Incidental Mutation 'R9283:Trps1'
ID 703773
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
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9283 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 50518148-50753859 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 50694447 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 616 (V616A)
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 damaging
Transcript: ENSMUST00000077935
AA Change: V612A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000077089
Gene: ENSMUSG00000038679
AA Change: V612A

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: V612A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000129779
Gene: ENSMUSG00000038679
AA Change: V612A

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: ENSMUST00000183421
SMART Domains Protein: ENSMUSP00000138835
Gene: ENSMUSG00000038679

DomainStartEndE-ValueType
ZnF_C2H2 26 49 8.22e-2 SMART
low complexity region 100 113 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000183757
AA Change: V616A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000139017
Gene: ENSMUSG00000038679
AA Change: V616A

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
SMART Domains Protein: ENSMUSP00000139115
Gene: ENSMUSG00000038679

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: V325A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000139063
Gene: ENSMUSG00000038679
AA Change: V325A

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
SMART Domains Protein: ENSMUSP00000138905
Gene: ENSMUSG00000038679

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: 99.1%
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aaas A G 15: 102,258,499 (GRCm39) V47A probably benign Het
Aamdc A G 7: 97,199,842 (GRCm39) V140A probably benign Het
Acsm3 T A 7: 119,373,115 (GRCm39) M206K possibly damaging Het
Adprhl1 T C 8: 13,273,540 (GRCm39) T1073A probably benign Het
Aoc1 A G 6: 48,882,261 (GRCm39) I46V probably benign Het
Ap4b1 A G 3: 103,722,259 (GRCm39) S246G probably damaging Het
Bach1 A G 16: 87,516,211 (GRCm39) T251A probably benign Het
Cry2 A G 2: 92,244,249 (GRCm39) L308P probably damaging Het
Daam1 G T 12: 72,035,696 (GRCm39) G964C probably damaging Het
Ddx10 T G 9: 53,146,656 (GRCm39) N189H probably benign Het
Dlg4 T A 11: 69,922,617 (GRCm39) C241* probably null Het
Dpy19l1 G T 9: 24,332,412 (GRCm39) Y489* probably null Het
E2f4 C A 8: 106,024,395 (GRCm39) A8E probably benign Het
Gm3486 T C 14: 41,210,268 (GRCm39) N71S possibly damaging Het
Ighv1-23 A G 12: 114,728,225 (GRCm39) W66R probably damaging Het
Kcnh5 A G 12: 75,023,307 (GRCm39) L587P probably damaging Het
Kctd16 T C 18: 40,392,233 (GRCm39) Y274H possibly damaging Het
Kif16b T A 2: 142,554,900 (GRCm39) M633L probably benign Het
Kif23 T C 9: 61,852,651 (GRCm39) N21S probably benign Het
Lamtor3 C T 3: 137,633,123 (GRCm39) R85C probably benign Het
Lin9 A T 1: 180,493,493 (GRCm39) T240S probably damaging Het
Mtus1 C A 8: 41,536,519 (GRCm39) G399V probably benign Het
Mup8 C T 4: 60,221,903 (GRCm39) V77I probably benign Het
Myo5b C T 18: 74,777,149 (GRCm39) A403V probably benign Het
Naf1 C A 8: 67,313,503 (GRCm39) A162E unknown Het
Nat10 G A 2: 103,556,092 (GRCm39) Q910* probably null Het
Nos1 G C 5: 118,017,402 (GRCm39) R255P probably benign Het
Npas2 A G 1: 39,326,689 (GRCm39) K58R probably damaging Het
Nsd2 A T 5: 34,001,058 (GRCm39) I192F probably benign Het
Nup98 C A 7: 101,788,037 (GRCm39) R1011L probably benign Het
Ophn1 G A X: 97,622,145 (GRCm39) T668M probably benign Het
Or10a3 C T 7: 108,480,289 (GRCm39) A175T probably benign Het
Or2d4 G A 7: 106,543,806 (GRCm39) T134I probably benign Het
Or5b105 C A 19: 13,079,821 (GRCm39) M282I probably damaging Het
Or5b12b T A 19: 12,861,961 (GRCm39) C239S probably damaging Het
Or7e177 A G 9: 20,212,419 (GRCm39) K309E possibly damaging Het
Pcdh17 C T 14: 84,685,593 (GRCm39) P687S possibly damaging Het
Pdpr C T 8: 111,856,268 (GRCm39) R664W possibly damaging Het
Peg10 GC GCTCC 6: 4,756,452 (GRCm39) probably benign Het
Pfas A T 11: 68,884,708 (GRCm39) V498E probably damaging Het
Pfpl A T 19: 12,406,220 (GRCm39) Y157F probably damaging Het
Piezo2 A T 18: 63,157,637 (GRCm39) F2358I probably damaging Het
Pip5k1b T C 19: 24,337,376 (GRCm39) Y304C probably damaging Het
Pls1 G A 9: 95,655,642 (GRCm39) A370V probably benign Het
Polm A T 11: 5,779,050 (GRCm39) L490H probably damaging Het
Prdm5 T C 6: 65,858,060 (GRCm39) C375R probably damaging Het
Scmh1 A T 4: 120,319,337 (GRCm39) M21L probably benign Het
Sec16a C A 2: 26,313,904 (GRCm39) R449S Het
Sin3a C T 9: 57,002,717 (GRCm39) T203I probably damaging Het
Six5 A G 7: 18,829,148 (GRCm39) E196G probably damaging Het
Skint8 T C 4: 111,785,644 (GRCm39) V30A probably damaging Het
Slc2a12 G A 10: 22,540,511 (GRCm39) G122E probably damaging Het
Smim14 A G 5: 65,625,780 (GRCm39) C11R probably damaging Het
Sorbs2 T G 8: 46,248,774 (GRCm39) V675G probably benign Het
Tanc1 T C 2: 59,630,174 (GRCm39) I718T probably damaging Het
Tead4 A G 6: 128,205,592 (GRCm39) L370P probably damaging Het
Tnrc6c A G 11: 117,591,630 (GRCm39) K15E unknown Het
Trim55 T G 3: 19,699,612 (GRCm39) probably null Het
Trpm1 A T 7: 63,873,623 (GRCm39) N510I probably benign Het
Usp42 A T 5: 143,705,264 (GRCm39) V405E probably damaging Het
Zfp11 A T 5: 129,734,748 (GRCm39) S238T probably damaging Het
Zfp608 T C 18: 55,030,913 (GRCm39) H1009R possibly 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
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
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'- TTCCACCTGGGTTATAAAATCGC -3'
(R):5'- CCATGGCCCTGATGTGATTG -3'

Sequencing Primer
(F):5'- CACCTGGGTTATAAAATCGCATTTGG -3'
(R):5'- GGGTCCACTTCTCCGTCATTATCAG -3'
Posted On 2022-03-25