Mutagenetix > Incidental Mutations

Incidental Mutation 'R6184:Tsc22d4'

488142

Institutional Source

Beutler Lab

Gene Symbol

Tsc22d4

Ensembl Gene

ENSMUSG00000029723

Gene Name

TSC22 domain family, member 4

Synonyms

0610009M14Rik, 1700023B23Rik, Thg-1pit

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6184 (G1)

Quality Score

95.0077

Status

Not validated

Chromosome

Chromosomal Location

137745730-137768450 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 137759089 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 35 (M35K)

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
AA Change: M326K

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000098107
Gene: ENSMUSG00000029723
AA Change: M326K

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 damaging
Transcript: ENSMUST00000110985
AA Change: M107K

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000106613
Gene: ENSMUSG00000029723
AA Change: M107K

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129399

Predicted Effect

probably damaging
Transcript: ENSMUST00000141733
AA Change: M35K

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000120835
Gene: ENSMUSG00000029723
AA Change: M35K

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.1%

Validation Efficiency

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410004P03Rik	A	G	12: 17,007,178	F106S	probably benign	Het
Adgrv1	A	T	13: 81,433,838	F4696I	probably benign	Het
Ank2	T	C	3: 126,962,398	I1073V	probably damaging	Het
BC048403	T	C	10: 121,750,905	L375P	probably damaging	Het
Card11	A	T	5: 140,898,278	D415E	probably damaging	Het
Clec16a	G	A	16: 10,572,928		probably null	Het
Coro2a	T	C	4: 46,540,504	T472A	probably benign	Het
D130043K22Rik	T	A	13: 24,885,591	F878I	probably damaging	Het
D5Ertd579e	G	T	5: 36,629,783	D80E	probably damaging	Het
Ddrgk1	A	T	2: 130,664,561	V2E	possibly damaging	Het
Disp1	T	C	1: 183,086,332	H1508R	probably benign	Het
Dmtf1	T	C	5: 9,126,656	N344S	probably benign	Het
Eml5	A	G	12: 98,863,129	V503A	possibly damaging	Het
Fat1	A	G	8: 44,953,392	H1060R	probably benign	Het
Fbxw8	C	T	5: 118,113,749	R233Q	probably damaging	Het
Fer1l4	T	C	2: 156,048,291	K238R	probably damaging	Het
Flg	T	A	3: 93,280,050	S270T	probably benign	Het
Gm10801	TC	TCGCC	2: 98,663,806		probably benign	Het
Gm3604	A	T	13: 62,371,845	V32D	probably damaging	Het
Gnl2	T	G	4: 125,054,229		probably null	Het
Gpr162	A	G	6: 124,861,241	S149P	probably damaging	Het
Il2ra	T	A	2: 11,647,979		probably benign	Het
Kmt5b	T	A	19: 3,804,499	M254K	probably damaging	Het
Lrriq3	T	C	3: 155,129,402	I258T	probably benign	Het
Mbnl1	T	C	3: 60,615,744	L328S	probably damaging	Het
Mboat2	A	G	12: 24,951,431	D277G	possibly damaging	Het
Mug2	A	G	6: 122,037,046	I364V	probably benign	Het
Myh7	G	A	14: 54,988,858	R442C	probably damaging	Het
Nin	A	G	12: 70,043,737	L968P	probably damaging	Het
Olfr1137	A	T	2: 87,711,844	Y21N	probably benign	Het
Olfr355	T	C	2: 36,927,392	T241A	probably damaging	Het
Olfr968	T	G	9: 39,772,620	Y60S	probably damaging	Het
Per1	C	T	11: 69,102,904	P403S	probably damaging	Het
Ppip5k2	T	C	1: 97,734,005	I723V	possibly damaging	Het
Ptprg	A	G	14: 12,153,943	T555A	probably benign	Het
Rgsl1	C	T	1: 153,827,448	M187I	probably benign	Het
Sec31a	A	G	5: 100,369,594		probably null	Het
Sptbn5	C	T	2: 120,059,417		probably benign	Het
Sry	C	G	Y: 2,662,975	Q228H	unknown	Het
Stx1b	G	A	7: 127,807,905	T206I	possibly damaging	Het
Zc2hc1c	A	G	12: 85,296,444	K452E	probably damaging	Het
Zfp386	A	G	12: 116,060,513	N582S	possibly damaging	Het
Zfp457	A	G	13: 67,292,912	V437A	possibly damaging	Het
Zfp599	T	C	9: 22,249,651	Y406C	probably benign	Het
Zfyve26	G	A	12: 79,268,727	S1325F	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
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
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
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

Predicted Primers

PCR Primer
(F):5'- AACCTCCATCCCTGTCTGAG -3'
(R):5'- CCCAAAGGCACATTGTGAGG -3'

Sequencing Primer
(F):5'- TTGACCGACTGCTGCCCTG -3'
(R):5'- AGGCTCAGATGGAGGGCC -3'

Posted On

2017-10-10