Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01893:Themis3'

179296

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Themis3

Ensembl Gene

ENSMUSG00000024105

Gene Name

thymocyte selection associated family member 3

Synonyms

9130404H23Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

IGL01893

Quality Score

Status

Chromosome

Chromosomal Location

66861500-66901616 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 66866622 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 206 (L206P)

Ref Sequence

ENSEMBL: ENSMUSP00000024914 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024914]

AlphaFold

Q9CU24

Predicted Effect

possibly damaging
Transcript: ENSMUST00000024914
AA Change: L206P

PolyPhen 2 Score 0.516 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000024914
Gene: ENSMUSG00000024105
AA Change: L206P

Domain	Start	End	E-Value	Type
Pfam:CABIT	17	262	2e-48	PFAM
Pfam:CABIT	272	533	3.5e-49	PFAM
low complexity region	556	566	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agl	T	A	3: 116,582,198 (GRCm39)	I275F	probably damaging	Het
Avil	G	A	10: 126,856,415 (GRCm39)	E815K	possibly damaging	Het
Car9	T	A	4: 43,510,252 (GRCm39)	I278N	probably damaging	Het
Cast	T	A	13: 74,875,408 (GRCm39)	K480*	probably null	Het
Cenpj	A	G	14: 56,790,931 (GRCm39)	F373L	probably damaging	Het
Cspp1	T	C	1: 10,204,366 (GRCm39)		probably null	Het
Diaph3	G	A	14: 87,156,288 (GRCm39)	T675I	possibly damaging	Het
Dip2b	A	T	15: 100,069,101 (GRCm39)		probably benign	Het
Dnah1	T	C	14: 30,988,427 (GRCm39)	D3425G	probably damaging	Het
Dolk	A	G	2: 30,175,926 (GRCm39)	Y40H	probably benign	Het
Drosha	T	C	15: 12,866,736 (GRCm39)		probably benign	Het
Dusp15	A	G	2: 152,790,956 (GRCm39)		probably null	Het
Edrf1	T	C	7: 133,258,831 (GRCm39)	F770L	probably benign	Het
Gabra1	T	C	11: 42,024,586 (GRCm39)	K363R	possibly damaging	Het
Glipr1l1	A	C	10: 111,912,074 (GRCm39)	T203P	probably benign	Het
Gm10717	C	T	9: 3,025,616 (GRCm39)	S67L	probably benign	Het
Gm21738	G	A	14: 19,416,979 (GRCm38)	S144L	probably benign	Het
H2-Q10	T	C	17: 35,784,168 (GRCm39)	S270P	probably damaging	Het
Hipk2	A	T	6: 38,795,330 (GRCm39)	M313K	probably benign	Het
Htt	T	A	5: 35,034,174 (GRCm39)	I1920N	probably damaging	Het
Lsr	A	T	7: 30,661,657 (GRCm39)	V210E	possibly damaging	Het
Mbtd1	A	T	11: 93,812,238 (GRCm39)	I181L	probably null	Het
Mettl16	A	T	11: 74,696,097 (GRCm39)	T273S	possibly damaging	Het
Mlst8	T	C	17: 24,696,961 (GRCm39)	N74D	probably benign	Het
Nek9	A	G	12: 85,383,174 (GRCm39)	I102T	probably damaging	Het
Nme7	C	T	1: 164,172,850 (GRCm39)	A187V	probably damaging	Het
Nphp1	A	T	2: 127,611,564 (GRCm39)	W261R	probably damaging	Het
Or12e13	G	T	2: 87,664,207 (GRCm39)	G275*	probably null	Het
Or2h2	A	G	17: 37,396,760 (GRCm39)	L99P	probably damaging	Het
Or4f14	A	T	2: 111,742,589 (GRCm39)	S229T	possibly damaging	Het
Orc6	A	G	8: 86,034,272 (GRCm39)	D165G	probably damaging	Het
Ovca2	A	G	11: 75,069,133 (GRCm39)	S89P	probably benign	Het
Pcdhb12	T	G	18: 37,570,263 (GRCm39)	S470A	probably benign	Het
Phactr2	T	C	10: 13,122,932 (GRCm39)	T397A	probably benign	Het
Pms2	T	C	5: 143,860,337 (GRCm39)	L50P	probably damaging	Het
Prr36	G	A	8: 4,265,243 (GRCm39)	P169L	probably damaging	Het
Serpinb11	C	A	1: 107,305,387 (GRCm39)	S254R	probably benign	Het
Serpinb11	C	A	1: 107,305,388 (GRCm39)	Q255K	probably benign	Het
Skap2	T	C	6: 51,851,556 (GRCm39)	T79A	probably damaging	Het
Sp140l2	A	G	1: 85,231,907 (GRCm39)		probably benign	Het
Tbx19	A	T	1: 164,967,767 (GRCm39)	S327T	possibly damaging	Het
Tmem132c	T	A	5: 127,540,093 (GRCm39)	L373Q	possibly damaging	Het
Unc13c	G	T	9: 73,600,648 (GRCm39)	N1365K	probably benign	Het
Vmn2r106	A	T	17: 20,497,730 (GRCm39)	M503K	probably benign	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het
Vmn2r33	A	G	7: 7,566,776 (GRCm39)	I112T	probably benign	Het
Vps13a	A	C	19: 16,641,139 (GRCm39)	W2328G	probably damaging	Het

