Mutagenetix > Incidental Mutations

Incidental Mutation 'R5677:Trps1'

442851

Institutional Source

Beutler Lab

Gene Symbol

Trps1

Ensembl Gene

ENSMUSG00000038679

Gene Name

transcriptional repressor GATA binding 1

Synonyms

D15Ertd586e

MMRRC Submission

043316-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R5677 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

50654752-50890463 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 50846108 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 282 (D282G)

Ref Sequence

ENSEMBL: ENSMUSP00000139017 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077935] [ENSMUST00000165201] [ENSMUST00000183757] [ENSMUST00000183997] [ENSMUST00000184458] [ENSMUST00000184885] [ENSMUST00000185183]

Predicted Effect

probably damaging
Transcript: ENSMUST00000077935
AA Change: D278G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000077089
Gene: ENSMUSG00000038679
AA Change: D278G

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: D278G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000129779
Gene: ENSMUSG00000038679
AA Change: D278G

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: D282G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000139017
Gene: ENSMUSG00000038679
AA Change: D282G

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

possibly damaging
Transcript: ENSMUST00000183997
AA Change: D282G

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000139115
Gene: ENSMUSG00000038679
AA Change: D282G

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 benign
Transcript: ENSMUST00000184458

SMART Domains

Protein: ENSMUSP00000139063
Gene: ENSMUSG00000038679

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

possibly damaging
Transcript: ENSMUST00000184885
AA Change: D232G

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000138905
Gene: ENSMUSG00000038679
AA Change: D232G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000185183

