Incidental Mutation 'R7857:Trps1'
ID 607303
Institutional Source Beutler Lab
Gene Symbol Trps1
Ensembl Gene ENSMUSG00000038679
Gene Name transcriptional repressor GATA binding 1
Synonyms D15Ertd586e, trichorhinophalangeal syndrome I (human)
MMRRC Submission 045910-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7857 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 50518148-50753859 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 50524401 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 1176 (R1176S)
Ref Sequence ENSEMBL: ENSMUSP00000139017 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077935] [ENSMUST00000165201] [ENSMUST00000183757] [ENSMUST00000183997] [ENSMUST00000184458] [ENSMUST00000184885]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000077935
AA Change: R1172S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000077089
Gene: ENSMUSG00000038679
AA Change: R1172S

DomainStartEndE-ValueType
ZnF_C2H2 222 247 1.41e0 SMART
ZnF_C2H2 333 358 4.45e0 SMART
ZnF_C2H2 434 459 1.31e2 SMART
ZnF_C2H2 523 554 1.93e2 SMART
low complexity region 597 602 N/A INTRINSIC
ZnF_C2H2 614 637 8.67e-1 SMART
ZnF_C2H2 666 689 2.29e0 SMART
ZnF_C2H2 692 715 8.22e-2 SMART
low complexity region 766 779 N/A INTRINSIC
ZnF_GATA 890 940 3.95e-16 SMART
low complexity region 1050 1062 N/A INTRINSIC
ZnF_C2H2 1215 1237 4.34e0 SMART
ZnF_C2H2 1243 1267 5.72e-1 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000165201
AA Change: R1172S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000129779
Gene: ENSMUSG00000038679
AA Change: R1172S

DomainStartEndE-ValueType
ZnF_C2H2 222 247 1.41e0 SMART
ZnF_C2H2 333 358 4.45e0 SMART
ZnF_C2H2 434 459 1.31e2 SMART
ZnF_C2H2 523 554 1.93e2 SMART
low complexity region 597 602 N/A INTRINSIC
ZnF_C2H2 614 637 8.67e-1 SMART
ZnF_C2H2 666 689 2.29e0 SMART
ZnF_C2H2 692 715 8.22e-2 SMART
low complexity region 766 779 N/A INTRINSIC
ZnF_GATA 890 940 3.95e-16 SMART
low complexity region 1050 1062 N/A INTRINSIC
ZnF_C2H2 1215 1237 4.34e0 SMART
ZnF_C2H2 1243 1267 5.72e-1 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000183757
AA Change: R1176S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000139017
Gene: ENSMUSG00000038679
AA Change: R1176S

DomainStartEndE-ValueType
ZnF_C2H2 226 251 1.41e0 SMART
ZnF_C2H2 337 362 4.45e0 SMART
ZnF_C2H2 438 463 1.31e2 SMART
ZnF_C2H2 527 558 1.93e2 SMART
low complexity region 601 606 N/A INTRINSIC
ZnF_C2H2 618 641 8.67e-1 SMART
ZnF_C2H2 670 693 2.29e0 SMART
ZnF_C2H2 696 719 8.22e-2 SMART
low complexity region 770 783 N/A INTRINSIC
ZnF_GATA 894 944 3.95e-16 SMART
low complexity region 1054 1066 N/A INTRINSIC
ZnF_C2H2 1219 1241 4.34e0 SMART
ZnF_C2H2 1247 1271 5.72e-1 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000183997
AA Change: R987S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000139115
Gene: ENSMUSG00000038679
AA Change: R987S

DomainStartEndE-ValueType
ZnF_C2H2 226 251 1.41e0 SMART
ZnF_C2H2 337 362 4.45e0 SMART
ZnF_C2H2 470 493 2.29e0 SMART
ZnF_C2H2 496 519 8.22e-2 SMART
low complexity region 570 583 N/A INTRINSIC
ZnF_GATA 705 755 3.95e-16 SMART
low complexity region 865 877 N/A INTRINSIC
ZnF_C2H2 1030 1052 4.34e0 SMART
ZnF_C2H2 1058 1082 5.72e-1 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000184458
AA Change: R885S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000139063
Gene: ENSMUSG00000038679
AA Change: R885S

