Incidental Mutation 'R8935:Trps1'
ID 680597
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 068778-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8935 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 50518148-50753859 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 50752344 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 2 (Q2*)
Ref Sequence ENSEMBL: ENSMUSP00000139115 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077935] [ENSMUST00000165201] [ENSMUST00000183757] [ENSMUST00000183997] [ENSMUST00000184458] [ENSMUST00000185183]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000077935
SMART Domains Protein: ENSMUSP00000077089
Gene: ENSMUSG00000038679

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
SMART Domains Protein: ENSMUSP00000129779
Gene: ENSMUSG00000038679

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 null
Transcript: ENSMUST00000183757
AA Change: Q2*
SMART Domains Protein: ENSMUSP00000139017
Gene: ENSMUSG00000038679
AA Change: Q2*

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 null
Transcript: ENSMUST00000183997
AA Change: Q2*
SMART Domains Protein: ENSMUSP00000139115
Gene: ENSMUSG00000038679
AA Change: Q2*

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
SMART Domains Protein: ENSMUSP00000139063
Gene: ENSMUSG00000038679

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: ENSMUST00000185183
SMART Domains Protein: ENSMUSP00000138967
Gene: ENSMUSG00000038679

DomainStartEndE-ValueType
ZnF_C2H2 222 247 1.41e0 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (61/61)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030J22Rik G T 8: 117,698,181 (GRCm39) Q309K probably benign Het
Adam20 T C 8: 41,247,989 (GRCm39) V33A probably benign Het
Ank T C 15: 27,591,112 (GRCm39) V417A probably damaging Het
Arhgef17 C T 7: 100,527,324 (GRCm39) V779I probably benign Het
Atp6v0a1 T A 11: 100,929,519 (GRCm39) F440I possibly damaging Het
Brca2 T G 5: 150,492,446 (GRCm39) S3154A possibly damaging Het
Cdc27 T C 11: 104,398,026 (GRCm39) E778G probably damaging Het
Cep128 C T 12: 91,233,770 (GRCm39) E433K probably damaging Het
Cep192 C T 18: 67,995,543 (GRCm39) T970I probably damaging Het
Chd2 T C 7: 73,153,210 (GRCm39) T249A possibly damaging Het
Cpd C T 11: 76,731,295 (GRCm39) G304S probably damaging Het
Cpsf7 T A 19: 10,509,345 (GRCm39) Y85* probably null Het
Csf3r T A 4: 125,937,200 (GRCm39) S695T probably benign Het
Cyp20a1 A G 1: 60,410,473 (GRCm39) Q258R probably damaging Het
Ddi2 A T 4: 141,412,600 (GRCm39) L104Q probably damaging Het
Dpp8 T C 9: 64,983,066 (GRCm39) S733P possibly damaging Het
Efhd1 A G 1: 87,217,219 (GRCm39) D112G probably damaging Het
Elapor2 C T 5: 9,491,764 (GRCm39) T708M probably damaging Het
Fgfr3 A C 5: 33,892,810 (GRCm39) D752A probably damaging Het
Fmod C A 1: 133,968,586 (GRCm39) H209N probably benign Het
Gde1 C T 7: 118,297,914 (GRCm39) E101K possibly damaging Het
Gldc C T 19: 30,109,093 (GRCm39) R615Q probably benign Het
Gli2 T C 1: 118,764,122 (GRCm39) E1343G probably damaging Het
Gm10800 A AC 2: 98,497,378 (GRCm39) probably null Het
Gm4847 A G 1: 166,469,789 (GRCm39) Y95H probably damaging Het
Grid1 G A 14: 35,043,664 (GRCm39) D340N probably damaging Het
Gtpbp3 A G 8: 71,945,181 (GRCm39) probably null Het
Haspin A G 11: 73,026,890 (GRCm39) F733S probably damaging Het
Hgh1 C G 15: 76,254,592 (GRCm39) R323G probably damaging Het
Idh1 A T 1: 65,204,378 (GRCm39) I244N probably damaging Het
Idh2 T C 7: 79,764,946 (GRCm39) T27A probably benign Het
Igkv4-69 T C 6: 69,260,912 (GRCm39) T72A possibly damaging Het
Lmntd1 A G 6: 145,489,229 (GRCm39) Y11H probably benign Het
Myt1l T C 12: 29,877,243 (GRCm39) M298T unknown Het
Neb T C 2: 52,141,780 (GRCm39) D3009G probably damaging Het
Nfya A T 17: 48,700,294 (GRCm39) probably benign Het
Nsun2 A G 13: 69,767,586 (GRCm39) D180G probably damaging Het
Or10ag60 A G 2: 87,438,421 (GRCm39) T230A possibly damaging Het
Or4k50-ps1 A T 2: 111,522,244 (GRCm39) Q127L unknown Het
Osbpl6 T C 2: 76,379,800 (GRCm39) V130A possibly damaging Het
Prss44 T A 9: 110,645,527 (GRCm39) I94N probably damaging Het
Rbm6 C T 9: 107,677,945 (GRCm39) V15I probably benign Het
Rdh19 C T 10: 127,685,929 (GRCm39) L14F possibly damaging Het
Rtkn T C 6: 83,115,196 (GRCm39) L14P probably damaging Het
Ryr3 A T 2: 112,508,402 (GRCm39) N3405K probably benign Het
Scp2 T C 4: 107,950,072 (GRCm39) E179G probably damaging Het
Sema3e A T 5: 14,282,127 (GRCm39) K421I probably damaging Het
Sorcs2 C T 5: 36,193,202 (GRCm39) V755M possibly damaging Het
Spef2 T C 15: 9,607,436 (GRCm39) I1328V probably damaging Het
Speg A T 1: 75,399,250 (GRCm39) K2232N probably benign Het
St7l A G 3: 104,778,204 (GRCm39) I114V probably damaging Het
Stkld1 C T 2: 26,833,941 (GRCm39) Q143* probably null Het
Stox2 T C 8: 47,645,895 (GRCm39) T586A possibly damaging Het
Supt20 A G 3: 54,634,988 (GRCm39) probably null Het
Tectb G T 19: 55,183,132 (GRCm39) V338L probably benign Het
Tiam1 T C 16: 89,681,821 (GRCm39) N386D probably damaging Het
Usp36 C T 11: 118,167,657 (GRCm39) probably null Het
Vmn1r198 C T 13: 22,539,092 (GRCm39) Q104* probably null Het
Vmn1r38 T C 6: 66,753,979 (GRCm39) T46A probably benign Het
Vmn2r110 A G 17: 20,803,957 (GRCm39) V206A probably benign Het
Vmn2r62 T A 7: 42,437,791 (GRCm39) D231V probably benign Het
Zfp143 T C 7: 109,669,736 (GRCm39) L55P 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
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'- ATACCAGGAGAGGATGCCACAC -3'
(R):5'- TCAGGAGGGTCAAGTTCAGC -3'

Sequencing Primer
(F):5'- GAGAGGATGCCACACTCTCTC -3'
(R):5'- AGAAGTTTCAGGCCGGTGC -3'
Posted On 2021-08-31