Mutagenetix > Incidental Mutation

Incidental Mutation 'R8789:Tsc22d2'

670801

Institutional Source

Beutler Lab

Gene Symbol

Tsc22d2

Ensembl Gene

ENSMUSG00000027806

Gene Name

TSC22 domain family, member 2

Synonyms

5530402M19Rik, 1810043J12Rik

MMRRC Submission

068608-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.890) question?

Stock #

R8789 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

58322136-58374204 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 58367438 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 663 (K663*)

Ref Sequence

ENSEMBL: ENSMUSP00000143364 (fasta)

Gene Model

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

AlphaFold

E9Q7M2

Predicted Effect

probably null
Transcript: ENSMUST00000099090
AA Change: K687*

SMART Domains

Protein: ENSMUSP00000096688
Gene: ENSMUSG00000027806
AA Change: K687*

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 null
Transcript: ENSMUST00000199164
AA Change: K663*

SMART Domains

Protein: ENSMUSP00000143364
Gene: ENSMUSG00000027806
AA Change: K663*

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

Meta Mutation Damage Score

0.9754

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.1%

Validation Efficiency

100% (45/45)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr5	C	T	2: 158,478,604 (GRCm39)	Q485*	probably null	Het
Arsa	C	T	15: 89,358,260 (GRCm39)	V350I	probably benign	Het
Bean1	CT	C	8: 104,908,664 (GRCm39)		probably null	Het
Cav2	T	C	6: 17,281,996 (GRCm39)	Y85H	probably damaging	Het
Ccdc93	A	G	1: 121,424,784 (GRCm39)	Q570R	probably damaging	Het
Cd72	A	G	4: 43,452,628 (GRCm39)	S122P	probably damaging	Het
Cep72	A	G	13: 74,186,367 (GRCm39)	M619T	possibly damaging	Het
Cers5	C	A	15: 99,637,551 (GRCm39)	V233F	possibly damaging	Het
Cntn5	A	G	9: 9,673,292 (GRCm39)	Y803H	probably damaging	Het
Crybg2	T	C	4: 133,801,554 (GRCm39)	S596P	probably benign	Het
Crybg3	T	C	16: 59,375,359 (GRCm39)	E251G	probably benign	Het
Csmd1	T	A	8: 17,266,722 (GRCm39)	N68I	probably damaging	Het
Ctr9	A	G	7: 110,642,933 (GRCm39)	N466S	possibly damaging	Het
Cyp2a4	T	A	7: 26,007,106 (GRCm39)	I71N	probably damaging	Het
Cyp2j11	C	T	4: 96,227,405 (GRCm39)	E204K	probably damaging	Het
Cyp4f39	T	C	17: 32,710,848 (GRCm39)	F469S	probably damaging	Het
Dmac2	T	A	7: 25,320,495 (GRCm39)	S65T	probably benign	Het
Duxf1	T	C	10: 58,059,426 (GRCm39)	N443D	unknown	Het
Elp3	G	A	14: 65,802,870 (GRCm39)	P243S	probably damaging	Het
Foxg1	T	A	12: 49,432,143 (GRCm39)	M292K	probably benign	Het
Fsip2	T	C	2: 82,815,822 (GRCm39)	S3852P	possibly damaging	Het
Gm10800	CAAGAAAACTGAAAATCAAAGAAAACTGAAAATCA	CAAGAAAACTGAAAATCA	2: 98,497,361 (GRCm39)		probably null	Het
Gm10912	A	C	2: 103,897,046 (GRCm39)	K62Q	possibly damaging	Het
Grk2	G	A	19: 4,338,511 (GRCm39)	R474C	probably damaging	Het
Hapstr1	T	C	16: 8,660,865 (GRCm39)	I114T	probably benign	Het
Hoxc12	T	C	15: 102,846,732 (GRCm39)	I208T	probably benign	Het
Htra3	G	A	5: 35,836,602 (GRCm39)	P30L	unknown	Het
Itgal	A	G	7: 126,904,421 (GRCm39)	H298R	probably benign	Het
Klrb1c	A	G	6: 128,761,148 (GRCm39)	S160P	probably benign	Het
Or13c7d	A	T	4: 43,770,793 (GRCm39)	C73S	probably damaging	Het
Or2z9	T	C	8: 72,854,135 (GRCm39)	F177S	probably damaging	Het
Phrf1	T	A	7: 140,836,581 (GRCm39)	D284E	unknown	Het
Pmp2	T	A	3: 10,247,564 (GRCm39)	I42F	probably damaging	Het
Psg26	T	C	7: 18,216,494 (GRCm39)	D115G	probably damaging	Het
Pym1	T	C	10: 128,601,073 (GRCm39)	V32A	probably benign	Het
R3hdm2	T	G	10: 127,293,521 (GRCm39)	S142A	probably damaging	Het
Recql4	T	C	15: 76,588,546 (GRCm39)	H1105R	probably benign	Het
Rimkla	T	C	4: 119,349,607 (GRCm39)	Y17C	probably damaging	Het
Rnf207	C	T	4: 152,391,924 (GRCm39)	R623K	probably benign	Het
Ros1	A	T	10: 51,999,328 (GRCm39)	N1207K	probably damaging	Het
Scg2	G	T	1: 79,413,500 (GRCm39)	Q368K	probably benign	Het
Serpinb6e	G	A	13: 34,017,213 (GRCm39)	T269I	probably damaging	Het
Ubr4	T	A	4: 139,137,494 (GRCm39)	N1026K	possibly damaging	Het
Ubtfl1	A	G	9: 18,321,609 (GRCm39)	D379G	unknown	Het
Vps13d	T	C	4: 144,795,743 (GRCm39)	M3700V		Het
Zscan4-ps3	T	C	7: 11,346,288 (GRCm39)	L136P	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
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
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'- TGGGAGCACTTTCTATACTAGCTG -3'
(R):5'- TTGAGAAGTGCTACCAGGATTG -3'

Sequencing Primer
(F):5'- AGGCCCTGTTAAGATATCGC -3'
(R):5'- GAGTTGGGACAACTGATCAT -3'

Posted On

2021-04-30