Mutagenetix > Incidental Mutation

Incidental Mutation 'R7389:Cd163l1'

573307

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 #

R7389 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

140218267-140231145 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 140228791 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 872 (K872E)

Ref Sequence

ENSEMBL: ENSMUSP00000147864 (fasta)

Gene Model

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

AlphaFold

A0A1B0GSB0

Predicted Effect

probably damaging
Transcript: ENSMUST00000084460
AA Change: K872E

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000081497
Gene: ENSMUSG00000025461
AA Change: K872E

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

possibly damaging
Transcript: ENSMUST00000209398
AA Change: K872E

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

Predicted Effect

probably damaging
Transcript: ENSMUST00000209637
AA Change: K872E

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

Coding Region Coverage

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

Validation Efficiency

98% (49/50)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anxa11	C	A	14: 25,872,888	P182Q	probably damaging	Het
Asns	C	A	6: 7,689,291	L70F	probably damaging	Het
Cntrl	A	T	2: 35,127,517	K445N	probably benign	Het
Cyp2c50	G	T	19: 40,090,663	R150L	probably benign	Het
Dqx1	G	T	6: 83,064,794	S539I	probably null	Het
Dusp9	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	X: 73,640,611		probably benign	Het
Epha3	T	C	16: 63,772,984	E247G	probably damaging	Het
Etl4	C	T	2: 20,785,093	Q801*	probably null	Het
Fabp2	G	T	3: 122,895,365		probably benign	Het
Fsip2	G	A	2: 82,988,796	V4958I	possibly damaging	Het
Fstl3	G	A	10: 79,780,031	C117Y	probably damaging	Het
Hdgfl2	T	G	17: 56,099,389		probably null	Het
Igfn1	T	C	1: 135,967,047	D1927G	probably benign	Het
Ino80	A	C	2: 119,442,529	S489A	probably benign	Het
Krt15	A	T	11: 100,135,560	V100E	possibly damaging	Het
Lrriq3	A	G	3: 155,188,104	T481A	probably benign	Het
Map2k3	A	T	11: 60,932,036		probably benign	Het
Matr3	A	G	18: 35,584,585	T617A	probably benign	Het
Mybpc2	T	G	7: 44,505,604	T960P	probably benign	Het
Ncoa2	T	C	1: 13,186,825	N150S	possibly damaging	Het
Nup153	A	T	13: 46,700,987		probably null	Het
Obscn	A	G	11: 59,036,400	L5498P	probably benign	Het
Olfr111	A	G	17: 37,530,657	R227G	possibly damaging	Het
Olfr1444	G	T	19: 12,862,617	V281L	probably benign	Het
Paqr8	C	A	1: 20,935,165	P181Q	probably damaging	Het
Pcdhgb4	T	C	18: 37,722,363	Y604H	probably damaging	Het
Pja2	T	A	17: 64,297,727	E487V	probably damaging	Het
Pnpla6	C	T	8: 3,543,981	R1331*	probably null	Het
Ppl	T	A	16: 5,106,713		probably null	Het
Rhbdl3	T	A	11: 80,346,839	M299K	possibly damaging	Het
Slc26a9	A	G	1: 131,769,248	*791W	probably null	Het
Slc7a2	A	G	8: 40,912,515	Y461C	probably benign	Het
Sptb	G	T	12: 76,624,229	Q447K	probably damaging	Het
Ssh1	A	T	5: 113,958,831	I205N	probably benign	Het
Stab1	C	T	14: 31,147,239	V1511I	probably benign	Het
Tex19.1	T	C	11: 121,147,160	W115R	possibly damaging	Het
Tinf2	G	T	14: 55,680,710		probably null	Het
Tmeff1	A	G	4: 48,617,097		probably null	Het
Tnip2	G	T	5: 34,513,801	Q33K	probably benign	Het
Traf3	C	A	12: 111,237,753	L59M	probably damaging	Het
Trav14d-3-dv8	T	C	14: 53,078,871	Y63H	possibly damaging	Het
Trim11	C	T	11: 58,990,655	S458L	probably damaging	Het
Tspan18	A	T	2: 93,209,927	V161E	probably benign	Het
Usf3	T	A	16: 44,217,941	V928E	probably benign	Het
Usp29	G	A	7: 6,963,458	V767I	possibly damaging	Het
Usp34	T	G	11: 23,345,200	F287L		Het
Vmn1r213	T	C	13: 23,012,386	C380R	probably benign	Het
Zfyve9	A	G	4: 108,693,318		probably null	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
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

Predicted Primers

PCR Primer
(F):5'- ACAGTGTGTGACGACTCCTG -3'
(R):5'- ACAATGCAGTGGTCGTGGAG -3'

Sequencing Primer
(F):5'- TGACGACTCCTGGGACCTG -3'
(R):5'- CTGAAAGGTGCCAGCTTAGC -3'

Posted On

2019-09-13