Mutagenetix > Incidental Mutation

Incidental Mutation 'R4957:Scart1'

381651

Institutional Source

Beutler Lab

Gene Symbol

Scart1

Ensembl Gene

ENSMUSG00000025461

Gene Name

scavenger receptor family member expressed on T cells 1

Synonyms

E430002D04Rik, Cd163l1

MMRRC Submission

042554-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4957 (G1)

Quality Score

222

Status

Validated

Chromosome

Chromosomal Location

139798180-139811058 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 139808435 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 782 (V782A)

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: V782A

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000081497
Gene: ENSMUSG00000025461
AA Change: V782A

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: V782A

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000209637
AA Change: V782A

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209840

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210159

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211540

Meta Mutation Damage Score

0.2979

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.5%

Validation Efficiency

99% (80/81)

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110009E18Rik	G	C	1: 120,096,840 (GRCm39)		probably benign	Het
3110009E18Rik	C	T	1: 120,096,850 (GRCm39)		probably benign	Het
3110009E18Rik	G	T	1: 120,096,849 (GRCm39)		probably benign	Het
6820408C15Rik	T	A	2: 152,286,013 (GRCm39)	V342D	probably damaging	Het
Arhgap33	C	T	7: 30,231,786 (GRCm39)	G101R	probably damaging	Het
Atf7ip	C	T	6: 136,583,808 (GRCm39)	R1280C	probably damaging	Het
Cacnb4	T	C	2: 52,448,303 (GRCm39)	H8R	probably damaging	Het
Ccdc150	T	A	1: 54,404,027 (GRCm39)		probably benign	Het
Cd74	A	G	18: 60,942,109 (GRCm39)	N113D	probably benign	Het
Cdc25b	T	C	2: 131,035,525 (GRCm39)	V341A	possibly damaging	Het
Clptm1l	T	A	13: 73,759,315 (GRCm39)	I245N	possibly damaging	Het
Clptm1l	T	C	13: 73,760,547 (GRCm39)	I310T	probably damaging	Het
Creb5	A	T	6: 53,670,907 (GRCm39)		probably null	Het
Crebbp	T	C	16: 3,935,231 (GRCm39)	Q460R	probably benign	Het
Dnah17	A	T	11: 117,965,124 (GRCm39)	I2306N	probably benign	Het
Dync1h1	C	A	12: 110,624,560 (GRCm39)	T3700N	probably damaging	Het
Elovl1	A	T	4: 118,289,120 (GRCm39)	H215L	probably damaging	Het
Enkd1	A	G	8: 106,431,121 (GRCm39)	I202T	probably benign	Het
Epha7	C	T	4: 28,871,892 (GRCm39)	A407V	probably damaging	Het
Ercc3	G	T	18: 32,376,170 (GRCm39)	G130W	probably damaging	Het
Fbxl8	A	G	8: 105,994,827 (GRCm39)	E113G	probably damaging	Het
Frmpd1	T	G	4: 45,273,099 (GRCm39)	N339K	probably damaging	Het
Frrs1	G	A	3: 116,678,897 (GRCm39)	D240N	probably benign	Het
Gemin2	A	G	12: 59,063,954 (GRCm39)	S105G	probably benign	Het
Glra1	T	A	11: 55,418,224 (GRCm39)	I257F	probably damaging	Het
Gmcl1	G	A	6: 86,687,503 (GRCm39)	P354S	probably damaging	Het
