Mutagenetix > Incidental Mutation

Incidental Mutation 'R4202:Cd101'

318785

Institutional Source

Beutler Lab

Gene Symbol

Cd101

Ensembl Gene

ENSMUSG00000086564

Gene Name

CD101 antigen

Synonyms

LOC381460, Igsf2

MMRRC Submission

041032-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4202 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

100900845-100936872 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 100926001 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 239 (D239E)

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: D243E

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

SMART Domains

Protein: ENSMUSP00000116643
Gene: ENSMUSG00000086564
AA Change: D243E

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: D239E

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

SMART Domains

Protein: ENSMUSP00000126027
Gene: ENSMUSG00000086564
AA Change: D239E

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

Meta Mutation Damage Score

0.8711

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.5%

Validation Efficiency

92% (33/36)

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adsl	C	T	15: 80,836,417 (GRCm39)	T58I	probably damaging	Het
Ano7	A	G	1: 93,308,200 (GRCm39)	D77G	probably benign	Het
Ap2b1	T	A	11: 83,226,430 (GRCm39)		probably null	Het
Bclaf3	T	A	X: 158,336,829 (GRCm39)	S419T	probably damaging	Het
Bysl	A	G	17: 47,915,251 (GRCm39)	S166P	probably benign	Het
Cdc42bpb	G	A	12: 111,260,573 (GRCm39)	P1702S	probably benign	Het
Cfap65	G	T	1: 74,959,701 (GRCm39)	F816L	probably damaging	Het
Cnot6	T	C	11: 49,593,463 (GRCm39)	Y6C	probably damaging	Het
Csrp1	T	G	1: 135,673,065 (GRCm39)	C61G	probably damaging	Het
Gmeb2	A	G	2: 180,895,766 (GRCm39)	V468A	possibly damaging	Het
Gucy2g	A	G	19: 55,218,201 (GRCm39)	S416P	possibly damaging	Het
Hormad1	G	A	3: 95,492,509 (GRCm39)	R362H	probably benign	Het
Lancl2	T	A	6: 57,689,977 (GRCm39)	V61D	probably benign	Het
Lta4h	A	G	10: 93,306,669 (GRCm39)	D287G	probably damaging	Het
Maml1	A	T	11: 50,148,740 (GRCm39)	L1000Q	probably damaging	Het
Or6c206	T	C	10: 129,097,646 (GRCm39)	V272A	probably benign	Het
Or7a42	T	C	10: 78,791,129 (GRCm39)	V30A	probably benign	Het
Osbpl9	G	T	4: 109,029,437 (GRCm39)		probably benign	Het
Oser1	T	C	2: 163,253,375 (GRCm39)	T45A	probably benign	Het
Pip4p1	A	G	14: 51,168,112 (GRCm39)	S41P	probably damaging	Het
Ppfibp1	C	A	6: 146,931,079 (GRCm39)	S878R	probably damaging	Het
Prss43	T	A	9: 110,656,529 (GRCm39)	V72D	probably benign	Het
Sdhb	T	A	4: 140,706,379 (GRCm39)	M272K	possibly damaging	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Stx17	T	A	4: 48,158,870 (GRCm39)	D83E	probably damaging	Het
Tas2r138	T	C	6: 40,589,410 (GRCm39)	M279V	possibly damaging	Het
Tsku	C	T	7: 98,002,205 (GRCm39)	R42H	probably damaging	Het
Tyr	A	G	7: 87,078,276 (GRCm39)	L528P	possibly damaging	Het
Vmn2r87	T	C	10: 130,308,448 (GRCm39)	I597V	probably benign	Het
Wnt5b	T	C	6: 119,417,272 (GRCm39)	N198D	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
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
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

Predicted Primers

PCR Primer
(F):5'- GAGATCCCTACATACTCACTGAG -3'
(R):5'- CCCAGACGCTCAGTAAGAAG -3'

Sequencing Primer
(F):5'- CTGAGAATGAATTCACAGGTTCCCTG -3'
(R):5'- TCACCTGGTACCTGATGCAG -3'

Posted On

2015-06-10