SMART Domains

Protein: ENSMUSP00000138967
Gene: ENSMUSG00000038679

Domain	Start	End	E-Value	Type
ZnF_C2H2	222	247	1.41e0	SMART

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

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: 116 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057J18Rik	C	T	10: 28,986,229	V22I	probably benign	Het
4930430A15Rik	T	C	2: 111,211,565	T342A	probably benign	Het
4931423N10Rik	T	A	2: 23,212,718	L156Q	probably damaging	Het
Abca8a	A	T	11: 110,038,399	V1296D	possibly damaging	Het
Abca8b	C	T	11: 109,940,861	S1328N	probably damaging	Het
Adcy1	G	A	11: 7,161,914	M926I	probably damaging	Het
Aff4	G	T	11: 53,400,275	M687I	possibly damaging	Het
Agbl2	T	A	2: 90,807,978	Y636N	possibly damaging	Het
Agtr1a	A	T	13: 30,381,584	I211F	probably damaging	Het
Alkbh8	T	G	9: 3,385,147	S480A	possibly damaging	Het
Ankrd13b	A	T	11: 77,477,544	V84E	probably damaging	Het
Ap3b1	C	T	13: 94,528,196	T881I	unknown	Het
Apbb1	A	C	7: 105,559,246	D617E	probably damaging	Het
Apobec4	A	G	1: 152,757,282	R354G	probably benign	Het
BC003331	G	A	1: 150,374,837	L319F	probably damaging	Het
Brdt	T	G	5: 107,348,617	C198W	possibly damaging	Het
Cacna1b	G	T	2: 24,679,358	H851Q	possibly damaging	Het
Car2	G	T	3: 14,898,055	V217F	possibly damaging	Het
Ccdc24	A	C	4: 117,869,880		probably benign	Het
Chodl	C	A	16: 78,941,315	A57E	probably damaging	Het
Clgn	G	T	8: 83,409,538	C185F	probably damaging	Het
Cltc	G	T	11: 86,705,242	N1223K	probably damaging	Het
Cnot10	T	C	9: 114,629,093	N115S	probably damaging	Het
Col12a1	T	C	9: 79,699,321	R607G	probably damaging	Het
Cpd	A	G	11: 76,799,825	V835A	probably benign	Het
Csmd3	G	C	15: 48,622,051	L153V	probably damaging	Het
Ctr9	A	G	7: 111,044,002	H527R	probably benign	Het
Cwc22	G	A	2: 77,929,443	R87W	probably damaging	Het
D930020B18Rik	T	A	10: 121,669,201	N107K	probably benign	Het
Dgkg	C	A	16: 22,570,171	V418L	probably benign	Het
Dhx40	A	G	11: 86,800,963		probably null	Het
Diaph1	A	T	18: 37,855,951	M910K	probably damaging	Het
Diras2	T	A	13: 52,507,675	M199L	possibly damaging	Het
Dnah8	G	A	17: 30,748,568	D2585N	probably benign	Het
Dock5	T	A	14: 67,777,603	Q1302H	probably benign	Het
Dync1i2	T	C	2: 71,228,623	S90P	probably benign	Het
E2f8	A	T	7: 48,867,195	V812E	probably damaging	Het
Egfem1	C	A	3: 29,690,174	Q521K	probably damaging	Het
Fbxl18	A	T	5: 142,878,720	C699*	probably null	Het
Fgf3	C	T	7: 144,838,783	R26*	probably null	Het
Fpr-rs7	T	G	17: 20,114,103	I42L	probably benign	Het
Gm13101	A	T	4: 143,965,138	D338E	possibly damaging	Het
Gm3159	T	A	14: 4,398,582	M91K	probably damaging	Het
Gprin3	A	G	6: 59,353,892	S477P	possibly damaging	Het
Grm8	A	T	6: 27,761,204		probably null	Het
Hepacam2	A	T	6: 3,466,142	D420E	probably damaging	Het
Hmcn1	A	T	1: 150,609,778	W4358R	probably benign	Het
Ifna6	G	A	4: 88,827,719	A102T	probably benign	Het
Ighv2-2	T	C	12: 113,588,522	Q32R	probably benign	Het
Igkv1-131	T	A	6: 67,766,258	Q47L	possibly damaging	Het
Il16	T	C	7: 83,674,553	E263G	probably damaging	Het
Kansl1	A	T	11: 104,335,148	C981S	probably benign	Het
Lrp1	A	T	10: 127,574,429	F1483I	probably damaging	Het
Ltf	T	C	9: 111,020,912	M1T	probably null	Het
Ly75	C	T	2: 60,299,082	R1653H	probably benign	Het
Macrod2	T	C	2: 142,176,667	F240S	probably damaging	Het
Man1c1	T	C	4: 134,569,060	E433G	probably damaging	Het
Mansc4	A	T	6: 147,081,549	M130K	probably benign	Het
Mccc1	C	T	3: 35,990,048		probably null	Het
Mink1	G	T	11: 70,605,165	R75L	possibly damaging	Het
Mst1	A	G	9: 108,081,286	D65G	probably damaging	Het
