Mutagenetix > Incidental Mutation

Incidental Mutation 'R7380:Cd163l1'

572641

Institutional Source

Beutler Lab

Gene Symbol

Cd163l1

Ensembl Gene

ENSMUSG00000025461

Gene Name

CD163 molecule-like 1

Synonyms

E430002D04Rik, Scart1

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7380 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

140218267-140231145 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 140224877 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 598 (N598Y)

Ref Sequence

ENSEMBL: ENSMUSP00000147864 (fasta)

Gene Model

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

AlphaFold

A0A1B0GSB0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000084460
AA Change: N598Y

PolyPhen 2 Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000081497
Gene: ENSMUSG00000025461
AA Change: N598Y

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

possibly damaging
Transcript: ENSMUST00000209398
AA Change: N598Y

PolyPhen 2 Score 0.465 (Sensitivity: 0.89; Specificity: 0.90)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000209637
AA Change: N598Y

PolyPhen 2 Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

98% (79/81)

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1300017J02Rik	G	A	9: 103,279,481	Q127*	probably null	Het
1700030J22Rik	T	C	8: 116,973,637	T9A	probably benign	Het
Abcc5	A	T	16: 20,397,034	S414R	possibly damaging	Het
Acads	C	A	5: 115,110,998	Q365H	probably damaging	Het
Ankib1	G	T	5: 3,722,576	Q487K	probably benign	Het
BC034090	T	G	1: 155,232,483	S11R	probably damaging	Het
Car12	A	G	9: 66,747,663	N125S	probably benign	Het
Casq1	A	G	1: 172,216,849	V137A	probably benign	Het
Ccdc144b	T	A	3: 36,025,921	D229V	possibly damaging	Het
Cfap54	C	A	10: 93,047,978	V305F	probably damaging	Het
Clstn3	T	C	6: 124,456,989	E404G	probably benign	Het
Copg1	T	G	6: 87,893,842	L209R	probably damaging	Het
Cpb2	A	T	14: 75,256,009	Q42L	possibly damaging	Het
Cpd	G	A	11: 76,802,325	Q712*	probably null	Het
Csmd3	T	A	15: 47,586,965	Y2690F		Het
Dchs1	G	T	7: 105,758,628	T1999K	probably benign	Het
Ddx10	T	A	9: 53,240,486	T80S	probably damaging	Het
Dmtn	G	A	14: 70,617,328	T69I	probably damaging	Het
Dnah5	T	A	15: 28,370,378	H2821Q	probably damaging	Het
Fam162b	T	A	10: 51,590,476		probably benign	Het
Fam193b	A	C	13: 55,542,799	S717A	probably benign	Het
Far2	T	C	6: 148,180,995	F500L	unknown	Het
Focad	T	A	4: 88,274,198	V588D	unknown	Het
Gm12728	T	C	4: 105,794,396	F68L	probably damaging	Het
Gm1527	T	A	3: 28,920,472	M478K	probably benign	Het
Gpd2	A	T	2: 57,340,159	I308F	probably damaging	Het
Igf2bp3	T	C	6: 49,108,999	T249A	probably benign	Het
Igfn1	C	A	1: 135,962,008	V2434F	probably damaging	Het
Kdm5a	C	A	6: 120,405,918	Q737K	probably benign	Het
Khdrbs2	T	C	1: 32,333,604	S120P	unknown	Het
Lmx1a	T	C	1: 167,692,040	F46L	probably damaging	Het
Lrba	C	G	3: 86,325,074	T776R	probably damaging	Het
