Mutagenetix > Incidental Mutation

Incidental Mutation 'R0069:Cd101'

18014

Institutional Source

Beutler Lab

Gene Symbol

Cd101

Ensembl Gene

ENSMUSG00000086564

Gene Name

CD101 antigen

Synonyms

LOC381460, Igsf2

MMRRC Submission

038360-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0069 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

100900845-100936872 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 100915533 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 678 (V678A)

Ref Sequence

ENSEMBL: ENSMUSP00000126027 (fasta)

Gene Model

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

AlphaFold

A8E0Y8

Predicted Effect

probably benign
Transcript: ENSMUST00000147399
AA Change: V682A

PolyPhen 2 Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000116643
Gene: ENSMUSG00000086564
AA Change: V682A

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 benign
Transcript: ENSMUST00000167086
AA Change: V678A

PolyPhen 2 Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000126027
Gene: ENSMUSG00000086564
AA Change: V678A

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

0.1611

Coding Region Coverage

1x: 86.4%
3x: 80.4%
10x: 57.4%
20x: 26.1%

Validation Efficiency

94% (60/64)

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: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	A	T	6: 128,538,525 (GRCm39)	C632S	probably damaging	Het
Ccnb1ip1	G	A	14: 81,519,382 (GRCm38)	Q322*	probably null	Het
Creb1	A	G	1: 64,615,367 (GRCm39)	I240V	possibly damaging	Het
Dctn2	A	T	10: 127,113,354 (GRCm39)		probably null	Het
Diablo	A	T	5: 123,656,087 (GRCm39)	S117R	probably damaging	Het
Ebf2	A	T	14: 67,647,499 (GRCm39)	R349S	probably damaging	Het
Gne	A	C	4: 44,060,099 (GRCm39)	V98G	probably damaging	Het
Ints3	A	G	3: 90,307,954 (GRCm39)		probably benign	Het
Itgal	A	G	7: 126,909,503 (GRCm39)	T56A	probably benign	Het
Lzts3	T	A	2: 130,478,460 (GRCm39)	T213S	probably benign	Het
Myo1d	A	G	11: 80,528,779 (GRCm39)	I681T	probably damaging	Het
Pde8a	T	C	7: 80,968,871 (GRCm39)		probably benign	Het
Pole2	A	T	12: 69,256,661 (GRCm39)	V288E	probably damaging	Het
Poteg	T	C	8: 27,937,849 (GRCm39)	S2P	probably benign	Het
Ppp2r5c	A	T	12: 110,534,204 (GRCm39)	M356L	probably benign	Het
Rad54l2	C	A	9: 106,587,564 (GRCm39)	V734L	possibly damaging	Het
Ryr1	A	C	7: 28,809,930 (GRCm39)		probably benign	Het
Slfn10-ps	A	G	11: 82,926,368 (GRCm39)		noncoding transcript	Het
Sult1e1	A	T	5: 87,727,756 (GRCm39)	H175Q	probably damaging	Het
Trgv7	A	G	13: 19,362,592 (GRCm39)	R94G	probably benign	Het
Ube2e3	C	A	2: 78,750,293 (GRCm39)		probably benign	Het
Vps13d	A	G	4: 144,789,133 (GRCm39)	I746T	probably benign	Het
Xpnpep3	T	C	15: 81,314,999 (GRCm39)	V233A	probably benign	Het
Zfp329	A	T	7: 12,544,859 (GRCm39)	S222T	probably damaging	Het
Zswim6	T	C	13: 107,875,098 (GRCm39)		noncoding transcript	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
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

2013-03-25