Incidental Mutation 'R3772:Tsc22d4'
ID473707
Institutional Source Beutler Lab
Gene Symbol Tsc22d4
Ensembl Gene ENSMUSG00000029723
Gene NameTSC22 domain family, member 4
Synonyms0610009M14Rik, 1700023B23Rik, Thg-1pit
MMRRC Submission 040748-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R3772 (G1)
Quality Score105
Status Not validated
Chromosome5
Chromosomal Location137745730-137768450 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 137759233 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 374 (L374P)
Ref Sequence ENSEMBL: ENSMUSP00000098107 (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

DomainStartEndE-ValueType
low complexity region 89 104 N/A INTRINSIC
low complexity region 167 184 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000100539
AA Change: L374P

PolyPhen 2 Score 0.864 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000098107
Gene: ENSMUSG00000029723
AA Change: L374P

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 possibly damaging
Transcript: ENSMUST00000110985
AA Change: L155P

PolyPhen 2 Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000106613
Gene: ENSMUSG00000029723
AA Change: L155P

DomainStartEndE-ValueType
Pfam:TSC22 99 158 9.1e-33 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129399
Predicted Effect possibly damaging
Transcript: ENSMUST00000141733
AA Change: L83P

PolyPhen 2 Score 0.674 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000120835
Gene: ENSMUSG00000029723
AA Change: L83P

DomainStartEndE-ValueType
Pfam:TSC22 27 82 6.6e-32 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.5%
Validation Efficiency 100% (77/77)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810041L15Rik A T 15: 84,406,685 Y120* probably null Het
Abcb11 T A 2: 69,329,376 probably benign Het
Adgrl1 A G 8: 83,923,004 N97S possibly damaging Het
Aldh1a2 A G 9: 71,252,920 D76G probably damaging Het
Aldh3a1 A G 11: 61,214,605 E179G possibly damaging Het
Ap1g1 A G 8: 109,837,786 D324G probably damaging Het
Arfgap2 A G 2: 91,265,366 T12A probably benign Het
Aurka A G 2: 172,366,960 L85P probably benign Het
Birc6 T A 17: 74,618,429 probably benign Het
Bmp7 A T 2: 172,870,222 I403N probably damaging Het
Carns1 A G 19: 4,170,916 probably benign Het
Ccdc88c G A 12: 100,966,100 probably benign Het
Ccl2 C T 11: 82,036,958 A76V probably damaging Het
Cd109 CATTTATTTATTTATTTATTTATTTATTTATTTAT CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT 9: 78,712,500 probably benign Het
Clstn2 A G 9: 97,582,562 I180T probably damaging Het
Col24a1 T C 3: 145,545,286 L1680P probably damaging Het
Col4a6 C A X: 141,172,200 G1416C probably damaging Het
Ctnna2 T G 6: 76,973,769 N573T probably damaging Het
Cts8 G A 13: 61,250,901 probably benign Het
Cxcl17 A G 7: 25,400,329 probably benign Het
Defb18 T C 1: 18,236,621 H37R possibly damaging Het
Dis3l2 T C 1: 86,854,408 I229T probably benign Het
Dysf G A 6: 84,152,351 S1474N possibly damaging Het
Elf1 T C 14: 79,567,210 V105A possibly damaging Het
F13a1 T C 13: 36,898,134 K532R probably benign Het
Fmn1 T G 2: 113,582,118 S996A probably damaging Het
Focad A C 4: 88,336,161 probably benign Het
Frmd4a A T 2: 4,590,622 E109D probably damaging Het
Frrs1 T G 3: 116,878,387 S45A possibly damaging Het
Gm5422 T A 10: 31,248,514 noncoding transcript Het
Gm5866 T C 5: 52,582,746 noncoding transcript Het
Hmcn2 C T 2: 31,360,896 T790M probably damaging Het
Iglon5 A T 7: 43,480,613 Y42* probably null Het
Khdrbs2 C T 1: 32,244,076 Q90* probably null Het
Krt74 T C 15: 101,762,195 noncoding transcript Het
Lamc2 T A 1: 153,124,251 M1121L probably benign Het
Lrig1 A G 6: 94,605,817 L1073P probably benign Het
Lrp5 G A 19: 3,612,330 R173C probably damaging Het
Man2c1 C A 9: 57,140,377 probably benign Het
Megf10 G A 18: 57,283,862 D768N probably benign Het
Mycbp2 T C 14: 103,133,788 N4108S possibly damaging Het
Nid1 A G 13: 13,476,418 probably benign Het
Nnt A G 13: 119,396,952 V59A probably damaging Het
Nsd1 G A 13: 55,246,673 V696I probably benign Het
Olfr99 T C 17: 37,279,854 T189A probably benign Het
Pag1 G A 3: 9,699,628 T155M probably benign Het
Pgam5 T C 5: 110,265,593 H176R probably damaging Het
Pid1 T C 1: 84,038,197 D149G probably damaging Het
Pkp3 G A 7: 141,082,346 M1I probably null Het
Pld2 C T 11: 70,544,123 probably benign Het
Ptpro T A 6: 137,443,594 V1007D probably damaging Het
Ptprs T C 17: 56,428,978 T152A possibly damaging Het
Rab9b T A X: 136,861,449 E67D probably damaging Het
Rin2 C T 2: 145,860,446 T354I probably benign Het
Rnf214 T C 9: 45,866,634 M625V possibly damaging Het
Rwdd2a A C 9: 86,574,161 N130T possibly damaging Het
Scn9a T C 2: 66,483,648 N1909D probably benign Het
Sept10 A T 10: 59,176,887 M303K probably damaging Het
Sez6l2 A G 7: 126,959,203 E339G probably damaging Het
Sf3b1 C A 1: 54,999,991 probably benign Het
Ska3 C T 14: 57,810,077 V334I probably benign Het
Srebf2 A G 15: 82,182,108 K579R probably benign Het
St18 A T 1: 6,844,329 K799I probably damaging Het
Strada C T 11: 106,164,822 R333Q probably damaging Het
Stradb A T 1: 58,985,385 I64L probably benign Het
Sun1 A G 5: 139,238,820 probably benign Het
Tecta T C 9: 42,330,996 T2094A probably damaging Het
Tenm4 A T 7: 96,694,880 R227W probably damaging Het
Tnk2 A G 16: 32,679,822 D651G probably damaging Het
Trim43c A T 9: 88,847,757 D417V probably damaging Het
Ttn T C 2: 76,771,367 T16872A probably benign Het
Ubr4 T C 4: 139,452,700 V262A possibly damaging Het
Vmn2r60 A T 7: 42,116,556 N29I probably benign Het
Xrn2 T C 2: 147,061,287 V765A probably benign Het
Zbed4 C T 15: 88,780,787 P353S probably benign Het
Zfp251 A G 15: 76,853,636 I414T possibly damaging Het
Zfp426 A T 9: 20,473,117 probably null Het
Zwilch A T 9: 64,156,034 F286I probably benign Het
Other mutations in Tsc22d4
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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
Predicted Primers
Posted On2017-04-14