Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02457:Scart1'

294458

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Scart1

Ensembl Gene

ENSMUSG00000025461

Gene Name

scavenger receptor family member expressed on T cells 1

Synonyms

E430002D04Rik, Cd163l1

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02457

Quality Score

Status

Chromosome

Chromosomal Location

139798180-139811058 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 139800308 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 30 (G30S)

Ref Sequence

ENSEMBL: ENSMUSP00000147864 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084460] [ENSMUST00000209398] [ENSMUST00000209637]

AlphaFold

A0A1B0GSB0

Predicted Effect

probably benign
Transcript: ENSMUST00000084460
AA Change: G30S

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000081497
Gene: ENSMUSG00000025461
AA Change: G30S

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
SR	32	132	1.45e-30	SMART
SR	139	230	4.28e-6	SMART
SR	235	333	2.76e-36	SMART
SR	335	435	1.32e-33	SMART
SR	441	541	5.01e-25	SMART
SR	546	646	7.16e-53	SMART
SR	651	752	3.44e-14	SMART
SR	780	880	8.96e-45	SMART
low complexity region	882	898	N/A	INTRINSIC
transmembrane domain	907	929	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209376

Predicted Effect

probably benign
Transcript: ENSMUST00000209398
AA Change: G30S

PolyPhen 2 Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)

Predicted Effect

probably benign
Transcript: ENSMUST00000209637
AA Change: G30S

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209840

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210159

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211540

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd16b	A	G	2: 181,136,127 (GRCm39)	D343G	probably benign	Het
Acot10	T	C	15: 20,666,229 (GRCm39)	S171G	possibly damaging	Het
Actr3b	T	C	5: 26,054,160 (GRCm39)		probably null	Het
Adamts17	T	C	7: 66,677,562 (GRCm39)	M492T	probably damaging	Het
Akap4	A	C	X: 6,943,707 (GRCm39)	N670T	probably benign	Het
Atrip	A	G	9: 108,894,299 (GRCm39)	S55P	possibly damaging	Het
Bend3	A	T	10: 43,385,946 (GRCm39)	E113V	probably damaging	Het
Ccdc158	A	C	5: 92,797,907 (GRCm39)	I411S	probably damaging	Het
Cfap97	G	T	8: 46,623,315 (GRCm39)	C235F	possibly damaging	Het
Chil4	T	C	3: 106,121,715 (GRCm39)	N45D	probably benign	Het
Cripto	C	T	9: 110,771,691 (GRCm39)	C32Y	probably damaging	Het
D430041D05Rik	A	G	2: 104,079,690 (GRCm39)	V1131A	probably damaging	Het
Defb38	T	C	8: 19,076,552 (GRCm39)		probably benign	Het
Dnah10	T	A	5: 124,866,860 (GRCm39)	W2260R	probably damaging	Het
Ecsit	A	G	9: 21,989,500 (GRCm39)	S14P	probably damaging	Het
Eif3l	T	C	15: 78,962,296 (GRCm39)	F106L	probably benign	Het
Erich5	G	T	15: 34,470,999 (GRCm39)	G76V	probably damaging	Het
Evpl	A	G	11: 116,120,939 (GRCm39)	L432P	possibly damaging	Het
Fbxw10	T	C	11: 62,765,808 (GRCm39)	F698L	probably damaging	Het
Frem2	A	T	3: 53,428,470 (GRCm39)	S2866T	probably damaging	Het
Fuca1	G	A	4: 135,662,073 (GRCm39)	V334I	probably benign	Het
Hprt1	T	A	X: 52,091,010 (GRCm39)	H60Q	probably benign	Het
Kirrel2	T	C	7: 30,152,165 (GRCm39)	N481S	probably damaging	Het
Krt16	A	T	11: 100,137,162 (GRCm39)		probably benign	Het
Lilrb4b	T	A	10: 51,357,334 (GRCm39)	Y57N	probably benign	Het
Lix1l	A	G	3: 96,521,792 (GRCm39)	Y126C	probably damaging	Het
Lox	T	C	18: 52,654,388 (GRCm39)	D347G	probably damaging	Het
Mak16	C	T	8: 31,654,753 (GRCm39)	R147Q	possibly damaging	Het
Ndst2	G	A	14: 20,779,622 (GRCm39)	A206V	possibly damaging	Het
Or1ak2	A	T	2: 36,827,760 (GRCm39)	I210F	probably damaging	Het
Or2q1	T	A	6: 42,795,176 (GRCm39)	I257N	probably damaging	Het
Phldb1	T	C	9: 44,627,771 (GRCm39)	M225V	probably benign	Het
Pofut1	C	T	2: 153,090,516 (GRCm39)	Q137*	probably null	Het
Polr2a	T	C	11: 69,634,076 (GRCm39)		probably benign	Het
Prdm5	T	A	6: 65,858,100 (GRCm39)	L388Q	probably damaging	Het
Rad51c	A	G	11: 87,271,681 (GRCm39)	S344P	possibly damaging	Het
Sdk1	C	T	5: 141,938,771 (GRCm39)	P398L	probably damaging	Het
Sec63	G	A	10: 42,677,729 (GRCm39)		probably benign	Het
Sgo1	A	T	17: 53,983,989 (GRCm39)	L463Q	probably damaging	Het
Slc5a6	A	G	5: 31,198,002 (GRCm39)	L291P	probably damaging	Het
Smarcb1	T	C	10: 75,757,205 (GRCm39)	T9A	probably benign	Het
Sp3	A	G	2: 72,801,813 (GRCm39)	W67R	probably damaging	Het
Ssxb9	A	C	X: 21,041,234 (GRCm39)	S23A	probably benign	Het
Syne1	A	G	10: 5,292,167 (GRCm39)	L1367S	probably damaging	Het
Tbc1d23	T	A	16: 56,990,754 (GRCm39)	I690F	probably damaging	Het
Tmed5	A	T	5: 108,272,416 (GRCm39)	S227R	probably benign	Het
Tnrc6c	T	A	11: 117,613,803 (GRCm39)	S814T	probably benign	Het
Trbv2	C	T	6: 41,024,905 (GRCm39)	T107I	probably benign	Het
Trpm6	T	C	19: 18,803,155 (GRCm39)	V866A	probably damaging	Het
Trpm6	A	T	19: 18,804,762 (GRCm39)	K905*	probably null	Het
Ttn	A	G	2: 76,539,654 (GRCm39)	V34444A	probably benign	Het
Vmn1r86	C	T	7: 12,836,707 (GRCm39)	M56I	probably benign	Het
Vmn2r17	A	C	5: 109,601,012 (GRCm39)	D770A	probably damaging	Het
Wnk4	T	C	11: 101,160,389 (GRCm39)		probably benign	Het
Xaf1	T	C	11: 72,194,257 (GRCm39)	M46T	possibly damaging	Het

