Mutagenetix > Incidental Mutation

Incidental Mutation 'R0658:Tsc22d4'

218800

Institutional Source

Beutler Lab

Gene Symbol

Tsc22d4

Ensembl Gene

ENSMUSG00000029723

Gene Name

Tsc22 domain family, member 4

Synonyms

1700023B23Rik, Spacdr, 0610009M14Rik, Tsc22d4, Thg-1pit

MMRRC Submission

038843-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0658 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

137744274-137758011 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 137766283 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 450 (S450P)

Ref Sequence

ENSEMBL: ENSMUSP00000098108 (fasta)

Gene Model

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

AlphaFold

Q9EQN3

Predicted Effect

probably benign
Transcript: ENSMUST00000031738
AA Change: S151P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000031738
Gene: ENSMUSG00000029723
AA Change: S151P

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: ENSMUST00000100540
AA Change: S450P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000098108
Gene: ENSMUSG00000029723
AA Change: S450P

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

unknown
Transcript: ENSMUST00000110983
AA Change: V147A

SMART Domains

Protein: ENSMUSP00000106611
Gene: ENSMUSG00000029723
AA Change: V147A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138698

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.6%

Validation Efficiency

99% (78/79)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abraxas1	C	T	5: 100,965,827 (GRCm39)		probably null	Het
Acsl3	A	G	1: 78,679,004 (GRCm39)	D520G	probably damaging	Het
Adgrl3	T	C	5: 81,796,560 (GRCm39)	V623A	probably benign	Het
Ak9	G	T	10: 41,223,218 (GRCm39)	V454L	probably damaging	Het
Alpk2	C	A	18: 65,482,558 (GRCm39)	K483N	probably damaging	Het
Arhgef12	T	C	9: 42,893,281 (GRCm39)	Y974C	probably damaging	Het
Armc8	C	T	9: 99,418,211 (GRCm39)		probably benign	Het
Atp2a2	C	T	5: 122,595,696 (GRCm39)		probably benign	Het
Atrn	T	C	2: 130,812,147 (GRCm39)		probably null	Het
Caps2	T	A	10: 112,039,943 (GRCm39)		probably benign	Het
Cep76	A	G	18: 67,756,374 (GRCm39)	S486P	probably damaging	Het
Cep97	C	T	16: 55,735,265 (GRCm39)	R583H	probably benign	Het
Cog7	A	G	7: 121,555,363 (GRCm39)		probably benign	Het
Commd5	T	A	15: 76,784,768 (GRCm39)	V55E	probably damaging	Het
Csmd3	A	T	15: 47,874,543 (GRCm39)	D684E	possibly damaging	Het
Ctxn2	T	C	2: 124,989,376 (GRCm39)	M1T	probably null	Het
Exph5	A	G	9: 53,288,775 (GRCm39)	D1952G	unknown	Het
Fmo2	A	T	1: 162,704,343 (GRCm39)	L521Q	possibly damaging	Het
Fryl	T	A	5: 73,222,702 (GRCm39)	T1960S	probably damaging	Het
G6pd2	T	C	5: 61,967,017 (GRCm39)	L264P	probably damaging	Het
Gne	A	T	4: 44,039,033 (GRCm39)	V647E	possibly damaging	Het
Grb14	G	A	2: 64,745,071 (GRCm39)	Q96*	probably null	Het
Gtf3c1	A	G	7: 125,298,134 (GRCm39)	F146L	probably damaging	Het
Gvin3	C	A	7: 106,202,093 (GRCm39)	V384L	possibly damaging	Het
Irak2	A	G	6: 113,615,525 (GRCm39)	Y6C	probably damaging	Het
Kel	T	A	6: 41,679,965 (GRCm39)	N75I	probably damaging	Het
Lgr4	T	A	2: 109,842,132 (GRCm39)	F706I	possibly damaging	Het
Lox	A	T	18: 52,661,955 (GRCm39)	S149R	probably benign	Het
Lrrc66	T	G	5: 73,768,287 (GRCm39)	D218A	probably benign	Het
Luc7l	C	T	17: 26,485,296 (GRCm39)	R99W	probably damaging	Het
Megf10	T	C	18: 57,385,968 (GRCm39)	V327A	probably benign	Het
Mthfd1l	G	T	10: 3,997,976 (GRCm39)		probably null	Het
Myh11	C	A	16: 14,041,883 (GRCm39)	Q720H	probably damaging	Het
Myh8	G	T	11: 67,175,358 (GRCm39)		probably null	Het
Or5b109	A	T	19: 13,212,424 (GRCm39)	D270V	possibly damaging	Het
Pdia3	G	A	2: 121,262,858 (GRCm39)	G275S	probably damaging	Het
Pgf	C	T	12: 85,216,159 (GRCm39)	R153K	probably benign	Het
Pramel12	A	T	4: 143,144,170 (GRCm39)	Q172L	probably damaging	Het
Prdm2	A	G	4: 142,861,835 (GRCm39)	V485A	probably damaging	Het
Rag1	T	C	2: 101,473,028 (GRCm39)	T705A	probably damaging	Het
Rflna	A	C	5: 125,080,774 (GRCm39)	D48A	possibly damaging	Het
Rnf148	A	T	6: 23,654,456 (GRCm39)	I180N	probably damaging	Het
Rtn4	T	A	11: 29,656,475 (GRCm39)	S94T	probably damaging	Het
Scn11a	G	A	9: 119,640,226 (GRCm39)	T223I	probably benign	Het
Scube2	T	A	7: 109,436,327 (GRCm39)		probably benign	Het
Septin14	T	C	5: 129,774,972 (GRCm39)	I68V	probably benign	Het
Sil1	A	T	18: 35,399,910 (GRCm39)	L365Q	possibly damaging	Het
Sirt1	A	G	10: 63,157,515 (GRCm39)		probably benign	Het
Slc9a1	T	C	4: 133,147,810 (GRCm39)		probably benign	Het
Smpdl3a	A	G	10: 57,687,336 (GRCm39)	T355A	probably damaging	Het
Syne2	T	C	12: 76,141,110 (GRCm39)	I6074T	probably damaging	Het
Thbs2	T	A	17: 14,900,587 (GRCm39)	H540L	probably benign	Het
Tshr	C	A	12: 91,505,000 (GRCm39)	S54*	probably null	Het
Ubxn4	G	A	1: 128,190,641 (GRCm39)	E256K	probably benign	Het
Uncx	G	T	5: 139,529,942 (GRCm39)	C65F	probably damaging	Het
Vmn1r87	A	T	7: 12,865,756 (GRCm39)	M177K	probably damaging	Het
Vmn2r56	A	T	7: 12,444,235 (GRCm39)	C466S	probably benign	Het
Wnk1	G	A	6: 119,925,466 (GRCm39)	P1831S	probably damaging	Het
Zfp820	T	C	17: 22,037,901 (GRCm39)	S476G	probably benign	Het

