Mutagenetix > Incidental Mutation

Incidental Mutation 'R0111:Themis2'

20441

Institutional Source

Beutler Lab

Gene Symbol

Themis2

Ensembl Gene

ENSMUSG00000037731

Gene Name

thymocyte selection associated family member 2

Synonyms

ICB-1, BC013712

MMRRC Submission

038397-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0111 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

132509148-132523675 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 132517236 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 88 (R88L)

Ref Sequence

ENSEMBL: ENSMUSP00000036945 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045154]

AlphaFold

Q91YX0

Predicted Effect

probably benign
Transcript: ENSMUST00000045154
AA Change: R88L

PolyPhen 2 Score 0.174 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000036945
Gene: ENSMUSG00000037731
AA Change: R88L

Domain	Start	End	E-Value	Type
Pfam:CABIT	18	242	1.1e-23	PFAM
Pfam:CABIT	267	524	5.3e-50	PFAM
low complexity region	648	659	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.2%
20x: 92.8%

Validation Efficiency

100% (65/65)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal B cell development, activation, and antibody responses. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre4	A	T	17: 56,124,073 (GRCm39)	H491L	possibly damaging	Het
Adgrg3	T	C	8: 95,761,738 (GRCm39)		probably benign	Het
Arhgap5	T	C	12: 52,606,743 (GRCm39)		probably benign	Het
Asic1	T	C	15: 99,594,864 (GRCm39)	Y334H	probably damaging	Het
Calcr	T	A	6: 3,717,157 (GRCm39)	D101V	probably damaging	Het
Cdh2	A	T	18: 16,907,566 (GRCm39)	N57K	probably benign	Het
Clec4d	C	A	6: 123,245,006 (GRCm39)	Y95*	probably null	Het
Cracr2a	A	G	6: 127,581,024 (GRCm39)	T67A	probably benign	Het
Dennd5a	A	T	7: 109,533,961 (GRCm39)	V53D	probably damaging	Het
Dnah7a	T	C	1: 53,507,843 (GRCm39)	D3076G	probably benign	Het
Espnl	T	C	1: 91,272,464 (GRCm39)	M608T	probably benign	Het
Fam149a	C	T	8: 45,794,183 (GRCm39)		probably benign	Het
Flnc	T	C	6: 29,454,339 (GRCm39)	V1884A	probably damaging	Het
Helz2	A	C	2: 180,879,595 (GRCm39)	S674R	probably benign	Het
Hoxa2	T	G	6: 52,141,467 (GRCm39)		probably null	Het
Ifi47	T	A	11: 48,986,897 (GRCm39)	N221K	probably damaging	Het
Ipo9	A	G	1: 135,333,662 (GRCm39)	V340A	probably damaging	Het
Kalrn	A	T	16: 33,851,960 (GRCm39)	N373K	probably damaging	Het
Kif26a	T	C	12: 112,129,771 (GRCm39)		probably benign	Het
Kiss1r	A	G	10: 79,754,523 (GRCm39)	T6A	possibly damaging	Het
Lama1	A	T	17: 68,044,493 (GRCm39)	I131F	probably damaging	Het
Nefm	T	C	14: 68,361,991 (GRCm39)	D91G	probably benign	Het
Nos3	C	T	5: 24,577,702 (GRCm39)	T572I	probably damaging	Het
Notch2	T	C	3: 98,046,077 (GRCm39)	F1710L	probably benign	Het
Or13e8	T	C	4: 43,696,648 (GRCm39)	N175S	probably damaging	Het
Or6c6c	T	A	10: 129,541,146 (GRCm39)	I133N	probably damaging	Het
Ostm1	T	C	10: 42,555,254 (GRCm39)	L92P	probably damaging	Het
Pcdh15	T	A	10: 74,462,651 (GRCm39)	Y1445*	probably null	Het
Pde1b	T	C	15: 103,411,940 (GRCm39)	S14P	probably benign	Het
Pitpna	T	C	11: 75,516,310 (GRCm39)	V265A	probably benign	Het
Plec	G	T	15: 76,062,846 (GRCm39)	T2476K	probably damaging	Het
Pold2	A	G	11: 5,826,760 (GRCm39)	L58P	probably damaging	Het
Ppp3cc	C	T	14: 70,493,808 (GRCm39)		probably null	Het
Prss36	A	G	7: 127,533,717 (GRCm39)	L530P	probably damaging	Het
Ptpn13	T	C	5: 103,728,629 (GRCm39)		probably benign	Het
Ptpn23	T	C	9: 110,214,691 (GRCm39)	D1570G	probably damaging	Het
Rab42	T	C	4: 132,029,676 (GRCm39)	D182G	possibly damaging	Het
Rbm27	T	A	18: 42,438,737 (GRCm39)		probably benign	Het
Rp1	T	C	1: 4,414,983 (GRCm39)	E2043G	probably damaging	Het
Rufy3	C	T	5: 88,778,443 (GRCm39)	S341F	probably damaging	Het
Samd9l	C	T	6: 3,374,946 (GRCm39)	V772I	possibly damaging	Het
Scaper	A	G	9: 55,510,074 (GRCm39)	M654T	probably benign	Het
Shld2	T	C	14: 33,989,686 (GRCm39)	K407E	probably damaging	Het
Sipa1l3	G	A	7: 29,047,743 (GRCm39)	P333S	probably damaging	Het
Slc30a10	C	A	1: 185,187,744 (GRCm39)	R162S	probably benign	Het
Spryd3	A	T	15: 102,036,972 (GRCm39)		probably null	Het
Tas2r110	T	C	6: 132,845,166 (GRCm39)	F66L	probably benign	Het
Tent5c	T	C	3: 100,380,102 (GRCm39)	D218G	probably damaging	Het
Thap2	T	C	10: 115,208,532 (GRCm39)	N196S	probably benign	Het
Trip12	A	T	1: 84,736,854 (GRCm39)		probably benign	Het
Ube3b	T	A	5: 114,528,437 (GRCm39)		probably benign	Het
Usp20	T	A	2: 30,892,624 (GRCm39)	H64Q	probably damaging	Het
Vmn2r100	C	A	17: 19,742,382 (GRCm39)	P252Q	possibly damaging	Het
Vmn2r15	T	C	5: 109,435,022 (GRCm39)	R561G	possibly damaging	Het
Vsig10l	A	G	7: 43,117,525 (GRCm39)	D604G	probably damaging	Het
Wdr90	A	G	17: 26,067,418 (GRCm39)		probably benign	Het
Xirp2	A	T	2: 67,338,722 (GRCm39)	N321I	probably damaging	Het
Zfp595	A	G	13: 67,468,984 (GRCm39)	F11S	possibly damaging	Het
Zfp953	T	A	13: 67,491,139 (GRCm39)	H271L	probably damaging	Het

