Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01921:Cd163l1'

180101

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cd163l1

Ensembl Gene

ENSMUSG00000025461

Gene Name

CD163 molecule-like 1

Synonyms

E430002D04Rik, Scart1

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01921

Quality Score

Status

Chromosome

Chromosomal Location

140218267-140231145 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 140228719 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 848 (E848*)

Ref Sequence

ENSEMBL: ENSMUSP00000147699 (fasta)

Gene Model

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

AlphaFold

A0A1B0GSB0

Predicted Effect

probably null
Transcript: ENSMUST00000084460
AA Change: E848*

SMART Domains

Protein: ENSMUSP00000081497
Gene: ENSMUSG00000025461
AA Change: E848*

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 null
Transcript: ENSMUST00000209398
AA Change: E848*

Predicted Effect

probably null
Transcript: ENSMUST00000209637
AA Change: E848*

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agtpbp1	T	C	13: 59,512,483	T310A	possibly damaging	Het
Ccdc102a	T	C	8: 94,913,391	T92A	probably damaging	Het
Ciao1	C	T	2: 127,242,835	V328I	probably benign	Het
Col12a1	T	A	9: 79,650,017	Q1943L	possibly damaging	Het
Diaph1	T	C	18: 37,856,208	D898G	possibly damaging	Het
Dio3	A	T	12: 110,279,355	T42S	possibly damaging	Het
Dnah8	T	A	17: 30,736,141	I2048N	probably benign	Het
Egr2	T	A	10: 67,540,378		probably null	Het
Epc2	T	A	2: 49,532,197	Y368N	probably damaging	Het
Furin	A	G	7: 80,395,954		probably benign	Het
Gga1	T	C	15: 78,893,795	M620T	possibly damaging	Het
Gm21976	T	A	13: 98,305,321	Y45*	probably null	Het
Gm5346	C	A	8: 43,625,511	V559L	probably damaging	Het
Gpn1	T	C	5: 31,499,268	V105A	probably damaging	Het
Hoxb8	A	T	11: 96,284,355	N206I	probably damaging	Het
Kif15	T	A	9: 122,979,504	L67Q	probably damaging	Het
Krt40	T	A	11: 99,543,163		probably benign	Het
Mat1a	T	C	14: 41,114,335		probably benign	Het
Mkrn1	T	C	6: 39,405,913	D99G	possibly damaging	Het
Plxnb2	T	C	15: 89,164,271	Y645C	possibly damaging	Het
Ppp1r13b	A	G	12: 111,833,237	V702A	probably benign	Het
Ppp4r4	G	T	12: 103,576,310	M1I	probably null	Het
Prss21	T	A	17: 23,872,440	M217K	possibly damaging	Het
R3hcc1l	A	G	19: 42,563,781	S406G	possibly damaging	Het
Rfesd	T	C	13: 76,008,266	E7G	probably benign	Het
Ripk4	T	C	16: 97,743,365	E694G	possibly damaging	Het
Rlf	T	C	4: 121,146,746	D1679G	probably damaging	Het
Ryr2	C	T	13: 11,554,550	C4956Y	possibly damaging	Het
Uri1	T	A	7: 37,981,647	K111*	probably null	Het
Usf1	A	G	1: 171,416,856	E108G	possibly damaging	Het
Vmn1r71	C	A	7: 10,748,272	R163L	probably benign	Het
Vmn2r86	T	C	10: 130,455,741	T52A	probably benign	Het
Vmn2r-ps159	C	T	4: 156,338,254		noncoding transcript	Het
Washc5	A	T	15: 59,342,109		probably null	Het
Zfp583	T	C	7: 6,325,570	T7A	possibly damaging	Het
Zim1	T	G	7: 6,682,185		probably benign	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
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
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

Posted On

2014-05-07