Lrrc8c	A	G	5: 105,607,835	N492S	possibly damaging	Het
Mapk3	A	T	7: 126,764,795	I365F		Het
Mcee	A	G	7: 64,411,909	I153M	possibly damaging	Het
Mllt3	T	C	4: 87,791,943	D415G	possibly damaging	Het
Muc4	A	T	16: 32,755,366	T1747S	unknown	Het
Myh14	A	T	7: 44,661,042	V139E	probably damaging	Het
Myo10	A	T	15: 25,779,620	I772L	probably benign	Het
Naa15	T	G	3: 51,459,847		probably null	Het
Nbeal1	T	A	1: 60,244,810	I841N	probably damaging	Het
Nf1	C	T	11: 79,546,276	T2006I	probably damaging	Het
Npr2	T	A	4: 43,641,254	W427R	probably damaging	Het
Nr1h3	A	T	2: 91,190,195	F324L	possibly damaging	Het
Obscn	T	C	11: 59,056,914	K4430E		Het
Olfr203	A	G	16: 59,304,028	R292G	probably damaging	Het
Olfr213	T	C	6: 116,540,933	L160P	probably benign	Het
Olfr396-ps1	T	A	11: 73,928,187	Y61N	possibly damaging	Het
Olfr791	A	T	10: 129,526,661	T145S	probably benign	Het
Osgin1	T	A	8: 119,445,431	H321Q	probably benign	Het
P4ha1	A	G	10: 59,350,451	I251V	probably benign	Het
Padi2	G	A	4: 140,917,686	W77*	probably null	Het
Pkd1	T	A	17: 24,581,642	I3086N	probably damaging	Het
Plk3	T	C	4: 117,131,153	N360S	probably benign	Het
Prr14	A	T	7: 127,476,442	S541C	probably null	Het
Ptch2	C	A	4: 117,114,646	Q1122K	possibly damaging	Het
Rab3gap1	T	C	1: 127,937,990	V764A	possibly damaging	Het
Rad50	T	C	11: 53,695,396	I258V	probably benign	Het
Rapgef3	G	T	15: 97,766,791	R64S	probably benign	Het
Rbm44	A	G	1: 91,152,216	N42S	possibly damaging	Het
Ring1	T	C	17: 34,021,720	Y361C	probably damaging	Het
Robo3	T	C	9: 37,418,556	T1155A	probably damaging	Het
Rsf1	GGCGG	GGCGGTGGCCGCGG	7: 97,579,915		probably benign	Het
Ryr3	T	C	2: 112,640,157	T4682A	probably damaging	Het
Sema7a	T	C	9: 57,961,564	V653A	unknown	Het
Slc16a13	T	C	11: 70,219,279	Y132C	probably damaging	Het
Slc24a1	A	G	9: 64,948,533	V364A	unknown	Het
Slc8a2	C	T	7: 16,134,353	A170V	probably damaging	Het
Slfn8	C	T	11: 83,003,740	R691Q	not run	Het
Snx2	T	C	18: 53,194,568	V122A	probably benign	Het
Sstr1	A	T	12: 58,213,280	M230L	probably benign	Het
Themis2	C	T	4: 132,786,217	V233I	possibly damaging	Het
Tmem106b	T	C	6: 13,078,168	S121P	probably damaging	Het
Tmem63c	A	G	12: 87,077,948	I529V	probably benign	Het
Tmem94	T	C	11: 115,796,145		probably null	Het
Trmt10c	A	T	16: 56,034,256	W339R	probably damaging	Het
Ugt2b1	A	T	5: 86,917,719	F487Y	not run	Het
Vmn2r91	T	A	17: 18,136,576	L835*	probably null	Het
Vps52	C	A	17: 33,958,309	N108K	possibly damaging	Het
Wdpcp	T	A	11: 21,711,585	C286S	possibly damaging	Het
Zfp959	T	A	17: 55,898,551	H529Q	possibly 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
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
R8535:Cd163l1	UTSW	7	140224721	missense	probably benign	0.06
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'- CCTCGTGATATCCAGTTAGGTGTG -3'
(R):5'- GCCATGCTTTTGATACTCCG -3'

Sequencing Primer
(F):5'- GTGACCTGGTCTCTCTGCAG -3'
(R):5'- ATACTCCGCTGCTAGTCCAGAG -3'

Posted On

2019-09-13