Mutagenetix > Incidental Mutation

Incidental Mutation 'R4094:Samd8'

317823

Institutional Source

Beutler Lab

Gene Symbol

Samd8

Ensembl Gene

ENSMUSG00000021770

Gene Name

sterile alpha motif domain containing 8

Synonyms

1700010P07Rik, 1110053F04Rik, Smsr

MMRRC Submission

041628-MU

Accession Numbers

Essential gene?

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

Stock #

R4094 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

21800599-21848794 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 21843113 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 414 (I414T)

Ref Sequence

ENSEMBL: ENSMUSP00000022292 (fasta)

Gene Model

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

AlphaFold

Q9DA37

Predicted Effect

probably damaging
Transcript: ENSMUST00000022292
AA Change: I414T

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

SMART Domains

Protein: ENSMUSP00000022292
Gene: ENSMUSG00000021770
AA Change: I414T

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: I351T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000112803
Gene: ENSMUSG00000021770
AA Change: I351T

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: 99.2%
3x: 98.6%
10x: 97.5%
20x: 95.8%

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	A	G	11: 110,071,192 (GRCm39)	C1500R	probably damaging	Het
Amz1	A	T	5: 140,737,921 (GRCm39)	M93L	probably damaging	Het
Asb18	A	T	1: 89,942,147 (GRCm39)	N51K	probably damaging	Het
Bcl11b	G	T	12: 107,883,094 (GRCm39)	P335Q	probably damaging	Het
Bsn	A	C	9: 107,991,069 (GRCm39)	V1561G	probably damaging	Het
Cadm2	A	T	16: 66,679,685 (GRCm39)	N49K	probably damaging	Het
Cct8	T	G	16: 87,284,516 (GRCm39)	I283L	possibly damaging	Het
Cdc25b	A	G	2: 131,031,037 (GRCm39)	M121V	probably benign	Het
Cpne4	A	G	9: 104,563,734 (GRCm39)	D37G	probably damaging	Het
Cym	A	G	3: 107,121,582 (GRCm39)	S237P	probably benign	Het
Dhx35	T	A	2: 158,684,276 (GRCm39)	I517N	probably damaging	Het
Ehf	T	C	2: 103,121,095 (GRCm39)		probably benign	Het
Erp29	A	G	5: 121,590,345 (GRCm39)		probably benign	Het
Fgd6	C	A	10: 93,879,296 (GRCm39)	P50Q	probably damaging	Het
Fhip1b	T	C	7: 105,037,425 (GRCm39)	D386G	probably damaging	Het
Foxn3	G	T	12: 99,162,700 (GRCm39)	D400E	probably damaging	Het
Frmd4a	A	G	2: 4,615,843 (GRCm39)	Y1031C	probably damaging	Het
Gna13	T	A	11: 109,287,242 (GRCm39)	I355N	probably damaging	Het
Hgs	T	A	11: 120,359,859 (GRCm39)	L21*	probably null	Het
Htr2a	G	A	14: 74,943,789 (GRCm39)	M456I	probably benign	Het
Itga2	T	C	13: 115,007,161 (GRCm39)	D389G	probably benign	Het
Kdm1b	T	C	13: 47,216,496 (GRCm39)	C289R	probably damaging	Het
Kdm4c	T	A	4: 74,229,915 (GRCm39)	D237E	probably benign	Het
Lilrb4b	A	T	10: 51,357,506 (GRCm39)	E114V	probably damaging	Het
Loxl1	G	A	9: 58,219,739 (GRCm39)	T144I	probably damaging	Het
Macf1	C	T	4: 123,353,062 (GRCm39)	R1784Q	probably benign	Het
Maml2	G	A	9: 13,531,449 (GRCm39)	S221N	probably benign	Het
Map3k1	A	G	13: 111,892,696 (GRCm39)	M853T	possibly damaging	Het
Micu3	T	G	8: 40,788,929 (GRCm39)	S147A	probably null	Het
Nccrp1	T	C	7: 28,243,651 (GRCm39)	Y261C	possibly damaging	Het
Or51aa5	T	A	7: 103,167,244 (GRCm39)	I116F	possibly damaging	Het
Or5m5	A	G	2: 85,814,562 (GRCm39)	Y126C	probably damaging	Het
Or8k18	T	C	2: 86,085,674 (GRCm39)	D121G	probably damaging	Het
Or8s10	T	C	15: 98,335,563 (GRCm39)	L71P	probably damaging	Het
Pclo	C	A	5: 14,905,659 (GRCm39)	T4963N	unknown	Het
Pdxk	T	C	10: 78,300,644 (GRCm39)	H13R	probably damaging	Het
Plcg1	A	G	2: 160,589,761 (GRCm39)	E95G	probably damaging	Het
Ppargc1a	T	C	5: 51,647,406 (GRCm39)	N276S	possibly damaging	Het
Prr12	A	G	7: 44,697,371 (GRCm39)	L848P	unknown	Het
Ptcd2	A	G	13: 99,468,957 (GRCm39)	I202T	probably damaging	Het
Rab27a	A	C	9: 72,982,826 (GRCm39)	I44L	probably damaging	Het
Rbfox2	A	T	15: 77,016,925 (GRCm39)	S82T	probably damaging	Het
Rsbn1	T	A	3: 103,835,974 (GRCm39)	F337L	probably damaging	Het
Sema3e	A	G	5: 14,283,704 (GRCm39)	I478V	probably benign	Het
Sfswap	A	G	5: 129,637,805 (GRCm39)	S821G	possibly damaging	Het
Slc2a3	A	T	6: 122,712,527 (GRCm39)	I239N	probably benign	Het
Spc25	G	A	2: 69,032,975 (GRCm39)	S50L	probably damaging	Het
St8sia4	A	T	1: 95,555,411 (GRCm39)	S206R	possibly damaging	Het
Syngr3	G	A	17: 24,908,817 (GRCm39)		probably benign	Het
Tigd4	A	G	3: 84,501,947 (GRCm39)	D288G	probably damaging	Het
Trim34b	A	G	7: 103,983,795 (GRCm39)	M251V	probably benign	Het
Ttll5	A	T	12: 86,003,376 (GRCm39)	R214*	probably null	Het
Ttn	T	C	2: 76,730,860 (GRCm39)		probably benign	Het
Vmp1	A	G	11: 86,534,406 (GRCm39)	I167T	probably benign	Het
Zfp64	T	C	2: 168,767,855 (GRCm39)	T586A	probably benign	Het
Zfp943	T	A	17: 22,211,963 (GRCm39)	C350S	probably damaging	Het
Zscan4f	A	T	7: 11,135,185 (GRCm39)	N197I	probably 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
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
R5955:Samd8	UTSW	14	21,843,152 (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'- CTACCCTGAGAAACGTGGCTAAG -3'
(R):5'- AGGAGCCTGGGACAAAGTATTC -3'

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

Posted On

2015-05-15