Incidental Mutation 'R2509:Tagap'
ID 251857
Institutional Source Beutler Lab
Gene Symbol Tagap
Ensembl Gene ENSMUSG00000033450
Gene Name T cell activation Rho GTPase activating protein
Synonyms Tcd1, TRD, tcs1, tcs-1, Tcd-1, Tcd1a
MMRRC Submission 040415-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.143) question?
Stock # R2509 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 8144832-8153729 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 8147586 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 99 (T99A)
Ref Sequence ENSEMBL: ENSMUSP00000047431 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036370]
AlphaFold B2RWW0
Predicted Effect probably benign
Transcript: ENSMUST00000036370
AA Change: T99A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000047431
Gene: ENSMUSG00000033450
AA Change: T99A

DomainStartEndE-ValueType
RhoGAP 98 274 1.16e-35 SMART
low complexity region 350 361 N/A INTRINSIC
low complexity region 459 478 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159947
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160177
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160545
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226153
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 96% (105/109)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Rho GTPase-activator protein superfamily. The encoded protein may function as a Rho GTPase-activating protein. Alterations in this gene may be associated with several diseases, including rheumatoid arthritis, celiac disease, and multiple sclerosis. Alternate splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2013]
Allele List at MGI
Other mutations in this stock
Total: 108 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik T C 3: 124,200,102 (GRCm39) I497V probably benign Het
4930571K23Rik C A 7: 124,968,311 (GRCm39) noncoding transcript Het
Abca17 G T 17: 24,508,587 (GRCm39) probably benign Het
Ablim1 C T 19: 57,140,791 (GRCm39) R196Q probably damaging Het
Acot11 T C 4: 106,612,516 (GRCm39) I379V possibly damaging Het
Acot4 G A 12: 84,088,647 (GRCm39) G165D probably damaging Het
Agrn A T 4: 156,250,881 (GRCm39) probably null Het
Ahctf1 T C 1: 179,598,258 (GRCm39) S945G possibly damaging Het
Akr1c13 C T 13: 4,248,583 (GRCm39) R263C probably damaging Het
Arfgap1 T A 2: 180,615,846 (GRCm39) probably benign Het
Arhgef3 A G 14: 27,101,633 (GRCm39) K103R probably damaging Het
Cabp1 A T 5: 115,310,843 (GRCm39) N211K probably damaging Het
Cacna1c T A 6: 118,711,943 (GRCm39) D261V probably damaging Het
Car11 G A 7: 45,350,783 (GRCm39) G93E probably damaging Het
Card10 A G 15: 78,664,473 (GRCm39) I821T probably benign Het
Cast T C 13: 74,885,735 (GRCm39) I277V probably benign Het
Cenpj T C 14: 56,769,694 (GRCm39) K1165R probably null Het
Cenpk A G 13: 104,370,675 (GRCm39) probably null Het
Cfap251 A G 5: 123,394,169 (GRCm39) K353E probably benign Het
Cmya5 T C 13: 93,230,066 (GRCm39) Q1674R probably benign Het
Cnnm1 T A 19: 43,430,325 (GRCm39) V481D probably damaging Het
Cracdl T C 1: 37,664,381 (GRCm39) M506V probably benign Het
Csmd3 CCTTTGCGCTT CCTT 15: 47,604,632 (GRCm39) probably null Het
Cyp2c50 G A 19: 40,079,013 (GRCm39) V119I probably benign Het
Dnah7b A G 1: 46,234,447 (GRCm39) T1460A probably damaging Het
Dnah8 G A 17: 30,994,019 (GRCm39) D3379N probably benign Het
Dnajc4 C T 19: 6,968,111 (GRCm39) R55H probably damaging Het
