Mutagenetix > Incidental Mutation

Incidental Mutation 'R8980:Themis3'

683707

Institutional Source

Beutler Lab

Gene Symbol

Themis3

Ensembl Gene

ENSMUSG00000024105

Gene Name

thymocyte selection associated family member 3

Synonyms

9130404H23Rik

MMRRC Submission

068813-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.084) question?

Stock #

R8980 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

66861500-66901616 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 66862536 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 474 (I474N)

Ref Sequence

ENSEMBL: ENSMUSP00000024914 (fasta)

Gene Model

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

AlphaFold

Q9CU24

Predicted Effect

probably damaging
Transcript: ENSMUST00000024914
AA Change: I474N

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000024914
Gene: ENSMUSG00000024105
AA Change: I474N

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

Meta Mutation Damage Score

0.6329

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (37/37)

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc1	G	C	16: 14,278,961 (GRCm39)	M1090I	probably damaging	Het
Ak7	T	A	12: 105,747,158 (GRCm39)	V675E	probably benign	Het
Ano10	T	A	9: 122,090,558 (GRCm39)	I252L	probably benign	Het
Ano6	A	G	15: 95,865,563 (GRCm39)	Y828C	probably damaging	Het
Aurkaip1	T	G	4: 155,916,873 (GRCm39)	S40R	probably damaging	Het
Bcl2l11	T	A	2: 128,000,200 (GRCm39)	I181N	possibly damaging	Het
Cdh23	T	C	10: 60,173,625 (GRCm39)	Y1621C	probably benign	Het
Cep68	A	T	11: 20,190,390 (GRCm39)	N207K	probably benign	Het
Clock	T	C	5: 76,402,286 (GRCm39)	I125V	probably benign	Het
Efcab8	G	C	2: 153,646,861 (GRCm39)	V397L	unknown	Het
Ephb6	C	T	6: 41,590,293 (GRCm39)	A15V	probably benign	Het
Eps15l1	A	T	8: 73,127,734 (GRCm39)	H614Q	probably benign	Het
Gm29106	G	A	1: 118,127,114 (GRCm39)	G269R	possibly damaging	Het
Hexb	A	G	13: 97,330,689 (GRCm39)	V108A	probably damaging	Het
Ibtk	G	T	9: 85,614,783 (GRCm39)	C185*	probably null	Het
Josd2	A	G	7: 44,117,702 (GRCm39)		probably benign	Het
Krt76	C	T	15: 101,800,990 (GRCm39)	G102D	unknown	Het
Nrap	T	A	19: 56,343,970 (GRCm39)	S645C	probably damaging	Het
Or7g12	A	G	9: 18,899,423 (GRCm39)	I46M	probably damaging	Het
Pramel38	T	C	5: 94,366,035 (GRCm39)	L51P	probably damaging	Het
Prl2c5	T	A	13: 13,360,470 (GRCm39)	F46I	probably benign	Het
Prss16	C	T	13: 22,187,212 (GRCm39)	V453I	probably benign	Het
Psd	A	G	19: 46,310,657 (GRCm39)	L464P	possibly damaging	Het
Ptprb	T	C	10: 116,119,526 (GRCm39)	L220P	probably benign	Het
Rab7	A	T	6: 87,977,502 (GRCm39)	V180E	probably benign	Het
Rc3h1	A	G	1: 160,782,595 (GRCm39)	I691M	probably benign	Het
Rnf150	A	G	8: 83,717,087 (GRCm39)	N198S	probably benign	Het
Sema4g	A	T	19: 44,981,583 (GRCm39)	M100L	probably benign	Het
Slc25a21	A	G	12: 56,816,949 (GRCm39)	S106P	probably benign	Het
Slc27a5	C	A	7: 12,725,090 (GRCm39)	R452S	probably benign	Het
St8sia5	A	G	18: 77,333,761 (GRCm39)		probably null	Het
Uckl1	C	A	2: 181,216,157 (GRCm39)		probably benign	Het
Vmn1r177	A	G	7: 23,565,144 (GRCm39)	V244A	probably damaging	Het
Vmn2r1	T	A	3: 64,010,501 (GRCm39)	Y580N		Het
Zfp1006	G	A	8: 129,945,680 (GRCm39)	P382S	probably damaging	Het
Zfp11	T	A	5: 129,737,843 (GRCm39)	M1L	probably benign	Het
Zfp462	TACCACCACCACCACCACCACCA	TACCACCACCACCACCACCA	4: 55,009,681 (GRCm39)		probably benign	Het
Zfp521	C	A	18: 13,979,137 (GRCm39)	L425F	probably damaging	Het
Zfp827	T	C	8: 79,803,092 (GRCm39)	S555P	probably benign	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
IGL01893:Themis3	APN	17	66,866,622 (GRCm39)	missense	possibly damaging	0.52
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
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

Predicted Primers

PCR Primer
(F):5'- AGACTCCTTAGTGACCTCCTG -3'
(R):5'- CAAACTGCCCTTGTTTGCCG -3'

Sequencing Primer
(F):5'- AGTGACCTCCTGGATGCTCTG -3'
(R):5'- CGTAGGTAAGTTCCTGGAGC -3'

Posted On

2021-10-11