Mutagenetix > Incidental Mutation

Incidental Mutation 'R6885:Tsc22d2'

536769

Institutional Source

Beutler Lab

Gene Symbol

Tsc22d2

Ensembl Gene

ENSMUSG00000027806

Gene Name

TSC22 domain family, member 2

Synonyms

5530402M19Rik, 1810043J12Rik

MMRRC Submission

045031-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.886) question?

Stock #

R6885 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

58322136-58374204 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 58323629 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 174 (Y174H)

Ref Sequence

ENSEMBL: ENSMUSP00000096688 (fasta)

Gene Model

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

AlphaFold

E9Q7M2

Predicted Effect

probably damaging
Transcript: ENSMUST00000099090
AA Change: Y174H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000096688
Gene: ENSMUSG00000027806
AA Change: Y174H

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: Y174H

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

SMART Domains

Protein: ENSMUSP00000143364
Gene: ENSMUSG00000027806
AA Change: Y174H

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: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

98% (58/59)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	A	G	7: 120,119,332 (GRCm39)	I1025M	probably benign	Het
Adamtsl5	T	A	10: 80,179,465 (GRCm39)	T164S	probably benign	Het
Ankar	C	T	1: 72,682,195 (GRCm39)	A1239T	unknown	Het
Aox4	A	T	1: 58,303,537 (GRCm39)	S1192C	probably damaging	Het
Atl2	T	C	17: 80,159,982 (GRCm39)	D68G	probably damaging	Het
Btnl4	T	C	17: 34,691,919 (GRCm39)	I228V	probably benign	Het
Catsper4	T	C	4: 133,942,460 (GRCm39)	T231A	probably benign	Het
Ccl12	A	T	11: 81,993,523 (GRCm39)	T54S	probably damaging	Het
Cntn1	T	C	15: 92,140,980 (GRCm39)		probably null	Het
Cog5	T	A	12: 31,944,198 (GRCm39)	D694E	probably damaging	Het
Crat	T	A	2: 30,305,208 (GRCm39)		probably benign	Het
Crot	T	C	5: 9,023,635 (GRCm39)	T418A	probably benign	Het
Cubn	G	A	2: 13,323,089 (GRCm39)	P2826L	probably damaging	Het
Dnah17	A	G	11: 117,981,598 (GRCm39)	F1698L	possibly damaging	Het
Dock8	T	A	19: 25,124,742 (GRCm39)	D1019E	possibly damaging	Het
Eps15	A	G	4: 109,166,361 (GRCm39)	N85D	probably damaging	Het
Exoc1	T	C	5: 76,706,889 (GRCm39)	S457P	probably damaging	Het
Ext1	G	A	15: 52,965,088 (GRCm39)	T426I	probably damaging	Het
Fat1	T	C	8: 45,405,489 (GRCm39)	S747P	possibly damaging	Het
Gas7	A	G	11: 67,574,213 (GRCm39)	D396G	probably damaging	Het
Gm5114	G	T	7: 39,057,580 (GRCm39)	R680S	probably benign	Het
Gpcpd1	A	T	2: 132,395,994 (GRCm39)	L94M	possibly damaging	Het
Gse1	C	A	8: 120,956,221 (GRCm39)		probably benign	Het
Hmgb1	T	C	5: 148,987,471 (GRCm39)	E26G	probably benign	Het
Incenp	C	T	19: 9,852,496 (GRCm39)	R714Q	unknown	Het
Krt73	T	C	15: 101,704,833 (GRCm39)	E351G	probably damaging	Het
Ksr1	A	G	11: 78,938,121 (GRCm39)		probably null	Het
Lpin2	T	G	17: 71,522,145 (GRCm39)	S60A	probably damaging	Het
Lrrc71	T	C	3: 87,649,927 (GRCm39)		probably null	Het
Mafb	A	G	2: 160,207,939 (GRCm39)	S220P	possibly damaging	Het
Maml3	TCTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGCTGTTGCTGCTGCTGC	TCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGCTGTTGCTGCTGCTGC	3: 51,605,000 (GRCm39)			Het
Mcmbp	T	C	7: 128,326,833 (GRCm39)		probably null	Het
Or1e30	A	T	11: 73,677,926 (GRCm39)	H54L	possibly damaging	Het
Or4s2	A	G	2: 88,473,941 (GRCm39)	T277A	probably damaging	Het
Paqr9	T	C	9: 95,442,096 (GRCm39)	S29P	probably benign	Het
Parm1	A	G	5: 91,742,069 (GRCm39)	T146A	possibly damaging	Het
Pgm2	T	A	5: 64,261,221 (GRCm39)	F238L	probably benign	Het
Pigv	A	T	4: 133,392,792 (GRCm39)	F126Y	probably damaging	Het
Pitx2	T	C	3: 129,012,257 (GRCm39)	M222T	probably damaging	Het
Plekhg6	T	C	6: 125,355,693 (GRCm39)	N37S	probably benign	Het
Pramel25	T	C	4: 143,520,103 (GRCm39)	C116R	probably damaging	Het
Psme4	A	T	11: 30,784,307 (GRCm39)	K961*	probably null	Het
Rbpj	T	C	5: 53,810,493 (GRCm39)	W392R	probably damaging	Het
Reg3a	T	A	6: 78,358,038 (GRCm39)		probably null	Het
Rfc3	C	T	5: 151,571,749 (GRCm39)	S85N	probably benign	Het
Rtn3	T	C	19: 7,435,696 (GRCm39)	T80A	probably benign	Het
Sash1	T	C	10: 8,659,985 (GRCm39)	T195A	probably damaging	Het
Ska1	A	G	18: 74,339,910 (GRCm39)	V12A	probably benign	Het
Slc25a1	A	G	16: 17,745,294 (GRCm39)	V80A	probably benign	Het
Slc26a5	A	T	5: 22,039,342 (GRCm39)	V217D	probably damaging	Het
Slc46a1	A	G	11: 78,357,805 (GRCm39)	D286G	probably benign	Het
Spata2l	A	T	8: 123,962,297 (GRCm39)	L88Q	probably damaging	Het
Sptbn1	T	G	11: 30,088,634 (GRCm39)	Q876P	probably benign	Het
Tenm2	T	A	11: 35,914,407 (GRCm39)	I2377F	possibly damaging	Het
Thbs4	A	T	13: 92,899,377 (GRCm39)	D539E	probably damaging	Het
Tmem154	T	A	3: 84,599,813 (GRCm39)	C162S	possibly damaging	Het
Tpcn1	T	C	5: 120,682,502 (GRCm39)	E502G	probably benign	Het
Traf7	G	A	17: 24,731,266 (GRCm39)	R257C	probably benign	Het
Usp8	A	G	2: 126,594,230 (GRCm39)	E802G	probably damaging	Het
Vmn1r5	T	C	6: 56,963,042 (GRCm39)	V239A	possibly damaging	Het
Vmn2r99	T	A	17: 19,600,457 (GRCm39)	S494T	possibly damaging	Het
Zbtb38	A	G	9: 96,568,517 (GRCm39)	F856L	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
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
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'- TCAACAATGTCGGGGATGCG -3'
(R):5'- GTCAAGGAGCTGTCAGTTCC -3'

Sequencing Primer
(F):5'- CGAACCTCATCCTGGATGG -3'
(R):5'- AGCTGTCAGTTCCCGAGTC -3'

Posted On

2018-10-18