Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02132:Trps1'

281028

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Trps1

Ensembl Gene

ENSMUSG00000038679

Gene Name

transcriptional repressor GATA binding 1

Synonyms

D15Ertd586e

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02132

Quality Score

Status

Chromosome

Chromosomal Location

50654752-50890463 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 50822278 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Cysteine at position 584 (S584C)

Ref Sequence

ENSEMBL: ENSMUSP00000138905 (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: S830C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000077089
Gene: ENSMUSG00000038679
AA Change: S830C

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: S830C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000129779
Gene: ENSMUSG00000038679
AA Change: S830C

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: ENSMUST00000183421
AA Change: S164C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000138835
Gene: ENSMUSG00000038679
AA Change: S164C

Domain	Start	End	E-Value	Type
ZnF_C2H2	26	49	8.22e-2	SMART
low complexity region	100	113	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000183757
AA Change: S834C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000139017
Gene: ENSMUSG00000038679
AA Change: S834C

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: S634C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000139115
Gene: ENSMUSG00000038679
AA Change: S634C

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: S543C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000139063
Gene: ENSMUSG00000038679
AA Change: S543C

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: S584C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000138905
Gene: ENSMUSG00000038679
AA Change: S584C

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921513I03Rik	G	A	10: 120,778,730		probably benign	Het
4930432E11Rik	C	T	7: 29,563,279		noncoding transcript	Het
Adcy10	T	C	1: 165,572,543	V1507A	probably damaging	Het
Ap3b2	T	A	7: 81,460,998	M1010L	unknown	Het
Bmp10	T	C	6: 87,434,148	S308P	probably benign	Het
Cnih3	C	A	1: 181,454,709	Y169*	probably null	Het
Cpsf4l	A	G	11: 113,699,859	S222P	possibly damaging	Het
Cyp2d10	G	A	15: 82,404,607		probably benign	Het
Dcstamp	A	T	15: 39,754,532	E112D	probably damaging	Het
Fras1	C	T	5: 96,781,637	Q3967*	probably null	Het
Gcm1	C	A	9: 78,064,839	P354H	possibly damaging	Het
Gen1	A	G	12: 11,241,866	S706P	probably benign	Het
Glb1l3	G	T	9: 26,825,170	T532N	probably benign	Het
Gm5069	T	A	1: 180,327,307		probably benign	Het
Gzmc	A	C	14: 56,233,965	F40V	probably benign	Het
Itgb2	G	T	10: 77,550,061	C286F	probably damaging	Het
Jak3	A	G	8: 71,678,480	Y48C	probably damaging	Het
Lrp2	G	A	2: 69,537,616	S184L	probably benign	Het
Myo1f	T	A	17: 33,579,971	N203K	probably benign	Het
Nrxn2	G	A	19: 6,472,276	G182R	probably damaging	Het
Olfr1000	A	C	2: 85,608,320	L197V	probably benign	Het
Olfr1208	A	G	2: 88,897,159	V146A	probably benign	Het
Olfr726	T	C	14: 50,084,486	N65S	probably damaging	Het
Otog	C	T	7: 46,305,479	S2692L	probably damaging	Het
Pde9a	C	T	17: 31,453,470	T34I	probably benign	Het
Phip	T	C	9: 82,881,341	T1295A	possibly damaging	Het
Pik3cb	A	G	9: 99,071,377	V451A	probably benign	Het
Psd2	T	G	18: 36,004,756		probably benign	Het
Pycr2	T	C	1: 180,906,197	I118T	probably damaging	Het
Rnf17	T	G	14: 56,421,166	M104R	probably benign	Het
Rp1l1	T	C	14: 64,028,810	V615A	probably benign	Het
Sel1l3	T	A	5: 53,170,405	R511W	possibly damaging	Het
Sis	T	C	3: 72,947,471	N478D	probably benign	Het
Vmn2r124	T	C	17: 18,064,229		probably benign	Het
Vmn2r9	G	A	5: 108,843,636	L620F	probably damaging	Het
Zc3h13	T	C	14: 75,330,347	S1027P	probably benign	Het
Zfp644	A	T	5: 106,635,894	I929K	probably benign	Het

