Mutagenetix > Incidental Mutation

Incidental Mutation 'R7722:Cd163l1'

595282

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 #

R7722 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

140218267-140231145 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 140222386 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 209 (C209*)

Ref Sequence

ENSEMBL: ENSMUSP00000147864 (fasta)

Gene Model

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

AlphaFold

A0A1B0GSB0

Predicted Effect

probably null
Transcript: ENSMUST00000084460
AA Change: C209*

SMART Domains

Protein: ENSMUSP00000081497
Gene: ENSMUSG00000025461
AA Change: C209*

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 null
Transcript: ENSMUST00000209398
AA Change: C209*

Predicted Effect

probably null
Transcript: ENSMUST00000209637
AA Change: C209*

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (57/58)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afdn	A	G	17: 13,808,969	E151G	probably benign	Het
Alpk2	A	T	18: 65,350,157	L260H	probably damaging	Het
Amh	T	C	10: 80,806,624	V247A	probably benign	Het
Ank2	T	A	3: 127,029,302	I431L	probably benign	Het
Ano7	G	A	1: 93,390,423	A286T	probably damaging	Het
Atp8a1	T	A	5: 67,622,698		probably null	Het
Brd1	A	T	15: 88,729,559	S378T	probably damaging	Het
Clrn1	T	A	3: 58,846,334	N202I	possibly damaging	Het
Cspp1	T	C	1: 10,074,901	V308A	probably benign	Het
Cyp2a5	T	C	7: 26,837,118	L174P	probably benign	Het
Ehbp1	G	A	11: 22,089,572	H843Y	probably null	Het
Fancm	T	A	12: 65,106,461	D1230E	probably damaging	Het
Fbxl17	A	T	17: 63,356,828	N555K	probably damaging	Het
Fmnl2	A	C	2: 53,054,467	S153R		Het
Fras1	G	A	5: 96,769,554	V3478M	probably damaging	Het
Gnptab	T	C	10: 88,379,528	F37S	probably damaging	Het
Gpr183	T	G	14: 121,954,858	I84L	probably damaging	Het
Hcn1	A	G	13: 117,902,778	H410R	unknown	Het
Hmcn1	A	G	1: 150,667,880	V2848A	probably damaging	Het
Hmcn2	A	T	2: 31,382,500	R1331*	probably null	Het
Hsd17b4	A	C	18: 50,146,524	N190T	probably damaging	Het
Kif14	A	G	1: 136,468,295	D113G	probably benign	Het
Kmt2e	T	G	5: 23,497,018	D881E	probably benign	Het
Lamb1	T	A	12: 31,323,571	L1481Q	probably damaging	Het
Limk2	T	C	11: 3,356,092		probably null	Het
Luc7l2	T	A	6: 38,603,308	S281T	unknown	Het
Map3k5	A	G	10: 20,132,145	D1240G	probably benign	Het
Med13l	C	A	5: 118,747,407	T1475K	probably benign	Het
Med17	G	T	9: 15,271,691	Q353K	probably benign	Het
Mlh3	A	G	12: 85,267,492	V640A	probably benign	Het
Mms22l	T	A	4: 24,517,201	Y361N	probably damaging	Het
Mtmr2	T	A	9: 13,804,808	N532K	probably benign	Het
Mtss1	G	A	15: 59,055,086	T47I	probably damaging	Het
Mturn	T	C	6: 54,699,560		probably null	Het
Muc20	A	C	16: 32,797,386	S3A	probably benign	Het
Nde1	T	C	16: 14,190,264	Y164H	unknown	Het
Neurl1b	A	G	17: 26,441,158	T451A	probably benign	Het
Olfr1537	A	T	9: 39,237,589	Y278*	probably null	Het
Olfr654	C	A	7: 104,588,298	Q165K	possibly damaging	Het
Pgap3	G	A	11: 98,390,784	A196V	probably benign	Het
Rsf1	GGCG	GGCGACGGCCGCG	7: 97,579,906		probably benign	Het
Sdcbp	T	A	4: 6,385,063	V94E	possibly damaging	Het
Sgo2a	T	G	1: 58,016,537	F627V	probably benign	Het
Skor2	A	C	18: 76,862,644	N889T	probably benign	Het
Slc35f4	A	T	14: 49,306,274	N288K	probably benign	Het
Slc9b2	T	A	3: 135,329,835	V355E	probably null	Het
Smarcc2	A	G	10: 128,481,728	E566G	possibly damaging	Het
Sorcs2	T	C	5: 36,043,527	E559G	probably damaging	Het
Sphkap	T	C	1: 83,278,921	D369G	probably benign	Het
Ssfa2	T	C	2: 79,662,345	S1079P	probably damaging	Het
Stc1	T	A	14: 69,032,280	I103N	possibly damaging	Het
Stx8	T	C	11: 68,203,718	V219A	probably damaging	Het
Tg	C	T	15: 66,764,309	R582C	possibly damaging	Het
Tshz2	T	A	2: 169,885,272	L596Q	probably benign	Het
Tti1	A	G	2: 158,007,607	Y571H	probably benign	Het
Zbtb40	A	G	4: 136,991,518	I956T	probably damaging	Het
Zfp990	A	C	4: 145,536,962	N177H	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
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
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'- CCCTGAGATCATGAATGTGAATGG -3'
(R):5'- TGCCAGAGCTTTCAATGCAG -3'

Sequencing Primer
(F):5'- TCATGAATGTGAATGGGGTGGACC -3'
(R):5'- GCCAGAGCTTTCAATGCAGAATTC -3'

Posted On

2019-11-12