Mutagenetix > Incidental Mutation

Incidental Mutation 'R8535:Cd163l1'

659204

Institutional Source

Beutler Lab

Gene Symbol

Cd163l1

Ensembl Gene

ENSMUSG00000025461

Gene Name

CD163 molecule-like 1

Synonyms

E430002D04Rik, Scart1

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8535 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

140218267-140231145 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 140224721 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 546 (V546M)

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: V546M

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000081497
Gene: ENSMUSG00000025461
AA Change: V546M

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

probably benign
Transcript: ENSMUST00000209398
AA Change: V546M

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)

Predicted Effect

probably benign
Transcript: ENSMUST00000209637
AA Change: V546M

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (34/34)

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl6	A	T	11: 54,338,502	I362F	probably damaging	Het
Anks1b	T	A	10: 90,948,631	S1154T	probably benign	Het
Bsn	G	A	9: 108,111,452	A2367V	probably benign	Het
Chd7	T	A	4: 8,859,211	S2434T	possibly damaging	Het
Crybg2	T	C	4: 134,081,203	S1372P	probably damaging	Het
Dock5	A	G	14: 67,793,976	Y1002H	probably benign	Het
Dst	T	C	1: 34,186,001	S1163P	probably damaging	Het
Dusp27	T	C	1: 166,101,161	D294G	probably benign	Het
Fah	A	T	7: 84,601,097	S14T	probably benign	Het
Gcnt7	T	C	2: 172,454,546	I119M	possibly damaging	Het
Gja10	G	A	4: 32,602,274	L37F	probably damaging	Het
Gm10750	A	G	2: 149,015,968	V121A	unknown	Het
Klhl25	G	A	7: 75,866,095	V250I	probably benign	Het
Kmt2a	A	C	9: 44,819,515	S200R	possibly damaging	Het
Map1b	T	A	13: 99,435,154	D353V	probably damaging	Het
Myh8	G	A	11: 67,278,915	R20Q	probably damaging	Het
Olfr1262	G	A	2: 90,003,167	V254M	probably benign	Het
Olfr764-ps1	T	C	10: 129,034,023	Y273C	probably damaging	Het
Pcnt	G	A	10: 76,420,205	R734W	probably damaging	Het
Pkn3	A	T	2: 30,079,924		probably null	Het
Ptpn21	T	A	12: 98,680,026	T1058S	probably damaging	Het
Ryr3	A	G	2: 112,949,088		probably null	Het
Sardh	T	A	2: 27,239,645	I263F	probably damaging	Het
Sh3bp5	A	G	14: 31,417,418	V66A	probably benign	Het
Taf4b	T	A	18: 14,822,138	S583T	probably damaging	Het
Tbcb	G	A	7: 30,226,996	P132L	probably benign	Het
Tcirg1	A	G	19: 3,896,324	I791T	probably damaging	Het
Tmeff2	T	A	1: 51,181,826	V320D	probably damaging	Het
Tnfrsf19	T	C	14: 60,970,968	E368G	probably benign	Het
Trdv2-1	T	A	14: 53,946,515	I67N	probably damaging	Het
Unc13c	G	A	9: 73,540,371	T1849I	probably benign	Het
Vav2	G	A	2: 27,271,829	T655I	probably damaging	Het
Vps50	T	C	6: 3,565,612	Y517H	possibly damaging	Het
Wdr27	G	A	17: 14,903,537	T558I	possibly damaging	Het
Yeats2	C	T	16: 20,159,176	R137W	probably damaging	Het

Other mutations in Cd163l1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01329:Cd163l1	APN	7	140224639	critical splice donor site	probably null
IGL01921:Cd163l1	APN	7	140228719	nonsense	probably null
IGL02168:Cd163l1	APN	7	140223486	missense	probably benign	0.02
IGL02306:Cd163l1	APN	7	140223356	missense	probably damaging	1.00
IGL02323:Cd163l1	APN	7	140228659	missense	probably benign	0.10
IGL02457:Cd163l1	APN	7	140220395	missense	probably benign	0.07
IGL02543:Cd163l1	APN	7	140220578	missense	probably benign	0.00
IGL02831:Cd163l1	APN	7	140228521	missense	probably benign	0.14
IGL03289:Cd163l1	APN	7	140229060	critical splice donor site	probably null
lop	UTSW	7	140224463	missense	possibly damaging	0.91
R0357:Cd163l1	UTSW	7	140227895	missense	probably damaging	1.00
R0513:Cd163l1	UTSW	7	140224960	nonsense	probably null
R1023:Cd163l1	UTSW	7	140224463	missense	possibly damaging	0.91
R1519:Cd163l1	UTSW	7	140228156	missense	probably benign	0.07
R1711:Cd163l1	UTSW	7	140220609	missense	probably damaging	1.00
R2327:Cd163l1	UTSW	7	140223977	missense	possibly damaging	0.48
R4957:Cd163l1	UTSW	7	140228522	missense	probably damaging	0.99
R5421:Cd163l1	UTSW	7	140223900	missense	probably damaging	1.00
R5422:Cd163l1	UTSW	7	140224155	missense	probably benign	0.03
R5851:Cd163l1	UTSW	7	140228027	missense	possibly damaging	0.93
R5906:Cd163l1	UTSW	7	140228799	missense	probably damaging	1.00
R5930:Cd163l1	UTSW	7	140230446	missense	probably benign	0.32
R6376:Cd163l1	UTSW	7	140228729	missense	probably damaging	1.00
R7380:Cd163l1	UTSW	7	140224877	missense	possibly damaging	0.47
R7389:Cd163l1	UTSW	7	140228791	missense	possibly damaging	0.95
R7466:Cd163l1	UTSW	7	140220706	critical splice donor site	probably null
R7686:Cd163l1	UTSW	7	140222203	nonsense	probably null
R7722:Cd163l1	UTSW	7	140222386	nonsense	probably null
R8900:Cd163l1	UTSW	7	140228565	nonsense	probably null
R9041:Cd163l1	UTSW	7	140228590	missense	probably damaging	1.00
R9116:Cd163l1	UTSW	7	140228364	missense	probably benign
R9319:Cd163l1	UTSW	7	140228027	missense	possibly damaging	0.93
Z1176:Cd163l1	UTSW	7	140224857	missense	probably benign	0.17
Z1186:Cd163l1	UTSW	7	140224490	missense	possibly damaging	0.71

Predicted Primers

PCR Primer
(F):5'- ATGATGCTCCAGCTCCTATTTTCAG -3'
(R):5'- ATCCATCCAGATGTGCCCAG -3'

Sequencing Primer
(F):5'- CTGCCTGGGCTCTGAGACTC -3'
(R):5'- AGATGTGCCCAGTCCCC -3'

Posted On

2021-01-18