Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02450:Cd101'

294108

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cd101

Ensembl Gene

ENSMUSG00000086564

Gene Name

CD101 antigen

Synonyms

LOC381460, Igsf2

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02450

Quality Score

Status

Chromosome

Chromosomal Location

100900845-100936872 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 100901054 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 1006 (E1006G)

Ref Sequence

ENSEMBL: ENSMUSP00000126027 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000147399] [ENSMUST00000167086]

AlphaFold

A8E0Y8

Predicted Effect

probably damaging
Transcript: ENSMUST00000147399
AA Change: E1010G

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

SMART Domains

Protein: ENSMUSP00000116643
Gene: ENSMUSG00000086564
AA Change: E1010G

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
IG	28	143	4.96e-8	SMART
IG	153	266	4.74e-5	SMART
IG_like	274	379	2.19e-1	SMART
IG	289	395	3.25e-3	SMART
IG	417	533	4.85e-11	SMART
IG	545	659	1.52e-3	SMART
IG	680	805	3.16e-1	SMART
IG_like	827	927	2.95e-1	SMART
IG	856	955	1.04e-1	SMART
transmembrane domain	971	993	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000167086
AA Change: E1006G

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

SMART Domains

Protein: ENSMUSP00000126027
Gene: ENSMUSG00000086564
AA Change: E1006G

Domain	Start	End	E-Value	Type
IG	24	139	4.96e-8	SMART
IG	149	262	4.74e-5	SMART
IG_like	270	375	2.19e-1	SMART
IG	285	391	3.25e-3	SMART
IG	413	529	4.85e-11	SMART
IG	541	655	1.52e-3	SMART
IG	676	801	3.16e-1	SMART
IG_like	823	923	2.95e-1	SMART
IG	852	951	1.04e-1	SMART
transmembrane domain	967	989	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced Gr-1+ cells. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aco2	A	G	15: 81,798,963 (GRCm39)	*781W	probably null	Het
Adamts16	C	A	13: 70,984,419 (GRCm39)	R81S	probably damaging	Het
Aldh1l1	A	G	6: 90,546,855 (GRCm39)	D386G	probably benign	Het
Anxa6	G	A	11: 54,885,767 (GRCm39)	R393W	probably damaging	Het
Bdnf	G	A	2: 109,553,949 (GRCm39)	V108I	possibly damaging	Het
Bpgm	C	T	6: 34,464,399 (GRCm39)	R39W	probably damaging	Het
Cd109	A	T	9: 78,603,132 (GRCm39)	E972V	possibly damaging	Het
Cdhr3	T	A	12: 33,132,224 (GRCm39)	Q133L	probably benign	Het
Cdk5r1	C	T	11: 80,368,666 (GRCm39)	A111V	probably benign	Het
Cnga4	A	T	7: 105,054,955 (GRCm39)	I77F	probably damaging	Het
Egfem1	G	A	3: 29,711,417 (GRCm39)		probably null	Het
Fbxl21	T	A	13: 56,674,766 (GRCm39)	V39D	possibly damaging	Het
Gimap6	T	C	6: 48,681,351 (GRCm39)	I94M	probably benign	Het
Glis1	T	C	4: 107,484,726 (GRCm39)	V407A	probably benign	Het
Gm5784	C	T	12: 19,437,970 (GRCm39)		noncoding transcript	Het
Gm9839	A	T	1: 32,559,964 (GRCm39)		probably benign	Het
Heatr5a	T	A	12: 51,992,213 (GRCm39)	M566L	probably benign	Het
Jph1	G	A	1: 17,074,201 (GRCm39)	P606S	possibly damaging	Het
Jup	C	T	11: 100,269,183 (GRCm39)	C410Y	probably damaging	Het
Kif23	A	G	9: 61,831,239 (GRCm39)	M777T	probably benign	Het
Lifr	G	T	15: 7,220,246 (GRCm39)	D959Y	probably damaging	Het
Lsm1	C	A	8: 26,283,806 (GRCm39)	L73I	possibly damaging	Het
Maneal	G	A	4: 124,750,928 (GRCm39)	A276V	probably benign	Het
Myh4	A	G	11: 67,142,635 (GRCm39)	D932G	probably damaging	Het
Nipbl	C	T	15: 8,373,058 (GRCm39)	V1063M	probably damaging	Het
Nlrx1	A	G	9: 44,164,798 (GRCm39)	V882A	probably benign	Het
Obox6	A	G	7: 15,567,638 (GRCm39)	C270R	probably damaging	Het
Or13a19	A	G	7: 139,903,140 (GRCm39)	H176R	possibly damaging	Het
Pard3b	A	G	1: 62,571,835 (GRCm39)	I925V	possibly damaging	Het
Pdhx	A	G	2: 102,872,594 (GRCm39)	S163P	probably benign	Het
Pdzrn3	T	C	6: 101,331,461 (GRCm39)	D271G	probably damaging	Het
Plec	A	G	15: 76,075,515 (GRCm39)	I399T	probably damaging	Het
Pthlh	T	G	6: 147,158,666 (GRCm39)	D98A	possibly damaging	Het
Spata31f3	A	G	4: 42,874,127 (GRCm39)	S14P	probably benign	Het
Spock3	T	A	8: 63,698,249 (GRCm39)		probably null	Het
Tgtp2	C	T	11: 48,950,317 (GRCm39)	G85D	probably benign	Het
Tmem94	A	G	11: 115,683,897 (GRCm39)	D739G	probably damaging	Het
Washc5	G	A	15: 59,204,166 (GRCm39)	R706*	probably null	Het
Zfp13	C	T	17: 23,795,072 (GRCm39)	A493T	probably benign	Het
Zscan20	G	T	4: 128,480,450 (GRCm39)	D680E	probably damaging	Het