Other mutations in Themis2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02009:Themis2	APN	4	132,512,753 (GRCm39)	missense	probably damaging	1.00
IGL02192:Themis2	APN	4	132,510,658 (GRCm39)	critical splice donor site	probably null
IGL02743:Themis2	APN	4	132,510,795 (GRCm39)	missense	probably benign	0.37
IGL02934:Themis2	APN	4	132,516,862 (GRCm39)	missense	probably damaging	0.99
R0598:Themis2	UTSW	4	132,516,994 (GRCm39)	missense	possibly damaging	0.93
R1445:Themis2	UTSW	4	132,510,212 (GRCm39)	missense	possibly damaging	0.53
R1484:Themis2	UTSW	4	132,519,796 (GRCm39)	missense	possibly damaging	0.94
R1719:Themis2	UTSW	4	132,516,960 (GRCm39)	missense	possibly damaging	0.95
R2076:Themis2	UTSW	4	132,513,113 (GRCm39)	missense	probably damaging	1.00
R3522:Themis2	UTSW	4	132,512,906 (GRCm39)	missense	probably damaging	1.00
R4620:Themis2	UTSW	4	132,513,333 (GRCm39)	missense	probably damaging	1.00
R4653:Themis2	UTSW	4	132,510,287 (GRCm39)	missense	probably benign	0.40
R4891:Themis2	UTSW	4	132,510,668 (GRCm39)	missense	probably benign	0.14
R5331:Themis2	UTSW	4	132,510,244 (GRCm39)	missense	possibly damaging	0.85
R5660:Themis2	UTSW	4	132,523,567 (GRCm39)	splice site	probably null
R6014:Themis2	UTSW	4	132,513,291 (GRCm39)	missense	probably benign	0.01
R6747:Themis2	UTSW	4	132,523,573 (GRCm39)	missense	possibly damaging	0.80
R6863:Themis2	UTSW	4	132,516,907 (GRCm39)	missense	probably damaging	1.00
R7380:Themis2	UTSW	4	132,513,528 (GRCm39)	missense	possibly damaging	0.93
R7890:Themis2	UTSW	4	132,516,954 (GRCm39)	missense	probably damaging	1.00
R7998:Themis2	UTSW	4	132,519,875 (GRCm39)	missense	probably damaging	0.99
R8847:Themis2	UTSW	4	132,513,509 (GRCm39)	missense	probably damaging	1.00
R9503:Themis2	UTSW	4	132,510,657 (GRCm39)	critical splice donor site	probably null
R9642:Themis2	UTSW	4	132,513,047 (GRCm39)	missense	possibly damaging	0.96

Predicted Primers

PCR Primer
(F):5'- TCCTTGGTCTTTGAGACCTGGACG -3'
(R):5'- TGTGTAAGAATGTGCCCCGATTCTG -3'

Sequencing Primer
(F):5'- GGCCTTGGTGACAATTCTCT -3'
(R):5'- TATTCACACACTCCATCCTTAGAC -3'

Posted On

2013-04-11