Other mutations in Themis3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01413:Themis3	APN	17	66,863,092 (GRCm39)	missense	probably benign	0.02
IGL02065:Themis3	APN	17	66,862,900 (GRCm39)	missense	probably benign	0.02
Nosedive	UTSW	17	66,866,949 (GRCm39)	missense	probably benign	0.18
Weightless	UTSW	17	66,862,605 (GRCm39)	missense	probably benign
R0345:Themis3	UTSW	17	66,866,540 (GRCm39)	critical splice donor site	probably null
R0538:Themis3	UTSW	17	66,900,265 (GRCm39)	missense	possibly damaging	0.95
R0583:Themis3	UTSW	17	66,866,748 (GRCm39)	missense	probably benign	0.01
R1494:Themis3	UTSW	17	66,866,949 (GRCm39)	missense	probably benign	0.18
R1713:Themis3	UTSW	17	66,862,848 (GRCm39)	missense	probably benign	0.00
R2271:Themis3	UTSW	17	66,862,699 (GRCm39)	missense	possibly damaging	0.57
R4214:Themis3	UTSW	17	66,867,012 (GRCm39)	missense	probably benign	0.09
R5575:Themis3	UTSW	17	66,862,321 (GRCm39)	missense	possibly damaging	0.85
R5815:Themis3	UTSW	17	66,862,699 (GRCm39)	missense	possibly damaging	0.57
R6018:Themis3	UTSW	17	66,900,204 (GRCm39)	missense	probably damaging	0.99
R7804:Themis3	UTSW	17	66,862,605 (GRCm39)	missense	probably benign
R8241:Themis3	UTSW	17	66,866,962 (GRCm39)	missense	probably benign	0.00
R8268:Themis3	UTSW	17	66,862,786 (GRCm39)	missense	probably benign
R8762:Themis3	UTSW	17	66,866,676 (GRCm39)	missense	probably benign	0.00
R8980:Themis3	UTSW	17	66,862,536 (GRCm39)	missense	probably damaging	0.97
R9051:Themis3	UTSW	17	66,862,864 (GRCm39)	missense	probably benign	0.07
R9429:Themis3	UTSW	17	66,866,665 (GRCm39)	missense	probably damaging	0.98
Z1177:Themis3	UTSW	17	66,862,497 (GRCm39)	missense	possibly damaging	0.64

Posted On

2014-05-07