Incidental Mutation 'R9044:Trps1'
ID 687944
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 068871-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9044 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 50518148-50753859 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 50686003 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 724 (E724G)
Ref Sequence ENSEMBL: ENSMUSP00000139017 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077935] [ENSMUST00000165201] [ENSMUST00000183421] [ENSMUST00000183757] [ENSMUST00000183997] [ENSMUST00000184458] [ENSMUST00000184885]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000077935
AA Change: E720G

PolyPhen 2 Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000077089
Gene: ENSMUSG00000038679
AA Change: E720G

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 benign
Transcript: ENSMUST00000165201
AA Change: E720G

PolyPhen 2 Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000129779
Gene: ENSMUSG00000038679
AA Change: E720G

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 possibly damaging
Transcript: ENSMUST00000183421
AA Change: E54G

PolyPhen 2 Score 0.725 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000138835
Gene: ENSMUSG00000038679
AA Change: E54G

DomainStartEndE-ValueType
ZnF_C2H2 26 49 8.22e-2 SMART
low complexity region 100 113 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000183757
AA Change: E724G

PolyPhen 2 Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000139017
Gene: ENSMUSG00000038679
AA Change: E724G

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 benign
Transcript: ENSMUST00000183997
AA Change: E524G

PolyPhen 2 Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000139115
Gene: ENSMUSG00000038679
AA Change: E524G

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 benign
Transcript: ENSMUST00000184458
AA Change: E433G

PolyPhen 2 Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000139063
Gene: ENSMUSG00000038679
AA Change: E433G

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 benign
Transcript: ENSMUST00000184885
AA Change: E474G

PolyPhen 2 Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000138905
Gene: ENSMUSG00000038679
AA Change: E474G

