Incidental Mutation 'R4690:Tnfaip2'
ID 354865
Institutional Source Beutler Lab
Gene Symbol Tnfaip2
Ensembl Gene ENSMUSG00000021281
Gene Name tumor necrosis factor, alpha-induced protein 2
Synonyms M-sec, Tnfip2, Exoc3l3
MMRRC Submission 041941-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4690 (G1)
Quality Score 223
Status Validated
Chromosome 12
Chromosomal Location 111408903-111421452 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 111411682 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 84 (K84R)
Ref Sequence ENSEMBL: ENSMUSP00000133317 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102745] [ENSMUST00000109792] [ENSMUST00000129467] [ENSMUST00000172783] [ENSMUST00000174298]
AlphaFold Q61333
Predicted Effect probably benign
Transcript: ENSMUST00000102745
AA Change: K102R

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000099806
Gene: ENSMUSG00000021281
AA Change: K102R

DomainStartEndE-ValueType
low complexity region 32 48 N/A INTRINSIC
low complexity region 60 72 N/A INTRINSIC
low complexity region 83 89 N/A INTRINSIC
low complexity region 141 147 N/A INTRINSIC
Pfam:Sec6 157 688 1.3e-111 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000109792
AA Change: K102R

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000105415
Gene: ENSMUSG00000021281
AA Change: K102R

DomainStartEndE-ValueType
low complexity region 32 48 N/A INTRINSIC
low complexity region 60 72 N/A INTRINSIC
low complexity region 83 89 N/A INTRINSIC
low complexity region 141 147 N/A INTRINSIC
Pfam:Sec6 157 705 1.7e-107 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127207
Predicted Effect possibly damaging
Transcript: ENSMUST00000129467
AA Change: K102R

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000133274
Gene: ENSMUSG00000021281
AA Change: K102R

DomainStartEndE-ValueType
low complexity region 32 48 N/A INTRINSIC
low complexity region 60 72 N/A INTRINSIC
low complexity region 83 89 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133865
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156003
Predicted Effect possibly damaging
Transcript: ENSMUST00000172783
AA Change: K102R

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000133635
Gene: ENSMUSG00000021281
AA Change: K102R

DomainStartEndE-ValueType
low complexity region 32 48 N/A INTRINSIC
low complexity region 60 72 N/A INTRINSIC
low complexity region 83 89 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000174298
AA Change: K84R

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000133317
Gene: ENSMUSG00000021281
AA Change: K84R

