Mutagenetix > Incidental Mutation

Incidental Mutation 'R7565:Cd101'

585361

Institutional Source

Beutler Lab

Gene Symbol

Cd101

Ensembl Gene

ENSMUSG00000086564

Gene Name

CD101 antigen

Synonyms

Igsf2, LOC381460

MMRRC Submission

045710-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7565 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

100993529-101029556 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 101018792 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 208 (T208A)

Ref Sequence

ENSEMBL: ENSMUSP00000116643 (fasta)

Gene Model

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

AlphaFold

A8E0Y8

Predicted Effect

probably benign
Transcript: ENSMUST00000147399
AA Change: T208A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000116643
Gene: ENSMUSG00000086564
AA Change: T208A

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: T204A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000126027
Gene: ENSMUSG00000086564
AA Change: T204A

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: 100.0%
3x: 99.9%
10x: 99.6%
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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931408C20Rik	A	T	1: 26,685,270	N276K	probably benign	Het
9830107B12Rik	T	A	17: 48,145,579	Y63F	possibly damaging	Het
Abi1	A	T	2: 22,946,584	I421N	probably benign	Het
Ahnak	A	G	19: 9,016,156	I4935V	probably benign	Het
Atg12	A	C	18: 46,734,484	V131G	probably damaging	Het
BC028528	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	3: 95,888,136		probably benign	Het
BC028528	CACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGT	CACTGGTTCTGTGGTGACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGT	3: 95,888,138		probably benign	Het
BC028528	TTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGG	TTCTGTGGTCACTGGGTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGG	3: 95,888,144		probably benign	Het
Bcl3	C	T	7: 19,812,494	V139I	probably damaging	Het
Bloc1s4	T	A	5: 36,748,345	M101L	probably benign	Het
Bmp6	C	T	13: 38,346,257	Q109*	probably null	Het
Cabyr	C	T	18: 12,744,599	T28I	possibly damaging	Het
Catsper3	T	C	13: 55,784,725	S22P	probably benign	Het
Catsperg2	A	T	7: 29,712,981	C395S	probably null	Het
Chaf1a	A	G	17: 56,064,148	S678G	probably benign	Het
Chrna2	A	C	14: 66,151,035	I500L	probably benign	Het
Cln6	C	T	9: 62,850,757	T266I	possibly damaging	Het
Col17a1	T	A	19: 47,671,524	T330S	possibly damaging	Het
Cyp2d40	A	G	15: 82,760,774	V225A	unknown	Het
Dnah10	A	G	5: 124,799,031	N2645D	probably damaging	Het
Dph5	T	A	3: 115,892,797	V74D	probably benign	Het
Dthd1	A	T	5: 62,843,092	I586L	probably damaging	Het
Elane	G	A	10: 79,887,045	R95Q	probably benign	Het