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: 99.9%
  • 10x: 99.5%
  • 20x: 98.1%
Validation Efficiency 95% (62/65)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610008E11Rik A T 10: 78,902,314 (GRCm39) Y667* probably null Het
Acacb A G 5: 114,373,578 (GRCm39) H1869R probably benign Het
Adgrb1 A G 15: 74,441,748 (GRCm39) T950A possibly damaging Het
Alms1 T A 6: 85,673,735 (GRCm39) L3110Q probably damaging Het
Ambra1 A T 2: 91,740,434 (GRCm39) probably benign Het
Brpf3 A T 17: 29,025,871 (GRCm39) N315Y possibly damaging Het
Clxn A G 16: 14,738,261 (GRCm39) D142G probably damaging Het
Cpne7 C T 8: 123,856,951 (GRCm39) P402L probably damaging Het
Cyba T A 8: 123,151,630 (GRCm39) D189V probably benign Het
Dexi A G 16: 10,321,385 (GRCm39) probably benign Het
Dnah2 C T 11: 69,420,247 (GRCm39) V156I probably benign Het
Drc7 T C 8: 95,797,077 (GRCm39) V420A probably damaging Het
Eef2k T A 7: 120,479,584 (GRCm39) V167E probably damaging Het
Eid2 T C 7: 27,968,038 (GRCm39) I220T possibly damaging Het
Fggy A C 4: 95,732,334 (GRCm39) T442P probably benign Het
Foxi3 T G 6: 70,933,683 (GRCm39) S57A probably benign Het
Foxi3 T A 6: 70,934,186 (GRCm39) probably null Het
Galntl5 C T 5: 25,415,326 (GRCm39) P286S possibly damaging Het
Gm5592 A G 7: 40,938,274 (GRCm39) K519E probably benign Het
Gse1 T A 8: 120,957,269 (GRCm39) S587T unknown Het
Kcns1 G T 2: 164,009,996 (GRCm39) F254L probably damaging Het
Kif15 A G 9: 122,840,781 (GRCm39) T23A probably benign Het
Kif16b T C 2: 142,541,577 (GRCm39) Q1241R possibly damaging Het
Lck A T 4: 129,450,098 (GRCm39) L205Q probably damaging Het
Map9 C T 3: 82,287,525 (GRCm39) A420V possibly damaging Het
Mdm2 A T 10: 117,530,960 (GRCm39) D170E Het
Mllt6 T A 11: 97,554,485 (GRCm39) C30S probably damaging Het
Muc5b T G 7: 141,411,795 (GRCm39) D1580E unknown Het
Oaf C T 9: 43,135,308 (GRCm39) A157T probably damaging Het
Or13a19 A G 7: 139,902,485 (GRCm39) probably benign Het
Or2ab1 T A 11: 58,489,126 (GRCm39) N295K possibly damaging Het
Or2n1d A T 17: 38,646,320 (GRCm39) T91S possibly damaging Het
Osbp2 T C 11: 3,667,128 (GRCm39) I8V probably damaging Het
Pcdh9 T C 14: 94,124,247 (GRCm39) Y641C probably damaging Het
Phf10 A T 17: 15,166,584 (GRCm39) C429S probably damaging Het
Plekha6 C G 1: 133,201,687 (GRCm39) P367A probably benign Het
Plekha6 C A 1: 133,201,688 (GRCm39) P367Q possibly damaging Het
Plod2 T A 9: 92,489,273 (GRCm39) I756K probably damaging Het
Plxnb2 C A 15: 89,044,566 (GRCm39) probably benign Het
Pop1 T A 15: 34,530,554 (GRCm39) M1014K possibly damaging Het
Prrt4 T C 6: 29,171,540 (GRCm39) D304G probably benign Het
Rcan2 C A 17: 44,147,245 (GRCm39) L28I probably benign Het
Rffl C T 11: 82,701,020 (GRCm39) V269I probably benign Het
Rhox3c C T X: 36,651,303 (GRCm39) probably benign Het
Ric1 C T 19: 29,577,294 (GRCm39) A1066V probably damaging Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,229,111 (GRCm39) probably benign Het
Ryr2 A T 13: 11,752,989 (GRCm39) Y1777* probably null Het
Scart2 G T 7: 139,828,010 (GRCm39) G73C probably damaging Het
Sh3tc1 T G 5: 35,854,834 (GRCm39) K1288Q possibly damaging Het
Slc10a5 A C 3: 10,399,792 (GRCm39) I289M probably damaging Het
Slc16a9 A G 10: 70,110,797 (GRCm39) T128A probably benign Het
Slc7a11 T C 3: 50,333,632 (GRCm39) H373R probably benign Het
Spesp1 A G 9: 62,180,623 (GRCm39) I95T probably benign Het
Sra1 C T 18: 36,800,946 (GRCm39) V131I probably benign Het
Stxbp5l A G 16: 37,024,930 (GRCm39) V556A possibly damaging Het
Sycp2 T C 2: 177,989,617 (GRCm39) E1414G probably damaging Het
Trac A T 14: 54,458,148 (GRCm39) K57* probably null Het
Tubgcp6 T G 15: 88,987,397 (GRCm39) D1192A possibly damaging Het
Usp48 G A 4: 137,340,996 (GRCm39) G332E probably benign Het
Vps18 T G 2: 119,128,034 (GRCm39) I952M probably damaging Het
Wdr36 T C 18: 32,970,499 (GRCm39) F20S probably damaging Het
Wdr62 C A 7: 29,962,062 (GRCm39) R450L probably benign Het
Xab2 T C 8: 3,668,641 (GRCm39) K76E probably benign Het
Zpr1 A G 9: 46,190,995 (GRCm39) D300G probably damaging 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
R7857:Trps1 UTSW 15 50,524,401 (GRCm39) missense probably damaging 1.00
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
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'- GGTCATCAGTTGAACTCTCAGTC -3'
(R):5'- TTGCATGAGAGAAGTCAGGTGC -3'

Sequencing Primer
(F):5'- GTTGAACTCTCAGTCCAGATTTTATC -3'
(R):5'- TGCATGAGGACTATTTGAGCAC -3'
Posted On 2021-11-19