Gpr15	G	T	16: 58,538,537 (GRCm39)	A184E	probably damaging	Het
Grm7	G	A	6: 111,335,824 (GRCm39)	G745E	probably damaging	Het
H2-T10	T	A	17: 36,428,308 (GRCm39)		probably benign	Het
Hdac5	C	A	11: 102,096,082 (GRCm39)		probably benign	Het
Ift22	G	A	5: 136,937,070 (GRCm39)		probably benign	Het
Ighg3	T	C	12: 113,324,750 (GRCm39)	E34G	unknown	Het
Itga11	A	T	9: 62,674,930 (GRCm39)	T821S	probably benign	Het
Lmod2	T	C	6: 24,603,871 (GRCm39)	V282A	possibly damaging	Het
Maml2	A	G	9: 13,531,572 (GRCm39)	K262R	probably damaging	Het
Mme	T	A	3: 63,250,910 (GRCm39)		probably benign	Het
Mnat1	A	G	12: 73,170,652 (GRCm39)	Y14C	probably damaging	Het
Mtdh	A	T	15: 34,083,281 (GRCm39)	T34S	possibly damaging	Het
Ncaph	T	C	2: 126,963,177 (GRCm39)	D352G	possibly damaging	Het
Or2t43	A	G	11: 58,457,344 (GRCm39)	Y276H	probably damaging	Het
Or4f17-ps1	C	A	2: 111,358,569 (GRCm39)	N321K	probably benign	Het
Or5m9b	T	A	2: 85,905,854 (GRCm39)	Y257N	probably damaging	Het
Or9g8	T	C	2: 85,607,459 (GRCm39)	F177S	probably damaging	Het
Pcdhb13	T	A	18: 37,577,837 (GRCm39)	D738E	possibly damaging	Het
Pla2g4f	C	T	2: 120,130,980 (GRCm39)	R825Q	probably benign	Het
Pnliprp2	C	T	19: 58,763,577 (GRCm39)	L409F	possibly damaging	Het
Prlr	G	T	15: 10,319,281 (GRCm39)	C70F	probably damaging	Het
Ptpn14	C	T	1: 189,583,469 (GRCm39)	T772I	probably benign	Het
Ryr2	T	C	13: 11,799,966 (GRCm39)	Q927R	probably damaging	Het
Scarf1	A	G	11: 75,416,460 (GRCm39)	E634G	probably benign	Het
Skic3	T	G	13: 76,333,232 (GRCm39)		probably null	Het
Slc39a14	A	T	14: 70,553,260 (GRCm39)	S158R	probably damaging	Het
Slc9c1	A	T	16: 45,365,194 (GRCm39)	T176S	probably benign	Het
Srsf10	T	C	4: 135,583,541 (GRCm39)	S2P	probably damaging	Het
Tcam1	T	A	11: 106,173,705 (GRCm39)	C50S	probably damaging	Het
Tcf7l2	A	G	19: 55,919,864 (GRCm39)		probably null	Het
Tdrd3	T	A	14: 87,743,223 (GRCm39)	H390Q	probably benign	Het
Tlk2	T	C	11: 105,144,185 (GRCm39)		probably null	Het
Tnc	G	C	4: 63,894,793 (GRCm39)	P1531R	probably damaging	Het
Tnfrsf1b	C	A	4: 144,973,327 (GRCm39)	Q15H	probably damaging	Het
Tnfrsf1b	T	G	4: 144,973,328 (GRCm39)	Q15P	possibly damaging	Het
Tssk4	A	T	14: 55,889,266 (GRCm39)	E264V	probably damaging	Het
Ugt3a1	G	A	15: 9,365,274 (GRCm39)	V296I	probably benign	Het
Usp5	C	G	6: 124,799,593 (GRCm39)	K318N	possibly damaging	Het
Vmn2r8	T	G	5: 108,947,129 (GRCm39)	E541A	probably benign	Het
Ybx1	A	T	4: 119,136,135 (GRCm39)		probably benign	Het
Zfp39	T	A	11: 58,782,057 (GRCm39)	Y235F	possibly damaging	Het
Zfp422	T	A	6: 116,603,904 (GRCm39)	K32*	probably null	Het
Zpbp2	T	A	11: 98,442,150 (GRCm39)		probably null	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
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

Predicted Primers

PCR Primer
(F):5'- ACAGGGCATTTAACACCAATGG -3'
(R):5'- GAACACCTGCATCCTCCTTGTG -3'

Sequencing Primer
(F):5'- GCATTTAACACCAATGGCTGTG -3'
(R):5'- TGCGTGCAGTCTCCATG -3'

Posted On

2016-04-27