14	21,843,212 (GRCm39)	missense	probably damaging	1.00
skellington	UTSW	14	21,833,866 (GRCm39)	critical splice donor site	probably null
smithie	UTSW	14	21,842,569 (GRCm39)	missense	probably damaging	1.00
Stern	UTSW	14	21,825,221 (GRCm39)	missense	possibly damaging	0.79
wellington	UTSW	14	21,825,205 (GRCm39)	missense	probably damaging	1.00
R0993:Samd8	UTSW	14	21,825,563 (GRCm39)	missense	probably damaging	1.00
R1529:Samd8	UTSW	14	21,825,227 (GRCm39)	missense	possibly damaging	0.53
R2200:Samd8	UTSW	14	21,825,388 (GRCm39)	missense	probably benign	0.00
R3801:Samd8	UTSW	14	21,825,133 (GRCm39)	missense	probably damaging	0.99
R3803:Samd8	UTSW	14	21,825,133 (GRCm39)	missense	probably damaging	0.99
R3981:Samd8	UTSW	14	21,830,248 (GRCm39)	missense	probably null	1.00
R4094:Samd8	UTSW	14	21,843,113 (GRCm39)	missense	probably damaging	1.00
R4232:Samd8	UTSW	14	21,830,213 (GRCm39)	missense	probably benign
R4847:Samd8	UTSW	14	21,842,503 (GRCm39)	missense	possibly damaging	0.65
R5402:Samd8	UTSW	14	21,825,236 (GRCm39)	missense	probably damaging	1.00
R5421:Samd8	UTSW	14	21,842,563 (GRCm39)	missense	probably damaging	1.00
R6180:Samd8	UTSW	14	21,825,093 (GRCm39)	missense	probably benign	0.04
R6447:Samd8	UTSW	14	21,842,624 (GRCm39)	critical splice donor site	probably null
R6451:Samd8	UTSW	14	21,833,866 (GRCm39)	critical splice donor site	probably null
R6844:Samd8	UTSW	14	21,825,205 (GRCm39)	missense	probably damaging	1.00
R6914:Samd8	UTSW	14	21,825,221 (GRCm39)	missense	possibly damaging	0.79
R6942:Samd8	UTSW	14	21,825,221 (GRCm39)	missense	possibly damaging	0.79
R7101:Samd8	UTSW	14	21,825,442 (GRCm39)	missense	probably benign	0.00
R7485:Samd8	UTSW	14	21,842,491 (GRCm39)	missense	probably benign	0.00
R8256:Samd8	UTSW	14	21,833,745 (GRCm39)	critical splice acceptor site	probably null
R8280:Samd8	UTSW	14	21,830,219 (GRCm39)	nonsense	probably null
R9090:Samd8	UTSW	14	21,842,569 (GRCm39)	missense	probably damaging	1.00
R9271:Samd8	UTSW	14	21,842,569 (GRCm39)	missense	probably damaging	1.00
R9345:Samd8	UTSW	14	21,830,227 (GRCm39)	missense	probably benign	0.40
R9446:Samd8	UTSW	14	21,833,769 (GRCm39)	missense

Predicted Primers

PCR Primer
(F):5'- CCCTGAGAAACGTGGCTAAG -3'
(R):5'- GGAGCCTGGGACAAAGTATTC -3'

Sequencing Primer
(F):5'- CTAAGAAGCTTGGCAGGAATGTG -3'
(R):5'- GAGCCTGGGACAAAGTATTCATTTTC -3'

Posted On

2017-03-31