Mutagenetix > Incidental Mutation

Incidental Mutation 'R8900:Cd5l'

679888

Institutional Source

Beutler Lab

Gene Symbol

Cd5l

Ensembl Gene

ENSMUSG00000015854

Gene Name

CD5 antigen-like

Synonyms

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

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8900 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

87357881-87371073 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 87367575 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 140 (D140E)

Ref Sequence

ENSEMBL: ENSMUSP00000015998 (fasta)

Gene Model

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

AlphaFold

Q9QWK4

Predicted Effect

probably benign
Transcript: ENSMUST00000015998
AA Change: D140E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000015998
Gene: ENSMUSG00000015854
AA Change: D140E

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

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

100% (63/63)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5430419D17Rik	A	T	7: 131,302,468		probably benign	Het
Abca9	T	C	11: 110,154,392	T372A	probably benign	Het
Adamts8	C	A	9: 30,954,634	R493S	probably benign	Het
Ankrd33b	G	A	15: 31,297,684	T309I	probably damaging	Het
Arhgap22	G	A	14: 33,271,923	W58*	probably null	Het
B4galt4	C	T	16: 38,752,042		probably benign	Het
Bcl2a1a	A	T	9: 88,957,258	I70L	probably benign	Het
Bst1	A	G	5: 43,820,600	D97G	possibly damaging	Het
Cand2	C	T	6: 115,780,933	T52M	probably benign	Het
Cd101	C	A	3: 101,018,746	R219L	probably benign	Het
Cd163l1	G	A	7: 140,228,565	W796*	probably null	Het
Cebpa	A	G	7: 35,120,481	M355V	possibly damaging	Het
Cfap74	G	A	4: 155,436,730	E620K		Het
Clec4a4	A	G	6: 123,023,916	E196G	probably damaging	Het
Cpxm1	T	A	2: 130,393,440	D544V	probably damaging	Het
Cwf19l2	T	A	9: 3,447,245	D535E	probably benign	Het
Daw1	T	G	1: 83,198,177	L212R	probably benign	Het
Dnm3	T	A	1: 162,307,876	T443S	probably benign	Het
Dock9	T	C	14: 121,580,528	D1627G	probably damaging	Het
Dohh	A	G	10: 81,387,901	I263V	probably benign	Het
Dsp	G	A	13: 38,181,179	V513M	probably damaging	Het
Dus4l	G	T	12: 31,640,693	L320I	possibly damaging	Het
Edc4	A	C	8: 105,891,225	Q1139P	probably damaging	Het
Fam220a	T	A	5: 143,563,473	C213*	probably null	Het
Fgf14	A	T	14: 123,983,914	Y159*	probably null	Het
Gm45861	A	T	8: 27,529,604	D749V	unknown	Het
Hip1	T	C	5: 135,430,290	T203A	probably benign	Het
Igfals	A	G	17: 24,880,040	D35G	possibly damaging	Het
Itga4	T	A	2: 79,314,988	I716K	probably damaging	Het
Ncaph2	T	A	15: 89,369,391	I282N	probably benign	Het
Ndufb3	T	C	1: 58,595,665	Y59H	probably damaging	Het
Nxpe3	T	C	16: 55,844,660	H399R	probably damaging	Het
Nxph1	T	C	6: 9,247,601	S191P	probably damaging	Het
Olfr29-ps1	G	T	4: 43,781,432	S299R	probably benign	Het
Olfr59	T	C	11: 74,289,587	S314P	probably damaging	Het
Pcdha11	T	G	18: 37,012,746	I630S	probably damaging	Het
Pfkl	C	G	10: 78,000,781	G134A	probably damaging	Het
Phf19	A	T	2: 34,905,472	C196S	probably damaging	Het
Piezo2	T	C	18: 63,115,025	K468R	probably benign	Het
Plekhn1	T	C	4: 156,225,621	S79G	possibly damaging	Het
Pomk	A	G	8: 25,983,356	Y190H	possibly damaging	Het
Ppp1r13b	T	A	12: 111,872,344	E33D	probably damaging	Het
Raly	A	T	2: 154,863,573	I174F	probably damaging	Het
Rint1	T	C	5: 23,811,884	V549A	possibly damaging	Het
Rnf31	T	G	14: 55,596,232	C566G	probably damaging	Het
Sdc1	C	T	12: 8,790,460	T79I	possibly damaging	Het
Sema6a	T	G	18: 47,291,115	E242A	probably damaging	Het
Slc22a30	A	C	19: 8,337,976	M430R	probably damaging	Het
Sp9	C	A	2: 73,273,519	T139K	probably benign	Het
Tbkbp1	T	C	11: 97,149,501	D29G	probably benign	Het
Tcf4	T	C	18: 69,564,690		probably benign	Het
Tenm3	A	T	8: 48,236,402	I2050N	probably damaging	Het
Tiparp	T	A	3: 65,553,182	F531I	probably damaging	Het
Tmem132b	A	T	5: 125,778,820	I539F	probably damaging	Het
Ttf2	T	C	3: 100,952,640	D666G	probably damaging	Het
Vmn1r51	T	C	6: 90,129,860	S253P	probably damaging	Het
Vmn2r104	A	G	17: 20,041,662	I402T	probably damaging	Het
Vmn2r16	T	C	5: 109,363,753	Y609H	probably benign	Het
Vmn2r17	A	T	5: 109,427,997	M245L	probably benign	Het
Vmn2r42	C	T	7: 8,194,793	E276K	probably benign	Het
Wdr75	C	A	1: 45,799,127	N65K	probably damaging	Het
Zfhx4	T	C	3: 5,398,864	S1361P	probably damaging	Het
Zfp317	T	A	9: 19,647,412	C396*	probably null	Het
Zfp651	A	C	9: 121,767,639	K687T	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
IGL02639:Cd5l	APN	3	87368506	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- GGCCTAACCACCGTGTACTATG -3'
(R):5'- GTTTGCTTCTTGTCCAGAACACG -3'

Sequencing Primer
(F):5'- AACCACCGTGTACTATGTGGTAC -3'
(R):5'- TTGTCCAGAACACGACATCTTG -3'

Posted On

2021-08-31