Other mutations in Tsc22d4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
mastodon	UTSW	5	137,749,632 (GRCm39)	critical splice donor site	probably null
Pachyderm	UTSW	5	137,749,627 (GRCm39)	missense	probably null	0.98
BB001:Tsc22d4	UTSW	5	137,766,273 (GRCm39)	missense	unknown
BB002:Tsc22d4	UTSW	5	137,749,627 (GRCm39)	missense	probably null	0.98
BB011:Tsc22d4	UTSW	5	137,766,273 (GRCm39)	missense	unknown
BB012:Tsc22d4	UTSW	5	137,749,627 (GRCm39)	missense	probably null	0.98
R0103:Tsc22d4	UTSW	5	137,745,378 (GRCm39)	start codon destroyed	possibly damaging	0.79
R0570:Tsc22d4	UTSW	5	137,760,681 (GRCm39)	missense	possibly damaging	0.85
R0600:Tsc22d4	UTSW	5	137,760,917 (GRCm39)	missense	probably damaging	0.97
R2073:Tsc22d4	UTSW	5	137,760,749 (GRCm39)	missense	possibly damaging	0.45
R3772:Tsc22d4	UTSW	5	137,757,495 (GRCm39)	missense	possibly damaging	0.86
R4012:Tsc22d4	UTSW	5	137,756,590 (GRCm39)	missense	probably benign	0.02
R4232:Tsc22d4	UTSW	5	137,749,632 (GRCm39)	critical splice donor site	probably null
R5378:Tsc22d4	UTSW	5	137,760,726 (GRCm39)	missense	probably damaging	0.99
R5394:Tsc22d4	UTSW	5	137,757,036 (GRCm39)	intron	probably benign
R5677:Tsc22d4	UTSW	5	137,745,404 (GRCm39)	missense	probably damaging	1.00
R5765:Tsc22d4	UTSW	5	137,756,805 (GRCm39)	missense	probably benign	0.04
R6184:Tsc22d4	UTSW	5	137,757,351 (GRCm39)	missense	probably damaging	0.99
R6263:Tsc22d4	UTSW	5	137,766,441 (GRCm39)	missense	possibly damaging	0.85
R6700:Tsc22d4	UTSW	5	137,756,785 (GRCm39)	missense	probably benign	0.04
R6821:Tsc22d4	UTSW	5	137,760,906 (GRCm39)	missense	possibly damaging	0.92
R6877:Tsc22d4	UTSW	5	137,760,855 (GRCm39)	missense	possibly damaging	0.85
R7354:Tsc22d4	UTSW	5	137,766,371 (GRCm39)	missense	probably benign	0.12
R7376:Tsc22d4	UTSW	5	137,756,414 (GRCm39)	missense	unknown
R7499:Tsc22d4	UTSW	5	137,745,985 (GRCm39)	missense	probably benign	0.19
R7731:Tsc22d4	UTSW	5	137,756,956 (GRCm39)	missense	possibly damaging	0.93
R7924:Tsc22d4	UTSW	5	137,766,273 (GRCm39)	missense	unknown
R7925:Tsc22d4	UTSW	5	137,749,627 (GRCm39)	missense	probably null	0.98
R8556:Tsc22d4	UTSW	5	137,745,849 (GRCm39)	missense	probably damaging	1.00
R9082:Tsc22d4	UTSW	5	137,749,509 (GRCm39)	missense	probably damaging	1.00
R9569:Tsc22d4	UTSW	5	137,756,428 (GRCm39)	missense	probably benign
Z1186:Tsc22d4	UTSW	5	137,756,611 (GRCm39)	missense	possibly damaging	0.53

Predicted Primers

PCR Primer
(F):5'- TCCTGGAGGAAGTGATGCCTATGC -3'
(R):5'- TCGAATGTCTCCTCACCAGTAGCTC -3'

Sequencing Primer
(F):5'- gaagtgatgcctatgctaatctg -3'
(R):5'- CTGTCAATCTTCCGTAAGAGTGAG -3'

Posted On

2014-08-21