Incidental Mutation 'R6700:Tsc22d4'
ID 528206
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 044818-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6700 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 137744274-137758011 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 137756785 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 71 (D71G)
Ref Sequence ENSEMBL: ENSMUSP00000106613 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031738] [ENSMUST00000100539] [ENSMUST00000100540] [ENSMUST00000110983] [ENSMUST00000110985] [ENSMUST00000141733]
AlphaFold Q9EQN3
Predicted Effect probably benign
Transcript: ENSMUST00000031738
SMART Domains Protein: ENSMUSP00000031738
Gene: ENSMUSG00000029723

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Pfam:DUF4703 20 136 1.6e-32 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110985
AA Change: D71G

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000106613
Gene: ENSMUSG00000029723
AA Change: D71G

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Pfam:TSC22 27 82 6.6e-32 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.0%
Validation Efficiency 100% (62/62)
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930563M21Rik T C 9: 55,881,140 (GRCm39) E504G unknown Het
Aak1 G A 6: 86,941,185 (GRCm39) E660K unknown Het
Abcc9 A G 6: 142,633,013 (GRCm39) I243T possibly damaging Het
Baiap3 A G 17: 25,463,000 (GRCm39) S1013P probably damaging Het
Bdp1 A T 13: 100,162,036 (GRCm39) D2295E probably benign Het
Blm A G 7: 80,113,598 (GRCm39) V1233A possibly damaging Het
Brsk1 G T 7: 4,695,700 (GRCm39) V62F probably damaging Het
Cacna2d1 A G 5: 16,570,458 (GRCm39) E1011G probably damaging Het
Cdh18 A G 15: 23,474,191 (GRCm39) Y687C probably benign Het
Cfap221 T C 1: 119,883,421 (GRCm39) E250G possibly damaging Het
Col5a3 C T 9: 20,690,329 (GRCm39) G1162R probably damaging Het
Cps1 G T 1: 67,268,682 (GRCm39) probably null Het
Cyp4v3 A G 8: 45,760,130 (GRCm39) V34A probably damaging Het
Dnah9 C T 11: 65,846,192 (GRCm39) V2949M probably damaging Het
Dst A C 1: 34,295,404 (GRCm39) Q3454P probably damaging Het
Filip1l T C 16: 57,391,611 (GRCm39) L495P possibly damaging Het
Flnb C A 14: 7,892,189 (GRCm38) H619Q probably damaging Het
Fst G C 13: 114,595,043 (GRCm39) A27G probably benign Het
Ggnbp2 C A 11: 84,730,931 (GRCm39) R364L probably damaging Het
Gins1 C T 2: 150,758,148 (GRCm39) A78V probably damaging Het
Gm19410 T A 8: 36,274,664 (GRCm39) L1495H possibly damaging Het
Golgb1 C T 16: 36,695,946 (GRCm39) probably benign Het
Lin7a A G 10: 107,216,167 (GRCm39) probably null Het
Lrp6 A T 6: 134,456,523 (GRCm39) C914S probably damaging Het
Lrrc8e G A 8: 4,286,034 (GRCm39) G753D probably damaging Het
Mapk4 A G 18: 74,063,882 (GRCm39) Y447H probably damaging Het
Mbl1 A G 14: 40,880,511 (GRCm39) N133S probably damaging Het
Mrps30 A T 13: 118,517,134 (GRCm39) S362T probably damaging Het
Myo1c C T 11: 75,562,461 (GRCm39) P918S probably benign Het
Nbea T C 3: 55,989,869 (GRCm39) N329S possibly damaging Het
Or13p10 A T 4: 118,523,609 (GRCm39) K298N probably benign Het
Or51k2 G A 7: 103,596,531 (GRCm39) V253M probably damaging Het
Or5b120 A T 19: 13,480,177 (GRCm39) I157F probably damaging Het
Or6k14 G A 1: 173,927,405 (GRCm39) C127Y probably damaging Het
Pik3c3 A G 18: 30,449,954 (GRCm39) E589G probably benign Het
Plb1 A T 5: 32,490,808 (GRCm39) D1035V probably damaging Het
Plekhg1 G T 10: 3,907,373 (GRCm39) M763I probably benign Het
Poc5 A G 13: 96,531,003 (GRCm39) N67S probably benign Het
Psmd13 T A 7: 140,470,522 (GRCm39) W255R probably damaging Het
Rbm27 A G 18: 42,459,004 (GRCm39) Y735C probably damaging Het
Rhpn2 A T 7: 35,075,594 (GRCm39) N257I possibly damaging Het
Rilpl2 C T 5: 124,607,843 (GRCm39) E126K probably damaging Het
Rp1 G A 1: 4,420,119 (GRCm39) T331M probably damaging Het
Sh3pxd2a A G 19: 47,353,146 (GRCm39) V105A possibly damaging Het
Slc9a9 T C 9: 94,818,364 (GRCm39) S253P possibly damaging Het
St8sia3 C T 18: 64,398,452 (GRCm39) probably benign Het
Strbp T C 2: 37,493,975 (GRCm39) D366G probably null Het
Tbx5 A G 5: 120,009,462 (GRCm39) T324A probably benign Het
Tex15 T A 8: 34,064,917 (GRCm39) I1449N possibly damaging Het
Tmtc3 C T 10: 100,307,339 (GRCm39) V222I probably benign Het
Top3b T C 16: 16,710,533 (GRCm39) S788P possibly damaging Het
Tubgcp4 T A 2: 121,020,329 (GRCm39) V434E probably benign Het
Ufsp1 A G 5: 137,293,158 (GRCm39) Y36C possibly damaging Het
Unc79 T A 12: 103,091,962 (GRCm39) H1956Q possibly damaging Het
Usp34 A T 11: 23,389,011 (GRCm39) N2217I probably damaging Het
Vmn2r112 A T 17: 22,822,462 (GRCm39) D380V possibly damaging Het
Vmn2r13 A G 5: 109,322,938 (GRCm39) I117T probably benign Het
Vmn2r53 A G 7: 12,315,633 (GRCm39) Y729H probably damaging Het
Wnt3a A T 11: 59,140,587 (GRCm39) L310M probably damaging Het
Zc3h7a T C 16: 10,976,831 (GRCm39) Q155R possibly damaging Het
Other mutations in Tsc22d4
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- ATGACCCTCAGGAATGTCCC -3'
(R):5'- TCTTGTTGTCAATGCCAACCAG -3'

Sequencing Primer
(F):5'- TCTGTGAAGTCCTTGGTATCATC -3'
(R):5'- AGGCTTCCGGAACCACTG -3'
Posted On 2018-07-24