Mutagenetix > Incidental Mutations

Incidental Mutation 'R5394:Tsc22d4'

426029

Institutional Source

Beutler Lab

Gene Symbol

Tsc22d4

Ensembl Gene

ENSMUSG00000029723

Gene Name

TSC22 domain family, member 4

Synonyms

0610009M14Rik, 1700023B23Rik, Thg-1pit

MMRRC Submission

042966-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5394 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

137745730-137768450 bp(+) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

T to A at 137758774 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000120835 (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

probably benign
Transcript: ENSMUST00000100539

SMART Domains

Protein: ENSMUSP00000098107
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: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

probably benign
Transcript: ENSMUST00000110985

SMART Domains

Protein: ENSMUSP00000106613
Gene: ENSMUSG00000029723

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129399

Predicted Effect

probably benign
Transcript: ENSMUST00000141733

SMART Domains

Protein: ENSMUSP00000120835
Gene: ENSMUSG00000029723

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

97% (96/99)

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310050C09Rik	T	C	3: 92,868,698	E226G	probably damaging	Het
4930503B20Rik	A	G	3: 146,650,608	F182L	probably damaging	Het
4930503B20Rik	T	C	3: 146,650,958	Y65C	probably damaging	Het
4930590J08Rik	A	G	6: 91,919,193	T341A	probably benign	Het
4932438A13Rik	G	T	3: 36,917,668	V517F	probably damaging	Het
Adamts13	G	A	2: 26,986,558	V495I	probably benign	Het
Alms1	C	A	6: 85,623,088	T2101K	probably benign	Het
Als2	T	C	1: 59,174,946	D1361G	probably benign	Het
Ankdd1a	A	T	9: 65,505,214	M275K	probably benign	Het
Arfip2	A	T	7: 105,636,976	Y161*	probably null	Het
Asap3	A	T	4: 136,241,259	E707D	probably benign	Het
Atm	C	T	9: 53,507,777		probably null	Het
Atp9b	A	T	18: 80,776,837	S577R	probably benign	Het
Camk1d	G	C	2: 5,303,366	D274E	probably benign	Het
Cebpz	C	T	17: 78,922,205	D907N	probably benign	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 104,309,470		probably benign	Het
Cnst	T	A	1: 179,601,736		probably benign	Het
Cog2	G	T	8: 124,532,529	V196L	probably benign	Het
Col11a1	A	G	3: 114,194,184		probably null	Het
Cops6	T	A	5: 138,163,500		probably null	Het
Cspg4	A	G	9: 56,890,200	E1316G	probably damaging	Het
Cwc22	G	C	2: 77,929,339	D122E	possibly damaging	Het
Dapk2	G	A	9: 66,268,718	V300M	probably benign	Het
Dcp1b	C	A	6: 119,175,367	D25E	probably damaging	Het
Ddx10	A	T	9: 53,233,857	Y273*	probably null	Het
Dhx58	T	C	11: 100,698,208	E504G	probably benign	Het
Dync2h1	C	T	9: 7,120,899	W2129*	probably null	Het
Egr4	A	T	6: 85,512,460	L206Q	probably damaging	Het
Eif4g3	A	G	4: 138,103,398		probably null	Het
Fbxo46	A	G	7: 19,136,616	N387D	possibly damaging	Het
Fpr-rs3	T	G	17: 20,624,208	M224L	probably benign	Het
Gm14325	G	A	2: 177,832,984	H102Y	possibly damaging	Het
Gxylt2	A	G	6: 100,705,114	K91E	probably benign	Het
H2afy2	G	A	10: 61,751,687	T156M	possibly damaging	Het
Hecw1	A	T	13: 14,322,589	V278E	probably damaging	Het
