Mutagenetix > Incidental Mutation

Incidental Mutation 'R1529:Samd8'

166488

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 #

R1529 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

21800599-21848794 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 21825227 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 124 (V124D)

Ref Sequence

ENSEMBL: ENSMUSP00000022292 (fasta)

Gene Model

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

AlphaFold

Q9DA37

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022292
AA Change: V124D

PolyPhen 2 Score 0.534 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000022292
Gene: ENSMUSG00000021770
AA Change: V124D

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 benign
Transcript: ENSMUST00000119430
AA Change: V61D

PolyPhen 2 Score 0.311 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000112803
Gene: ENSMUSG00000021770
AA Change: V61D

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.3%

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm3	T	C	3: 59,768,533 (GRCm39)	I21T	probably benign	Het
Adam11	T	C	11: 102,665,939 (GRCm39)		probably null	Het
Amd1	A	T	10: 40,166,501 (GRCm39)	M194K	probably benign	Het
Ap1b1	T	G	11: 4,989,547 (GRCm39)	F793C	probably damaging	Het
Arfgef3	G	A	10: 18,488,970 (GRCm39)	R1292*	probably null	Het
Arhgef5	C	A	6: 43,256,449 (GRCm39)	H1186N	probably damaging	Het
Atad1	A	G	19: 32,684,321 (GRCm39)	F26L	probably benign	Het
Atg2b	C	T	12: 105,627,392 (GRCm39)	V532I	probably benign	Het
Atp2b4	A	G	1: 133,645,726 (GRCm39)	F943L	probably damaging	Het
Atp7b	G	A	8: 22,518,740 (GRCm39)	L21F	possibly damaging	Het
Ccdc9b	T	A	2: 118,592,241 (GRCm39)		probably null	Het
Cenpf	A	T	1: 189,392,235 (GRCm39)	D532E	probably benign	Het
Cimip3	G	A	17: 47,724,815 (GRCm39)	S102L	probably benign	Het
Ckmt2	A	T	13: 92,009,320 (GRCm39)	D202E	probably benign	Het
Crim1	A	C	17: 78,675,383 (GRCm39)	K864T	probably benign	Het
Ctnnd2	A	G	15: 30,887,267 (GRCm39)	R765G	possibly damaging	Het
Ddx10	T	A	9: 53,028,499 (GRCm39)	R802*	probably null	Het
Dnah7b	T	A	1: 46,216,441 (GRCm39)	F1152L	probably damaging	Het
Dsg1c	T	C	18: 20,415,080 (GRCm39)	L659P	probably damaging	Het
Dzank1	A	G	2: 144,324,108 (GRCm39)	F577L	probably benign	Het
Eci3	T	C	13: 35,140,903 (GRCm39)	D93G	probably benign	Het
Ecpas	T	C	4: 58,832,701 (GRCm39)		probably null	Het
Ep400	C	A	5: 110,887,311 (GRCm39)	V591L	probably benign	Het
Fgd3	T	C	13: 49,420,170 (GRCm39)	N569S	probably benign	Het
Ghsr	T	A	3: 27,426,631 (GRCm39)	V229E	probably damaging	Het
Gna15	T	A	10: 81,345,176 (GRCm39)	I230F	probably damaging	Het
Gnl2	A	G	4: 124,940,099 (GRCm39)	S324G	probably damaging	Het
Grid1	T	C	14: 35,031,250 (GRCm39)	V281A	probably benign	Het
Hebp2	G	A	10: 18,421,509 (GRCm39)	A12V	possibly damaging	Het
Hfm1	T	C	5: 107,000,989 (GRCm39)	D1254G	probably benign	Het
Hif3a	A	C	7: 16,776,564 (GRCm39)	S459A	probably benign	Het
Hnrnpl	T	A	7: 28,513,348 (GRCm39)	N149K	possibly damaging	Het
Hoxc10	A	T	15: 102,875,635 (GRCm39)	S115C	probably damaging	Het
Hycc2	A	T	1: 58,578,766 (GRCm39)	D261E	probably benign	Het
Ifnab	T	C	4: 88,609,292 (GRCm39)	D58G	possibly damaging	Het
