Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02457:Cd163l1'

294458

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 #

IGL02457

Quality Score

Status

Chromosome

Chromosomal Location

140218267-140231145 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 140220395 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 30 (G30S)

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: G30S

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000081497
Gene: ENSMUSG00000025461
AA Change: G30S

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 benign
Transcript: ENSMUST00000209398
AA Change: G30S

PolyPhen 2 Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)

Predicted Effect

probably benign
Transcript: ENSMUST00000209637
AA Change: G30S

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd16b	A	G	2: 181,494,334	D343G	probably benign	Het
Acot10	T	C	15: 20,666,143	S171G	possibly damaging	Het
Actr3b	T	C	5: 25,849,162		probably null	Het
Adamts17	T	C	7: 67,027,814	M492T	probably damaging	Het
Akap4	A	C	X: 7,077,468	N670T	probably benign	Het
Atrip	A	G	9: 109,065,231	S55P	possibly damaging	Het
Bend3	A	T	10: 43,509,950	E113V	probably damaging	Het
Ccdc158	A	C	5: 92,650,048	I411S	probably damaging	Het
Cfap97	G	T	8: 46,170,278	C235F	possibly damaging	Het
Chil4	T	C	3: 106,214,399	N45D	probably benign	Het
D430041D05Rik	A	G	2: 104,249,345	V1131A	probably damaging	Het
Defb38	T	C	8: 19,026,536		probably benign	Het
Dnah10	T	A	5: 124,789,796	W2260R	probably damaging	Het
Ecsit	A	G	9: 22,078,204	S14P	probably damaging	Het
Eif3l	T	C	15: 79,078,096	F106L	probably benign	Het
Erich5	G	T	15: 34,470,853	G76V	probably damaging	Het
Evpl	A	G	11: 116,230,113	L432P	possibly damaging	Het
Fbxw10	T	C	11: 62,874,982	F698L	probably damaging	Het
Frem2	A	T	3: 53,521,049	S2866T	probably damaging	Het
Fuca1	G	A	4: 135,934,762	V334I	probably benign	Het
Hprt	T	A	X: 53,002,133	H60Q	probably benign	Het
Kirrel2	T	C	7: 30,452,740	N481S	probably damaging	Het
Krt16	A	T	11: 100,246,336		probably benign	Het
Lilr4b	T	A	10: 51,481,238	Y57N	probably benign	Het
Lix1l	A	G	3: 96,614,476	Y126C	probably damaging	Het
Lox	T	C	18: 52,521,316	D347G	probably damaging	Het
Mak16	C	T	8: 31,164,725	R147Q	possibly damaging	Het
Ndst2	G	A	14: 20,729,554	A206V	possibly damaging	Het
Olfr356	A	T	2: 36,937,748	I210F	probably damaging	Het
Olfr450	T	A	6: 42,818,242	I257N	probably damaging	Het
Phldb1	T	C	9: 44,716,474	M225V	probably benign	Het
Pofut1	C	T	2: 153,248,596	Q137*	probably null	Het
Polr2a	T	C	11: 69,743,250		probably benign	Het
Prdm5	T	A	6: 65,881,116	L388Q	probably damaging	Het
Rad51c	A	G	11: 87,380,855	S344P	possibly damaging	Het
Sdk1	C	T	5: 141,953,016	P398L	probably damaging	Het
Sec63	G	A	10: 42,801,733		probably benign	Het
Sgo1	A	T	17: 53,676,961	L463Q	probably damaging	Het
Slc5a6	A	G	5: 31,040,658	L291P	probably damaging	Het
Smarcb1	T	C	10: 75,921,371	T9A	probably benign	Het
Sp3	A	G	2: 72,971,469	W67R	probably damaging	Het
Ssxb9	A	C	X: 21,174,995	S23A	probably benign	Het
Syne1	A	G	10: 5,342,167	L1367S	probably damaging	Het
Tbc1d23	T	A	16: 57,170,391	I690F	probably damaging	Het
Tdgf1	C	T	9: 110,942,623	C32Y	probably damaging	Het
Tmed5	A	T	5: 108,124,550	S227R	probably benign	Het
Tnrc6c	T	A	11: 117,722,977	S814T	probably benign	Het
Trbv2	C	T	6: 41,047,971	T107I	probably benign	Het
Trpm6	T	C	19: 18,825,791	V866A	probably damaging	Het
Trpm6	A	T	19: 18,827,398	K905*	probably null	Het
Ttn	A	G	2: 76,709,310	V34444A	probably benign	Het
Vmn1r86	C	T	7: 13,102,780	M56I	probably benign	Het
Vmn2r17	A	C	5: 109,453,146	D770A	probably damaging	Het
Wnk4	T	C	11: 101,269,563		probably benign	Het
Xaf1	T	C	11: 72,303,431	M46T	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
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

2015-04-16