Mutagenetix > Incidental Mutation

Incidental Mutation 'R1743:Tsc22d2'

200482

Institutional Source

Beutler Lab

Gene Symbol

Tsc22d2

Ensembl Gene

ENSMUSG00000027806

Gene Name

TSC22 domain family, member 2

Synonyms

5530402M19Rik, 1810043J12Rik

MMRRC Submission

039775-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.890) question?

Stock #

R1743 (G1)

Quality Score

217

Status

Not validated

Chromosome

Chromosomal Location

58322136-58374204 bp(+) (GRCm39)

Type of Mutation

frame shift

DNA Base Change (assembly)

TCAGTTAACACCTATGAACAGT to TCAGT at 58324960 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000143364 (fasta)

Gene Model

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

AlphaFold

E9Q7M2

Predicted Effect

probably null
Transcript: ENSMUST00000099090

SMART Domains

Protein: ENSMUSP00000096688
Gene: ENSMUSG00000027806

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 null
Transcript: ENSMUST00000196049

Predicted Effect

probably null
Transcript: ENSMUST00000199164

SMART Domains

Protein: ENSMUSP00000143364
Gene: ENSMUSG00000027806

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: 97.4%
3x: 96.8%
10x: 95.1%
20x: 91.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aff4	T	A	11: 53,259,522 (GRCm39)	M11K	possibly damaging	Het
Ank2	T	C	3: 126,722,324 (GRCm39)	D88G	probably damaging	Het
Arhgap32	A	G	9: 32,170,727 (GRCm39)	E1169G	probably benign	Het
Atp7b	A	T	8: 22,496,403 (GRCm39)	V865E	probably damaging	Het
Bcl2l13	T	A	6: 120,825,504 (GRCm39)	Y13*	probably null	Het
Birc6	A	G	17: 74,886,751 (GRCm39)	Q693R	possibly damaging	Het
Bub1	T	C	2: 127,655,770 (GRCm39)	D520G	probably damaging	Het
Ccdc15	A	T	9: 37,188,773 (GRCm39)	Y770*	probably null	Het
Cenpf	T	C	1: 189,386,460 (GRCm39)	E1940G	probably benign	Het
Cep295	C	T	9: 15,252,179 (GRCm39)	E397K	probably damaging	Het
Cmya5	A	G	13: 93,233,825 (GRCm39)	V421A	probably benign	Het
Cnnm1	A	T	19: 43,460,352 (GRCm39)	Y698F	possibly damaging	Het
Cnst	C	T	1: 179,437,957 (GRCm39)	T507I	probably benign	Het
Coq8a	T	C	1: 180,009,794 (GRCm39)	M4V	probably benign	Het
Csmd3	A	G	15: 48,485,485 (GRCm39)	L140P	probably damaging	Het
Cul2	A	T	18: 3,426,851 (GRCm39)	I431F	probably damaging	Het
Dnah8	G	T	17: 30,988,625 (GRCm39)	E3198D	probably benign	Het
Dnai3	C	A	3: 145,803,017 (GRCm39)	R58L	possibly damaging	Het
Epn2	T	A	11: 61,437,237 (GRCm39)	I112F	possibly damaging	Het
Ext2	T	C	2: 93,560,570 (GRCm39)	E532G	probably damaging	Het
Fndc3a	A	T	14: 72,889,521 (GRCm39)	V37E	probably damaging	Het
Gabbr2	A	G	4: 46,677,603 (GRCm39)	F759S	possibly damaging	Het
Ghr	G	A	15: 3,349,723 (GRCm39)	P485L	probably benign	Het
Glipr1l2	G	T	10: 111,928,470 (GRCm39)	V122L	probably benign	Het
Gm10608	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	9: 118,989,784 (GRCm39)		probably benign	Het
Gm6871	G	T	7: 41,195,876 (GRCm39)	T287K	probably damaging	Het
Gm7275	A	G	16: 47,894,120 (GRCm39)		noncoding transcript	Het
Hephl1	C	T	9: 15,001,364 (GRCm39)	V254I	probably damaging	Het
