Mutagenetix > Incidental Mutation

Incidental Mutation 'R8078:Tsc22d2'

629125

Institutional Source

Beutler Lab

Gene Symbol

Tsc22d2

Ensembl Gene

ENSMUSG00000027806

Gene Name

TSC22 domain family, member 2

Synonyms

5530402M19Rik, 1810043J12Rik

MMRRC Submission

067512-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.890) question?

Stock #

R8078 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

58322136-58374204 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 58323453 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 115 (A115E)

Ref Sequence

ENSEMBL: ENSMUSP00000143364 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099090] [ENSMUST00000199164]

AlphaFold

E9Q7M2

Predicted Effect

probably benign
Transcript: ENSMUST00000099090
AA Change: A115E

PolyPhen 2 Score 0.204 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000096688
Gene: ENSMUSG00000027806
AA Change: A115E

Domain	Start	End	E-Value	Type
low complexity region	95	145	N/A	INTRINSIC
low complexity region	204	223	N/A	INTRINSIC
low complexity region	253	286	N/A	INTRINSIC
low complexity region	300	322	N/A	INTRINSIC
low complexity region	377	400	N/A	INTRINSIC
low complexity region	426	439	N/A	INTRINSIC
low complexity region	441	457	N/A	INTRINSIC
low complexity region	459	521	N/A	INTRINSIC
low complexity region	531	541	N/A	INTRINSIC
Pfam:TSC22	683	739	4.1e-29	PFAM
low complexity region	746	764	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000196049

Predicted Effect

probably benign
Transcript: ENSMUST00000199164
AA Change: A115E

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000143364
Gene: ENSMUSG00000027806
AA Change: A115E

Domain	Start	End	E-Value	Type
low complexity region	95	145	N/A	INTRINSIC
low complexity region	204	223	N/A	INTRINSIC
low complexity region	253	286	N/A	INTRINSIC
low complexity region	300	322	N/A	INTRINSIC
low complexity region	377	400	N/A	INTRINSIC
low complexity region	426	439	N/A	INTRINSIC
low complexity region	441	457	N/A	INTRINSIC
low complexity region	459	521	N/A	INTRINSIC
low complexity region	531	541	N/A	INTRINSIC
Pfam:TSC22	659	718	1.2e-28	PFAM
low complexity region	722	740	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.8%
20x: 95.9%

Validation Efficiency

100% (63/63)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	G	A	11: 9,251,279 (GRCm39)	V2884I	probably benign	Het
Actl10	T	A	2: 154,394,490 (GRCm39)	N147K	probably benign	Het
Agpat2	C	A	2: 26,494,113 (GRCm39)	C37F	possibly damaging	Het
Alb	G	C	5: 90,615,214 (GRCm39)	R242P	probably damaging	Het
Ankrd26	T	A	6: 118,494,854 (GRCm39)		probably null	Het
Bcas1	T	C	2: 170,260,532 (GRCm39)	E49G	possibly damaging	Het
Birc2	A	G	9: 7,858,742 (GRCm39)	V331A	probably damaging	Het
Cadm3	A	G	1: 173,168,626 (GRCm39)	V314A	probably damaging	Het
Cep290	T	C	10: 100,408,749 (GRCm39)	V2407A	probably benign	Het
Chd5	C	A	4: 152,445,448 (GRCm39)	N446K	possibly damaging	Het
Clec9a	A	G	6: 129,385,996 (GRCm39)	S27G	probably benign	Het
Coro1c	G	T	5: 114,020,164 (GRCm39)	A17E	probably damaging	Het
Cspg4	T	C	9: 56,797,543 (GRCm39)	S1336P	possibly damaging	Het
Ddx55	G	A	5: 124,704,451 (GRCm39)	V353M	probably damaging	Het
Farp1	T	A	14: 121,513,712 (GRCm39)	S836T	probably benign	Het
Fbll1	G	T	11: 35,688,728 (GRCm39)	D178E	probably benign	Het
Flg2	T	G	3: 93,107,582 (GRCm39)	D22E	probably damaging	Het
Glis1	T	A	4: 107,425,099 (GRCm39)	C237S	probably damaging	Het
Gm5519	T	C	19: 33,800,357 (GRCm39)	V17A	possibly damaging	Het
Gucy2c	C	A	6: 136,674,919 (GRCm39)	G1055C	probably damaging	Het
Hspg2	T	C	4: 137,235,333 (GRCm39)	Y123H	probably damaging	Het
Idh1	T	A	1: 65,200,225 (GRCm39)	I380F	probably damaging	Het
Il23r	A	T	6: 67,400,577 (GRCm39)	N584K	probably damaging	Het
Irag1	T	C	7: 110,498,942 (GRCm39)	E363G	probably damaging	Het
Lama1	A	T	17: 68,098,289 (GRCm39)	T1829S		Het
Ldlrad1	G	A	4: 107,066,688 (GRCm39)	A8T	probably benign	Het
Luzp2	T	A	7: 54,702,510 (GRCm39)	Y24*	probably null	Het
Masp2	A	T	4: 148,698,235 (GRCm39)	T439S	probably benign	Het
Meioc	G	A	11: 102,559,226 (GRCm39)	W49*	probably null	Het
Mtor	T	G	4: 148,552,744 (GRCm39)	I749S	probably benign	Het
Myo16	T	A	8: 10,612,078 (GRCm39)	V1241D	unknown	Het
Ncam2	G	T	16: 81,240,136 (GRCm39)	R199L	possibly damaging	Het
Nyap2	A	G	1: 81,218,772 (GRCm39)	S265G	possibly damaging	Het
Or4f15	T	A	2: 111,813,615 (GRCm39)	D268V	probably damaging	Het
Parp8	A	T	13: 117,061,519 (GRCm39)	F175I	probably damaging	Het
Pcnx1	A	G	12: 82,022,054 (GRCm39)	T823A		Het
Phc2	T	A	4: 128,604,855 (GRCm39)	I197N	probably damaging	Het
Plaat3	C	T	19: 7,556,526 (GRCm39)	T109I	probably benign	Het
Pot1a	T	C	6: 25,750,107 (GRCm39)	I518M	probably benign	Het
Prg2	T	A	2: 84,812,604 (GRCm39)	C105S	probably benign	Het
Rab39	A	G	9: 53,617,255 (GRCm39)	L54P	possibly damaging	Het
Rell1	T	A	5: 64,097,064 (GRCm39)		probably benign	Het
Repin1	G	T	6: 48,574,279 (GRCm39)	E403*	probably null	Het
Slc4a4	T	C	5: 89,327,566 (GRCm39)	Y668H	probably benign	Het
Sncg	C	A	14: 34,096,727 (GRCm39)		probably benign	Het
Spata31d1b	A	G	13: 59,863,263 (GRCm39)	D137G	probably damaging	Het
Tas1r1	C	T	4: 152,112,803 (GRCm39)	G750D	probably damaging	Het
Tcea3	A	T	4: 135,981,825 (GRCm39)	D61V	probably damaging	Het
Tfap2c	T	A	2: 172,393,392 (GRCm39)	H102Q	probably damaging	Het
Tmem150a	T	A	6: 72,335,306 (GRCm39)	L95H	probably damaging	Het
Tnfrsf11a	A	T	1: 105,745,409 (GRCm39)	D149V	probably damaging	Het
Vmn2r101	T	A	17: 19,810,507 (GRCm39)	F431Y	probably benign	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Vmn2r85	C	A	10: 130,265,364 (GRCm39)	E40*	probably null	Het
Zfp606	G	A	7: 12,214,942 (GRCm39)	A57T	possibly damaging	Het
Zfp760	T	C	17: 21,942,436 (GRCm39)	V537A	probably benign	Het

