Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02306:Cd163l1'

287579

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 #

IGL02306

Quality Score

Status

Chromosome

Chromosomal Location

140218267-140231145 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 140223356 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 278 (C278R)

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: C278R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000081497
Gene: ENSMUSG00000025461
AA Change: C278R

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: C278R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000209637
AA Change: C278R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	A	G	3: 122,158,395	Y680C	probably damaging	Het
Abcb11	C	T	2: 69,265,457	W846*	probably null	Het
Adam34	G	A	8: 43,650,485	R708C	probably benign	Het
Adam6a	T	A	12: 113,545,723	L572Q	possibly damaging	Het
Aldoart2	A	G	12: 55,565,704	Y138C	probably damaging	Het
Amigo1	T	A	3: 108,187,986	F267Y	probably benign	Het
Car7	A	G	8: 104,548,998	Y137C	probably damaging	Het
Ccar2	A	T	14: 70,142,022	M509K	probably benign	Het
Cd160	A	T	3: 96,808,823	I17N	possibly damaging	Het
Cmya5	C	T	13: 93,098,019	G187D	probably damaging	Het
Crot	A	T	5: 8,968,701	V555E	possibly damaging	Het
Cstf1	C	T	2: 172,372,971	T4I	probably benign	Het
Cyp2a12	A	G	7: 27,032,583	K250E	probably damaging	Het
Deaf1	T	C	7: 141,324,181		probably null	Het
Dse	C	T	10: 34,160,134	E249K	probably damaging	Het
E4f1	G	T	17: 24,446,929	R88S	probably damaging	Het
Fam160b2	T	C	14: 70,588,997	D217G	probably benign	Het
Fam83a	A	C	15: 57,995,308	D248A	probably damaging	Het
Hadhb	T	A	5: 30,166,749	L66Q	probably null	Het
Kalrn	T	C	16: 34,310,527	E440G	probably damaging	Het
Kif3b	A	G	2: 153,320,652	Y527C	probably damaging	Het
Krt4	T	C	15: 101,921,305	I263V	probably benign	Het
Krtap29-1	A	T	11: 99,978,266	V263E	probably damaging	Het
Mms19	A	G	19: 41,966,264	L72P	probably damaging	Het
Mylpf	T	A	7: 127,213,158		probably benign	Het
Nalcn	T	A	14: 123,323,338	I776F	probably benign	Het
Nedd4l	T	G	18: 65,172,954	S292R	possibly damaging	Het
Nlrc3	A	C	16: 3,964,824	D240E	probably damaging	Het
Obscn	A	T	11: 58,999,671	I7345N	unknown	Het
Olfr1189	A	T	2: 88,592,606	K267N	probably benign	Het
Ostn	A	T	16: 27,346,941	S127C	probably damaging	Het
Patl1	A	G	19: 11,942,886	K735E	possibly damaging	Het
Pde12	A	G	14: 26,668,378	L392P	possibly damaging	Het
Plxdc2	A	G	2: 16,660,774	I213V	probably benign	Het
Plxna4	T	A	6: 32,206,124	Y948F	probably benign	Het
Prlhr	A	T	19: 60,467,915	V71E	probably damaging	Het
Prlr	C	T	15: 10,328,674	P412S	probably benign	Het
Prmt9	A	G	8: 77,560,818	K196R	probably benign	Het
Rundc3a	T	A	11: 102,400,938	L387Q	probably damaging	Het
Ryr3	T	C	2: 112,834,114	I1611V	probably damaging	Het
Ryr3	A	G	2: 112,847,399		probably null	Het
Sfxn2	T	A	19: 46,590,548	M240K	probably damaging	Het
Skor2	T	C	18: 76,862,679	S901P	probably benign	Het
Smad4	T	C	18: 73,662,869		probably null	Het
Snrnp40	T	G	4: 130,365,100	C100W	probably benign	Het
Spink5	T	A	18: 43,964,444	D19E	probably damaging	Het
Sult1d1	T	A	5: 87,556,055		probably benign	Het
Wdr59	G	A	8: 111,492,733	L231F	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
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

2015-04-16