Ebf4 C T 2: 130,148,482 (GRCm39) R98* probably null Het
Epha4 G A 1: 77,488,339 (GRCm39) A47V possibly damaging Het
Ercc8 T C 13: 108,320,251 (GRCm39) probably benign Het
Exo1 T C 1: 175,733,399 (GRCm39) F75S probably damaging Het
Fam168a G T 7: 100,483,391 (GRCm39) probably null Het
Fat3 G A 9: 15,836,310 (GRCm39) R4065W possibly damaging Het
Gm5431 T A 11: 48,779,536 (GRCm39) N740I probably benign Het
Gm5900 T A 7: 104,599,571 (GRCm39) noncoding transcript Het
Gpi1 A G 7: 33,905,348 (GRCm39) S359P probably damaging Het
Gpr156 A G 16: 37,768,149 (GRCm39) R22G probably benign Het
Greb1 A G 12: 16,774,923 (GRCm39) V158A probably damaging Het
Grin2c T A 11: 115,141,894 (GRCm39) K842* probably null Het
Gsta5 T A 9: 78,202,089 (GRCm39) M1K probably null Het
Hnf4a T A 2: 163,408,161 (GRCm39) L329Q probably damaging Het
Hsp90ab1 A G 17: 45,880,267 (GRCm39) L92P probably damaging Het
Ido1 T A 8: 25,074,501 (GRCm39) R290* probably null Het
Ifnlr1 G T 4: 135,432,559 (GRCm39) D332Y probably damaging Het
Ift172 T C 5: 31,420,312 (GRCm39) N1108S probably benign Het
Igkv3-9 T A 6: 70,565,728 (GRCm39) M109K probably benign Het
Igsf10 T C 3: 59,239,287 (GRCm39) D298G probably damaging Het
Iqck T G 7: 118,475,505 (GRCm39) M98R probably benign Het
Klk1b1 T C 7: 43,618,803 (GRCm39) V60A probably damaging Het
Krtap1-3 C T 11: 99,481,653 (GRCm39) E165K unknown Het
Lair1 A G 7: 4,013,782 (GRCm39) L155P probably damaging Het
Maco1 A G 4: 134,531,699 (GRCm39) S657P probably damaging Het
Mast4 G T 13: 102,990,350 (GRCm39) S57Y probably damaging Het
Mical3 T C 6: 121,011,118 (GRCm39) H360R probably damaging Het
Muc5b A T 7: 141,412,798 (GRCm39) N1915Y unknown Het
Myh1 A G 11: 67,096,423 (GRCm39) I301V probably benign Het
Nck2 T A 1: 43,593,393 (GRCm39) V200E probably damaging Het
Odad4 T G 11: 100,444,361 (GRCm39) L222R probably damaging Het
Or2y1b T G 11: 49,209,048 (GRCm39) L225R probably damaging Het
Or4b12 T C 2: 90,096,030 (GRCm39) Y248C possibly damaging Het
Or4c109 T G 2: 88,817,775 (GRCm39) Y257S probably damaging Het
Or4f60 T A 2: 111,902,837 (GRCm39) L30F probably benign Het
Or4k38 C T 2: 111,166,076 (GRCm39) V116I probably damaging Het
Or52n2c G A 7: 104,574,894 (GRCm39) H26Y probably benign Het
Or5b101 T A 19: 13,005,058 (GRCm39) I212F probably damaging Het
Or8b12i A G 9: 20,082,525 (GRCm39) L114P probably damaging Het
Otoa C T 7: 120,759,695 (GRCm39) T1099I probably benign Het
Pask T A 1: 93,258,485 (GRCm39) I288F possibly damaging Het
Pcnx4 T C 12: 72,613,746 (GRCm39) W564R probably damaging Het
Pip4p1 A T 14: 51,167,115 (GRCm39) Y129* probably null Het
Pitpnm2 T C 5: 124,274,389 (GRCm39) E240G probably damaging Het
Ppp1r16b A G 2: 158,603,383 (GRCm39) Y436C possibly damaging Het
Pramel27 G A 4: 143,578,561 (GRCm39) V274I probably benign Het
Prkca T C 11: 107,870,032 (GRCm39) Y37C probably damaging Het
Rad18 T G 6: 112,652,883 (GRCm39) H238P possibly damaging Het
Rap1b T A 10: 117,654,444 (GRCm39) Q1L probably damaging Het
Rgs9 T C 11: 109,159,798 (GRCm39) Y178C probably benign Het
Rpl3l A T 17: 24,951,360 (GRCm39) D87V possibly damaging Het
Scrn2 T C 11: 96,923,992 (GRCm39) V292A possibly damaging Het
Sdad1 A G 5: 92,453,684 (GRCm39) Y35H probably benign Het
Sez6l2 T C 7: 126,552,944 (GRCm39) S177P probably benign Het
Sh3bp1 C T 15: 78,795,706 (GRCm39) P612S probably damaging Het
Shank1 T C 7: 44,001,148 (GRCm39) S956P unknown Het
Shank1 G A 7: 44,001,547 (GRCm39) A1089T unknown Het