Itfg1	T	C	8: 86,537,243 (GRCm39)	T195A	probably benign	Het
Itpr3	T	A	17: 27,324,459 (GRCm39)		probably null	Het
Iws1	A	G	18: 32,213,334 (GRCm39)	D254G	probably benign	Het
Kl	C	A	5: 150,912,406 (GRCm39)	D718E	probably benign	Het
Lrit2	A	G	14: 36,790,784 (GRCm39)	I154M	probably benign	Het
Lrp2	T	C	2: 69,353,526 (GRCm39)	D578G	probably damaging	Het
Lss	T	G	10: 76,372,123 (GRCm39)	Y159*	probably null	Het
Mab21l1	C	A	3: 55,691,254 (GRCm39)	Y280*	probably null	Het
Maf	A	T	8: 116,419,909 (GRCm39)	S378T	probably benign	Het
Mast2	C	T	4: 116,287,716 (GRCm39)	V59I	probably benign	Het
Nisch	C	T	14: 30,902,895 (GRCm39)		probably benign	Het
Nova2	A	T	7: 18,691,479 (GRCm39)	N139Y	probably damaging	Het
Nup210	C	A	6: 91,013,358 (GRCm39)	D434Y	probably damaging	Het
Nvl	C	T	1: 180,936,724 (GRCm39)		probably null	Het
Or11g27	T	C	14: 50,771,159 (GRCm39)	S97P	possibly damaging	Het
Or51g2	A	G	7: 102,623,086 (GRCm39)	Y38H	probably damaging	Het
Or56b1	A	G	7: 104,285,696 (GRCm39)	T272A	probably benign	Het
Or8k18	A	T	2: 86,085,585 (GRCm39)	Y151N	probably damaging	Het
Or8k3b	A	G	2: 86,520,677 (GRCm39)	V214A	possibly damaging	Het
Pbx3	T	C	2: 34,094,871 (GRCm39)	Y255C	probably damaging	Het
Pcyt1a	G	A	16: 32,270,611 (GRCm39)	E27K	possibly damaging	Het
Pex6	A	T	17: 47,024,990 (GRCm39)	T348S	probably benign	Het
Phf21b	A	G	15: 84,681,597 (GRCm39)	I251T	probably damaging	Het
Pkd2l2	T	C	18: 34,563,755 (GRCm39)	I490T	probably damaging	Het
Pla2g12a	T	A	3: 129,672,534 (GRCm39)	L56Q	probably damaging	Het
Plk4	A	G	3: 40,760,971 (GRCm39)	T434A	probably benign	Het
Ptpn13	A	G	5: 103,711,998 (GRCm39)	N1632S	probably benign	Het
Rfpl4	C	T	7: 5,113,711 (GRCm39)	V151M	probably damaging	Het
Rpain	G	C	11: 70,865,741 (GRCm39)	E169Q	probably damaging	Het
Sdk2	C	T	11: 113,729,472 (GRCm39)		silent	Het
Slc12a1	C	T	2: 125,032,215 (GRCm39)	T622I	probably damaging	Het
Slc17a3	T	A	13: 24,029,428 (GRCm39)	V67D	probably damaging	Het
Slc41a3	G	T	6: 90,621,198 (GRCm39)	V387L	probably damaging	Het
Slitrk1	T	A	14: 109,150,709 (GRCm39)	M1L	probably benign	Het
Stat4	T	C	1: 52,050,952 (GRCm39)	W4R	probably damaging	Het
Tas2r126	A	G	6: 42,411,502 (GRCm39)	T12A	probably benign	Het
Tbc1d24	A	G	17: 24,404,953 (GRCm39)	C64R	probably damaging	Het
Tcaf2	T	C	6: 42,606,440 (GRCm39)	S505G	probably benign	Het
Tiam2	T	C	17: 3,566,978 (GRCm39)	V1506A	probably benign	Het
Tmem9b	A	C	7: 109,336,156 (GRCm39)	S163A	probably benign	Het
Tmtc2	G	A	10: 105,139,519 (GRCm39)	S669L	probably damaging	Het
Tnpo3	A	T	6: 29,560,220 (GRCm39)	I641K	possibly damaging	Het
Ttn	C	T	2: 76,565,711 (GRCm39)	A28214T	probably damaging	Het
Utp11	G	A	4: 124,577,032 (GRCm39)	A113V	probably benign	Het
Utp20	G	A	10: 88,588,868 (GRCm39)	R2434C	probably damaging	Het
Vmn1r60	A	T	7: 5,547,902 (GRCm39)	I66N	probably benign	Het
Zeb2	T	C	2: 44,887,206 (GRCm39)	E572G	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
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
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'- TAGTCAACTCTGCATTCGCCGC -3'
(R):5'- TGTCAGGCACACGCTCATGAAC -3'

Sequencing Primer
(F):5'- ATTCGCCGCTGGACTAC -3'
(R):5'- TCCAGTCTTCGAGCAGAATG -3'

Posted On

2014-04-13