Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01992:Cd5l'

183581

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cd5l

Ensembl Gene

ENSMUSG00000015854

Gene Name

CD5 antigen-like

Synonyms

AIM, AIM/Spalpha, Sp-alpha, Pdp 1/6, Api6, AAC-11

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01992

Quality Score

Status

Chromosome

Chromosomal Location

87265188-87278380 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 87275118 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 219 (R219Q)

Ref Sequence

ENSEMBL: ENSMUSP00000015998 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000015998]

AlphaFold

Q9QWK4

Predicted Effect

probably benign
Transcript: ENSMUST00000015998
AA Change: R219Q

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000015998
Gene: ENSMUSG00000015854
AA Change: R219Q

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
SR	27	128	3.42e-41	SMART
SR	141	241	3.56e-39	SMART
SR	246	348	2.78e-50	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous null mice exhibit enhanced and prolonged bacterial-induced granuloma formation and increased apoptosis of NKT and T cells. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ano3	A	G	2: 110,488,564 (GRCm39)	M956T	probably damaging	Het
Ap2b1	T	G	11: 83,226,356 (GRCm39)	V289G	probably damaging	Het
Cacnb4	G	T	2: 52,355,682 (GRCm39)	H208Q	probably damaging	Het
Calhm6	A	T	10: 34,003,533 (GRCm39)	C125S	probably damaging	Het
Dzip1l	G	T	9: 99,545,739 (GRCm39)	G663W	probably damaging	Het
Ecel1	G	A	1: 87,077,577 (GRCm39)		probably benign	Het
Eno1	A	G	4: 150,323,993 (GRCm39)	T19A	probably damaging	Het
Fndc3a	G	A	14: 72,811,996 (GRCm39)	T315I	probably benign	Het
Galr1	T	C	18: 82,411,942 (GRCm39)	N308S	probably damaging	Het
Get3	G	A	8: 85,745,185 (GRCm39)	A294V	possibly damaging	Het
Maf	A	T	8: 116,432,702 (GRCm39)	S301T	probably damaging	Het
Map3k5	C	T	10: 19,904,879 (GRCm39)	R394*	probably null	Het
Mroh8	C	T	2: 157,055,616 (GRCm39)	G994D	probably damaging	Het
Myo10	T	C	15: 25,799,634 (GRCm39)	V653A	possibly damaging	Het
Nucks1	A	G	1: 131,858,828 (GRCm39)	K196E	unknown	Het
Nup42	T	C	5: 24,386,101 (GRCm39)	V211A	probably benign	Het
Or4n4	C	A	14: 50,518,798 (GRCm39)	R304L	probably benign	Het
Or7e178	A	T	9: 20,226,015 (GRCm39)	I59N	probably damaging	Het
Or7g32	A	T	9: 19,408,070 (GRCm39)	I9F	probably benign	Het
Piwil1	C	T	5: 128,824,396 (GRCm39)	T493I	probably null	Het
Plcd1	T	C	9: 118,905,053 (GRCm39)	H216R	probably benign	Het
Pmp2	A	T	3: 10,247,541 (GRCm39)	Y49*	probably null	Het
Rnf38	A	G	4: 44,138,806 (GRCm39)	V229A	probably damaging	Het
Saxo2	T	C	7: 82,284,108 (GRCm39)	D250G	probably damaging	Het
Scn8a	T	G	15: 100,866,938 (GRCm39)	V98G	probably damaging	Het
Scnn1a	T	A	6: 125,315,900 (GRCm39)		probably null	Het
Sepsecs	C	T	5: 52,801,402 (GRCm39)	R420Q	probably benign	Het
Slit2	T	C	5: 48,395,759 (GRCm39)	S725P	probably benign	Het
Stk16	A	G	1: 75,189,835 (GRCm39)	Q207R	probably benign	Het
Tapt1	C	T	5: 44,336,332 (GRCm39)	V446M	probably damaging	Het
Tent5c	A	T	3: 100,379,946 (GRCm39)	M270K	probably damaging	Het
Tex56	C	T	13: 35,108,516 (GRCm39)		probably null	Het
Tnni3k	A	C	3: 154,667,663 (GRCm39)	V250G	probably damaging	Het
Ttll8	C	T	15: 88,799,848 (GRCm39)	G531E	possibly damaging	Het
U2surp	T	A	9: 95,346,472 (GRCm39)	E862D	possibly damaging	Het
U2surp	A	G	9: 95,364,234 (GRCm39)	F561L	probably damaging	Het
Unc5d	A	G	8: 29,142,819 (GRCm39)	Y878H	probably damaging	Het
Ust	A	G	10: 8,173,842 (GRCm39)	M221T	probably benign	Het
Wasf3	T	C	5: 146,392,401 (GRCm39)	F157S	probably damaging	Het
Wdr64	G	A	1: 175,533,637 (GRCm39)	C91Y	probably damaging	Het
Zan	T	C	5: 137,422,368 (GRCm39)	Y2750C	unknown	Het

Other mutations in Cd5l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02301:Cd5l	APN	3	87,273,300 (GRCm39)	missense	probably benign	0.02
IGL02639:Cd5l	APN	3	87,275,813 (GRCm39)	missense	probably damaging	1.00
R1104:Cd5l	UTSW	3	87,268,206 (GRCm39)	missense	probably benign	0.06
R1763:Cd5l	UTSW	3	87,275,187 (GRCm39)	critical splice donor site	probably null
R1775:Cd5l	UTSW	3	87,275,966 (GRCm39)	missense	probably damaging	1.00
R4614:Cd5l	UTSW	3	87,275,926 (GRCm39)	missense	probably benign
R4618:Cd5l	UTSW	3	87,275,926 (GRCm39)	missense	probably benign
R4838:Cd5l	UTSW	3	87,273,258 (GRCm39)	missense	probably benign	0.41
R4871:Cd5l	UTSW	3	87,274,929 (GRCm39)	missense	probably damaging	1.00
R4980:Cd5l	UTSW	3	87,274,908 (GRCm39)	missense	probably benign	0.33
R5611:Cd5l	UTSW	3	87,275,082 (GRCm39)	missense	possibly damaging	0.64
R5632:Cd5l	UTSW	3	87,273,414 (GRCm39)	nonsense	probably null
R6261:Cd5l	UTSW	3	87,275,915 (GRCm39)	missense	probably benign	0.35
R7017:Cd5l	UTSW	3	87,273,368 (GRCm39)	nonsense	probably null
R7727:Cd5l	UTSW	3	87,275,162 (GRCm39)	nonsense	probably null
R8034:Cd5l	UTSW	3	87,273,271 (GRCm39)	missense	possibly damaging	0.79
R8900:Cd5l	UTSW	3	87,274,882 (GRCm39)	missense	probably benign
R9008:Cd5l	UTSW	3	87,275,972 (GRCm39)	missense	probably damaging	1.00
R9163:Cd5l	UTSW	3	87,274,932 (GRCm39)	missense	probably benign	0.19
R9546:Cd5l	UTSW	3	87,268,201 (GRCm39)	missense	probably benign	0.00
R9747:Cd5l	UTSW	3	87,275,104 (GRCm39)	missense	probably benign	0.00
X0025:Cd5l	UTSW	3	87,276,068 (GRCm39)	missense	probably damaging	0.96

Posted On

2014-05-07