Mutagenetix > Incidental Mutations

Incidental Mutation 'R3772:Tsc22d4'

473707

Institutional Source

Beutler Lab

Gene Symbol

Tsc22d4

Ensembl Gene

ENSMUSG00000029723

Gene Name

TSC22 domain family, member 4

Synonyms

0610009M14Rik, 1700023B23Rik, Thg-1pit

MMRRC Submission

040748-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3772 (G1)

Quality Score

105

Status

Not validated

Chromosome

Chromosomal Location

137745730-137768450 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 137759233 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 374 (L374P)

Ref Sequence

ENSEMBL: ENSMUSP00000098107 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031738] [ENSMUST00000100539] [ENSMUST00000100540] [ENSMUST00000110983] [ENSMUST00000110985] [ENSMUST00000141733]

Predicted Effect

probably benign
Transcript: ENSMUST00000031738

SMART Domains

Protein: ENSMUSP00000031738
Gene: ENSMUSG00000029723

Domain	Start	End	E-Value	Type
low complexity region	89	104	N/A	INTRINSIC
low complexity region	167	184	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000100539
AA Change: L374P

PolyPhen 2 Score 0.864 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000098107
Gene: ENSMUSG00000029723
AA Change: L374P

Domain	Start	End	E-Value	Type
low complexity region	31	61	N/A	INTRINSIC
low complexity region	111	123	N/A	INTRINSIC
low complexity region	190	199	N/A	INTRINSIC
low complexity region	277	291	N/A	INTRINSIC
low complexity region	292	311	N/A	INTRINSIC
Pfam:TSC22	318	377	5.9e-32	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000100540

SMART Domains

Protein: ENSMUSP00000098108
Gene: ENSMUSG00000029723

Domain	Start	End	E-Value	Type
low complexity region	31	61	N/A	INTRINSIC
low complexity region	111	123	N/A	INTRINSIC
low complexity region	190	199	N/A	INTRINSIC
low complexity region	277	291	N/A	INTRINSIC
low complexity region	292	311	N/A	INTRINSIC
Pfam:DUF4703	319	509	4.5e-82	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000110983

SMART Domains

Protein: ENSMUSP00000106611
Gene: ENSMUSG00000029723

Domain	Start	End	E-Value	Type
Pfam:DUF4703	20	136	1.6e-32	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000110985
AA Change: L155P

PolyPhen 2 Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000106613
Gene: ENSMUSG00000029723
AA Change: L155P

Domain	Start	End	E-Value	Type
Pfam:TSC22	99	158	9.1e-33	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129399

Predicted Effect

possibly damaging
Transcript: ENSMUST00000141733
AA Change: L83P

PolyPhen 2 Score 0.674 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000120835
Gene: ENSMUSG00000029723
AA Change: L83P

Domain	Start	End	E-Value	Type
Pfam:TSC22	27	82	6.6e-32	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.5%

