Mutagenetix > Incidental Mutation

Incidental Mutation 'R7686:Cd163l1'

593095

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 #

R7686 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

140218267-140231145 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 140222203 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 148 (C148*)

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: C148*

SMART Domains

Protein: ENSMUSP00000081497
Gene: ENSMUSG00000025461
AA Change: C148*

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: C148*

Predicted Effect

probably null
Transcript: ENSMUST00000209637
AA Change: C148*

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (78/78)

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5830411N06Rik	A	G	7: 140,249,052	N208S	probably benign	Het
9930021J03Rik	A	T	19: 29,717,470	I1541N	probably benign	Het
Acadl	A	T	1: 66,848,398		probably null	Het
Adgrg5	A	T	8: 94,937,802	I347F		Het
Agmo	T	C	12: 37,419,974	V431A	probably benign	Het
Arl14epl	A	G	18: 46,932,456	D96G	probably damaging	Het
Asxl1	C	T	2: 153,391,614	S113F	probably damaging	Het
Axdnd1	A	T	1: 156,395,464	C81*	probably null	Het
Bloc1s3	C	T	7: 19,507,606		probably benign	Het
Bmper	C	G	9: 23,399,544	L425V	probably benign	Het
Bok	A	T	1: 93,695,100	T194S	probably benign	Het
Bpifa5	A	T	2: 154,165,512	I125L	probably benign	Het
Brpf3	T	C	17: 28,806,934	I327T	probably damaging	Het
Camk1	T	A	6: 113,336,197	N297Y	probably damaging	Het
Catsper2	C	T	2: 121,397,456		probably null	Het
Ccdc171	A	T	4: 83,657,319	N480I	unknown	Het
Cd83	A	G	13: 43,785,372	M22V	probably benign	Het
Col1a2	A	G	6: 4,518,964	D243G	unknown	Het
Crat	C	T	2: 30,404,565	R497Q	probably benign	Het
Ctla4	A	T	1: 60,912,593	T94S	probably benign	Het
Cyp2b19	T	C	7: 26,762,343	F196S	probably damaging	Het
Dhx32	A	T	7: 133,759,701	M1K	probably null	Het
Epha3	T	A	16: 63,773,288	I146F	probably damaging	Het
Erbb2	T	A	11: 98,435,573	S1008T	probably benign	Het
Esp34	A	G	17: 38,559,643	R143G	possibly damaging	Het
Fam135b	T	C	15: 71,463,384	K654E	possibly damaging	Het
Fgr	T	C	4: 132,998,013	M343T	probably benign	Het
Fibcd1	T	G	2: 31,833,868	D253A	probably damaging	Het
Foxk1	C	T	5: 142,401,870	S116L	probably damaging	Het
Gimap8	G	A	6: 48,656,072	G275E	probably damaging	Het
Glp1r	T	C	17: 30,925,659	Y269H	probably damaging	Het
Gm5136	T	C	10: 108,699,440	E218G	probably damaging	Het
Gm9008	A	T	6: 76,497,030	L201H	probably damaging	Het
Hist2h2ac	T	C	3: 96,220,570	E92G	probably damaging	Het
Lbr	A	G	1: 181,817,521	F522S	probably damaging	Het
Lca5	T	C	9: 83,395,239	N684S	probably benign	Het
Leng8	C	A	7: 4,143,505	S372*	probably null	Het
Lrp2	A	G	2: 69,489,237	Y1981H	probably damaging	Het
Lrrc37a	T	G	11: 103,498,236	Q2121P	unknown	Het
Lrrn2	A	G	1: 132,938,594	T466A	probably benign	Het
Map3k19	A	T	1: 127,822,248	L1122*	probably null	Het
Mfsd6	T	C	1: 52,662,395	E632G	probably benign	Het
Mfsd6l	C	T	11: 68,557,226	A301V	probably benign	Het
Mro	A	T	18: 73,877,439	M197L	probably benign	Het
Ncam2	A	T	16: 81,621,454	E799V	probably damaging	Het
Nek9	A	T	12: 85,303,659	D880E	probably benign	Het
Ntng1	T	A	3: 109,935,014	I148L	possibly damaging	Het
Olfr1378	A	G	11: 50,969,755	T246A	possibly damaging	Het
Olfr205	T	A	16: 59,329,016	R164S	probably damaging	Het
P2ry13	C	T	3: 59,210,018	G113D	probably damaging	Het
Pnpt1	A	T	11: 29,157,070	T687S	probably damaging	Het
Pou2af1	T	C	9: 51,238,186	Y193H	probably damaging	Het
Ppp1r14c	T	A	10: 3,463,396	I143N	probably damaging	Het
Ppp1r16a	A	T	15: 76,694,583	S496C	probably benign	Het
Prdm12	G	A	2: 31,640,217	R40Q	probably damaging	Het
Rabepk	C	T	2: 34,779,296	G362S	probably damaging	Het
Rftn1	G	T	17: 50,047,380	A318D	probably damaging	Het
Robo2	C	A	16: 73,958,405	V743F	probably damaging	Het
Smg1	A	T	7: 118,167,858	Y1804N	unknown	Het
Ssh2	A	G	11: 77,425,324	E257G	possibly damaging	Het
Stoml3	T	C	3: 53,503,168	I101T	probably damaging	Het
Stxbp5	T	C	10: 9,769,410	D950G	probably damaging	Het
Syt10	T	C	15: 89,814,157	D328G	probably damaging	Het
Taf3	T	C	2: 9,951,488	K623E	probably damaging	Het
Tas2r134	T	A	2: 51,628,243	S245T	possibly damaging	Het
Tfap2b	G	C	1: 19,214,287	D140H	probably damaging	Het
Tjp3	C	T	10: 81,278,051	V458I	probably benign	Het
Tnpo3	G	T	6: 29,562,900	S606*	probably null	Het
Tram1l1	T	C	3: 124,321,310	F40L	probably benign	Het
Ttc29	A	T	8: 78,393,130	T464S	probably benign	Het
Txndc9	A	T	1: 37,987,768	M192K	probably benign	Het
Urb2	C	A	8: 124,045,172	A1444E	probably benign	Het
Uty	G	A	Y: 1,158,075	T657I	possibly damaging	Het
Vmn1r1	A	T	1: 182,158,025	V25D	probably damaging	Het
Vmn2r65	A	T	7: 84,940,536	I724N	probably damaging	Het
Xkr6	C	T	14: 63,606,846	T106M	possibly damaging	Het
Zc3h18	G	A	8: 122,413,876	R850Q	unknown	Het
Zfp341	A	G	2: 154,624,861	E50G	probably damaging	Het
Zfp62	C	A	11: 49,217,158	A692E	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
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
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'- GCTTCTGGGCCTATCGTATG -3'
(R):5'- AGATGACTTCTGCATCCAGC -3'

Sequencing Primer
(F):5'- CCTATCGTATGTGGCTGGGGAAG -3'
(R):5'- ATCCAGCAGCAGGTTGC -3'

Posted On

2019-11-12