Hnf4a	C	A	2: 163,408,259 (GRCm39)	Q362K	possibly damaging	Het
Kcne3	C	T	7: 99,833,631 (GRCm39)	R83C	probably damaging	Het
Klb	C	A	5: 65,533,204 (GRCm39)	N504K	probably damaging	Het
Loxl2	T	A	14: 69,929,851 (GRCm39)	I743N	possibly damaging	Het
Lrrc9	A	T	12: 72,502,891 (GRCm39)	L287F	probably damaging	Het
Mcm3ap	C	T	10: 76,320,508 (GRCm39)	P822L	possibly damaging	Het
Nacc2	T	C	2: 25,950,155 (GRCm39)	N527S	probably benign	Het
Ncam1	G	T	9: 49,468,445 (GRCm39)	P338H	probably damaging	Het
Nfkbiz	G	T	16: 55,636,757 (GRCm39)	Q515K	possibly damaging	Het
Nipsnap2	T	C	5: 129,834,149 (GRCm39)	L263P	probably damaging	Het
Nlrp1a	A	T	11: 71,015,032 (GRCm39)	S73T	probably benign	Het
Nomo1	G	A	7: 45,719,461 (GRCm39)		probably null	Het
Nos3	G	A	5: 24,582,310 (GRCm39)	G594D	probably benign	Het
Oprm1	A	G	10: 6,780,105 (GRCm39)	I256V	probably damaging	Het
Or10ak16	A	G	4: 118,750,723 (GRCm39)	T148A	probably benign	Het
Or10n1	A	T	9: 39,524,916 (GRCm39)	T18S	possibly damaging	Het
Or2b2	A	G	13: 21,887,620 (GRCm39)	I150V	probably benign	Het
Oxct2a	A	T	4: 123,217,309 (GRCm39)	L24Q	possibly damaging	Het
Pcdhb14	T	G	18: 37,581,231 (GRCm39)	S112R	probably benign	Het
Polr2a	A	G	11: 69,630,329 (GRCm39)	I1246T	probably damaging	Het
Ppil4	A	T	10: 7,683,145 (GRCm39)	K327N	probably damaging	Het
Pramel30	T	C	4: 144,059,575 (GRCm39)	S429P	probably benign	Het
Pstpip1	T	C	9: 56,033,214 (GRCm39)	Y249H	probably damaging	Het
Qrsl1	A	T	10: 43,757,511 (GRCm39)	V369E	probably damaging	Het
Ranbp10	G	T	8: 106,506,610 (GRCm39)	P237T	probably damaging	Het
Rapgef6	A	G	11: 54,567,110 (GRCm39)	N1097S	probably damaging	Het
Repin1	T	A	6: 48,574,684 (GRCm39)	S538T	probably damaging	Het
Rims2	A	T	15: 39,543,046 (GRCm39)	M1151L	probably benign	Het
Rin3	T	A	12: 102,356,355 (GRCm39)	D965E	possibly damaging	Het
Sdc2	A	G	15: 33,028,224 (GRCm39)	D114G	probably benign	Het
Slc25a30	C	A	14: 76,012,523 (GRCm39)	A42S	probably benign	Het
Sphkap	G	A	1: 83,255,236 (GRCm39)	R838*	probably null	Het
Ssh2	T	A	11: 77,328,582 (GRCm39)	F383I	probably damaging	Het
St8sia1	A	T	6: 142,774,742 (GRCm39)	V279E	probably damaging	Het
Tacc2	C	A	7: 130,228,328 (GRCm39)	S1690*	probably null	Het
Taf1b	A	G	12: 24,597,177 (GRCm39)	D372G	possibly damaging	Het
Timm21	G	C	18: 84,967,387 (GRCm39)	L130V	probably damaging	Het
Tmem165	G	T	5: 76,355,673 (GRCm39)	G272C	probably damaging	Het
Tssk4	C	A	14: 55,888,488 (GRCm39)	A119D	probably damaging	Het
Usp9y	A	G	Y: 1,316,727 (GRCm39)	Y1941H	probably damaging	Het
Vmn2r42	A	T	7: 8,187,264 (GRCm39)	M786K	probably benign	Het
Wdfy3	G	T	5: 101,991,931 (GRCm39)	T3470K	probably benign	Het
Zc3h14	T	C	12: 98,745,448 (GRCm39)	V479A	probably benign	Het
Zfp821	G	A	8: 110,450,796 (GRCm39)	R263Q	probably damaging	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
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
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'- AGCCAGTTTCAGACTCAGACCCAG -3'
(R):5'- GGGGCAATACCAGCTCTCATCTTC -3'

Sequencing Primer
(F):5'- AGCCTTTAGTCGGGCAAG -3'
(R):5'- CAAAAATCCCGTGACTTTTGTC -3'

Posted On

2014-05-23