Validation Efficiency

100% (77/77)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] TSC22D4 is a member of the TSC22 domain family of leucine zipper transcriptional regulators (see TSC22D3; MIM 300506) (Kester et al., 1999 [PubMed 10488076]; Fiorenza et al., 2001 [PubMed 11707329]).[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810041L15Rik	A	T	15: 84,406,685	Y120*	probably null	Het
Abcb11	T	A	2: 69,329,376		probably benign	Het
Adgrl1	A	G	8: 83,923,004	N97S	possibly damaging	Het
Aldh1a2	A	G	9: 71,252,920	D76G	probably damaging	Het
Aldh3a1	A	G	11: 61,214,605	E179G	possibly damaging	Het
Ap1g1	A	G	8: 109,837,786	D324G	probably damaging	Het
Arfgap2	A	G	2: 91,265,366	T12A	probably benign	Het
Aurka	A	G	2: 172,366,960	L85P	probably benign	Het
Birc6	T	A	17: 74,618,429		probably benign	Het
Bmp7	A	T	2: 172,870,222	I403N	probably damaging	Het
Carns1	A	G	19: 4,170,916		probably benign	Het
Ccdc88c	G	A	12: 100,966,100		probably benign	Het
Ccl2	C	T	11: 82,036,958	A76V	probably damaging	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,712,500		probably benign	Het
Clstn2	A	G	9: 97,582,562	I180T	probably damaging	Het
Col24a1	T	C	3: 145,545,286	L1680P	probably damaging	Het
Col4a6	C	A	X: 141,172,200	G1416C	probably damaging	Het
Ctnna2	T	G	6: 76,973,769	N573T	probably damaging	Het
Cts8	G	A	13: 61,250,901		probably benign	Het
Cxcl17	A	G	7: 25,400,329		probably benign	Het
Defb18	T	C	1: 18,236,621	H37R	possibly damaging	Het
Dis3l2	T	C	1: 86,854,408	I229T	probably benign	Het
Dysf	G	A	6: 84,152,351	S1474N	possibly damaging	Het
Elf1	T	C	14: 79,567,210	V105A	possibly damaging	Het
F13a1	T	C	13: 36,898,134	K532R	probably benign	Het
Fmn1	T	G	2: 113,582,118	S996A	probably damaging	Het
Focad	A	C	4: 88,336,161		probably benign	Het
Frmd4a	A	T	2: 4,590,622	E109D	probably damaging	Het
Frrs1	T	G	3: 116,878,387	S45A	possibly damaging	Het
Gm5422	T	A	10: 31,248,514		noncoding transcript	Het
Gm5866	T	C	5: 52,582,746		noncoding transcript	Het
Hmcn2	C	T	2: 31,360,896	T790M	probably damaging	Het
Iglon5	A	T	7: 43,480,613	Y42*	probably null	Het
Khdrbs2	C	T	1: 32,244,076	Q90*	probably null	Het
Krt74	T	C	15: 101,762,195		noncoding transcript	Het
Lamc2	T	A	1: 153,124,251	M1121L	probably benign	Het
Lrig1	A	G	6: 94,605,817	L1073P	probably benign	Het
Lrp5	G	A	19: 3,612,330	R173C	probably damaging	Het
Man2c1	C	A	9: 57,140,377		probably benign	Het
Megf10	G	A	18: 57,283,862	D768N	probably benign	Het
Mycbp2	T	C	14: 103,133,788	N4108S	possibly damaging	Het
Nid1	A	G	13: 13,476,418		probably benign	Het
Nnt	A	G	13: 119,396,952	V59A	probably damaging	Het
Nsd1	G	A	13: 55,246,673	V696I	probably benign	Het
Olfr99	T	C	17: 37,279,854	T189A	probably benign	Het
Pag1	G	A	3: 9,699,628	T155M	probably benign	Het
Pgam5	T	C	5: 110,265,593	H176R	probably damaging	Het
Pid1	T	C	1: 84,038,197	D149G	probably damaging	Het
Pkp3	G	A	7: 141,082,346	M1I	probably null	Het
Pld2	C	T	11: 70,544,123		probably benign	Het
Ptpro	T	A	6: 137,443,594	V1007D	probably damaging	Het
Ptprs	T	C	17: 56,428,978	T152A	possibly damaging	Het
Rab9b	T	A	X: 136,861,449	E67D	probably damaging	Het
Rin2	C	T	2: 145,860,446	T354I	probably benign	Het
Rnf214	T	C	9: 45,866,634	M625V	possibly damaging	Het
Rwdd2a	A	C	9: 86,574,161	N130T	possibly damaging	Het
Scn9a	T	C	2: 66,483,648	N1909D	probably benign	Het
Sept10	A	T	10: 59,176,887	M303K	probably damaging	Het
Sez6l2	A	G	7: 126,959,203	E339G	probably damaging	Het
Sf3b1	C	A	1: 54,999,991		probably benign	Het
Ska3	C	T	14: 57,810,077	V334I	probably benign	Het
Srebf2	A	G	15: 82,182,108	K579R	probably benign	Het
St18	A	T	1: 6,844,329	K799I	probably damaging	Het
Strada	C	T	11: 106,164,822	R333Q	probably damaging	Het
Stradb	A	T	1: 58,985,385	I64L	probably benign	Het
Sun1	A	G	5: 139,238,820		probably benign	Het
Tecta	T	C	9: 42,330,996	T2094A	probably damaging	Het
Tenm4	A	T	7: 96,694,880	R227W	probably damaging	Het
Tnk2	A	G	16: 32,679,822	D651G	probably damaging	Het
Trim43c	A	T	9: 88,847,757	D417V	probably damaging	Het
Ttn	T	C	2: 76,771,367	T16872A	probably benign	Het
Ubr4	T	C	4: 139,452,700	V262A	possibly damaging	Het
Vmn2r60	A	T	7: 42,116,556	N29I	probably benign	Het
Xrn2	T	C	2: 147,061,287	V765A	probably benign	Het
Zbed4	C	T	15: 88,780,787	P353S	probably benign	Het
Zfp251	A	G	15: 76,853,636	I414T	possibly damaging	Het
Zfp426	A	T	9: 20,473,117		probably null	Het
Zwilch	A	T	9: 64,156,034	F286I	probably benign	Het

