Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02743:Themis2'

305985

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Themis2

Ensembl Gene

ENSMUSG00000037731

Gene Name

thymocyte selection associated family member 2

Synonyms

ICB-1, BC013712

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02743

Quality Score

Status

Chromosome

Chromosomal Location

132509148-132523675 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 132510795 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 582 (E582D)

Ref Sequence

ENSEMBL: ENSMUSP00000036945 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045154] [ENSMUST00000102561]

AlphaFold

Q91YX0

Predicted Effect

probably benign
Transcript: ENSMUST00000045154
AA Change: E582D

PolyPhen 2 Score 0.366 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000036945
Gene: ENSMUSG00000037731
AA Change: E582D

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

Predicted Effect

probably benign
Transcript: ENSMUST00000102561

SMART Domains

Protein: ENSMUSP00000099621
Gene: ENSMUSG00000028884

Domain	Start	End	E-Value	Type
low complexity region	8	21	N/A	INTRINSIC
Pfam:RPA_C	166	262	1.7e-29	PFAM

Coding Region Coverage

Validation Efficiency

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ambn	A	C	5: 88,612,343 (GRCm39)	D188A	probably damaging	Het
Arfgef1	T	C	1: 10,270,054 (GRCm39)	E365G	probably benign	Het
Arhgef10	C	T	8: 14,980,198 (GRCm39)	A146V	probably benign	Het
AW554918	C	T	18: 25,423,001 (GRCm39)	Q151*	probably null	Het
Chd6	T	C	2: 160,802,183 (GRCm39)	D2217G	probably damaging	Het
Cntn5	T	A	9: 9,984,115 (GRCm39)	E166V	probably damaging	Het
Cyp4f15	T	C	17: 32,918,926 (GRCm39)	S319P	possibly damaging	Het
Dna2	G	A	10: 62,792,821 (GRCm39)	V279I	possibly damaging	Het
Edrf1	A	G	7: 133,258,220 (GRCm39)		probably benign	Het
Fmo3	A	T	1: 162,786,052 (GRCm39)	F313I	probably damaging	Het
Kcnj10	A	G	1: 172,197,221 (GRCm39)	D245G	possibly damaging	Het
Lrsam1	T	C	2: 32,818,661 (GRCm39)		probably null	Het
Mfn1	A	T	3: 32,628,439 (GRCm39)	H690L	probably benign	Het
Msh2	T	C	17: 88,014,643 (GRCm39)	F474L	probably damaging	Het
Nlrp4a	T	G	7: 26,159,240 (GRCm39)		probably benign	Het
Or2t44	T	A	11: 58,677,606 (GRCm39)	L182*	probably null	Het
Or4d10b	A	G	19: 12,036,811 (GRCm39)	F102L	probably damaging	Het
Or4k45	T	A	2: 111,394,888 (GRCm39)	R300S	possibly damaging	Het
Or51f5	T	A	7: 102,424,505 (GRCm39)	I258N	probably damaging	Het
Or52n2c	T	C	7: 104,574,075 (GRCm39)	T299A	probably damaging	Het
Or8g35	G	A	9: 39,381,542 (GRCm39)	T160I	probably benign	Het
Plcxd3	G	A	15: 4,604,285 (GRCm39)	V298I	possibly damaging	Het
Prrc2b	C	T	2: 32,084,441 (GRCm39)	S302F	probably damaging	Het
Serpine2	A	T	1: 79,779,272 (GRCm39)	F149I	probably damaging	Het
Slc24a5	T	C	2: 124,930,154 (GRCm39)	L485P	probably damaging	Het
Spg11	T	A	2: 121,889,988 (GRCm39)	H2118L	probably damaging	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Stxbp1	T	C	2: 32,709,913 (GRCm39)	D60G	probably damaging	Het
Tmem131	T	G	1: 36,832,232 (GRCm39)	I1802L	probably benign	Het
Tnrc6a	A	G	7: 122,770,696 (GRCm39)	K829E	probably damaging	Het
Usp8	T	C	2: 126,575,943 (GRCm39)	M213T	probably damaging	Het
Wnk2	A	G	13: 49,248,920 (GRCm39)	V377A	probably damaging	Het
Wwox	T	G	8: 116,078,443 (GRCm39)	Y375D	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
IGL02934:Themis2	APN	4	132,516,862 (GRCm39)	missense	probably damaging	0.99
R0111:Themis2	UTSW	4	132,517,236 (GRCm39)	missense	probably benign	0.17
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

Posted On

2015-04-16