Other mutations in Tsc22d2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01338:Tsc22d2	APN	3	58,324,836 (GRCm39)	unclassified	probably benign
IGL01389:Tsc22d2	APN	3	58,323,659 (GRCm39)	missense	probably damaging	0.98
IGL01407:Tsc22d2	APN	3	58,323,924 (GRCm39)	missense	probably damaging	0.99
IGL02193:Tsc22d2	APN	3	58,367,628 (GRCm39)	utr 3 prime	probably benign
IGL02641:Tsc22d2	APN	3	58,323,576 (GRCm39)	missense	probably damaging	1.00
IGL02956:Tsc22d2	APN	3	58,324,967 (GRCm39)	missense	unknown
R0141:Tsc22d2	UTSW	3	58,324,577 (GRCm39)	unclassified	probably benign
R0421:Tsc22d2	UTSW	3	58,324,749 (GRCm39)	unclassified	probably benign
R1743:Tsc22d2	UTSW	3	58,324,960 (GRCm39)	frame shift	probably null
R2214:Tsc22d2	UTSW	3	58,323,627 (GRCm39)	missense	probably damaging	1.00
R5155:Tsc22d2	UTSW	3	58,324,737 (GRCm39)	unclassified	probably benign
R5242:Tsc22d2	UTSW	3	58,323,360 (GRCm39)	missense	possibly damaging	0.86
R5616:Tsc22d2	UTSW	3	58,324,583 (GRCm39)	unclassified	probably benign
R6119:Tsc22d2	UTSW	3	58,367,674 (GRCm39)	utr 3 prime	probably benign
R6454:Tsc22d2	UTSW	3	58,323,261 (GRCm39)	missense	possibly damaging	0.92
R6855:Tsc22d2	UTSW	3	58,324,235 (GRCm39)	missense	probably damaging	0.99
R6885:Tsc22d2	UTSW	3	58,323,629 (GRCm39)	missense	probably damaging	1.00
R7148:Tsc22d2	UTSW	3	58,324,429 (GRCm39)	nonsense	probably null
R7243:Tsc22d2	UTSW	3	58,323,884 (GRCm39)	missense	unknown
R8309:Tsc22d2	UTSW	3	58,324,544 (GRCm39)	missense	unknown
R8789:Tsc22d2	UTSW	3	58,367,438 (GRCm39)	nonsense	probably null
R9036:Tsc22d2	UTSW	3	58,323,497 (GRCm39)	missense	probably benign	0.19
R9408:Tsc22d2	UTSW	3	58,367,453 (GRCm39)	missense	unknown
Z1176:Tsc22d2	UTSW	3	58,324,445 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- ACGTGTCCTCCGAGATCTTC -3'
(R):5'- GAATCCCGCTCGTAGTATTCCATAC -3'

Sequencing Primer
(F):5'- GAGATCTTCGACGTTTCCCGG -3'
(R):5'- GTAGTATTCCATACACGTCCATCGG -3'

Posted On

2020-06-30