Hydin	A	G	8: 110,539,842		probably null	Het
Iars	T	C	13: 49,722,165	L776P	probably damaging	Het
Kcnh2	T	A	5: 24,332,041	T182S	probably benign	Het
Lats2	T	G	14: 57,691,353	S1022R	probably benign	Het
Lef1	C	T	3: 131,194,659	P264S	probably damaging	Het
Lyrm1	A	C	7: 119,914,248	I79L	possibly damaging	Het
Man2b2	T	G	5: 36,814,518	Q618P	probably benign	Het
Mei1	T	C	15: 82,092,756	V180A	possibly damaging	Het
Mmp15	A	T	8: 95,366,404	N137I	probably damaging	Het
Mms22l	A	G	4: 24,517,115	D222G	possibly damaging	Het
Mut	T	A	17: 40,947,184	S414T	probably benign	Het
Myo18a	T	C	11: 77,853,350	M1846T	probably benign	Het
Neo1	A	T	9: 58,990,234	N146K	probably benign	Het
Nos3	A	G	5: 24,383,890	T1174A	probably benign	Het
Olfr1233	A	T	2: 89,339,462	I280N	probably damaging	Het
Olfr417	T	C	1: 174,369,270	Y118H	probably damaging	Het
Olfr566	A	T	7: 102,856,479	S268T	probably damaging	Het
Olfr960	A	T	9: 39,623,134	T4S	probably benign	Het
Pax8	A	T	2: 24,442,910		probably benign	Het
Pde5a	G	A	3: 122,818,009	C532Y	probably damaging	Het
Pigq	T	C	17: 25,931,472	D442G	possibly damaging	Het
Pik3c2g	T	C	6: 139,720,082	V43A	probably benign	Het
Pik3cb	T	C	9: 99,088,663	N325S	probably benign	Het
Pot1b	T	C	17: 55,700,063	K18R	probably benign	Het
Ppp1r42	A	T	1: 9,999,405	L144Q	probably damaging	Het
Prdm13	T	A	4: 21,679,455	Q345L	unknown	Het
Pyroxd2	T	A	19: 42,740,459	K167N	probably benign	Het
Rnf123	T	C	9: 108,070,731	Y131C	probably damaging	Het
Rnf25	T	C	1: 74,595,252	D204G	probably damaging	Het
Rpf2	G	A	10: 40,233,185	T60I	possibly damaging	Het
Scaf11	T	C	15: 96,419,458	N742D	probably benign	Het
Shank1	G	A	7: 44,352,651	D1257N	possibly damaging	Het
Shc2	A	G	10: 79,630,099	V168A	probably damaging	Het
Slc16a4	G	A	3: 107,292,442	V2M	probably benign	Het
Slc24a3	T	C	2: 145,613,574	V461A	probably benign	Het
Slc45a2	C	T	15: 11,027,785	T480I	probably damaging	Het
Slc4a4	T	A	5: 89,197,764		probably null	Het
Snx30	T	A	4: 59,879,329	D189E	probably benign	Het
Sspo	A	G	6: 48,495,260	Q4653R	possibly damaging	Het
Tpte	G	T	8: 22,327,790	R264I	probably damaging	Het
Ubn1	T	C	16: 5,074,369	L585P	possibly damaging	Het
Usp24	A	T	4: 106,408,013	D1781V	probably damaging	Het
Utp20	A	T	10: 88,772,915	Y1514*	probably null	Het
Vmn1r55	A	T	7: 5,146,996	Y143N	probably damaging	Het
Vmn2r65	A	G	7: 84,946,654	V274A	probably benign	Het
Wdr17	A	G	8: 54,639,489	S1087P	possibly damaging	Het
Wnt5b	C	A	6: 119,440,322	R156L	probably damaging	Het
Zan	T	C	5: 137,435,634	D2279G	unknown	Het
Zan	T	C	5: 137,464,074	T948A	unknown	Het
Zfp758	T	C	17: 22,372,068	S4P	probably damaging	Het
Zfp839	A	G	12: 110,855,586	E278G	probably benign	Het
Zfp994	T	A	17: 22,200,525	H481L	probably damaging	Het
Zswim9	G	A	7: 13,260,983	R416C	probably damaging	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
R3772:Tsc22d4	UTSW	5	137759233	missense	possibly damaging	0.86
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
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

PCR Primer
(F):5'- GTGTCCAGAAGACTGTAGCAG -3'
(R):5'- TTCCAACTGCAGCGCCTAAC -3'

Sequencing Primer
(F):5'- ACTGTAGCAGAGCTGACTTG -3'
(R):5'- TGCCTCAAGGAAGCAGTTAGATACC -3'

Posted On

2016-08-04