Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02818:Cd101'

360868

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 #

IGL02818

Quality Score

Status

Chromosome

Chromosomal Location

100900845-100936872 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 100919245 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 619 (L619P)

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: L623P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000116643
Gene: ENSMUSG00000086564
AA Change: L623P

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: L619P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000126027
Gene: ENSMUSG00000086564
AA Change: L619P

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	A	G	17: 24,519,326 (GRCm39)	F653S	probably benign	Het
Acsm2	A	G	7: 119,172,804 (GRCm39)		probably null	Het
Aldh2	C	T	5: 121,713,188 (GRCm39)	G256D	probably benign	Het
Ankfn1	G	A	11: 89,429,292 (GRCm39)	H31Y	probably benign	Het
BC016579	A	T	16: 45,449,865 (GRCm39)	S184R	probably damaging	Het
Clec14a	A	T	12: 58,314,888 (GRCm39)	C245S	probably damaging	Het
Csmd2	T	C	4: 128,103,521 (GRCm39)	C247R	probably damaging	Het
Csnk2a1	G	T	2: 152,116,005 (GRCm39)		probably benign	Het
Dctn1	T	C	6: 83,169,496 (GRCm39)	S637P	possibly damaging	Het
Dhx40	A	T	11: 86,690,331 (GRCm39)	I230K	probably benign	Het
Dnah7b	T	C	1: 46,329,968 (GRCm39)	Y3271H	probably damaging	Het
Efcab5	A	T	11: 76,996,174 (GRCm39)	I1129N	probably damaging	Het
Gaa	G	T	11: 119,167,674 (GRCm39)	A445S	probably damaging	Het
Gldc	A	G	19: 30,113,909 (GRCm39)	S498P	probably damaging	Het
Gm973	T	C	1: 59,580,634 (GRCm39)		probably null	Het
Hpdl	T	C	4: 116,677,439 (GRCm39)	I341V	probably damaging	Het
Il23r	A	G	6: 67,463,078 (GRCm39)		probably null	Het
Kif9	T	A	9: 110,314,217 (GRCm39)	Y76N	probably damaging	Het
Lct	T	G	1: 128,227,905 (GRCm39)	E1196A	probably damaging	Het
Lrrc37a	T	C	11: 103,392,132 (GRCm39)	I1098V	possibly damaging	Het
Mroh1	A	G	15: 76,316,601 (GRCm39)		probably null	Het
Nmrk1	T	C	19: 18,618,623 (GRCm39)	L102P	probably damaging	Het
Nudcd3	A	T	11: 6,100,635 (GRCm39)		probably benign	Het
Ogdh	A	G	11: 6,298,270 (GRCm39)	T603A	probably benign	Het
Or12j2	A	T	7: 139,916,519 (GRCm39)	Y248F	possibly damaging	Het
Or8k38	T	A	2: 86,488,128 (GRCm39)	I225F	probably damaging	Het
Pcsk4	T	C	10: 80,158,626 (GRCm39)	Y542C	probably damaging	Het
Pkd2l2	T	A	18: 34,545,862 (GRCm39)	W88R	probably damaging	Het
Ppp1r1b	C	T	11: 98,242,096 (GRCm39)	T21I	possibly damaging	Het
Srebf2	C	A	15: 82,069,575 (GRCm39)	H706N	probably damaging	Het
Stradb	T	C	1: 59,019,121 (GRCm39)	V14A	probably damaging	Het
Svep1	T	C	4: 58,069,804 (GRCm39)	T2661A	possibly damaging	Het
Tnn	A	T	1: 159,943,848 (GRCm39)	S988R	possibly damaging	Het
Trpm6	C	A	19: 18,843,621 (GRCm39)	Q1662K	probably benign	Het
Utp3	T	A	5: 88,703,267 (GRCm39)	Y265*	probably null	Het
Vwf	A	G	6: 125,640,511 (GRCm39)	T2316A	probably benign	Het
Zfp90	T	C	8: 107,150,841 (GRCm39)	F185L	probably benign	Het
Zwilch	G	A	9: 64,057,509 (GRCm39)	T395I	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
IGL02450:Cd101	APN	3	100,901,054 (GRCm39)	missense	probably damaging	0.99
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
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

2015-12-18