Other mutations in Cd101

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00958:Cd101	APN	3	100,911,018 (GRCm39)	missense	probably damaging	1.00
IGL01443:Cd101	APN	3	100,910,887 (GRCm39)	missense	probably benign
IGL02000:Cd101	APN	3	100,919,398 (GRCm39)	missense	probably benign	0.11
IGL02178:Cd101	APN	3	100,901,082 (GRCm39)	missense	probably damaging	1.00
IGL02224:Cd101	APN	3	100,924,318 (GRCm39)	missense	probably benign
IGL02502:Cd101	APN	3	100,919,141 (GRCm39)	missense	probably damaging	0.99
IGL02536:Cd101	APN	3	100,910,913 (GRCm39)	missense	probably damaging	1.00
IGL02749:Cd101	APN	3	100,927,715 (GRCm39)	missense	probably damaging	1.00
IGL02818:Cd101	APN	3	100,919,245 (GRCm39)	missense	probably damaging	1.00
IGL02829:Cd101	APN	3	100,925,881 (GRCm39)	splice site	probably benign
IGL02902:Cd101	APN	3	100,926,310 (GRCm39)	splice site	probably benign
tax_day	UTSW	3	100,911,021 (GRCm39)	missense	possibly damaging	0.86
R0069:Cd101	UTSW	3	100,915,533 (GRCm39)	missense	probably benign	0.08
R0069:Cd101	UTSW	3	100,915,533 (GRCm39)	missense	probably benign	0.08
R0411:Cd101	UTSW	3	100,925,843 (GRCm39)	splice site	probably null
R0486:Cd101	UTSW	3	100,915,408 (GRCm39)	missense	possibly damaging	0.94
R0556:Cd101	UTSW	3	100,927,970 (GRCm39)	missense	probably damaging	1.00
R0726:Cd101	UTSW	3	100,927,938 (GRCm39)	missense	possibly damaging	0.95
R0966:Cd101	UTSW	3	100,915,538 (GRCm39)	missense	probably benign	0.13
R1344:Cd101	UTSW	3	100,926,091 (GRCm39)	nonsense	probably null
R1418:Cd101	UTSW	3	100,926,091 (GRCm39)	nonsense	probably null
R1547:Cd101	UTSW	3	100,926,267 (GRCm39)	missense	possibly damaging	0.94
R1551:Cd101	UTSW	3	100,919,329 (GRCm39)	missense	probably damaging	0.99
R1845:Cd101	UTSW	3	100,936,764 (GRCm39)	splice site	probably null
R1919:Cd101	UTSW	3	100,926,233 (GRCm39)	missense	probably damaging	1.00
R1976:Cd101	UTSW	3	100,915,377 (GRCm39)	missense	probably damaging	0.96
R2260:Cd101	UTSW	3	100,924,261 (GRCm39)	missense	possibly damaging	0.82
R2679:Cd101	UTSW	3	100,901,079 (GRCm39)	missense	probably benign	0.00
R2873:Cd101	UTSW	3	100,911,164 (GRCm39)	missense	probably benign	0.00
R3606:Cd101	UTSW	3	100,927,913 (GRCm39)	missense	probably damaging	1.00
R4201:Cd101	UTSW	3	100,926,001 (GRCm39)	missense	probably damaging	1.00
