Mutagenetix > Incidental Mutation

Incidental Mutation 'R8233:Cd101'

637213

Institutional Source

Beutler Lab

Gene Symbol

Cd101

Ensembl Gene

ENSMUSG00000086564

Gene Name

CD101 antigen

Synonyms

LOC381460, Igsf2

MMRRC Submission

067665-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8233 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

100900845-100936872 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 100900989 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 1032 (H1032N)

Ref Sequence

ENSEMBL: ENSMUSP00000116643 (fasta)

Gene Model

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

AlphaFold

A8E0Y8

Predicted Effect

unknown
Transcript: ENSMUST00000147399
AA Change: H1032N

SMART Domains

Protein: ENSMUSP00000116643
Gene: ENSMUSG00000086564
AA Change: H1032N

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

unknown
Transcript: ENSMUST00000167086
AA Change: H1028N

SMART Domains

Protein: ENSMUSP00000126027
Gene: ENSMUSG00000086564
AA Change: H1028N

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

1x: 99.9%
3x: 99.9%
10x: 99.5%
20x: 98.8%

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
4930503L19Rik	A	T	18: 70,602,687 (GRCm39)	V42E	probably benign	Het
Abca12	T	C	1: 71,390,916 (GRCm39)	E153G	probably benign	Het
Adamts20	A	C	15: 94,189,533 (GRCm39)	I1440S	probably benign	Het
Aspm	T	A	1: 139,385,042 (GRCm39)	S229T	probably benign	Het
Atp2b2	A	T	6: 113,742,680 (GRCm39)		probably null	Het
Col6a2	A	G	10: 76,444,540 (GRCm39)		probably null	Het
Crot	A	T	5: 9,026,027 (GRCm39)	I320K	possibly damaging	Het
D5Ertd579e	A	T	5: 36,772,588 (GRCm39)	D602E	probably damaging	Het
Degs1	A	G	1: 182,107,160 (GRCm39)	V69A	probably benign	Het
Dgkz	A	G	2: 91,769,994 (GRCm39)	S557P	probably damaging	Het
Fat1	T	A	8: 45,405,055 (GRCm39)	L602Q		Het
Gli2	A	T	1: 118,772,167 (GRCm39)	Y513N	probably damaging	Het
H2-Q10	A	G	17: 35,781,983 (GRCm39)	T202A	probably benign	Het
Hnrnpa3	A	G	2: 75,492,860 (GRCm39)	N195D	probably benign	Het
Ifna1	C	T	4: 88,768,628 (GRCm39)	T102I	possibly damaging	Het
Igfbp3	T	A	11: 7,160,152 (GRCm39)	H167L	probably benign	Het
Igfn1	T	C	1: 135,895,782 (GRCm39)	T1595A	probably benign	Het
Krt14	A	G	11: 100,094,178 (GRCm39)	V472A	probably damaging	Het
Lrrc74b	T	A	16: 17,376,089 (GRCm39)	H187L	probably benign	Het
Magoh	T	G	4: 107,738,132 (GRCm39)	V44G	possibly damaging	Het
Mbnl1	A	T	3: 60,532,551 (GRCm39)	I274L	probably benign	Het
Or13a27	T	G	7: 139,925,411 (GRCm39)	M164L	probably benign	Het
Or4c108	C	T	2: 88,804,082 (GRCm39)	R51H	probably benign	Het
Pdcd1	A	G	1: 93,967,142 (GRCm39)	V252A	probably damaging	Het
Peg10	C	CTCA	6: 4,756,453 (GRCm39)		probably benign	Het
Plcxd3	A	G	15: 4,546,317 (GRCm39)	D107G	possibly damaging	Het
Polr2m	T	A	9: 71,390,866 (GRCm39)	D112V	probably benign	Het
Ptprn	A	T	1: 75,229,796 (GRCm39)	M701K	probably damaging	Het
Rxrb	A	G	17: 34,255,879 (GRCm39)	D421G	possibly damaging	Het
Slfn4	A	G	11: 83,078,355 (GRCm39)	E381G	probably damaging	Het
Son	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	16: 91,457,222 (GRCm39)		probably benign	Het
Srgap1	A	G	10: 121,661,341 (GRCm39)	I530T	probably damaging	Het
Stmn4	A	G	14: 66,595,341 (GRCm39)	H122R	probably damaging	Het
Sycp2	T	C	2: 177,998,427 (GRCm39)	E1031G	probably damaging	Het
Tle1	T	C	4: 72,043,181 (GRCm39)	T553A	probably benign	Het
Tnik	T	A	3: 28,609,086 (GRCm39)	W217R	unknown	Het
Tyrp1	T	C	4: 80,769,190 (GRCm39)	V161A	unknown	Het
Usp29	T	A	7: 6,965,406 (GRCm39)	F416L	probably benign	Het
Usp45	T	C	4: 21,781,736 (GRCm39)	V34A	probably benign	Het
Vmn1r119	A	G	7: 20,745,932 (GRCm39)	V150A	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
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
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'- TGGTTGCTACACAAAGAAACACTC -3'
(R):5'- TTTCTCTGGTTGCAGAGCCC -3'

Sequencing Primer
(F):5'- GAAACACTCGACAAGATATGGTTAAC -3'
(R):5'- TTGCAGAGCCCACGGTCTC -3'

Posted On

2020-07-13