DomainStartEndE-ValueType
low complexity region 14 30 N/A INTRINSIC
low complexity region 42 54 N/A INTRINSIC
low complexity region 65 71 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000174692
Predicted Effect probably benign
Transcript: ENSMUST00000173581
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.5%
Validation Efficiency 98% (89/91)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene was identified as a gene whose expression can be induced by the tumor necrosis factor alpha (TNF) in umbilical vein endothelial cells. The expression of this gene was shown to be induced by retinoic acid in a cell line expressing a oncogenic version of the retinoic acid receptor alpha fusion protein, which suggested that this gene may be a retinoic acid target gene in acute promyelocytic leukemia. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 A G 11: 110,039,706 (GRCm39) F436L probably damaging Het
Adam28 G T 14: 68,879,497 (GRCm39) Q184K probably benign Het
Adh6a A G 3: 138,031,932 (GRCm39) T275A possibly damaging Het
Agap2 A G 10: 126,927,244 (GRCm39) D1082G possibly damaging Het
Alox5 A T 6: 116,400,150 (GRCm39) V263E probably damaging Het
Arhgef16 C T 4: 154,372,420 (GRCm39) probably null Het
Bspry G A 4: 62,404,762 (GRCm39) R186Q probably damaging Het
Ccdc188 T A 16: 18,036,159 (GRCm39) H111Q probably damaging Het
Cd40 T C 2: 164,911,615 (GRCm39) F209S possibly damaging Het
Cfap43 C A 19: 47,736,298 (GRCm39) V1398L probably benign Het
Cln3 A T 7: 126,174,565 (GRCm39) I286N possibly damaging Het
Col9a1 T C 1: 24,263,787 (GRCm39) probably null Het
Cpne9 A G 6: 113,279,016 (GRCm39) E470G probably damaging Het
Cul5 A T 9: 53,534,171 (GRCm39) W654R probably damaging Het
Cyp2a22 T A 7: 26,638,634 (GRCm39) K51* probably null Het
Dcaf10 G A 4: 45,372,769 (GRCm39) R394Q possibly damaging Het
Dot1l C A 10: 80,622,016 (GRCm39) S556* probably null Het
Eif3d A T 15: 77,851,516 (GRCm39) M98K probably benign Het
Fiz1 A G 7: 5,012,167 (GRCm39) V117A probably benign Het
Fryl A G 5: 73,257,636 (GRCm39) V722A probably benign Het
Ftdc1 G A 16: 58,434,333 (GRCm39) T128I probably benign Het
Gm3095 G T 14: 3,964,471 (GRCm38) R63I probably benign Het
Gm7133 A T 1: 97,197,224 (GRCm39) noncoding transcript Het
Hoxb8 A T 11: 96,175,286 (GRCm39) D241V probably benign Het
Hrnr A G 3: 93,230,959 (GRCm39) Q399R unknown Het
Itpk1 A T 12: 102,572,434 (GRCm39) V93D probably damaging Het
Kars1 C T 8: 112,729,216 (GRCm39) A164T probably benign Het
Kcnq4 A T 4: 120,574,208 (GRCm39) I150N probably damaging Het
Kcnrg A T 14: 61,849,176 (GRCm39) L212F probably damaging Het
Kif5b A T 18: 6,216,759 (GRCm39) D521E probably benign Het
Klf11 C T 12: 24,705,071 (GRCm39) T158M probably damaging Het
Klhl6 T C 16: 19,776,034 (GRCm39) I175V probably benign Het
Lsm1 A G 8: 26,283,708 (GRCm39) N40S probably damaging Het
Map1b T C 13: 99,567,576 (GRCm39) E1715G unknown Het
Mecom C A 3: 30,292,459 (GRCm39) A4S probably benign Het
Muc5b G A 7: 141,396,031 (GRCm39) V96M unknown Het
Mug2 A T 6: 122,013,255 (GRCm39) I341L probably benign Het
Mxra7 A T 11: 116,707,078 (GRCm39) probably null Het
Myo5a T C 9: 75,061,105 (GRCm39) L537P probably damaging Het
Myo5b A T 18: 74,855,533 (GRCm39) N1241Y probably damaging Het
Naa16 T C 14: 79,582,497 (GRCm39) R531G probably damaging Het
Neb T A 2: 52,134,087 (GRCm39) M3299L probably benign Het
Nlrp4b T A 7: 10,453,130 (GRCm39) Y76N probably benign Het
Nmral1 T C 16: 4,534,205 (GRCm39) T79A probably damaging Het
Noct C T 3: 51,155,300 (GRCm39) Q23* probably null Het
Nrxn1 A T 17: 90,344,509 (GRCm39) V438D probably damaging Het
Or5b109 A C 19: 13,212,132 (GRCm39) N173H possibly damaging Het
Or5m9 T A 2: 85,877,242 (GRCm39) C139S probably damaging Het
Oxct2a T C 4: 123,216,836 (GRCm39) T182A probably benign Het
Pank2 T C 2: 131,115,945 (GRCm39) I121T probably damaging Het
Pcdh1 T A 18: 38,336,528 (GRCm39) T36S probably benign Het
Pfdn1 A T 18: 36,584,133 (GRCm39) M67K possibly damaging Het
