Mutagenetix > Incidental Mutation

Incidental Mutation 'R5906:Cd163l1'

460637

Institutional Source

Beutler Lab

Gene Symbol

Cd163l1

Ensembl Gene

ENSMUSG00000025461

Gene Name

CD163 molecule-like 1

Synonyms

E430002D04Rik, Scart1

MMRRC Submission

044103-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5906 (G1)

Quality Score

170

Status

Validated

Chromosome

Chromosomal Location

140218267-140231145 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 140228799 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 874 (D874E)

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: D874E

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

SMART Domains

Protein: ENSMUSP00000081497
Gene: ENSMUSG00000025461
AA Change: D874E

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: D874E

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000209637
AA Change: D874E

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.4%
20x: 92.4%

Validation Efficiency

95% (81/85)

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930438A08Rik	C	A	11: 58,291,434		probably null	Het
9130023H24Rik	G	A	7: 128,236,492	P310S	probably benign	Het
Abcc10	G	T	17: 46,316,559	H652Q	probably benign	Het
Actl6b	A	G	5: 137,567,329	I396V	possibly damaging	Het
Acvr1b	T	C	15: 101,193,891		probably benign	Het
Adamts18	A	T	8: 113,709,619	H989Q	probably benign	Het
Adamtsl4	T	C	3: 95,680,784	Y631C	probably damaging	Het
Angptl3	A	G	4: 99,037,567	T377A	probably benign	Het
Ankmy2	G	A	12: 36,176,633	V109M	probably damaging	Het
Anpep	G	A	7: 79,833,675	A689V	probably benign	Het
Brwd1	A	T	16: 96,058,738	M350K	probably damaging	Het
Cacna1d	C	T	14: 30,096,960	V1213I	probably damaging	Het
Capn1	A	G	19: 6,011,421	F156L	possibly damaging	Het
Catsperb	C	A	12: 101,510,462	F408L	probably damaging	Het
Ccdc146	A	T	5: 21,301,352	L697Q	possibly damaging	Het
Cdc37l1	T	A	19: 29,011,986	V281E	probably benign	Het
Chia1	A	T	3: 106,131,988	T465S	probably benign	Het
Cidec	A	T	6: 113,428,321		probably null	Het
Clcnkb	T	C	4: 141,412,299	T131A	probably benign	Het
Clec5a	T	A	6: 40,581,859	M98L	probably benign	Het
Cnga1	A	T	5: 72,610,858	F162I	probably benign	Het
Cyp27b1	A	T	10: 127,048,398	I40F	probably damaging	Het
Edrf1	A	G	7: 133,663,415	S1027G	probably benign	Het
Entpd1	C	A	19: 40,738,839	A448E	probably damaging	Het
Espl1	T	C	15: 102,296,851		probably null	Het
Etfdh	T	C	3: 79,604,115	I520V	probably damaging	Het
Fchsd1	C	T	18: 37,959,873		probably benign	Het
Gabra4	G	A	5: 71,623,910	P386L	probably benign	Het
Gckr	G	T	5: 31,306,578	V281L	probably damaging	Het
Gfy	T	C	7: 45,177,743	T310A	probably benign	Het
Gjc2	C	A	11: 59,176,841	V272L	probably benign	Het
Gm13441	G	C	2: 31,887,499		silent	Het
H2-DMb2	T	A	17: 34,148,608	M1K	probably null	Het
Hipk3	T	C	2: 104,471,808	Y13C	probably damaging	Het
Kcnt1	A	T	2: 25,894,524		probably benign	Het
Kcnt1	T	C	2: 25,898,401	F336S	probably damaging	Het
Klhdc7b	A	G	15: 89,387,156	D747G	probably benign	Het
Krt78	T	A	15: 101,948,595	E359V	probably damaging	Het
Mast4	T	C	13: 102,735,744	D2195G	probably benign	Het
Matk	C	T	10: 81,260,919	L188F	probably damaging	Het
Mcoln2	T	C	3: 146,183,741	I399T	probably damaging	Het
Mroh2a	A	G	1: 88,258,664	S64G	probably benign	Het
Nap1l1	A	T	10: 111,491,030	K151*	probably null	Het
Ncbp3	T	A	11: 73,073,501	S426T	probably benign	Het
Nisch	T	A	14: 31,172,028		probably null	Het
Olfr145	A	G	9: 37,897,878	H158R	probably damaging	Het
Olfr1467	T	C	19: 13,365,005	C126R	probably damaging	Het
Olfr160	A	G	9: 37,711,805	I158T	probably benign	Het
Olfr725	T	C	14: 50,034,849	T185A	probably benign	Het
Peg3	T	C	7: 6,717,855	D17G	probably damaging	Het
Pkd1	G	A	17: 24,572,920	V1194M	probably benign	Het
Pkd1l2	A	T	8: 117,029,648	I1615N	probably damaging	Het
Pkd2	A	T	5: 104,477,179		probably null	Het
Pkp4	T	A	2: 59,305,076	N97K	possibly damaging	Het
Prrx2	C	T	2: 30,879,510	R78C	probably damaging	Het
Pycr1	T	A	11: 120,642,162	I91F	probably damaging	Het
Rap1a	T	C	3: 105,737,765	N87S	possibly damaging	Het
Sbk2	T	G	7: 4,957,628	Y181S	probably damaging	Het
Sec16a	A	T	2: 26,438,831	H1057Q	possibly damaging	Het
Sfswap	G	A	5: 129,542,043	E486K	probably benign	Het
Shank3	T	C	15: 89,548,916	V1213A	probably damaging	Het
Slfn5	T	A	11: 82,957,276	I329K	probably benign	Het
Slit1	T	A	19: 41,606,374	N1186Y	probably damaging	Het
Ssbp3	A	G	4: 107,009,821		probably benign	Het
Steap3	T	A	1: 120,244,001	I125F	probably damaging	Het
Synpr	C	A	14: 13,608,788		probably benign	Het
Tom1	T	C	8: 75,050,258	L69P	probably damaging	Het
Traf3ip3	T	A	1: 193,198,006	D5V	possibly damaging	Het
Vmn1r29	G	A	6: 58,307,751	S152N	probably benign	Het
Vmn1r68	T	C	7: 10,527,623	I183V	probably benign	Het
Wdr17	C	G	8: 54,639,468	V1094L	probably benign	Het
Wdr95	A	G	5: 149,564,227	I109V	possibly damaging	Het
Zfp39	T	C	11: 58,902,891	D7G	probably benign	Het
Zfp512	A	T	5: 31,480,064	Q443L	probably damaging	Het
Zfp974	T	A	7: 27,910,805	K498N	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
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

Predicted Primers

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

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

Posted On

2017-02-28