Fbxw17	A	G	13: 50,433,362	T453A	probably damaging	Het
Fpr3	C	A	17: 17,970,965	T166K	probably damaging	Het
Fryl	A	G	5: 73,033,720	I2724T	probably benign	Het
Fsip2	C	T	2: 82,949,512	R201C	probably damaging	Het
Gm14496	T	A	2: 181,991,257	F11Y	possibly damaging	Het
Gm14496	A	G	2: 182,000,837	N767S	probably damaging	Het
Hyal4	T	A	6: 24,765,934	M429K	possibly damaging	Het
Itgad	A	T	7: 128,183,015	T208S	probably damaging	Het
Itpr3	T	G	17: 27,110,888	L1552R	probably benign	Het
Kcp	C	T	6: 29,499,187	C292Y	probably damaging	Het
Kdr	T	C	5: 75,948,843	K958R	probably damaging	Het
Klhl22	T	A	16: 17,789,284	W485R	probably damaging	Het
Ldhb	T	A	6: 142,492,519	I271F	possibly damaging	Het
Lmo7	A	G	14: 101,885,301	R309G	probably damaging	Het
Marco	C	A	1: 120,474,666	C517F	probably damaging	Het
Mpdz	G	A	4: 81,303,654	T1423I	probably benign	Het
Ncoa2	T	C	1: 13,148,376	S1410G	probably benign	Het
Ncor1	T	C	11: 62,401,265	N283S	probably damaging	Het
Nlrp14	T	A	7: 107,181,887	L97*	probably null	Het
Olfm3	T	G	3: 115,122,744	S442A	probably damaging	Het
Olfr116	T	C	17: 37,624,501	I45V	probably damaging	Het
Olfr1436	T	C	19: 12,298,848	T95A	probably benign	Het
Olfr693	T	C	7: 106,678,126	Y120C	probably damaging	Het
Olfr76	T	A	19: 12,120,011	S234C	probably benign	Het
Olfr796	A	G	10: 129,608,160	V107A	possibly damaging	Het
Pank4	G	A	4: 154,980,550	V769I	probably benign	Het
Pdgfrb	G	A	18: 61,083,264	D1065N	probably damaging	Het
Ppp1r12a	G	A	10: 108,268,640	S911N	probably benign	Het
Prdx6b	A	G	2: 80,292,990	T48A	probably damaging	Het
Pttg1ip	A	G	10: 77,597,036	K166E	probably damaging	Het
Rabgap1l	T	C	1: 160,251,417	D9G		Het
Rpl13a	C	T	7: 45,127,042	G69S	probably benign	Het
Rps6ka5	T	A	12: 100,616,083	I177F	probably damaging	Het
Rttn	C	A	18: 89,060,479	A1343E	probably damaging	Het
Ryr2	C	T	13: 11,560,653	V4820I	possibly damaging	Het
Slc12a7	A	G	13: 73,790,772	I223V	possibly damaging	Het
Slc9a3	G	A	13: 74,157,694	V277M	probably damaging	Het
Spata13	A	T	14: 60,751,849	Y988F	probably damaging	Het
Spo11	A	G	2: 172,992,071	I329V	possibly damaging	Het
Tcp11l2	A	T	10: 84,587,134	D63V	probably damaging	Het
Tdrd3	G	A	14: 87,506,593	W659*	probably null	Het
Thnsl2	T	C	6: 71,141,327	D39G	probably benign	Het
Thumpd1	A	T	7: 119,716,862	L288*	probably null	Het
Tram1l1	T	C	3: 124,321,907	Y239H	probably damaging	Het
Usp38	T	A	8: 80,981,972	E992D	probably damaging	Het
Usp45	A	G	4: 21,784,790	T159A	probably benign	Het
Vmn1r218	C	T	13: 23,136,660	T59I	probably benign	Het
Vmn2r70	T	C	7: 85,565,291	I218V	probably benign	Het
Xpr1	T	C	1: 155,307,742	I461V	probably benign	Het
Ydjc	T	C	16: 17,147,005	L8P	probably damaging	Het
Yme1l1	A	T	2: 23,160,220	N21I	possibly damaging	Het
Zfhx4	T	C	3: 5,390,366	L1140P	probably benign	Het

