Mutagenetix > Incidental Mutation

Incidental Mutation 'R5724:Cxcl16'

452394

Institutional Source

Beutler Lab

Gene Symbol

Cxcl16

Ensembl Gene

ENSMUSG00000018920

Gene Name

C-X-C motif chemokine ligand 16

Synonyms

SR-PSOX/CXCL16, Scavenger Receptor, 0910001K24Rik, SR-PSOX

MMRRC Submission

043342-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

R5724 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

70345215-70350810 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 70349990 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 12 (D12G)

Ref Sequence

ENSEMBL: ENSMUSP00000133513 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019064] [ENSMUST00000039093] [ENSMUST00000092958] [ENSMUST00000108563] [ENSMUST00000126105] [ENSMUST00000126391] [ENSMUST00000147289]

AlphaFold

Q8BSU2

Predicted Effect

unknown
Transcript: ENSMUST00000019064
AA Change: D25G

SMART Domains

Protein: ENSMUSP00000019064
Gene: ENSMUSG00000018920
AA Change: D25G

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
Blast:SCY	32	94	1e-17	BLAST
transmembrane domain	201	223	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000039093

SMART Domains

Protein: ENSMUSP00000048816
Gene: ENSMUSG00000040829

Domain	Start	End	E-Value	Type
low complexity region	71	85	N/A	INTRINSIC
low complexity region	110	126	N/A	INTRINSIC
low complexity region	164	186	N/A	INTRINSIC
Pfam:zf-MYND	307	353	6.7e-12	PFAM
low complexity region	438	452	N/A	INTRINSIC
low complexity region	523	535	N/A	INTRINSIC
low complexity region	702	736	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000092958

SMART Domains

Protein: ENSMUSP00000090635
Gene: ENSMUSG00000040829

Domain	Start	End	E-Value	Type
low complexity region	71	85	N/A	INTRINSIC
low complexity region	110	126	N/A	INTRINSIC
low complexity region	164	186	N/A	INTRINSIC
Pfam:zf-MYND	306	352	6.5e-11	PFAM
low complexity region	437	451	N/A	INTRINSIC
low complexity region	483	495	N/A	INTRINSIC
low complexity region	662	696	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108563

SMART Domains

Protein: ENSMUSP00000104203
Gene: ENSMUSG00000040829

Domain	Start	End	E-Value	Type
low complexity region	35	57	N/A	INTRINSIC
Pfam:zf-MYND	177	223	2.5e-11	PFAM
low complexity region	308	322	N/A	INTRINSIC
low complexity region	393	405	N/A	INTRINSIC
low complexity region	572	606	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000126105

SMART Domains

Protein: ENSMUSP00000134599
Gene: ENSMUSG00000040829

Domain	Start	End	E-Value	Type
low complexity region	71	85	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000126391
AA Change: D12G

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000133513
Gene: ENSMUSG00000018920
AA Change: D12G

Domain	Start	End	E-Value	Type
Blast:SCY	19	81	3e-18	BLAST
transmembrane domain	188	210	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136029

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154475

Predicted Effect

probably benign
Transcript: ENSMUST00000147289

SMART Domains

Protein: ENSMUSP00000136813
Gene: ENSMUSG00000040829

Domain	Start	End	E-Value	Type
low complexity region	40	54	N/A	INTRINSIC

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.5%
20x: 93.1%

Validation Efficiency

100% (62/62)