Other mutations in Scart1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01329:Scart1	APN	7	139,804,552 (GRCm39)	critical splice donor site	probably null
IGL01921:Scart1	APN	7	139,808,632 (GRCm39)	nonsense	probably null
IGL02168:Scart1	APN	7	139,803,399 (GRCm39)	missense	probably benign	0.02
IGL02306:Scart1	APN	7	139,803,269 (GRCm39)	missense	probably damaging	1.00
IGL02323:Scart1	APN	7	139,808,572 (GRCm39)	missense	probably benign	0.10
IGL02543:Scart1	APN	7	139,800,491 (GRCm39)	missense	probably benign	0.00
IGL02831:Scart1	APN	7	139,808,434 (GRCm39)	missense	probably benign	0.14
IGL03289:Scart1	APN	7	139,808,973 (GRCm39)	critical splice donor site	probably null
lop	UTSW	7	139,804,376 (GRCm39)	missense	possibly damaging	0.91
R0357:Scart1	UTSW	7	139,807,808 (GRCm39)	missense	probably damaging	1.00
R0513:Scart1	UTSW	7	139,804,873 (GRCm39)	nonsense	probably null
R1023:Scart1	UTSW	7	139,804,376 (GRCm39)	missense	possibly damaging	0.91
R1519:Scart1	UTSW	7	139,808,069 (GRCm39)	missense	probably benign	0.07
R1711:Scart1	UTSW	7	139,800,522 (GRCm39)	missense	probably damaging	1.00
R2327:Scart1	UTSW	7	139,803,890 (GRCm39)	missense	possibly damaging	0.48
R4957:Scart1	UTSW	7	139,808,435 (GRCm39)	missense	probably damaging	0.99
R5421:Scart1	UTSW	7	139,803,813 (GRCm39)	missense	probably damaging	1.00
R5422:Scart1	UTSW	7	139,804,068 (GRCm39)	missense	probably benign	0.03
R5851:Scart1	UTSW	7	139,807,940 (GRCm39)	missense	possibly damaging	0.93
R5906:Scart1	UTSW	7	139,808,712 (GRCm39)	missense	probably damaging	1.00
R5930:Scart1	UTSW	7	139,810,359 (GRCm39)	missense	probably benign	0.32
R6376:Scart1	UTSW	7	139,808,642 (GRCm39)	missense	probably damaging	1.00
R7380:Scart1	UTSW	7	139,804,790 (GRCm39)	missense	possibly damaging	0.47
R7389:Scart1	UTSW	7	139,808,704 (GRCm39)	missense	possibly damaging	0.95
R7466:Scart1	UTSW	7	139,800,619 (GRCm39)	critical splice donor site	probably null
R7686:Scart1	UTSW	7	139,802,116 (GRCm39)	nonsense	probably null
R7722:Scart1	UTSW	7	139,802,299 (GRCm39)	nonsense	probably null
R8535:Scart1	UTSW	7	139,804,634 (GRCm39)	missense	probably benign	0.06
R8900:Scart1	UTSW	7	139,808,478 (GRCm39)	nonsense	probably null
R9041:Scart1	UTSW	7	139,808,503 (GRCm39)	missense	probably damaging	1.00
R9116:Scart1	UTSW	7	139,808,277 (GRCm39)	missense	probably benign
R9319:Scart1	UTSW	7	139,807,940 (GRCm39)	missense	possibly damaging	0.93
Z1176:Scart1	UTSW	7	139,804,770 (GRCm39)	missense	probably benign	0.17
Z1186:Scart1	UTSW	7	139,804,403 (GRCm39)	missense	possibly damaging	0.71

Posted On

2015-04-16