Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02437:Samd8'

293319

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL02437

Quality Score

Status

Chromosome

Chromosomal Location

21800599-21848794 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 21825491 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 212 (Y212C)

Ref Sequence

ENSEMBL: ENSMUSP00000022292 (fasta)

Gene Model

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

AlphaFold

Q9DA37

Predicted Effect

probably benign
Transcript: ENSMUST00000022292
AA Change: Y212C

PolyPhen 2 Score 0.111 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000022292
Gene: ENSMUSG00000021770
AA Change: Y212C

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: Y149C

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000112803
Gene: ENSMUSG00000021770
AA Change: Y149C

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

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930011G23Rik	A	G	5: 99,377,236 (GRCm39)	S404P	probably damaging	Het
A930011G23Rik	G	A	5: 99,377,241 (GRCm39)	P402L	probably damaging	Het
Abca16	T	G	7: 120,132,952 (GRCm39)	C1294G	probably benign	Het
Abca7	T	A	10: 79,844,223 (GRCm39)	S1410T	probably damaging	Het
Abhd12	T	C	2: 150,676,289 (GRCm39)	D356G	probably benign	Het
BC004004	T	C	17: 29,517,671 (GRCm39)	L295P	probably damaging	Het
Bpifc	T	C	10: 85,824,595 (GRCm39)	S215G	probably damaging	Het
Bptf	C	T	11: 106,965,521 (GRCm39)	M1109I	probably benign	Het
Brat1	C	T	5: 140,698,563 (GRCm39)	A245V	possibly damaging	Het
Cask	G	A	X: 13,403,860 (GRCm39)	T16I	probably damaging	Het
Cemip2	T	C	19: 21,789,342 (GRCm39)		probably null	Het
Cibar2	T	C	8: 120,901,525 (GRCm39)	E60G	probably damaging	Het
Clic6	A	T	16: 92,327,817 (GRCm39)	I541F	probably damaging	Het
Clnk	C	T	5: 38,931,909 (GRCm39)		probably null	Het
Cntnap1	T	A	11: 101,077,677 (GRCm39)	I1113N	probably damaging	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Cyp26a1	T	C	19: 37,686,943 (GRCm39)	S132P	probably benign	Het
Cyp4f13	G	T	17: 33,149,582 (GRCm39)	H85N	probably benign	Het
Dcaf15	C	T	8: 84,828,445 (GRCm39)	G215D	probably damaging	Het
Dip2a	T	C	10: 76,134,101 (GRCm39)	T500A	probably benign	Het
Gbe1	T	A	16: 70,231,546 (GRCm39)		probably benign	Het
Gli2	T	A	1: 118,763,733 (GRCm39)	I1473F	probably damaging	Het
Gm5129	A	T	5: 29,940,861 (GRCm39)		probably benign	Het
Hdgf	C	T	3: 87,821,792 (GRCm39)	R168C	probably damaging	Het
Heph	A	G	X: 95,516,633 (GRCm39)	T342A	probably benign	Het
Kdelr3	T	C	15: 79,409,988 (GRCm39)	Y158H	probably damaging	Het
Lamb3	C	T	1: 193,010,253 (GRCm39)	R289C	probably damaging	Het
Leng8	C	T	7: 4,145,092 (GRCm39)	A164V	probably damaging	Het
Ltn1	T	C	16: 87,194,889 (GRCm39)	T1337A	probably benign	Het
Mast3	C	A	8: 71,233,202 (GRCm39)	R316L	possibly damaging	Het
Nampt	A	G	12: 32,880,215 (GRCm39)	Y36C	probably damaging	Het
Ncapd3	T	A	9: 26,975,264 (GRCm39)		probably benign	Het
Nipbl	T	C	15: 8,388,558 (GRCm39)	D354G	probably damaging	Het
Nsd1	A	T	13: 55,461,254 (GRCm39)	R2494W	probably damaging	Het
Nt5c1a	A	G	4: 123,108,034 (GRCm39)	N239S	probably benign	Het
Ogfr	A	G	2: 180,231,329 (GRCm39)	E19G	possibly damaging	Het
Or11h4b	A	T	14: 50,918,657 (GRCm39)	S145T	probably benign	Het
Or4c58	A	G	2: 89,675,128 (GRCm39)	L63P	probably damaging	Het
Pcna	A	T	2: 132,093,155 (GRCm39)		probably benign	Het
Pdia3	T	A	2: 121,264,129 (GRCm39)	V326E	probably damaging	Het
Phf8	T	A	X: 150,414,356 (GRCm39)	L1002Q	possibly damaging	Het
Rhobtb2	T	C	14: 70,033,365 (GRCm39)	E535G	probably damaging	Het
Rusc2	G	T	4: 43,415,545 (GRCm39)	D284Y	probably damaging	Het
Sash3	C	A	X: 47,247,672 (GRCm39)	Q169K	probably benign	Het
Scyl1	C	T	19: 5,816,224 (GRCm39)	G324S	probably damaging	Het
Sec62	G	A	3: 30,872,996 (GRCm39)	G360R	unknown	Het
Sis	T	C	3: 72,826,947 (GRCm39)		probably null	Het
Slc6a1	T	A	6: 114,285,578 (GRCm39)	I338N	probably damaging	Het
Snrnp200	A	G	2: 127,058,030 (GRCm39)	D264G	probably damaging	Het
Tgm3	G	T	2: 129,871,961 (GRCm39)		probably null	Het
Tnrc6b	T	G	15: 80,764,658 (GRCm39)	L720R	probably damaging	Het
Tspyl4	A	T	10: 34,174,228 (GRCm39)	Q240L	probably damaging	Het
Tube1	G	A	10: 39,016,846 (GRCm39)	V80I	probably damaging	Het
Uap1l1	C	T	2: 25,253,945 (GRCm39)	V304M	probably damaging	Het
Wtap	T	C	17: 13,186,620 (GRCm39)	N309S	probably benign	Het
Zfp518a	G	A	19: 40,903,061 (GRCm39)	G997R	probably damaging	Het
Zfyve26	T	C	12: 79,315,621 (GRCm39)	D1285G	probably benign	Het
Zscan20	G	A	4: 128,482,210 (GRCm39)	T484I	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
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
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

Posted On

2015-04-16