Other mutations in Tsc22d4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
mastodon	UTSW	5	137751370	critical splice donor site	probably null
Pachyderm	UTSW	5	137751365	missense	probably null	0.98
BB001:Tsc22d4	UTSW	5	137768011	missense	unknown
BB002:Tsc22d4	UTSW	5	137751365	missense	probably null	0.98
BB011:Tsc22d4	UTSW	5	137768011	missense	unknown
BB012:Tsc22d4	UTSW	5	137751365	missense	probably null	0.98
R0103:Tsc22d4	UTSW	5	137747116	start codon destroyed	possibly damaging	0.79
R0570:Tsc22d4	UTSW	5	137762419	missense	possibly damaging	0.85
R0600:Tsc22d4	UTSW	5	137762655	missense	probably damaging	0.97
R0658:Tsc22d4	UTSW	5	137768021	missense	probably benign
R2073:Tsc22d4	UTSW	5	137762487	missense	possibly damaging	0.45
R4012:Tsc22d4	UTSW	5	137758328	missense	probably benign	0.02
R4232:Tsc22d4	UTSW	5	137751370	critical splice donor site	probably null
R5378:Tsc22d4	UTSW	5	137762464	missense	probably damaging	0.99
R5394:Tsc22d4	UTSW	5	137758774	intron	probably benign
R5677:Tsc22d4	UTSW	5	137747142	missense	probably damaging	1.00
R5765:Tsc22d4	UTSW	5	137758543	missense	probably benign	0.04
R6184:Tsc22d4	UTSW	5	137759089	missense	probably damaging	0.99
R6263:Tsc22d4	UTSW	5	137768179	missense	possibly damaging	0.85
R6700:Tsc22d4	UTSW	5	137758523	missense	probably benign	0.04
R6821:Tsc22d4	UTSW	5	137762644	missense	possibly damaging	0.92
R6877:Tsc22d4	UTSW	5	137762593	missense	possibly damaging	0.85
R7354:Tsc22d4	UTSW	5	137768109	missense	probably benign	0.12
R7376:Tsc22d4	UTSW	5	137758152	missense	unknown
R7499:Tsc22d4	UTSW	5	137747723	missense	probably benign	0.19
R7731:Tsc22d4	UTSW	5	137758694	missense	possibly damaging	0.93
R7924:Tsc22d4	UTSW	5	137768011	missense	unknown
R7925:Tsc22d4	UTSW	5	137751365	missense	probably null	0.98
R8556:Tsc22d4	UTSW	5	137747587	missense	probably damaging	1.00

Predicted Primers

Posted On

2017-04-14