DomainStartEndE-ValueType
ZnF_C2H2 46 71 4.45e0 SMART
ZnF_C2H2 147 172 1.31e2 SMART
ZnF_C2H2 236 267 1.93e2 SMART
low complexity region 310 315 N/A INTRINSIC
ZnF_C2H2 327 350 8.67e-1 SMART
ZnF_C2H2 379 402 2.29e0 SMART
ZnF_C2H2 405 428 8.22e-2 SMART
low complexity region 479 492 N/A INTRINSIC
ZnF_GATA 603 653 3.95e-16 SMART
low complexity region 763 775 N/A INTRINSIC
ZnF_C2H2 928 950 4.34e0 SMART
ZnF_C2H2 956 980 5.72e-1 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000184885
AA Change: R926S

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000138905
Gene: ENSMUSG00000038679
AA Change: R926S

DomainStartEndE-ValueType
ZnF_C2H2 176 201 1.41e0 SMART
ZnF_C2H2 287 312 4.45e0 SMART
ZnF_C2H2 420 443 2.29e0 SMART
ZnF_C2H2 446 469 8.22e-2 SMART
low complexity region 520 533 N/A INTRINSIC
ZnF_GATA 644 694 3.95e-16 SMART
low complexity region 804 816 N/A INTRINSIC
ZnF_C2H2 969 991 4.34e0 SMART
ZnF_C2H2 997 1021 5.72e-1 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transcription factor that represses GATA-regulated genes and binds to a dynein light chain protein. Binding of the encoded protein to the dynein light chain protein affects binding to GATA consensus sequences and suppresses its transcriptional activity. Defects in this gene are a cause of tricho-rhino-phalangeal syndrome (TRPS) types I-III. [provided by RefSeq, Jul 2008]
PHENOTYPE: Newborn mice homozygous for a knock-out allele exhibit craniofacial and hair anomalies and die of respiratory failure due to thoracic spine and rib defects. Mice homozygous for a reporter allele show additional defects in chondrocyte proliferation and apoptosis as well as reduced nephron formation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam6b A T 12: 113,454,104 (GRCm39) N307I probably benign Het
Ahnak G A 19: 8,984,832 (GRCm39) V2039M probably damaging Het
Arhgef40 T A 14: 52,226,212 (GRCm39) H85Q probably damaging Het
Ash1l T A 3: 88,891,616 (GRCm39) L1165* probably null Het
Cck A G 9: 121,322,514 (GRCm39) W100R probably damaging Het
Cdon A G 9: 35,367,908 (GRCm39) R268G possibly damaging Het
Cldn12 T C 5: 5,558,209 (GRCm39) T73A probably benign Het
Cnot1 ACG A 8: 96,472,275 (GRCm39) probably null Het
Ctnnd2 A T 15: 30,620,076 (GRCm39) T143S probably benign Het
Cyp2b13 T A 7: 25,788,153 (GRCm39) L427Q possibly damaging Het
Dnah3 A T 7: 119,550,927 (GRCm39) Y152N probably damaging Het
Dsg1b A T 18: 20,529,520 (GRCm39) M322L probably benign Het
Efhc1 T C 1: 21,045,226 (GRCm39) M414T probably benign Het
Elp3 G A 14: 65,800,759 (GRCm39) T302M probably benign Het
Entpd6 T C 2: 150,607,473 (GRCm39) probably null Het
Epb41l4a G T 18: 34,139,098 (GRCm39) C13* probably null Het
Ephb6 T C 6: 41,590,331 (GRCm39) S28P probably benign Het
Fbxo21 T C 5: 118,126,878 (GRCm39) S210P probably benign Het
Gapvd1 T A 2: 34,619,079 (GRCm39) E98V probably benign Het
Gcdh A G 8: 85,619,093 (GRCm39) V157A probably damaging Het
Gm10638 G T 8: 87,472,891 (GRCm39) R188L unknown Het
Grk3 T C 5: 113,109,427 (GRCm39) T177A unknown Het
Gsc T G 12: 104,438,424 (GRCm39) E148A probably damaging Het
Hacd4 C T 4: 88,355,702 (GRCm39) G61E probably damaging Het
Herc3 G A 6: 58,820,637 (GRCm39) W7* probably null Het
Il1rl2 T C 1: 40,366,642 (GRCm39) Y59H probably benign Het
Irag1 T A 7: 110,522,742 (GRCm39) K234* probably null Het
