Mutagenetix > Incidental Mutation

Incidental Mutation 'R8268:Themis3'

639560

Institutional Source

Beutler Lab

Gene Symbol

Themis3

Ensembl Gene

ENSMUSG00000024105

Gene Name

thymocyte selection associated family member 3

Synonyms

9130404H23Rik

MMRRC Submission

067692-MU

Accession Numbers

Essential gene?

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

Stock #

R8268 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

66861500-66901616 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 66862786 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 391 (E391K)

Ref Sequence

ENSEMBL: ENSMUSP00000024914 (fasta)

Gene Model

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

AlphaFold

Q9CU24

Predicted Effect

probably benign
Transcript: ENSMUST00000024914
AA Change: E391K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000024914
Gene: ENSMUSG00000024105
AA Change: E391K

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

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

97% (37/38)

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd8	A	T	8: 71,909,961 (GRCm39)	C396S	probably benign	Het
Ccpg1	G	A	9: 72,913,001 (GRCm39)	R179H	probably damaging	Het
Ciapin1	A	G	8: 95,558,511 (GRCm39)	V67A	probably benign	Het
Col7a1	A	G	9: 108,802,057 (GRCm39)	R2018G	unknown	Het
Dnah11	A	T	12: 117,991,243 (GRCm39)	Y2374*	probably null	Het
Dnah7b	G	T	1: 46,395,736 (GRCm39)	M3879I	probably benign	Het
Epha8	G	T	4: 136,665,897 (GRCm39)	L420M	probably damaging	Het
Gm12258	A	C	11: 58,745,084 (GRCm39)		probably null	Het
Hpse	A	G	5: 100,846,907 (GRCm39)	L174S	probably damaging	Het
Hspa8	A	G	9: 40,714,448 (GRCm39)	K248R	probably damaging	Het
Kcnt2	A	C	1: 140,450,954 (GRCm39)	R744S	probably damaging	Het
Klhl32	G	A	4: 24,800,843 (GRCm39)		probably benign	Het
Mkrn3	A	G	7: 62,068,270 (GRCm39)	L507P	probably damaging	Het
Myom2	T	G	8: 15,179,157 (GRCm39)	F1330V	probably damaging	Het
Nr1d2	A	G	14: 18,216,659 (GRCm38)	S170P	probably damaging	Het
Nt5dc1	T	C	10: 34,186,407 (GRCm39)	D388G	probably damaging	Het
Or12e9	C	A	2: 87,202,332 (GRCm39)	A152E	probably damaging	Het
Or13a17	A	G	7: 140,271,430 (GRCm39)	D204G	probably damaging	Het
Or4a68	T	C	2: 89,269,780 (GRCm39)	N281S	probably damaging	Het
Or7a36	T	A	10: 78,819,831 (GRCm39)	V69E	probably damaging	Het
Pigg	T	A	5: 108,486,509 (GRCm39)	S721T	probably damaging	Het
Prr5	T	C	15: 84,587,192 (GRCm39)	L323P	probably benign	Het
Rapgef2	T	A	3: 78,993,263 (GRCm39)	I742L	probably benign	Het
Rxrb	A	G	17: 34,254,750 (GRCm39)	S302G	probably benign	Het
Setd5	T	G	6: 113,126,651 (GRCm39)		probably null	Het
Sh3bgr	A	G	16: 96,025,674 (GRCm39)	T187A	unknown	Het
Sh3pxd2a	C	T	19: 47,256,033 (GRCm39)	R923H	probably benign	Het
Slc26a10	A	G	10: 127,009,491 (GRCm39)		probably null	Het
Slc9a1	T	A	4: 133,097,934 (GRCm39)	V27E	probably benign	Het
Stard3nl	A	G	13: 19,560,629 (GRCm39)	S49P	probably damaging	Het
Stxbp2	G	A	8: 3,682,234 (GRCm39)	V17I		Het
Tia1	A	G	6: 86,404,996 (GRCm39)		probably benign	Het
Tmem167	T	C	13: 90,252,554 (GRCm39)	F70S	probably damaging	Het
Trpm6	C	A	19: 18,851,225 (GRCm39)	Q1729K	possibly damaging	Het
Tsc2	A	C	17: 24,818,984 (GRCm39)	L1285W	probably benign	Het
Uchl4	A	T	9: 64,142,791 (GRCm39)	I91F	probably damaging	Het
Wdfy3	C	T	5: 102,089,476 (GRCm39)	A573T	probably damaging	Het
Zc2hc1c	C	T	12: 85,336,595 (GRCm39)	S84F	probably benign	Het
Zfp143	A	G	7: 109,690,991 (GRCm39)	D515G	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
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

Predicted Primers

PCR Primer
(F):5'- CATATAGAGGGTCTACAGTCATGG -3'
(R):5'- TATCAGGGCCTGGTGCTTAG -3'

Sequencing Primer
(F):5'- ATCTGGGCTGGTCACTCTGAC -3'
(R):5'- CCTGGTGCTTAGGAGAGGTC -3'

Posted On

2020-07-28