Mutagenetix > Incidental Mutation

Incidental Mutation 'R5616:Tsc22d2'

439523

Institutional Source

Beutler Lab

Gene Symbol

Tsc22d2

Ensembl Gene

ENSMUSG00000027806

Gene Name

TSC22 domain family, member 2

Synonyms

5530402M19Rik, 1810043J12Rik

MMRRC Submission

043159-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.890) question?

Stock #

R5616 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

58322136-58374204 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

G to T at 58324583 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

E9Q7M2

Predicted Effect

unknown
Transcript: ENSMUST00000099090
AA Change: V492L

SMART Domains

Protein: ENSMUSP00000096688
Gene: ENSMUSG00000027806
AA Change: V492L

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

unknown
Transcript: ENSMUST00000199164
AA Change: V492L

SMART Domains

Protein: ENSMUSP00000143364
Gene: ENSMUSG00000027806
AA Change: V492L

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: 99.4%
3x: 98.7%
10x: 97.4%
20x: 95.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd3	A	T	3: 121,566,009 (GRCm39)	D443E	probably benign	Het
Arhgef5	A	G	6: 43,252,874 (GRCm39)	D1037G	probably benign	Het
B3glct	T	A	5: 149,653,399 (GRCm39)	L148*	probably null	Het
Cacna1e	G	A	1: 154,317,940 (GRCm39)	P1481S	probably damaging	Het
Cacna1h	C	A	17: 25,596,641 (GRCm39)	R117L	probably damaging	Het
Cct6b	A	T	11: 82,632,175 (GRCm39)	V271E	probably damaging	Het
Cenpf	A	G	1: 189,389,483 (GRCm39)	S1450P	probably damaging	Het
Cul1	G	A	6: 47,500,722 (GRCm39)	R707H	probably damaging	Het
Dcakd	A	G	11: 102,885,831 (GRCm39)	L191P	possibly damaging	Het
Dhx32	T	C	7: 133,322,957 (GRCm39)	*612W	probably null	Het
Disp1	T	A	1: 182,869,913 (GRCm39)	T836S	probably benign	Het
Dppa4	T	A	16: 48,111,393 (GRCm39)	V126D	probably damaging	Het
Fam98b	A	G	2: 117,098,267 (GRCm39)	T246A	possibly damaging	Het
Fkbp4	A	T	6: 128,410,517 (GRCm39)	V273E	probably damaging	Het
Gpr31b	A	G	17: 13,270,831 (GRCm39)	Y113H	probably damaging	Het
Gpr33	T	C	12: 52,070,377 (GRCm39)	I221V	probably damaging	Het
Klhl1	A	G	14: 96,755,729 (GRCm39)	F9L	probably benign	Het
Larp4b	T	A	13: 9,208,695 (GRCm39)	N449K	probably damaging	Het
Loxhd1	T	C	18: 77,492,647 (GRCm39)	S1363P	probably damaging	Het
Lrrc8a	T	C	2: 30,145,366 (GRCm39)	V60A	probably benign	Het
Matn3	A	G	12: 8,998,195 (GRCm39)	H51R	probably benign	Het
Mplkipl1	C	T	19: 61,164,364 (GRCm39)	G24R	unknown	Het
Mtrf1	T	C	14: 79,638,885 (GRCm39)	C6R	possibly damaging	Het
Myh6	T	C	14: 55,194,038 (GRCm39)	S784G	probably benign	Het
Nfkb2	G	T	19: 46,296,006 (GRCm39)	E170D	probably benign	Het
Nipal3	T	C	4: 135,179,715 (GRCm39)	Y401C	probably benign	Het
Pcdhb20	A	G	18: 37,637,585 (GRCm39)	E37G	probably damaging	Het
Pelp1	G	A	11: 70,285,688 (GRCm39)	P727S	possibly damaging	Het
Prkca	T	C	11: 107,869,169 (GRCm39)	D472G	possibly damaging	Het
Ptprg	A	G	14: 12,122,120 (GRCm38)	H328R	probably benign	Het
Rtl1	C	T	12: 109,559,173 (GRCm39)	E889K	unknown	Het
Rubcn	T	C	16: 32,647,293 (GRCm39)	D715G	possibly damaging	Het
Snurf	C	T	7: 59,649,133 (GRCm39)	E15K	possibly damaging	Het
Sptbn5	G	A	2: 119,876,965 (GRCm39)		probably benign	Het
Srp72	T	G	5: 77,135,781 (GRCm39)	L237R	probably damaging	Het
Syne3	T	C	12: 104,921,937 (GRCm39)	E406G	probably damaging	Het
Tgm2	A	G	2: 157,970,640 (GRCm39)	S340P	probably damaging	Het
Trim41	GCCTAGGCGCCCA	G	11: 48,698,192 (GRCm39)		probably benign	Het
Tsc22d1	T	C	14: 76,653,657 (GRCm39)		probably benign	Het
Vmn1r42	T	C	6: 89,822,084 (GRCm39)	I162V	possibly damaging	Het
Vmn2r59	A	G	7: 41,708,191 (GRCm39)		probably null	Het
Wnt3	T	C	11: 103,703,596 (GRCm39)		probably null	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
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'- ATACCACCCGGGCATTTGTTG -3'
(R):5'- TGAACCAACTTGCTGGATGAC -3'

Sequencing Primer
(F):5'- ATCCGGCCAGAGTGAGTAC -3'
(R):5'- AACTTGCTGGATGACGCTGC -3'

Posted On

2016-11-08