Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02639:Cd5l'

301652

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cd5l

Ensembl Gene

ENSMUSG00000015854

Gene Name

CD5 antigen-like

Synonyms

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02639

Quality Score

Status

Chromosome

Chromosomal Location

87357881-87371073 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 87368506 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 261 (V261A)

Ref Sequence

ENSEMBL: ENSMUSP00000015998 (fasta)

Gene Model

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

AlphaFold

Q9QWK4

Predicted Effect

probably damaging
Transcript: ENSMUST00000015998
AA Change: V261A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000015998
Gene: ENSMUSG00000015854
AA Change: V261A

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447A16Rik	C	T	15: 37,429,804	R71*	probably null	Het
Abca5	A	T	11: 110,288,073	I1140N	possibly damaging	Het
Atp6v0a1	T	A	11: 101,055,518	I773N	possibly damaging	Het
Atp9a	A	G	2: 168,649,620	M675T	probably damaging	Het
Baz1a	A	G	12: 54,896,025		probably benign	Het
Copb1	A	G	7: 114,226,595		probably benign	Het
Cul5	T	C	9: 53,655,342	D130G	possibly damaging	Het
Cyp2j5	T	A	4: 96,658,749	Q176L	probably benign	Het
D430042O09Rik	A	G	7: 125,872,792	I1518V	probably damaging	Het
Ddo	A	G	10: 40,647,737	D241G	probably damaging	Het
Defa29	A	G	8: 21,326,121	C77R	possibly damaging	Het
Dpp4	T	C	2: 62,352,240	N566D	probably benign	Het
Emilin2	T	C	17: 71,274,549	D394G	probably benign	Het
Fbf1	T	C	11: 116,152,600	E461G	probably benign	Het
Fgfr2	A	G	7: 130,228,802		probably benign	Het
Fibcd1	G	A	2: 31,817,150	T365M	probably damaging	Het
Fndc3a	A	C	14: 72,574,357	H344Q	probably benign	Het
Fnip1	T	A	11: 54,475,640	C52*	probably null	Het
Fto	T	A	8: 91,409,528	N143K	probably damaging	Het
Gm2035	G	T	12: 87,919,499	T120K	probably benign	Het
Hells	G	T	19: 38,938,429	L84F	probably damaging	Het
Hydin	G	A	8: 110,538,449	V2755I	probably benign	Het
Irgq	C	A	7: 24,531,462	A26E	probably damaging	Het
Klhl29	A	T	12: 5,137,453	Y304N	probably damaging	Het
Muc6	T	C	7: 141,649,578		probably benign	Het
Myo15	T	C	11: 60,478,621	F736L	probably benign	Het
Nynrin	G	T	14: 55,870,655	W1073L	probably damaging	Het
Olfr116	A	T	17: 37,623,987	I216N	probably benign	Het
Olfr1490	A	T	19: 13,654,596	T51S	possibly damaging	Het
Olfr310	A	T	7: 86,269,720	I23N	probably damaging	Het
Olfr389	A	T	11: 73,776,545	C261S	probably benign	Het
Olfr63	G	A	17: 33,269,395	V224M	possibly damaging	Het
Olfr642	C	A	7: 104,049,781	C191F	probably damaging	Het
Olfr675	T	A	7: 105,024,222	I253F	probably damaging	Het
Pdzd2	T	A	15: 12,592,243	K105M	probably damaging	Het
Pip5k1c	C	A	10: 81,317,321		probably null	Het
Pola2	A	G	19: 5,953,774	V191A	probably benign	Het
Slc22a8	A	T	19: 8,593,959	Y18F	probably benign	Het
Slc26a5	C	T	5: 21,819,767	V440M	probably damaging	Het

Other mutations in Cd5l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01992:Cd5l	APN	3	87367811	missense	probably benign	0.01
IGL02301:Cd5l	APN	3	87365993	missense	probably benign	0.02
R1104:Cd5l	UTSW	3	87360899	missense	probably benign	0.06
R1763:Cd5l	UTSW	3	87367880	critical splice donor site	probably null
R1775:Cd5l	UTSW	3	87368659	missense	probably damaging	1.00
R4614:Cd5l	UTSW	3	87368619	missense	probably benign
R4618:Cd5l	UTSW	3	87368619	missense	probably benign
R4838:Cd5l	UTSW	3	87365951	missense	probably benign	0.41
R4871:Cd5l	UTSW	3	87367622	missense	probably damaging	1.00
R4980:Cd5l	UTSW	3	87367601	missense	probably benign	0.33
R5611:Cd5l	UTSW	3	87367775	missense	possibly damaging	0.64
R5632:Cd5l	UTSW	3	87366107	nonsense	probably null
R6261:Cd5l	UTSW	3	87368608	missense	probably benign	0.35
R7017:Cd5l	UTSW	3	87366061	nonsense	probably null
R7727:Cd5l	UTSW	3	87367855	nonsense	probably null
R8034:Cd5l	UTSW	3	87365964	missense	possibly damaging	0.79
R8900:Cd5l	UTSW	3	87367575	missense	probably benign
R9008:Cd5l	UTSW	3	87368665	missense	probably damaging	1.00
R9163:Cd5l	UTSW	3	87367625	missense	probably benign	0.19
R9546:Cd5l	UTSW	3	87360894	missense	probably benign	0.00
R9747:Cd5l	UTSW	3	87367797	missense	probably benign	0.00
X0025:Cd5l	UTSW	3	87368761	missense	probably damaging	0.96

Posted On

2015-04-16