Other mutations in Cd101

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00958:Cd101	APN	3	101003702	missense	probably damaging	1.00
IGL01443:Cd101	APN	3	101003571	missense	probably benign
IGL02000:Cd101	APN	3	101012082	missense	probably benign	0.11
IGL02178:Cd101	APN	3	100993766	missense	probably damaging	1.00
IGL02224:Cd101	APN	3	101017002	missense	probably benign
IGL02450:Cd101	APN	3	100993738	missense	probably damaging	0.99
IGL02502:Cd101	APN	3	101011825	missense	probably damaging	0.99
IGL02536:Cd101	APN	3	101003597	missense	probably damaging	1.00
IGL02749:Cd101	APN	3	101020399	missense	probably damaging	1.00
IGL02818:Cd101	APN	3	101011929	missense	probably damaging	1.00
IGL02829:Cd101	APN	3	101018565	splice site	probably benign
IGL02902:Cd101	APN	3	101018994	splice site	probably benign
tax_day	UTSW	3	101003705	missense	possibly damaging	0.86
R0069:Cd101	UTSW	3	101008217	missense	probably benign	0.08
R0069:Cd101	UTSW	3	101008217	missense	probably benign	0.08
R0411:Cd101	UTSW	3	101018527	splice site	probably null
R0486:Cd101	UTSW	3	101008092	missense	possibly damaging	0.94
R0556:Cd101	UTSW	3	101020654	missense	probably damaging	1.00
R0726:Cd101	UTSW	3	101020622	missense	possibly damaging	0.95
R0966:Cd101	UTSW	3	101008222	missense	probably benign	0.13
R1344:Cd101	UTSW	3	101018775	nonsense	probably null
R1418:Cd101	UTSW	3	101018775	nonsense	probably null
R1547:Cd101	UTSW	3	101018951	missense	possibly damaging	0.94
R1551:Cd101	UTSW	3	101012013	missense	probably damaging	0.99
R1845:Cd101	UTSW	3	101029448	splice site	probably null
R1919:Cd101	UTSW	3	101018917	missense	probably damaging	1.00
R1976:Cd101	UTSW	3	101008061	missense	probably damaging	0.96
R2260:Cd101	UTSW	3	101016945	missense	possibly damaging	0.82
R2679:Cd101	UTSW	3	100993763	missense	probably benign	0.00
R2873:Cd101	UTSW	3	101003848	missense	probably benign	0.00
R3606:Cd101	UTSW	3	101020597	missense	probably damaging	1.00
R4201:Cd101	UTSW	3	101018685	missense	probably damaging	1.00
R4202:Cd101	UTSW	3	101018685	missense	probably damaging	1.00
R4205:Cd101	UTSW	3	101018685	missense	probably damaging	1.00
R4349:Cd101	UTSW	3	101013314	missense	possibly damaging	0.93
R4574:Cd101	UTSW	3	101013153	missense	probably benign	0.02
R4601:Cd101	UTSW	3	100993888	missense	possibly damaging	0.84
R4820:Cd101	UTSW	3	101022155	missense	probably benign	0.01
R4910:Cd101	UTSW	3	100993889	missense	probably benign	0.13
R5014:Cd101	UTSW	3	101003823	missense	probably damaging	0.99
R5081:Cd101	UTSW	3	101003705	missense	possibly damaging	0.86
R5396:Cd101	UTSW	3	101018810	missense	probably damaging	1.00
R5425:Cd101	UTSW	3	101018686	missense	probably damaging	1.00
R6193:Cd101	UTSW	3	101020462	missense	probably damaging	1.00
R6210:Cd101	UTSW	3	101018643	missense	probably damaging	1.00
R6732:Cd101	UTSW	3	101008199	missense	probably benign	0.01
R6830:Cd101	UTSW	3	100993696	missense	probably benign	0.12
R6897:Cd101	UTSW	3	101013060	missense	probably damaging	1.00
R6940:Cd101	UTSW	3	101003702	missense	probably damaging	1.00
R7335:Cd101	UTSW	3	101018729	missense	probably benign	0.01
R7880:Cd101	UTSW	3	101007866	missense	probably benign	0.00
R8121:Cd101	UTSW	3	101020582	missense	probably damaging	1.00
R8233:Cd101	UTSW	3	100993673	missense	unknown
R8900:Cd101	UTSW	3	101018746	missense	probably benign	0.19
R8960:Cd101	UTSW	3	101003501	missense	probably benign	0.01
R9260:Cd101	UTSW	3	101013283	missense	probably benign	0.16
R9335:Cd101	UTSW	3	101008115	missense	probably benign	0.18
R9663:Cd101	UTSW	3	101003906	missense	probably benign	0.21
X0018:Cd101	UTSW	3	101018632	missense	possibly damaging	0.95
X0023:Cd101	UTSW	3	101018855	missense	probably benign
X0058:Cd101	UTSW	3	101020421	missense	probably damaging	1.00
Z1177:Cd101	UTSW	3	101011916	missense	probably benign	0.03
Z1177:Cd101	UTSW	3	101017140	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- TGGATCCTCAGAGCTGTTTG -3'
(R):5'- TTTCCAGTGGTTCCCGACAC -3'

Sequencing Primer
(F):5'- GCTTTCTTGTGATCAAAGTCCACG -3'
(R):5'- GACACCCTGTCTGCCAC -3'

Posted On

2019-10-17