Other mutations in Trps1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00420:Trps1	APN	15	50846870	missense	probably benign	0.07
IGL00497:Trps1	APN	15	50661307	missense	possibly damaging	0.91
IGL00558:Trps1	APN	15	50661085	missense	probably damaging	1.00
IGL01325:Trps1	APN	15	50846814	missense	probably benign	0.40
IGL02631:Trps1	APN	15	50846021	missense	probably damaging	1.00
IGL02740:Trps1	APN	15	50846539	missense	probably damaging	1.00
IGL02821:Trps1	APN	15	50660877	missense	probably damaging	1.00
IGL03096:Trps1	APN	15	50846479	missense	probably benign
F5770:Trps1	UTSW	15	50831577	missense	probably damaging	1.00
R0050:Trps1	UTSW	15	50765525	missense	probably benign	0.18
R0244:Trps1	UTSW	15	50664743	missense	probably damaging	1.00
R0377:Trps1	UTSW	15	50831778	nonsense	probably null
R0599:Trps1	UTSW	15	50831860	nonsense	probably null
R0848:Trps1	UTSW	15	50661549	missense	possibly damaging	0.54
R1744:Trps1	UTSW	15	50661213	missense	probably damaging	1.00
R1830:Trps1	UTSW	15	50661136	missense	probably damaging	0.99
R2083:Trps1	UTSW	15	50822305	missense	probably damaging	1.00
R2167:Trps1	UTSW	15	50831730	missense	possibly damaging	0.94
R2267:Trps1	UTSW	15	50822398	missense	probably damaging	1.00
R2314:Trps1	UTSW	15	50661346	missense	probably damaging	1.00
R3735:Trps1	UTSW	15	50846060	missense	possibly damaging	0.94
R4133:Trps1	UTSW	15	50831387	missense	probably damaging	1.00
R4223:Trps1	UTSW	15	50846648	missense	probably benign
R4280:Trps1	UTSW	15	50846082	missense	probably benign	0.00
R4566:Trps1	UTSW	15	50831678	missense	probably damaging	1.00
R4810:Trps1	UTSW	15	50822296	missense	probably benign	0.14
R4828:Trps1	UTSW	15	50660677	makesense	probably null
R4838:Trps1	UTSW	15	50827316	missense	probably benign	0.05
R4852:Trps1	UTSW	15	50846309	missense	probably damaging	1.00
R5001:Trps1	UTSW	15	50661307	missense	possibly damaging	0.91
R5311:Trps1	UTSW	15	50664760	missense	probably damaging	1.00
R5463:Trps1	UTSW	15	50831890	nonsense	probably null
R5677:Trps1	UTSW	15	50846108	missense	probably damaging	1.00
R5691:Trps1	UTSW	15	50827304	missense	probably benign
R6432:Trps1	UTSW	15	50831397	missense	probably damaging	0.96
R6528:Trps1	UTSW	15	50822427	missense	probably benign	0.01
R6594:Trps1	UTSW	15	50830955	missense	probably damaging	0.99
R6827:Trps1	UTSW	15	50822563	missense	probably benign	0.14
R6862:Trps1	UTSW	15	50831605	critical splice donor site	probably null
R6912:Trps1	UTSW	15	50822298	missense	possibly damaging	0.92
R7151:Trps1	UTSW	15	50822397	missense	possibly damaging	0.95
R7846:Trps1	UTSW	15	50831877	missense	probably damaging	0.99
R7857:Trps1	UTSW	15	50661005	missense	probably damaging	1.00
R7986:Trps1	UTSW	15	50661736	missense	probably damaging	1.00
R7986:Trps1	UTSW	15	50889623	missense	probably benign	0.00
R8744:Trps1	UTSW	15	50661246	missense	probably damaging	1.00
R8838:Trps1	UTSW	15	50889611	missense	probably benign	0.01
R8859:Trps1	UTSW	15	50822373	missense	possibly damaging	0.77
R8935:Trps1	UTSW	15	50888948	nonsense	probably null
R9044:Trps1	UTSW	15	50822607	missense	probably benign	0.11
R9142:Trps1	UTSW	15	50661262	missense	probably damaging	0.98
R9211:Trps1	UTSW	15	50831444	missense	probably damaging	1.00
R9283:Trps1	UTSW	15	50831051	missense	probably damaging	1.00
R9363:Trps1	UTSW	15	50661280	missense	probably damaging	1.00
R9402:Trps1	UTSW	15	50846256	missense	probably damaging	1.00
R9562:Trps1	UTSW	15	50661261	missense	probably damaging	1.00
R9647:Trps1	UTSW	15	50661548	missense	probably benign	0.09
R9803:Trps1	UTSW	15	50846694	missense	possibly damaging	0.94
V7580:Trps1	UTSW	15	50831577	missense	probably damaging	1.00
V7581:Trps1	UTSW	15	50831577	missense	probably damaging	1.00
V7583:Trps1	UTSW	15	50831577	missense	probably damaging	1.00

Posted On

2015-04-16