Shprh G A 10: 11,042,468 (GRCm39) C817Y probably damaging Het
Spata22 C T 11: 73,236,593 (GRCm39) P300S probably damaging Het
Sstr2 A T 11: 113,515,749 (GRCm39) I223F probably damaging Het
Stom C T 2: 35,210,354 (GRCm39) A217T probably damaging Het
Stpg1 T C 4: 135,263,960 (GRCm39) V341A probably benign Het
Tas1r2 A G 4: 139,387,162 (GRCm39) N207S probably damaging Het
Thbs2 A G 17: 14,906,105 (GRCm39) V265A probably benign Het
Thyn1 A G 9: 26,911,316 (GRCm39) R3G possibly damaging Het
Tia1 T A 6: 86,401,312 (GRCm39) probably null Het
Tktl2 A G 8: 66,965,504 (GRCm39) E354G probably benign Het
Tmc8 A G 11: 117,683,511 (GRCm39) T689A possibly damaging Het
Tmem11 A T 11: 60,755,807 (GRCm39) probably null Het
Tnik T C 3: 28,722,064 (GRCm39) V1310A probably damaging Het
Trappc10 A G 10: 78,047,357 (GRCm39) S380P possibly damaging Het
Trim8 C T 19: 46,503,734 (GRCm39) P429S probably benign Het
Ttn C A 2: 76,687,756 (GRCm39) probably benign Het
Ulk2 T C 11: 61,678,340 (GRCm39) Y793C probably benign Het
Vill G A 9: 118,899,370 (GRCm39) V337M possibly damaging Het
Vps53 C A 11: 75,957,661 (GRCm39) V364F possibly damaging Het
Zan A T 5: 137,454,848 (GRCm39) I1396N unknown Het
Zfa-ps A C 10: 52,420,339 (GRCm39) noncoding transcript Het
Zfp426 T C 9: 20,381,977 (GRCm39) T337A possibly damaging Het
Zfp536 T C 7: 37,267,403 (GRCm39) E671G possibly damaging Het
Zfp985 A G 4: 147,667,443 (GRCm39) T104A possibly damaging Het
Other mutations in Tagap
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01554:Tagap APN 17 8,151,780 (GRCm39) missense probably benign 0.01
IGL02589:Tagap APN 17 8,152,504 (GRCm39) missense possibly damaging 0.87
BB003:Tagap UTSW 17 8,145,770 (GRCm39) critical splice donor site probably null
BB013:Tagap UTSW 17 8,145,770 (GRCm39) critical splice donor site probably null
R1750:Tagap UTSW 17 8,148,742 (GRCm39) missense probably benign 0.06
R1791:Tagap UTSW 17 8,152,377 (GRCm39) missense probably benign 0.04
R1791:Tagap UTSW 17 8,150,299 (GRCm39) missense probably damaging 1.00
R4093:Tagap UTSW 17 8,148,255 (GRCm39) missense probably damaging 1.00
R4627:Tagap UTSW 17 8,145,773 (GRCm39) splice site probably null
R4747:Tagap UTSW 17 8,151,030 (GRCm39) missense probably benign
R5222:Tagap UTSW 17 8,152,474 (GRCm39) missense possibly damaging 0.92
R5222:Tagap UTSW 17 8,152,473 (GRCm39) missense possibly damaging 0.61
R5866:Tagap UTSW 17 8,152,285 (GRCm39) missense probably damaging 0.98
R6392:Tagap UTSW 17 8,152,893 (GRCm39) missense probably damaging 0.99
R6638:Tagap UTSW 17 8,145,906 (GRCm39) missense possibly damaging 0.71
R6649:Tagap UTSW 17 8,152,546 (GRCm39) missense probably benign 0.36
R6653:Tagap UTSW 17 8,152,546 (GRCm39) missense probably benign 0.36
R7478:Tagap UTSW 17 8,152,422 (GRCm39) missense possibly damaging 0.87
R7509:Tagap UTSW 17 8,147,568 (GRCm39) missense probably damaging 0.99
R7926:Tagap UTSW 17 8,145,770 (GRCm39) critical splice donor site probably null
R8549:Tagap UTSW 17 8,152,797 (GRCm39) missense probably benign 0.36
R8747:Tagap UTSW 17 8,147,602 (GRCm39) missense probably damaging 1.00
R9103:Tagap UTSW 17 8,152,335 (GRCm39) missense probably benign 0.01
R9106:Tagap UTSW 17 8,150,280 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACATCCATGGTCTCATTTGGATC -3'
(R):5'- GGAGGGCCCATCATTTAGAG -3'

Sequencing Primer
(F):5'- CCATGGTCTCATTTGGATCTTGGC -3'
(R):5'- GAGGGCCCATCATTTAGAGTATATTG -3'
Posted On 2014-12-04