Mutagenetix > Incidental Mutation

Incidental Mutation 'R5421:Scart1'

426571

Institutional Source

Beutler Lab

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 #

R5421 (G1)

Quality Score

154

Status

Not validated

Chromosome

Chromosomal Location

139798180-139811058 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 139803813 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 337 (L337P)

Ref Sequence

ENSEMBL: ENSMUSP00000147699 (fasta)

Gene Model

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

AlphaFold

A0A1B0GSB0

Predicted Effect

probably damaging
Transcript: ENSMUST00000084460
AA Change: L337P

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

SMART Domains

Protein: ENSMUSP00000081497
Gene: ENSMUSG00000025461
AA Change: L337P

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 damaging
Transcript: ENSMUST00000209398
AA Change: L337P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000209637
AA Change: L337P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209840

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210159

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211540

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb1	A	T	15: 74,421,876 (GRCm39)	Q882L	probably damaging	Het
Afdn	T	C	17: 14,052,668 (GRCm39)	V525A	probably benign	Het
AI987944	T	C	7: 41,024,200 (GRCm39)	T263A	probably benign	Het
Aldh1l2	T	C	10: 83,363,271 (GRCm39)	S31G	probably damaging	Het
Asxl1	T	C	2: 153,241,504 (GRCm39)	S685P	probably benign	Het
Blnk	C	A	19: 40,956,967 (GRCm39)	V47F	probably damaging	Het
Bmp4	T	A	14: 46,623,355 (GRCm39)	M64L	probably damaging	Het
Bmpr2	T	A	1: 59,909,577 (GRCm39)	V1017E	possibly damaging	Het
C1ra	C	T	6: 124,499,749 (GRCm39)	P645L	probably benign	Het
Cadm2	A	T	16: 66,568,513 (GRCm39)	C248*	probably null	Het
Cdk6	T	C	5: 3,523,120 (GRCm39)	V180A	probably damaging	Het
Colec12	A	T	18: 9,858,580 (GRCm39)	R454S	probably damaging	Het
Dennd3	T	C	15: 73,438,964 (GRCm39)	S1111P	probably benign	Het
Dmxl1	T	C	18: 49,996,186 (GRCm39)		probably null	Het
Dnah2	G	A	11: 69,326,462 (GRCm39)	T3613I	probably damaging	Het
Elp6	A	G	9: 110,143,132 (GRCm39)	Q115R	probably benign	Het
Enpp1	A	G	10: 24,545,655 (GRCm39)	Y262H	probably damaging	Het
Far2	A	G	6: 148,047,690 (GRCm39)		probably null	Het
Flnb	C	T	14: 7,926,494 (GRCm38)	T1846I	probably damaging	Het
Folr2	C	T	7: 101,489,851 (GRCm39)	R139H	probably benign	Het
Fxn	A	T	19: 24,254,649 (GRCm39)		probably null	Het
Galnt13	A	C	2: 54,747,908 (GRCm39)	N263T	probably damaging	Het
Gje1	G	A	10: 14,592,428 (GRCm39)	S118L	probably damaging	Het
Htr5a	G	T	5: 28,055,985 (GRCm39)	W325C	possibly damaging	Het
Itga4	T	A	2: 79,146,385 (GRCm39)	Y772*	probably null	Het
Kif12	T	C	4: 63,089,665 (GRCm39)	S59G	probably benign	Het
Kifc3	C	T	8: 95,836,473 (GRCm39)	R96Q	probably damaging	Het
Klrd1	T	C	6: 129,575,406 (GRCm39)	Y191H	probably damaging	Het
Ndst3	A	T	3: 123,428,008 (GRCm39)		probably null	Het
Nek1	A	C	8: 61,459,711 (GRCm39)	R6S	possibly damaging	Het
Or4b13	G	A	2: 90,083,089 (GRCm39)	T81I	probably benign	Het
Or5p68	G	C	7: 107,946,182 (GRCm39)	A2G	probably benign	Het
Or6k8-ps1	C	T	1: 173,979,861 (GRCm39)	R260*	probably null	Het
Palld	C	T	8: 61,969,584 (GRCm39)	E1005K	probably damaging	Het
Ppp2r1a	T	A	17: 21,176,968 (GRCm39)	Y169N	probably benign	Het
Rad50	T	C	11: 53,565,773 (GRCm39)	D960G	probably benign	Het
Rad51ap2	A	T	12: 11,509,368 (GRCm39)	K915*	probably null	Het
Rasal2	T	C	1: 157,126,711 (GRCm39)	K109R	probably benign	Het
Rc3h1	G	A	1: 160,779,400 (GRCm39)		probably null	Het
Rnf6	C	T	5: 146,147,339 (GRCm39)	V560I	probably benign	Het
Samd8	A	G	14: 21,842,563 (GRCm39)	D295G	probably damaging	Het
Serpinb2	T	C	1: 107,451,581 (GRCm39)	Y245H	probably damaging	Het
Sh3bp5	C	A	14: 31,099,452 (GRCm39)	R265L	probably benign	Het
Slc28a3	A	T	13: 58,722,079 (GRCm39)	F268L	possibly damaging	Het
Slc7a14	T	C	3: 31,278,346 (GRCm39)	T420A	probably damaging	Het
Speer4f2	A	T	5: 17,579,356 (GRCm39)	T52S	possibly damaging	Het
Spta1	A	G	1: 174,043,095 (GRCm39)	N1414D	probably damaging	Het
Sptbn5	A	G	2: 119,911,261 (GRCm39)		noncoding transcript	Het
Syt9	T	C	7: 107,024,563 (GRCm39)	V152A	probably benign	Het
Thoc2l	A	T	5: 104,666,261 (GRCm39)	N261I	probably benign	Het
Tln1	G	A	4: 43,533,609 (GRCm39)	A2315V	possibly damaging	Het
Tox	C	A	4: 6,842,409 (GRCm39)	M40I	possibly damaging	Het
Ucp1	G	A	8: 84,017,320 (GRCm39)	A37T	probably benign	Het
Vapa	A	G	17: 65,902,031 (GRCm39)	V33A	possibly damaging	Het
Vmn2r110	A	G	17: 20,803,882 (GRCm39)	L231S	probably damaging	Het
Vmn2r15	C	T	5: 109,434,401 (GRCm39)	A768T	probably damaging	Het
Vmn2r86	T	C	10: 130,282,805 (GRCm39)	T604A	probably benign	Het
Vps51	T	G	19: 6,121,063 (GRCm39)	E283D	probably benign	Het
Wnk1	A	G	6: 119,929,779 (GRCm39)	V1246A	probably damaging	Het
Wwc1	C	T	11: 35,801,123 (GRCm39)	E105K	possibly damaging	Het
Wwc1	T	G	11: 35,766,890 (GRCm39)	D455A	possibly damaging	Het
Zfp426	G	A	9: 20,382,015 (GRCm39)	A309V	probably damaging	Het
Zfp626	T	A	7: 27,517,335 (GRCm39)	N105K	probably 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
IGL02457:Scart1	APN	7	139,800,308 (GRCm39)	missense	probably benign	0.07
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
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

Predicted Primers

PCR Primer
(F):5'- GCACAGGGATTTGTAGCCTG -3'
(R):5'- CCACACAATGAAATATGTCTGGCC -3'

Sequencing Primer
(F):5'- CACAGGGATTTGTAGCCTGCTTTG -3'
(R):5'- ATATGTCTGGCCAGATGAGATC -3'

Posted On

2016-09-01