Kif1c A G 11: 70,619,103 (GRCm39) T913A probably benign Het
Lipg C T 18: 75,078,891 (GRCm39) G454R probably damaging Het
Lrrc74a A G 12: 86,788,485 (GRCm39) D155G probably benign Het
Ltf A T 9: 110,851,444 (GRCm39) I137F probably benign Het
Med19 T A 2: 84,515,969 (GRCm39) M166K probably damaging Het
Mei1 A T 15: 81,976,918 (GRCm39) Y167F not run Het
Ncaph A C 2: 126,946,165 (GRCm39) D724E probably damaging Het
Neb T A 2: 52,112,996 (GRCm39) D4266V probably damaging Het
Npffr1 G T 10: 61,449,765 (GRCm39) W13L probably benign Het
Or51b6 A T 7: 103,555,817 (GRCm39) H54L Het
Pcdha12 A T 18: 37,155,468 (GRCm39) D729V probably benign Het
Pcdha7 A T 18: 37,108,892 (GRCm39) E639V probably damaging Het
Pcdhb18 A T 18: 37,624,364 (GRCm39) M565L probably benign Het
Plcd3 A T 11: 102,968,760 (GRCm39) D310E probably benign Het
Pmm2 C G 16: 8,460,632 (GRCm39) Q29E probably benign Het
Poli T G 18: 70,642,225 (GRCm39) E658D probably benign Het
Prss22 G A 17: 24,212,853 (GRCm39) R295C probably damaging Het
Psg26 A G 7: 18,212,215 (GRCm39) I380T possibly damaging Het
Reep5 A T 18: 34,505,521 (GRCm39) V50E possibly damaging Het
Rfx7 A G 9: 72,500,605 (GRCm39) T122A possibly damaging Het
Robo1 A G 16: 72,767,099 (GRCm39) N424D probably damaging Het
Slc4a7 T C 14: 14,772,624 (GRCm38) V711A probably benign Het
Smc4 T C 3: 68,940,552 (GRCm39) V1162A possibly damaging Het
Snta1 A T 2: 154,225,817 (GRCm39) L189H probably benign Het
Tmem121 C T 12: 113,152,696 (GRCm39) R305C possibly damaging Het
Tmem68 A G 4: 3,551,825 (GRCm39) V271A probably damaging Het
Tmx4 T G 2: 134,481,582 (GRCm39) M114L probably benign Het
Usp21 A G 1: 171,114,335 (GRCm39) L63P probably benign Het
Vmn2r84 T A 10: 130,226,738 (GRCm39) M367L probably benign Het
Wbp2nl A G 15: 82,190,273 (GRCm39) N67S probably benign Het
Wdr35 T C 12: 9,058,113 (GRCm39) probably null Het
Zfp236 G A 18: 82,686,726 (GRCm39) Q271* probably null Het
Zfp831 T C 2: 174,547,035 (GRCm39) V1406A probably benign Het
Zfp934 G A 13: 62,665,361 (GRCm39) H459Y Het
Other mutations in Trps1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00420:Trps1 APN 15 50,710,266 (GRCm39) missense probably benign 0.07
IGL00497:Trps1 APN 15 50,524,703 (GRCm39) missense possibly damaging 0.91
IGL00558:Trps1 APN 15 50,524,481 (GRCm39) missense probably damaging 1.00
IGL01325:Trps1 APN 15 50,710,210 (GRCm39) missense probably benign 0.40
IGL02132:Trps1 APN 15 50,685,674 (GRCm39) missense probably damaging 1.00
IGL02631:Trps1 APN 15 50,709,417 (GRCm39) missense probably damaging 1.00
IGL02740:Trps1 APN 15 50,709,935 (GRCm39) missense probably damaging 1.00
IGL02821:Trps1 APN 15 50,524,273 (GRCm39) missense probably damaging 1.00
IGL03096:Trps1 APN 15 50,709,875 (GRCm39) missense probably benign
F5770:Trps1 UTSW 15 50,694,973 (GRCm39) missense probably damaging 1.00
R0050:Trps1 UTSW 15 50,628,921 (GRCm39) missense probably benign 0.18
R0244:Trps1 UTSW 15 50,528,139 (GRCm39) missense probably damaging 1.00
R0377:Trps1 UTSW 15 50,695,174 (GRCm39) nonsense probably null
R0599:Trps1 UTSW 15 50,695,256 (GRCm39) nonsense probably null
R0848:Trps1 UTSW 15 50,524,945 (GRCm39) missense possibly damaging 0.54
R1744:Trps1 UTSW 15 50,524,609 (GRCm39) missense probably damaging 1.00
R1830:Trps1 UTSW 15 50,524,532 (GRCm39) missense probably damaging 0.99