Plec T C 15: 76,058,456 (GRCm39) E3849G probably damaging Het
Polr3a A T 14: 24,514,349 (GRCm39) S817T possibly damaging Het
Pomgnt1 T A 4: 116,012,707 (GRCm39) D401E probably damaging Het
Ppp1r13b T A 12: 111,798,992 (GRCm39) D891V probably damaging Het
Prr14l A G 5: 33,001,500 (GRCm39) probably benign Het
Ptk2b A G 14: 66,410,749 (GRCm39) probably null Het
Rab13 G C 3: 90,128,330 (GRCm39) probably null Het
Rexo1 C T 10: 80,382,255 (GRCm39) A751T probably benign Het
Rfx1 T C 8: 84,809,374 (GRCm39) V233A possibly damaging Het
Rnf149 C T 1: 39,616,295 (GRCm39) probably benign Het
Rrm1 A G 7: 102,097,086 (GRCm39) D122G probably benign Het
Serpina1b A G 12: 103,698,639 (GRCm39) F70S probably damaging Het
Serpinb13 C T 1: 106,910,574 (GRCm39) S66L probably damaging Het
Sh3rf3 T C 10: 58,649,526 (GRCm39) S44P possibly damaging Het
Shroom1 A G 11: 53,356,549 (GRCm39) T471A possibly damaging Het
Slc6a1 A G 6: 114,279,792 (GRCm39) Y152C probably damaging Het
Spata31f3 T A 4: 42,873,032 (GRCm39) probably null Het
Spata6 A T 4: 111,632,023 (GRCm39) T145S probably damaging Het
Srcap G A 7: 127,137,186 (GRCm39) G956D probably damaging Het
Ssh2 A T 11: 77,346,031 (GRCm39) I1339F possibly damaging Het
Tardbp A T 4: 148,697,078 (GRCm39) *99K probably null Het
Tbc1d22a A G 15: 86,196,037 (GRCm39) Y336C probably damaging Het
Tmcc3 G A 10: 94,381,419 (GRCm39) probably benign Het
Tmem178b T G 6: 40,222,547 (GRCm39) D87E probably benign Het
Tmem184a A C 5: 139,791,377 (GRCm39) S380A probably benign Het
Tpgs1 A G 10: 79,511,235 (GRCm39) T126A probably benign Het
Traf3ip1 A G 1: 91,447,834 (GRCm39) E437G possibly damaging Het
Trpc4ap C T 2: 155,477,053 (GRCm39) C755Y probably damaging Het
Tsfm A G 10: 126,866,547 (GRCm39) probably benign Het
Tulp1 A C 17: 28,570,811 (GRCm39) probably benign Het
Vmn1r23 A T 6: 57,903,010 (GRCm39) M256K probably benign Het
Zdhhc8 T C 16: 18,044,605 (GRCm39) D305G probably damaging Het
Zfp326 G A 5: 106,054,942 (GRCm39) R282H probably damaging Het
Other mutations in Tnfaip2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00916:Tnfaip2 APN 12 111,419,983 (GRCm39) missense probably damaging 1.00
IGL01352:Tnfaip2 APN 12 111,412,053 (GRCm39) missense probably damaging 1.00
IGL02550:Tnfaip2 APN 12 111,412,535 (GRCm39) missense probably damaging 1.00
R0103:Tnfaip2 UTSW 12 111,412,244 (GRCm39) missense probably benign 0.38
R0145:Tnfaip2 UTSW 12 111,412,292 (GRCm39) missense possibly damaging 0.87
R0324:Tnfaip2 UTSW 12 111,419,893 (GRCm39) missense probably damaging 1.00
R0609:Tnfaip2 UTSW 12 111,419,941 (GRCm39) missense probably benign 0.01
R0837:Tnfaip2 UTSW 12 111,417,141 (GRCm39) missense probably damaging 1.00
R1353:Tnfaip2 UTSW 12 111,411,403 (GRCm39) missense probably damaging 1.00
R1366:Tnfaip2 UTSW 12 111,415,756 (GRCm39) missense probably benign 0.00
R1988:Tnfaip2 UTSW 12 111,416,325 (GRCm39) critical splice donor site probably null
R2109:Tnfaip2 UTSW 12 111,414,527 (GRCm39) missense probably damaging 1.00
R2147:Tnfaip2 UTSW 12 111,412,456 (GRCm39) missense probably damaging 1.00
R4003:Tnfaip2 UTSW 12 111,417,778 (GRCm39) splice site probably benign
R4402:Tnfaip2 UTSW 12 111,416,285 (GRCm39) missense probably benign 0.43
R4718:Tnfaip2 UTSW 12 111,412,463 (GRCm39) missense possibly damaging 0.95
R5271:Tnfaip2 UTSW 12 111,414,894 (GRCm39) intron probably benign
R6478:Tnfaip2 UTSW 12 111,412,097 (GRCm39) missense probably damaging 1.00
R7623:Tnfaip2 UTSW 12 111,412,072 (GRCm39) missense probably damaging 0.98
R8951:Tnfaip2 UTSW 12 111,412,310 (GRCm39) missense probably benign 0.01
R9168:Tnfaip2 UTSW 12 111,411,382 (GRCm39) missense probably damaging 1.00
R9407:Tnfaip2 UTSW 12 111,412,161 (GRCm39) missense probably benign
R9607:Tnfaip2 UTSW 12 111,412,069 (GRCm39) missense possibly damaging 0.91
Predicted Primers PCR Primer
(F):5'- CTCTACATCCGAGGCTGAATC -3'
(R):5'- AGGCCAATGTCCCATTCAG -3'

Sequencing Primer
(F):5'- GCTGAATCAGAGACCTCCATGTCTG -3'
(R):5'- CATTCAGGACCGCAGCAGAG -3'
Posted On 2015-10-21