Incidental Mutation 'IGL02821:Trps1'
ID |
361012 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Trps1
|
Ensembl Gene |
ENSMUSG00000038679 |
Gene Name |
transcriptional repressor GATA binding 1 |
Synonyms |
D15Ertd586e, trichorhinophalangeal syndrome I (human) |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL02821
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
50518148-50753859 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 50524273 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Methionine
at position 969
(T969M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000138905
(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: T1215M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000077089 Gene: ENSMUSG00000038679 AA Change: T1215M
Domain | Start | End | E-Value | Type |
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: T1215M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000129779 Gene: ENSMUSG00000038679 AA Change: T1215M
Domain | Start | End | E-Value | Type |
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: T1219M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000139017 Gene: ENSMUSG00000038679 AA Change: T1219M
Domain | Start | End | E-Value | Type |
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: T1030M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000139115 Gene: ENSMUSG00000038679 AA Change: T1030M
Domain | Start | End | E-Value | Type |
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: T928M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000139063 Gene: ENSMUSG00000038679 AA Change: T928M
Domain | Start | End | E-Value | Type |
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: T969M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000138905 Gene: ENSMUSG00000038679 AA Change: T969M
Domain | Start | End | E-Value | Type |
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 |
|
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930474N05Rik |
T |
C |
14: 35,818,473 (GRCm39) |
L157S |
probably benign |
Het |
Adam15 |
A |
G |
3: 89,252,663 (GRCm39) |
S309P |
probably damaging |
Het |
Agtpbp1 |
A |
T |
13: 59,630,415 (GRCm39) |
M772K |
possibly damaging |
Het |
Ankfn1 |
T |
C |
11: 89,282,442 (GRCm39) |
M402V |
probably benign |
Het |
Anln |
G |
A |
9: 22,269,418 (GRCm39) |
T822I |
possibly damaging |
Het |
Atp13a4 |
A |
G |
16: 29,260,125 (GRCm39) |
V589A |
probably benign |
Het |
Ccm2l |
C |
T |
2: 152,909,779 (GRCm39) |
L44F |
probably damaging |
Het |
Cd177 |
A |
T |
7: 24,443,818 (GRCm39) |
L760Q |
probably damaging |
Het |
Cd177 |
G |
T |
7: 24,443,819 (GRCm39) |
L760M |
probably damaging |
Het |
Cfap69 |
T |
C |
5: 5,714,017 (GRCm39) |
E5G |
probably benign |
Het |
Col4a1 |
G |
A |
8: 11,271,375 (GRCm39) |
T753I |
probably benign |
Het |
Col6a3 |
T |
A |
1: 90,731,600 (GRCm39) |
D1551V |
probably damaging |
Het |
Ddx20 |
A |
G |
3: 105,586,593 (GRCm39) |
V584A |
probably benign |
Het |
Dop1a |
C |
A |
9: 86,402,209 (GRCm39) |
H1136Q |
probably benign |
Het |
Egf |
T |
C |
3: 129,496,128 (GRCm39) |
E329G |
probably damaging |
Het |
Eif3c |
A |
G |
7: 126,157,831 (GRCm39) |
V337A |
probably benign |
Het |
Eif3f |
G |
T |
7: 108,533,881 (GRCm39) |
|
probably benign |
Het |
Eif3f |
C |
T |
7: 108,533,882 (GRCm39) |
|
probably benign |
Het |
Evc |
T |
A |
5: 37,483,740 (GRCm39) |
I187F |
probably benign |
Het |
Fam117a |
T |
G |
11: 95,254,815 (GRCm39) |
|
probably benign |
Het |
H2-M10.4 |
A |
T |
17: 36,771,323 (GRCm39) |
V285E |
probably damaging |
Het |
Hps4 |
G |
T |
5: 112,523,307 (GRCm39) |
M608I |
probably benign |
Het |
Idh3b |
T |
A |
2: 130,126,321 (GRCm39) |
N6I |
probably benign |
Het |
Itgam |
A |
T |
7: 127,675,281 (GRCm39) |
M169L |
probably damaging |
Het |
Kcnn3 |
G |
A |
3: 89,570,029 (GRCm39) |
G614D |
possibly damaging |
Het |
Kcnn3 |
A |
G |
3: 89,428,281 (GRCm39) |
N169S |
possibly damaging |
Het |
Mn1 |
A |
T |
5: 111,569,717 (GRCm39) |
K1229M |
probably damaging |
Het |
Ms4a19 |
A |
G |
19: 11,118,897 (GRCm39) |
*71Q |
probably null |
Het |
Nckap5 |
A |
G |
1: 125,955,553 (GRCm39) |
M401T |
probably damaging |
Het |
Or1af1 |
T |
C |
2: 37,110,112 (GRCm39) |
S204P |
probably damaging |
Het |
Or8c13 |
T |
C |
9: 38,091,964 (GRCm39) |
N52D |
possibly damaging |
Het |
Or8d4 |
T |
G |
9: 40,038,561 (GRCm39) |
E232A |
probably benign |
Het |
Pttg1ip2 |
G |
A |
5: 5,502,039 (GRCm39) |
Q138* |
probably null |
Het |
Sim2 |
G |
A |
16: 93,898,047 (GRCm39) |
V94M |
probably damaging |
Het |
Slc46a3 |
G |
A |
5: 147,822,822 (GRCm39) |
T340M |
probably benign |
Het |
Ssc4d |
A |
G |
5: 135,994,923 (GRCm39) |
|
probably benign |
Het |
Trav12-1 |
A |
G |
14: 53,775,916 (GRCm39) |
D22G |
probably damaging |
Het |
Trgv4 |
T |
A |
13: 19,369,422 (GRCm39) |
D55E |
possibly damaging |
Het |
Ttn |
T |
A |
2: 76,719,894 (GRCm39) |
|
probably benign |
Het |
Ubqln4 |
A |
G |
3: 88,470,458 (GRCm39) |
N310S |
probably benign |
Het |
Vapa |
T |
C |
17: 65,889,756 (GRCm39) |
|
probably benign |
Het |
Vmn1r65 |
T |
C |
7: 6,011,893 (GRCm39) |
T114A |
possibly damaging |
Het |
Vps13d |
T |
C |
4: 144,875,332 (GRCm39) |
E1725G |
probably damaging |
Het |
Vps53 |
A |
G |
11: 76,027,143 (GRCm39) |
|
probably benign |
Het |
Xkr9 |
T |
C |
1: 13,742,799 (GRCm39) |
L28P |
probably damaging |
Het |
|
Other mutations in Trps1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
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 |
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 |
|
Posted On |
2015-12-18 |