R2083:Trps1 UTSW 15 50,685,701 (GRCm39) missense probably damaging 1.00
R2167:Trps1 UTSW 15 50,695,126 (GRCm39) missense possibly damaging 0.94
R2267:Trps1 UTSW 15 50,685,794 (GRCm39) missense probably damaging 1.00
R2314:Trps1 UTSW 15 50,524,742 (GRCm39) missense probably damaging 1.00
R3735:Trps1 UTSW 15 50,709,456 (GRCm39) missense possibly damaging 0.94
R4133:Trps1 UTSW 15 50,694,783 (GRCm39) missense probably damaging 1.00
R4223:Trps1 UTSW 15 50,710,044 (GRCm39) missense probably benign
R4280:Trps1 UTSW 15 50,709,478 (GRCm39) missense probably benign 0.00
R4566:Trps1 UTSW 15 50,695,074 (GRCm39) missense probably damaging 1.00
R4810:Trps1 UTSW 15 50,685,692 (GRCm39) missense probably benign 0.14
R4828:Trps1 UTSW 15 50,524,073 (GRCm39) makesense probably null
R4838:Trps1 UTSW 15 50,690,712 (GRCm39) missense probably benign 0.05
R4852:Trps1 UTSW 15 50,709,705 (GRCm39) missense probably damaging 1.00
R5001:Trps1 UTSW 15 50,524,703 (GRCm39) missense possibly damaging 0.91
R5311:Trps1 UTSW 15 50,528,156 (GRCm39) missense probably damaging 1.00
R5463:Trps1 UTSW 15 50,695,286 (GRCm39) nonsense probably null
R5677:Trps1 UTSW 15 50,709,504 (GRCm39) missense probably damaging 1.00
R5691:Trps1 UTSW 15 50,690,700 (GRCm39) missense probably benign
R6432:Trps1 UTSW 15 50,694,793 (GRCm39) missense probably damaging 0.96
R6528:Trps1 UTSW 15 50,685,823 (GRCm39) missense probably benign 0.01
R6594:Trps1 UTSW 15 50,694,351 (GRCm39) missense probably damaging 0.99
R6827:Trps1 UTSW 15 50,685,959 (GRCm39) missense probably benign 0.14
R6862:Trps1 UTSW 15 50,695,001 (GRCm39) critical splice donor site probably null
R6912:Trps1 UTSW 15 50,685,694 (GRCm39) missense possibly damaging 0.92
R7151:Trps1 UTSW 15 50,685,793 (GRCm39) missense possibly damaging 0.95
R7846:Trps1 UTSW 15 50,695,273 (GRCm39) missense probably damaging 0.99
R7986:Trps1 UTSW 15 50,753,019 (GRCm39) missense probably benign 0.00
R7986:Trps1 UTSW 15 50,525,132 (GRCm39) missense probably damaging 1.00
R8744:Trps1 UTSW 15 50,524,642 (GRCm39) missense probably damaging 1.00
R8838:Trps1 UTSW 15 50,753,007 (GRCm39) missense probably benign 0.01
R8859:Trps1 UTSW 15 50,685,769 (GRCm39) missense possibly damaging 0.77
R8935:Trps1 UTSW 15 50,752,344 (GRCm39) nonsense probably null
R9044:Trps1 UTSW 15 50,686,003 (GRCm39) missense probably benign 0.11
R9142:Trps1 UTSW 15 50,524,658 (GRCm39) missense probably damaging 0.98
R9211:Trps1 UTSW 15 50,694,840 (GRCm39) missense probably damaging 1.00
R9283:Trps1 UTSW 15 50,694,447 (GRCm39) missense probably damaging 1.00
R9363:Trps1 UTSW 15 50,524,676 (GRCm39) missense probably damaging 1.00
R9402:Trps1 UTSW 15 50,709,652 (GRCm39) missense probably damaging 1.00
R9562:Trps1 UTSW 15 50,524,657 (GRCm39) missense probably damaging 1.00
R9647:Trps1 UTSW 15 50,524,944 (GRCm39) missense probably benign 0.09
R9803:Trps1 UTSW 15 50,710,090 (GRCm39) missense possibly damaging 0.94
V7580:Trps1 UTSW 15 50,694,973 (GRCm39) missense probably damaging 1.00
V7581:Trps1 UTSW 15 50,694,973 (GRCm39) missense probably damaging 1.00
V7583:Trps1 UTSW 15 50,694,973 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCACCATGGCAACTCATATGC -3'
(R):5'- GAGTGAAGCTGATTGGCTACG -3'

Sequencing Primer
(F):5'- TGGCAACTCATATGCAAAGC -3'
(R):5'- GCTACGGTTCTGGAGTAAATATAAGC -3'
Posted On 2019-12-20