Mutagenetix > Incidental Mutation

Incidental Mutation 'R5242:Tsc22d2'

400890

Institutional Source

Beutler Lab

Gene Symbol

Tsc22d2

Ensembl Gene

ENSMUSG00000027806

Gene Name

TSC22 domain family, member 2

Synonyms

5530402M19Rik, 1810043J12Rik

MMRRC Submission

042813-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.886) question?

Stock #

R5242 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

58322136-58374204 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 58323360 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 84 (V84E)

Ref Sequence

ENSEMBL: ENSMUSP00000143364 (fasta)

Gene Model

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

AlphaFold

E9Q7M2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000099090
AA Change: V84E

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000096688
Gene: ENSMUSG00000027806
AA Change: V84E

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

possibly damaging
Transcript: ENSMUST00000199164
AA Change: V84E

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000143364
Gene: ENSMUSG00000027806
AA Change: V84E

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199784

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl1	T	C	8: 84,657,711 (GRCm39)	V439A	possibly damaging	Het
Aldh6a1	A	G	12: 84,483,157 (GRCm39)	V390A	probably damaging	Het
Alox5	T	C	6: 116,437,927 (GRCm39)	D20G	probably damaging	Het
Atp2a2	A	T	5: 122,600,009 (GRCm39)	F487I	probably damaging	Het
BC048679	G	A	7: 81,145,091 (GRCm39)	T84M	probably damaging	Het
C2cd3	T	C	7: 100,039,373 (GRCm39)	S191P	probably benign	Het
Cdh6	A	G	15: 13,064,497 (GRCm39)	V131A	probably benign	Het
Chrna9	A	G	5: 66,134,423 (GRCm39)	T425A	probably benign	Het
Cplane2	T	C	4: 140,947,158 (GRCm39)	Y180H	probably damaging	Het
Ddx39a	A	G	8: 84,448,440 (GRCm39)	S231G	probably benign	Het
Diaph1	C	T	18: 37,984,688 (GRCm39)	G1176R	probably damaging	Het
Dnah10	G	T	5: 124,864,484 (GRCm39)	V2230L	probably benign	Het
Foxo1	T	C	3: 52,176,676 (GRCm39)	S152P	probably damaging	Het
Fras1	T	A	5: 96,805,109 (GRCm39)	D1250E	probably benign	Het
G6pd2	A	G	5: 61,966,785 (GRCm39)	I187V	probably benign	Het
Gm10113	T	C	13: 46,330,992 (GRCm39)		noncoding transcript	Het
Hoxd1	A	G	2: 74,593,792 (GRCm39)	D116G	probably damaging	Het
Igkv13-85	A	T	6: 68,907,544 (GRCm39)	I19K	probably benign	Het
Jag2	C	T	12: 112,880,486 (GRCm39)	V288M	probably damaging	Het
Ndrg2	A	G	14: 52,148,541 (GRCm39)		probably null	Het
Neurl3	G	A	1: 36,308,501 (GRCm39)	Q104*	probably null	Het
Nudt16l1	C	T	16: 4,757,485 (GRCm39)	R133W	probably damaging	Het
Oasl2	A	T	5: 115,043,122 (GRCm39)	Q298L	possibly damaging	Het
Or3a10	A	T	11: 73,935,848 (GRCm39)	M84K	possibly damaging	Het
Or51a25	C	T	7: 102,373,483 (GRCm39)	M71I	probably benign	Het
Pnma2	C	A	14: 67,153,746 (GRCm39)	Q57K	probably benign	Het
Pramel22	A	T	4: 143,382,181 (GRCm39)	L172I	probably benign	Het
Rps7	T	A	12: 28,681,136 (GRCm39)	E188D	probably benign	Het
Rrp1b	T	C	17: 32,270,677 (GRCm39)	V212A	possibly damaging	Het
Serpina9	C	A	12: 103,974,644 (GRCm39)	A170S	probably benign	Het
Shmt2	C	T	10: 127,354,789 (GRCm39)	V299I	probably benign	Het
Siae	C	T	9: 37,556,148 (GRCm39)	P435S	probably damaging	Het
Smarcal1	T	C	1: 72,630,242 (GRCm39)	S99P	probably benign	Het
Sntb1	C	G	15: 55,506,191 (GRCm39)	G461R	probably damaging	Het
Stimate	T	A	14: 30,547,793 (GRCm39)	F36I	probably damaging	Het
Tas2r124	T	C	6: 132,732,503 (GRCm39)	Y271H	possibly damaging	Het
Thsd7a	A	T	6: 12,327,582 (GRCm39)	I1430K	probably damaging	Het
Trmt9b	A	G	8: 36,979,084 (GRCm39)	K229R	probably benign	Het
Ube2s	C	T	7: 4,813,434 (GRCm39)	R110Q	possibly damaging	Het
Usp3	C	T	9: 66,434,432 (GRCm39)	C283Y	probably damaging	Het
Vmn2r81	T	A	10: 79,129,309 (GRCm39)	Y733*	probably null	Het
Wdr75	T	A	1: 45,856,487 (GRCm39)	C503*	probably null	Het
Zfp764	T	C	7: 127,004,541 (GRCm39)	M197V	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
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
R8078:Tsc22d2	UTSW	3	58,323,453 (GRCm39)	missense	probably benign	0.04
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'- TCCAGATCACCAGTGTCACC -3'
(R):5'- ACGCGAACTACAAGTGGCAG -3'

Sequencing Primer
(F):5'- AGTGTCACCACGGCTCAG -3'
(R):5'- CTACAAGTGGCAGGGGGCTG -3'

Posted On

2016-07-06