Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01389:Tsc22d2'

79142

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tsc22d2

Ensembl Gene

ENSMUSG00000027806

Gene Name

TSC22 domain family, member 2

Synonyms

5530402M19Rik, 1810043J12Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.890) question?

Stock #

IGL01389

Quality Score

Status

Chromosome

Chromosomal Location

58322136-58374204 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 58323659 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 184 (T184A)

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: T184A

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000096688
Gene: ENSMUSG00000027806
AA Change: T184A

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: T184A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000143364
Gene: ENSMUSG00000027806
AA Change: T184A

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ccdc163	T	C	4: 116,568,503 (GRCm39)		probably benign	Het
Ceacam5	T	G	7: 17,481,300 (GRCm39)	V349G	probably damaging	Het
Ces2e	T	A	8: 105,656,197 (GRCm39)	D169E	probably benign	Het
Cfh	G	T	1: 140,082,377 (GRCm39)	T150K	probably benign	Het
Chrd	A	G	16: 20,559,975 (GRCm39)	M859V	possibly damaging	Het
Clca3a2	C	T	3: 144,783,629 (GRCm39)		probably null	Het
Crocc	T	C	4: 140,749,423 (GRCm39)	E1536G	probably damaging	Het
Dhx57	A	G	17: 80,588,652 (GRCm39)	V67A	probably benign	Het
Dock11	T	C	X: 35,256,701 (GRCm39)	V576A	probably benign	Het
Ighv1-85	A	G	12: 115,963,671 (GRCm39)	S110P	probably damaging	Het
Lyg1	G	A	1: 37,989,011 (GRCm39)	P70S	probably damaging	Het
Numbl	T	G	7: 26,980,472 (GRCm39)	F485V	possibly damaging	Het
Or4x6	A	T	2: 89,949,412 (GRCm39)	C177S	probably damaging	Het
Pclo	A	G	5: 14,764,535 (GRCm39)	E1051G	probably damaging	Het
Pdzd2	T	C	15: 12,374,712 (GRCm39)	S1808G	possibly damaging	Het
Rad51b	T	A	12: 79,349,327 (GRCm39)	H54Q	probably benign	Het
Rbbp7	T	C	X: 161,552,939 (GRCm39)		probably benign	Het
Rhbdl2	G	T	4: 123,723,450 (GRCm39)	V285L	probably benign	Het
Slc22a16	T	A	10: 40,461,131 (GRCm39)	M311K	probably damaging	Het
Slc22a21	A	G	11: 53,870,407 (GRCm39)	S93P	probably damaging	Het
Stt3b	T	C	9: 115,082,968 (GRCm39)	E488G	probably benign	Het
Tas2r108	A	G	6: 40,470,866 (GRCm39)	H114R	possibly damaging	Het
Tcaim	A	G	9: 122,643,627 (GRCm39)	E109G	possibly damaging	Het
Vmn2r2	G	T	3: 64,024,430 (GRCm39)	T717N	probably damaging	Het
Vps25	C	T	11: 101,144,861 (GRCm39)	Q20*	probably null	Het
Xiap	T	C	X: 41,183,429 (GRCm39)	F52L	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
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
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

Posted On

2013-11-05