MGI Phenotype

PHENOTYPE: Mice homozygous for a null allele exhibit decreased NK T cells, decreased secretion and serum levels of IL4 and IFN-gamma, and decreased inhibition of B16 melanoma cell growth by alpha-galactosylceramide treatment. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3830408C21Rik	A	T	13: 107,168,905 (GRCm39)		noncoding transcript	Het
Adam5	T	A	8: 25,294,511 (GRCm39)	K363*	probably null	Het
Adamts12	T	C	15: 11,286,836 (GRCm39)	Y814H	probably benign	Het
Adar	G	T	3: 89,642,476 (GRCm39)	G119V	probably benign	Het
Adprs	G	T	4: 126,211,869 (GRCm39)	Q148K	probably damaging	Het
Atr	G	T	9: 95,748,641 (GRCm39)	L395F	probably damaging	Het
Bahcc1	A	G	11: 120,176,192 (GRCm39)	I1946V	possibly damaging	Het
Bend4	T	A	5: 67,575,284 (GRCm39)	D199V	probably damaging	Het
Bpifb1	C	A	2: 154,046,712 (GRCm39)	H77Q	probably benign	Het
Clca3a1	T	C	3: 144,714,833 (GRCm39)	T595A	probably benign	Het
Crebbp	A	T	16: 3,905,499 (GRCm39)		probably benign	Het
Dnah10	T	C	5: 124,819,090 (GRCm39)	W459R	probably benign	Het
Dock8	T	C	19: 25,099,785 (GRCm39)	L636P	probably damaging	Het
Eif2ak3	A	G	6: 70,853,824 (GRCm39)	T197A	probably benign	Het
Fbxo40	T	A	16: 36,790,692 (GRCm39)	R139S	probably benign	Het
Fer	C	A	17: 64,231,152 (GRCm39)	T301K	probably damaging	Het
Fgf21	A	T	7: 45,264,729 (GRCm39)	M1K	probably null	Het
Gm11677	C	T	11: 111,615,537 (GRCm39)		noncoding transcript	Het
Gm38706	A	T	6: 130,459,963 (GRCm39)		noncoding transcript	Het
H2-Q6	A	C	17: 35,644,628 (GRCm39)	Y139S	probably damaging	Het
Ift70a2	T	C	2: 75,808,074 (GRCm39)	D146G	probably benign	Het
Igkv4-53	A	T	6: 69,625,991 (GRCm39)	Y59N	probably damaging	Het
Jrkl	T	C	9: 13,244,891 (GRCm39)	M257V	possibly damaging	Het
Kat8	G	A	7: 127,523,988 (GRCm39)	E343K	probably damaging	Het
Klhl26	T	A	8: 70,904,404 (GRCm39)	Y468F	probably damaging	Het
Lamb2	T	A	9: 108,357,950 (GRCm39)		probably null	Het
Lcp1	A	G	14: 75,464,422 (GRCm39)	T548A	probably benign	Het
Lct	T	A	1: 128,228,073 (GRCm39)	Q1140L	probably benign	Het
Lrp2	T	G	2: 69,281,726 (GRCm39)	N3882H	probably damaging	Het
Magi1	A	G	6: 93,657,852 (GRCm39)	I1126T	probably benign	Het
Magi1	A	G	6: 93,722,682 (GRCm39)	S399P	probably damaging	Het
Med16	A	G	10: 79,731,243 (GRCm39)	C825R	probably damaging	Het
Mtx3	C	T	13: 92,984,095 (GRCm39)	P124L	probably damaging	Het
Nabp2	C	T	10: 128,245,555 (GRCm39)		probably benign	Het
Or5b113	T	A	19: 13,342,515 (GRCm39)	H174Q	possibly damaging	Het
Pak4	A	T	7: 28,264,005 (GRCm39)	S244T	possibly damaging	Het
Pccb	C	T	9: 100,869,900 (GRCm39)	V307I	probably benign	Het
Plekhh2	A	G	17: 84,874,233 (GRCm39)	D506G	probably benign	Het
Plk4	T	C	3: 40,755,481 (GRCm39)	V26A	probably damaging	Het
Ppp2r3c	A	T	12: 55,344,617 (GRCm39)	M117K	probably benign	Het
Pramel21	A	G	4: 143,344,026 (GRCm39)	D442G	probably benign	Het
Pspc1	C	T	14: 57,015,529 (GRCm39)	E30K	probably benign	Het
Reps1	A	G	10: 17,990,231 (GRCm39)	S448G	possibly damaging	Het
Rnf34	C	T	5: 123,004,952 (GRCm39)	Q241*	probably null	Het
Sgta	A	T	10: 80,883,522 (GRCm39)		probably null	Het
Sh3bp5	C	A	14: 31,099,452 (GRCm39)	R265L	probably benign	Het
Siglech	A	G	7: 55,418,293 (GRCm39)	N87S	probably damaging	Het
Sptbn1	A	G	11: 30,094,113 (GRCm39)	I392T	possibly damaging	Het
St18	T	A	1: 6,841,174 (GRCm39)	M21K	probably benign	Het
Sugp1	C	T	8: 70,522,799 (GRCm39)	R500C	probably damaging	Het
Tasp1	T	C	2: 139,899,339 (GRCm39)	K5E	probably damaging	Het
Tbx3	G	A	5: 119,813,668 (GRCm39)	V235I	possibly damaging	Het
Toporsl	A	T	4: 52,611,346 (GRCm39)	N413I	probably damaging	Het
Ubqln3	G	A	7: 103,790,674 (GRCm39)	P472L	probably benign	Het
Zfp60	A	G	7: 27,447,758 (GRCm39)	Y142C	probably benign	Het

Other mutations in Cxcl16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02211:Cxcl16	APN	11	70,346,858 (GRCm39)	missense	possibly damaging	0.65
IGL02867:Cxcl16	APN	11	70,349,892 (GRCm39)	missense	possibly damaging	0.62
PIT4472001:Cxcl16	UTSW	11	70,349,625 (GRCm39)	missense	probably damaging	1.00
R0133:Cxcl16	UTSW	11	70,349,596 (GRCm39)	missense	possibly damaging	0.94
R0415:Cxcl16	UTSW	11	70,349,574 (GRCm39)	nonsense	probably null
R0732:Cxcl16	UTSW	11	70,346,234 (GRCm39)	missense	probably damaging	1.00
R0759:Cxcl16	UTSW	11	70,349,954 (GRCm39)	missense	probably damaging	0.97
R4359:Cxcl16	UTSW	11	70,349,631 (GRCm39)	missense	possibly damaging	0.81
R4609:Cxcl16	UTSW	11	70,346,255 (GRCm39)	missense	probably damaging	1.00
R4903:Cxcl16	UTSW	11	70,346,519 (GRCm39)	missense	probably benign	0.22
R4964:Cxcl16	UTSW	11	70,346,519 (GRCm39)	missense	probably benign	0.22
R7427:Cxcl16	UTSW	11	70,349,630 (GRCm39)	missense	possibly damaging	0.90
R8518:Cxcl16	UTSW	11	70,346,510 (GRCm39)	missense	probably benign	0.13
Z1088:Cxcl16	UTSW	11	70,346,804 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCAGATCGATGGTCCCACAC -3'
(R):5'- AGAATTGGCTGGATGTCGGC -3'

Sequencing Primer
(F):5'- ATGGTCCCACACCTGCC -3'
(R):5'- TGACCCTGCCAGGTTAGTC -3'

Posted On

2017-01-03