R4202:Cd101	UTSW	3	100,926,001 (GRCm39)	missense	probably damaging	1.00
R4205:Cd101	UTSW	3	100,926,001 (GRCm39)	missense	probably damaging	1.00
R4349:Cd101	UTSW	3	100,920,630 (GRCm39)	missense	possibly damaging	0.93
R4574:Cd101	UTSW	3	100,920,469 (GRCm39)	missense	probably benign	0.02
R4601:Cd101	UTSW	3	100,901,204 (GRCm39)	missense	possibly damaging	0.84
R4820:Cd101	UTSW	3	100,929,471 (GRCm39)	missense	probably benign	0.01
R4910:Cd101	UTSW	3	100,901,205 (GRCm39)	missense	probably benign	0.13
R5014:Cd101	UTSW	3	100,911,139 (GRCm39)	missense	probably damaging	0.99
R5081:Cd101	UTSW	3	100,911,021 (GRCm39)	missense	possibly damaging	0.86
R5396:Cd101	UTSW	3	100,926,126 (GRCm39)	missense	probably damaging	1.00
R5425:Cd101	UTSW	3	100,926,002 (GRCm39)	missense	probably damaging	1.00
R6193:Cd101	UTSW	3	100,927,778 (GRCm39)	missense	probably damaging	1.00
R6210:Cd101	UTSW	3	100,925,959 (GRCm39)	missense	probably damaging	1.00
R6732:Cd101	UTSW	3	100,915,515 (GRCm39)	missense	probably benign	0.01
R6830:Cd101	UTSW	3	100,901,012 (GRCm39)	missense	probably benign	0.12
R6897:Cd101	UTSW	3	100,920,376 (GRCm39)	missense	probably damaging	1.00
R6940:Cd101	UTSW	3	100,911,018 (GRCm39)	missense	probably damaging	1.00
R7335:Cd101	UTSW	3	100,926,045 (GRCm39)	missense	probably benign	0.01
R7565:Cd101	UTSW	3	100,926,108 (GRCm39)	missense	probably benign	0.00
R7880:Cd101	UTSW	3	100,915,182 (GRCm39)	missense	probably benign	0.00
R8121:Cd101	UTSW	3	100,927,898 (GRCm39)	missense	probably damaging	1.00
R8233:Cd101	UTSW	3	100,900,989 (GRCm39)	missense	unknown
R8900:Cd101	UTSW	3	100,926,062 (GRCm39)	missense	probably benign	0.19
R8960:Cd101	UTSW	3	100,910,817 (GRCm39)	missense	probably benign	0.01
R9260:Cd101	UTSW	3	100,920,599 (GRCm39)	missense	probably benign	0.16
R9335:Cd101	UTSW	3	100,915,431 (GRCm39)	missense	probably benign	0.18
R9663:Cd101	UTSW	3	100,911,222 (GRCm39)	missense	probably benign	0.21
X0018:Cd101	UTSW	3	100,925,948 (GRCm39)	missense	possibly damaging	0.95
X0023:Cd101	UTSW	3	100,926,171 (GRCm39)	missense	probably benign
X0058:Cd101	UTSW	3	100,927,737 (GRCm39)	missense	probably damaging	1.00
Z1177:Cd101	UTSW	3	100,924,456 (GRCm39)	missense	probably benign	0.02
Z1177:Cd101	UTSW	3	100,919,232 (GRCm39)	missense	probably benign	0.03

Posted On

2015-04-16