Mutagenetix > Incidental Mutation

Incidental Mutation 'R4232:Tsc22d4'

320904

Institutional Source

Beutler Lab

Gene Symbol

Tsc22d4

Ensembl Gene

ENSMUSG00000029723

Gene Name

TSC22 domain family, member 4

Synonyms

0610009M14Rik, 1700023B23Rik, Thg-1pit

MMRRC Submission

041051-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4232 (G1)

Quality Score

183

Status

Validated

Chromosome

Chromosomal Location

137745730-137768450 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 137751370 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000098108 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000100539] [ENSMUST00000100539] [ENSMUST00000100540] [ENSMUST00000100540]

AlphaFold

Q9EQN3

Predicted Effect

probably null
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 null
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 null
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 null
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

noncoding transcript
Transcript: ENSMUST00000129349

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129399

Meta Mutation Damage Score

0.9499

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

92% (58/63)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930567H17Rik	C	T	X: 70,394,529	A53T	probably benign	Het
Ajuba	T	C	14: 54,569,526	R490G	probably damaging	Het
Akap6	T	A	12: 53,139,671	N1289K	probably damaging	Het
Arhgap21	A	G	2: 20,887,137	V161A	probably damaging	Het
Atg14	T	C	14: 47,551,345	K184E	probably benign	Het
Aven	A	G	2: 112,627,768	D167G	probably damaging	Het
Celsr2	A	G	3: 108,413,772	F575L	probably benign	Het
Cflar	A	T	1: 58,740,993	Q249L	possibly damaging	Het
Col7a1	G	A	9: 108,972,813		probably null	Het
Dmxl2	T	C	9: 54,419,909	D944G	possibly damaging	Het
Dnah1	T	C	14: 31,304,916	N717S	probably benign	Het
Dnaja3	T	A	16: 4,699,871	N322K	possibly damaging	Het
Dnajb3	A	G	1: 88,205,252	S143P	possibly damaging	Het
Dtx3	A	G	10: 127,193,189	I60T	possibly damaging	Het
Dvl3	A	G	16: 20,524,233		probably benign	Het
Fam71b	C	A	11: 46,407,405	T512K	possibly damaging	Het
Fkbp7	A	T	2: 76,663,317	D177E	possibly damaging	Het
Galnt7	T	C	8: 57,652,966	I5V	probably benign	Het
Helz2	A	T	2: 181,229,902	L2639Q	probably damaging	Het
Hnrnpr	T	C	4: 136,339,189	M394T	probably benign	Het
Ip6k2	G	A	9: 108,805,648	R319Q	probably benign	Het
Kif14	T	A	1: 136,516,363	C1364*	probably null	Het
Macf1	T	C	4: 123,432,392	E5104G	probably damaging	Het
Mkl1	T	A	15: 81,023,595	K29M	probably damaging	Het
Mrps30	T	C	13: 118,386,840	D132G	probably damaging	Het
Mtbp	CATGA	CATGAATGA	15: 55,620,677		probably null	Het
Nfkb1	A	G	3: 135,603,770	V521A	probably damaging	Het
Olfr1535	T	C	13: 21,555,461	D187G	probably damaging	Het
Olfr850	G	T	9: 19,477,726	L175M	probably damaging	Het
P2rx6	T	C	16: 17,570,767	L335P	probably damaging	Het
Pcdhga5	A	G	18: 37,695,948	D483G	possibly damaging	Het
Pgpep1l	T	C	7: 68,237,079	T161A	probably benign	Het
Prss40	A	G	1: 34,560,792	V38A	probably benign	Het
Ptk2	C	A	15: 73,309,849	R104L	possibly damaging	Het
Ralgapa1	C	T	12: 55,640,644	R2019Q	probably damaging	Het
Rin2	C	T	2: 145,860,446	T354I	probably benign	Het
Rtp4	A	G	16: 23,613,083	N122D	possibly damaging	Het
Samd8	A	G	14: 21,780,145	Y213C	probably benign	Het
Shcbp1	T	A	8: 4,736,372	T577S	probably benign	Het
Tiprl	A	G	1: 165,222,587	V153A	probably damaging	Het
Tmprss7	A	T	16: 45,656,573	D775E	probably damaging	Het
Tnr	T	C	1: 159,886,215	S738P	possibly damaging	Het
Ttc21a	A	T	9: 119,942,618	H161L	probably benign	Het
Ubqln3	T	A	7: 104,141,803	E360V	probably benign	Het
Ugt1a10	C	A	1: 88,056,210	D243E	probably benign	Het
Vmn2r19	G	A	6: 123,329,912	V460I	probably benign	Het
Vmn2r58	T	A	7: 41,837,587	Y628F	possibly damaging	Het
Wnk1	A	T	6: 119,949,261	S1588T	possibly damaging	Het
Wscd2	A	G	5: 113,560,984	D200G	probably benign	Het
Zfp831	G	C	2: 174,705,654	W1543C	possibly 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
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
R9082:Tsc22d4	UTSW	5	137751247	missense	probably damaging	1.00
R9569:Tsc22d4	UTSW	5	137758166	missense	probably benign
Z1186:Tsc22d4	UTSW	5	137758349	missense	possibly damaging	0.53

Predicted Primers

PCR Primer
(F):5'- CAGTCTTCACCCTATATGATGGTTC -3'
(R):5'- TCTTGACTGAGCCAAGGAGTC -3'

Sequencing Primer
(F):5'- ACCCTATATGATGGTTCCCACTC -3'
(R):5'- AAGGAGTCCCACCCAGCTTTTTC -3'

Posted On

2015-06-12