Myo9b	C	T	8: 71,343,686	A857V	probably damaging	Het
Ndufa4	A	G	6: 11,900,575	V70A	probably benign	Het
Npat	T	A	9: 53,555,100	S230T	probably benign	Het
Nr1d1	A	G	11: 98,771,308	Y167H	probably damaging	Het
Oca2	A	G	7: 56,414,462	D735G	probably damaging	Het
Olfr13	T	C	6: 43,174,331	V115A	probably benign	Het
Olfr1359	C	T	13: 21,703,223	T74I	probably benign	Het
Olfr1383	A	G	11: 49,523,944	T74A	probably damaging	Het
Olfr835	T	A	9: 19,035,558	I145N	possibly damaging	Het
Otop1	A	G	5: 38,300,163	Y422C	probably damaging	Het
Pde4dip	G	A	3: 97,841,648	R126*	probably null	Het
Pdp2	C	T	8: 104,594,688	P390S	probably damaging	Het
Pds5b	A	T	5: 150,716,461	T14S	possibly damaging	Het
Pfkp	T	C	13: 6,588,595	E580G	probably damaging	Het
Piezo2	A	T	18: 63,117,696	L212Q	possibly damaging	Het
Piezo2	G	C	18: 63,117,697	L444V	probably benign	Het
Pla2g4d	T	A	2: 120,278,948	T207S	possibly damaging	Het
Plk2	C	A	13: 110,399,057	T471K	possibly damaging	Het
Ppp1r3g	G	A	13: 35,969,262	E222K	probably damaging	Het
Prkcg	A	G	7: 3,323,458	D480G	probably damaging	Het
Pxdc1	T	A	13: 34,652,195	T81S	probably benign	Het
Rnf150	A	T	8: 83,003,599	K253*	probably null	Het
Rsg1	C	T	4: 141,219,866	P186L	probably benign	Het
Sae1	T	C	7: 16,370,462		probably null	Het
Scin	C	T	12: 40,063,259	D538N	probably damaging	Het
Serpinb3c	C	A	1: 107,271,803	K329N	probably damaging	Het
Sgo2b	T	A	8: 63,926,974	K941N	possibly damaging	Het
Six1	C	T	12: 73,046,284	S48N	possibly damaging	Het
Slc39a8	G	A	3: 135,884,688	G381R	probably damaging	Het
Slc9b1	A	G	3: 135,357,559	K35E	unknown	Het
Srek1	C	T	13: 103,759,244	A274T	probably damaging	Het
Steap2	A	T	5: 5,677,497	Y279*	probably null	Het
Svil	T	A	18: 5,046,823	L110*	probably null	Het
Syncrip	T	C	9: 88,456,709		probably benign	Het
Tcf20	A	G	15: 82,853,242	I1336T	probably benign	Het
Tecpr1	T	A	5: 144,218,633	K36*	probably null	Het
Tenm2	A	G	11: 36,141,683	V670A	probably damaging	Het
Thbd	G	A	2: 148,407,366	T194I	probably damaging	Het
Tm9sf2	A	T	14: 122,151,962		probably null	Het
Tmtc4	A	T	14: 122,950,499	I225N	probably damaging	Het
Tpp1	C	T	7: 105,747,536	V425M	probably damaging	Het
Trbc2	T	A	6: 41,547,812	Y144*	probably null	Het
Tsc22d4	T	A	5: 137,747,142	S9R	probably damaging	Het
Upp1	T	A	11: 9,136,025	D287E	probably benign	Het
Uso1	A	C	5: 92,201,299	Q916H	probably damaging	Het
Uty	T	A	Y: 1,134,902	Y884F	probably damaging	Het
Vmn1r222	T	C	13: 23,232,780	R88G	probably damaging	Het
Vmn1r79	T	C	7: 12,177,001	V270A	possibly damaging	Het
Zbtb22	T	C	17: 33,917,735	S285P	probably benign	Het
Zfp385a	A	G	15: 103,318,065	V82A	probably damaging	Het
Zfp59	T	C	7: 27,854,169	F349L	probably benign	Het
Zfp780b	T	G	7: 27,962,799	H777P	probably benign	Het
Zfp82	T	C	7: 30,057,124	T178A	probably benign	Het
Zfp850	T	C	7: 27,989,088	Y565C	probably damaging	Het
Zfp957	A	G	14: 79,212,767	Y531H	probably damaging	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
IGL02132:Trps1	APN	15	50822278	missense	probably damaging	1.00
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
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
R7929:Trps1	UTSW	15	50831877	missense	probably damaging	0.99
R7940:Trps1	UTSW	15	50661005	missense	probably damaging	1.00
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

Predicted Primers

PCR Primer
(F):5'- GGCCTAAAAGCTATGTGTCTGG -3'
(R):5'- TCTGTCTCCAGAGCTTCAGGAC -3'

Sequencing Primer
(F):5'- CTTGGGAGCTGACACTGAAC -3'
(R):5'- CTCCAGAGCTTCAGGACTTTAAATGC -3'

Posted On

2016-11-09