Mutagenetix > Incidental Mutation

Incidental Mutation 'R8241:Themis3'

637579

Institutional Source

Beutler Lab

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 #

R8241 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

66861500-66901616 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 66866962 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 93 (T93A)

Ref Sequence

ENSEMBL: ENSMUSP00000024914 (fasta)

Gene Model

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

AlphaFold

Q9CU24

Predicted Effect

probably benign
Transcript: ENSMUST00000024914
AA Change: T93A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000024914
Gene: ENSMUSG00000024105
AA Change: T93A

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: 99.8%
3x: 99.7%
10x: 99.1%
20x: 98.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	C	11: 110,079,456 (GRCm39)	R1233G	probably null	Het
Acacb	A	T	5: 114,333,297 (GRCm39)	I474F	possibly damaging	Het
Adora1	A	T	1: 134,131,062 (GRCm39)	V203D	probably damaging	Het
Aff4	A	G	11: 53,290,998 (GRCm39)	S653G	probably benign	Het
Agtr1a	T	C	13: 30,565,082 (GRCm39)	V49A	probably damaging	Het
Ahnak	T	C	19: 8,984,659 (GRCm39)	V1981A	probably benign	Het
Arhgap5	T	G	12: 52,565,098 (GRCm39)	Y690D	probably benign	Het
Bbs9	A	G	9: 22,590,214 (GRCm39)	I651V	probably benign	Het
Brms1	C	T	19: 5,096,007 (GRCm39)	A27V	probably benign	Het
Camta1	A	G	4: 151,168,282 (GRCm39)	V256A	probably benign	Het
Capg	G	T	6: 72,533,236 (GRCm39)		probably null	Het
Chpt1	T	C	10: 88,288,953 (GRCm39)	K154E		Het
Cyp1b1	T	C	17: 80,021,223 (GRCm39)	E173G	probably damaging	Het
Fan1	T	A	7: 64,022,234 (GRCm39)	N340Y	probably damaging	Het
Fbxw27	T	G	9: 109,602,283 (GRCm39)	N230T	possibly damaging	Het
Fer1l4	T	C	2: 155,891,585 (GRCm39)	T126A	probably benign	Het
Fut10	C	A	8: 31,750,034 (GRCm39)	S440*	probably null	Het
Gbf1	T	C	19: 46,234,576 (GRCm39)	V71A	probably damaging	Het
Gpatch8	T	C	11: 102,378,347 (GRCm39)	E201G	unknown	Het
Hic2	A	G	16: 17,076,950 (GRCm39)	Y593C	probably damaging	Het
Hlcs	A	T	16: 94,068,677 (GRCm39)	V181E	probably damaging	Het
Itpr2	A	T	6: 146,320,013 (GRCm39)	I176N	possibly damaging	Het
Kcna2	G	T	3: 107,012,338 (GRCm39)	K306N	probably damaging	Het
Kcnb1	A	G	2: 166,948,117 (GRCm39)	Y244H	probably damaging	Het
Klhl8	C	T	5: 104,015,392 (GRCm39)	V511I	probably damaging	Het
Mapk14	T	A	17: 28,934,374 (GRCm39)	D88E	possibly damaging	Het
Marchf10	C	A	11: 105,280,741 (GRCm39)	A515S	probably benign	Het
Mrpl1	T	A	5: 96,386,733 (GRCm39)	L241I	probably damaging	Het
Mybpc1	A	T	10: 88,372,286 (GRCm39)	N781K	probably benign	Het
Nfkb2	T	A	19: 46,296,054 (GRCm39)	D186E	probably benign	Het
Or3a1b	G	A	11: 74,013,035 (GRCm39)	V307I	probably benign	Het
Plcl1	A	G	1: 55,734,976 (GRCm39)	I106V	probably benign	Het
Ppp4r2	A	G	6: 100,842,044 (GRCm39)	I168M	probably damaging	Het
Prpf4b	A	T	13: 35,079,974 (GRCm39)	K779N	probably damaging	Het
Qrich1	T	C	9: 108,433,760 (GRCm39)		probably null	Het
Rgs12	T	C	5: 35,123,117 (GRCm39)	F300S	probably damaging	Het
Sart3	T	A	5: 113,884,029 (GRCm39)	K661M	probably benign	Het
Scyl2	T	C	10: 89,489,971 (GRCm39)	I464V	possibly damaging	Het
Sema5a	A	G	15: 32,575,064 (GRCm39)	T391A	probably benign	Het
Sh3bgr	A	G	16: 96,025,070 (GRCm39)	T183A	unknown	Het
Sh3rf3	C	T	10: 58,940,242 (GRCm39)	P688S	probably benign	Het
Thsd7b	T	A	1: 130,117,688 (GRCm39)	S1402T	probably damaging	Het
Ubr1	A	T	2: 120,793,937 (GRCm39)	D82E	possibly damaging	Het
Vmn1r223	T	C	13: 23,433,982 (GRCm39)	F192S	probably benign	Het
Vmn2r98	A	G	17: 19,301,031 (GRCm39)	K678E	probably damaging	Het
Vps13d	G	T	4: 144,875,047 (GRCm39)	T1826N		Het
Vps41	A	G	13: 19,033,168 (GRCm39)	D633G	possibly damaging	Het
Wdr3	A	T	3: 100,057,259 (GRCm39)	I448N	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
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
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

Predicted Primers

PCR Primer
(F):5'- AGTAGAACCTGTCGTCCTGG -3'
(R):5'- GCTCTGTGTCCGTGGAATTC -3'

Sequencing Primer
(F):5'- GAACCTGTCGTCCTGGCACTC -3'
(R):5'- CCTGGTCTACAAAGTGAGTTCCAG -3'

Posted On

2020-07-13