Mutagenetix > Incidental Mutation

Incidental Mutation 'R7925:Tsc22d4'

643267

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

045972-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7925 (G1)

Quality Score

999

Status

Validated

Chromosome

Chromosomal Location

137744274-137758011 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 137749627 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 301 (D301G)

Ref Sequence

ENSEMBL: ENSMUSP00000098108 (fasta)

Gene Model

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

AlphaFold

Q9EQN3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000100539
AA Change: D301G

PolyPhen 2 Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000098107
Gene: ENSMUSG00000029723
AA Change: D301G

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
AA Change: D301G

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000098108
Gene: ENSMUSG00000029723
AA Change: D301G

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

Meta Mutation Damage Score

0.0963

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.9%
20x: 99.7%

Validation Efficiency

100% (59/59)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	C	T	7: 40,643,506 (GRCm39)	Q392*	probably null	Het
4933427D14Rik	A	C	11: 72,071,327 (GRCm39)	L473V	probably benign	Het
A930002H24Rik	A	T	17: 64,170,392 (GRCm39)	V132E	unknown	Het
Abcc2	A	G	19: 43,795,551 (GRCm39)	I436V	probably benign	Het
Ahr	G	A	12: 35,565,067 (GRCm39)	Q103*	probably null	Het
Asb15	T	A	6: 24,562,723 (GRCm39)	H228Q	probably benign	Het
Asphd1	T	A	7: 126,547,628 (GRCm39)	Y225F	probably damaging	Het
Atp2c1	A	G	9: 105,319,969 (GRCm39)	M468T	possibly damaging	Het
Brca1	A	G	11: 101,398,972 (GRCm39)	I1540T	probably benign	Het
Ccn5	G	C	2: 163,670,961 (GRCm39)	R156T	possibly damaging	Het
Cdh20	A	T	1: 104,912,473 (GRCm39)	I576F	probably damaging	Het
Chst11	T	A	10: 83,026,788 (GRCm39)	S72T	probably damaging	Het
Cldn17	T	G	16: 88,303,533 (GRCm39)	K65N	probably damaging	Het
Cldn22	T	C	8: 48,278,222 (GRCm39)	I220T	probably benign	Het
Coasy	T	G	11: 100,974,522 (GRCm39)	D229E	probably benign	Het
Colec10	T	C	15: 54,325,767 (GRCm39)	V199A	probably damaging	Het
Cpn2	G	T	16: 30,079,619 (GRCm39)	D27E	probably damaging	Het
F5	T	A	1: 164,003,935 (GRCm39)		probably null	Het
Fat3	C	T	9: 15,942,656 (GRCm39)	V1239I	possibly damaging	Het
Fbxl16	A	G	17: 26,035,880 (GRCm39)	N159S	probably benign	Het
Fhad1	A	G	4: 141,681,498 (GRCm39)	I514T	probably damaging	Het
Fras1	A	G	5: 96,929,443 (GRCm39)	K3949R	probably damaging	Het
Gm8126	A	G	14: 43,119,023 (GRCm39)	N164S	probably damaging	Het
Grm3	T	A	5: 9,639,880 (GRCm39)	E55V	probably benign	Het
Itgbl1	G	A	14: 124,210,735 (GRCm39)	D478N	possibly damaging	Het
Kcnt2	T	A	1: 140,282,247 (GRCm39)	Y77*	probably null	Het
Kdm4c	T	C	4: 74,323,058 (GRCm39)	S997P	probably damaging	Het
Kti12	A	C	4: 108,705,443 (GRCm39)	E119A	probably benign	Het
Kti12	G	T	4: 108,705,444 (GRCm39)	E119D	probably benign	Het
Lrrc28	T	C	7: 67,268,857 (GRCm39)	Y71C	probably damaging	Het
Lrrc45	T	A	11: 120,606,706 (GRCm39)	W203R	probably benign	Het
Lrrc66	A	T	5: 73,765,835 (GRCm39)	C403S	possibly damaging	Het
Ly6g6e	A	T	17: 35,296,894 (GRCm39)	E45V	probably damaging	Het
Mgam	C	T	6: 40,735,985 (GRCm39)	T1574I	probably damaging	Het
Msrb2	A	T	2: 19,388,091 (GRCm39)	M80L	probably benign	Het
Musk	T	A	4: 58,367,513 (GRCm39)	L592Q	probably damaging	Het
Nlrp4a	C	A	7: 26,150,011 (GRCm39)	N539K	probably benign	Het
Obscn	C	G	11: 59,003,381 (GRCm39)	E1306Q	probably benign	Het
Opalin	T	A	19: 41,052,242 (GRCm39)	*144C	probably null	Het
Or1e28-ps1	A	G	11: 73,615,362 (GRCm39)	S163P	unknown	Het
Or1l8	A	G	2: 36,817,371 (GRCm39)	F252L	possibly damaging	Het
Or4f4-ps1	A	G	2: 111,330,166 (GRCm39)	S190G	probably damaging	Het
Or9g4	T	C	2: 85,504,907 (GRCm39)	E196G		Het
Pdgfra	T	A	5: 75,353,079 (GRCm39)		probably benign	Het
Pgam2	T	A	11: 5,753,007 (GRCm39)	H196L	possibly damaging	Het
Pgls	T	C	8: 72,044,996 (GRCm39)	S46P	probably damaging	Het
Prrc2b	A	G	2: 32,094,127 (GRCm39)	E503G	probably damaging	Het
Prss45	T	C	9: 110,670,103 (GRCm39)	L304P	unknown	Het
Rbm20	T	A	19: 53,801,753 (GRCm39)	V87D	probably damaging	Het
Rskr	T	C	11: 78,182,449 (GRCm39)	L86P	probably damaging	Het
Serpinb8	T	C	1: 107,526,715 (GRCm39)	L85S	probably benign	Het
Sf3a2	ACTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGT	ACTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGT	10: 80,640,271 (GRCm39)		probably benign	Het
Sh2b2	A	T	5: 136,253,115 (GRCm39)	H352Q	probably benign	Het
Slc6a17	T	C	3: 107,403,056 (GRCm39)	I124V	probably damaging	Het
Smim10l1	G	A	6: 133,082,545 (GRCm39)	V31M	probably damaging	Het
Snx10	T	C	6: 51,557,301 (GRCm39)	S78P	probably benign	Het
Stard10	T	C	7: 100,991,838 (GRCm39)	V187A	probably damaging	Het
Svil	C	A	18: 5,118,357 (GRCm39)	D2146E	probably benign	Het
Ube3c	T	A	5: 29,851,429 (GRCm39)	I752N	probably damaging	Het
Wwc1	T	C	11: 35,734,990 (GRCm39)	M962V	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
R0658:Tsc22d4	UTSW	5	137,766,283 (GRCm39)	missense	probably benign
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
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'- TCCCAGTCTTCACCCTATATGATGG -3'
(R):5'- TTGACTGAGCCAAGGAGTCC -3'

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

Posted On

2020-08-07