Mutagenetix > Incidental Mutation

Incidental Mutation 'R4957:Ttc37'

381670

Institutional Source

Beutler Lab

Gene Symbol

Ttc37

Ensembl Gene

ENSMUSG00000033991

Gene Name

tetratricopeptide repeat domain 37

Synonyms

MMRRC Submission

042554-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.562) question?

Stock #

R4957 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

76098734-76190316 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to G at 76185113 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000091466] [ENSMUST00000224386]

AlphaFold

F8VPK0

Predicted Effect

probably null
Transcript: ENSMUST00000091466

SMART Domains

Protein: ENSMUSP00000089045
Gene: ENSMUSG00000033991

Domain	Start	End	E-Value	Type
TPR	6	39	2.92e1	SMART
TPR	40	73	1.1e-1	SMART
TPR	272	305	9.45e0	SMART
TPR	306	339	8.9e-2	SMART
SEL1	420	451	1.45e2	SMART
TPR	420	453	2.55e-2	SMART
SEL1	454	490	1.15e1	SMART
TPR	454	492	2.84e1	SMART
TPR	493	527	1.92e1	SMART
TPR	564	597	7.34e-3	SMART
TPR	598	631	1.81e-2	SMART
TPR	632	665	2.43e1	SMART
low complexity region	728	739	N/A	INTRINSIC
SEL1	861	892	3.58e1	SMART
TPR	861	894	2.14e-4	SMART
TPR	980	1013	1.56e1	SMART
Blast:TPR	1051	1084	7e-11	BLAST
Blast:TPR	1088	1121	7e-10	BLAST
TPR	1399	1432	4.31e0	SMART
low complexity region	1438	1450	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223902

Predicted Effect

probably null
Transcript: ENSMUST00000224386

Predicted Effect

probably null
Transcript: ENSMUST00000225147

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.5%

Validation Efficiency

99% (80/81)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with twenty tetratricopeptide (TPR) repeats. Tetratricopeptide repeat containing motifs are found in a variety of proteins and may mediate protein-protein interactions and chaperone activity. Mutations in this gene are associated with trichohepatoenteric syndrome. [provided by RefSeq, Jul 2010]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110009E18Rik	G	C	1: 120,169,110		probably benign	Het
3110009E18Rik	G	T	1: 120,169,119		probably benign	Het
3110009E18Rik	C	T	1: 120,169,120		probably benign	Het
6820408C15Rik	T	A	2: 152,444,093	V342D	probably damaging	Het
Arhgap33	C	T	7: 30,532,361	G101R	probably damaging	Het
Atf7ip	C	T	6: 136,606,810	R1280C	probably damaging	Het
Cacnb4	T	C	2: 52,558,291	H8R	probably damaging	Het
Ccdc150	T	A	1: 54,364,868		probably benign	Het
Cd163l1	T	C	7: 140,228,522	V782A	probably damaging	Het
Cd74	A	G	18: 60,809,037	N113D	probably benign	Het
Cdc25b	T	C	2: 131,193,605	V341A	possibly damaging	Het
Clptm1l	T	A	13: 73,611,196	I245N	possibly damaging	Het
Clptm1l	T	C	13: 73,612,428	I310T	probably damaging	Het
Creb5	A	T	6: 53,693,922		probably null	Het
Crebbp	T	C	16: 4,117,367	Q460R	probably benign	Het
Dnah17	A	T	11: 118,074,298	I2306N	probably benign	Het
Dync1h1	C	A	12: 110,658,126	T3700N	probably damaging	Het
Elovl1	A	T	4: 118,431,923	H215L	probably damaging	Het
Enkd1	A	G	8: 105,704,489	I202T	probably benign	Het
Epha7	C	T	4: 28,871,892	A407V	probably damaging	Het
Ercc3	G	T	18: 32,243,117	G130W	probably damaging	Het
Fbxl8	A	G	8: 105,268,195	E113G	probably damaging	Het
Frmpd1	T	G	4: 45,273,099	N339K	probably damaging	Het
Frrs1	G	A	3: 116,885,248	D240N	probably benign	Het
Gemin2	A	G	12: 59,017,168	S105G	probably benign	Het
Glra1	T	A	11: 55,527,398	I257F	probably damaging	Het
Gmcl1	G	A	6: 86,710,521	P354S	probably damaging	Het
Gpr15	G	T	16: 58,718,174	A184E	probably damaging	Het
Grm7	G	A	6: 111,358,863	G745E	probably damaging	Het
H2-T10	T	A	17: 36,117,416		probably benign	Het
Hdac5	C	A	11: 102,205,256		probably benign	Het
Ift22	G	A	5: 136,908,216		probably benign	Het
Ighg3	T	C	12: 113,361,130	E34G	unknown	Het
Itga11	A	T	9: 62,767,648	T821S	probably benign	Het
Lmod2	T	C	6: 24,603,872	V282A	possibly damaging	Het
Maml2	A	G	9: 13,620,276	K262R	probably damaging	Het
Mme	T	A	3: 63,343,489		probably benign	Het
Mnat1	A	G	12: 73,123,878	Y14C	probably damaging	Het
Mtdh	A	T	15: 34,083,135	T34S	possibly damaging	Het
Ncaph	T	C	2: 127,121,257	D352G	possibly damaging	Het
Olfr1014	T	C	2: 85,777,115	F177S	probably damaging	Het
Olfr1036	T	A	2: 86,075,510	Y257N	probably damaging	Het
Olfr1293-ps	C	A	2: 111,528,224	N321K	probably benign	Het
Olfr224	A	G	11: 58,566,518	Y276H	probably damaging	Het
Pcdhb13	T	A	18: 37,444,784	D738E	possibly damaging	Het
Pla2g4f	C	T	2: 120,300,499	R825Q	probably benign	Het
Pnliprp2	C	T	19: 58,775,145	L409F	possibly damaging	Het
Prlr	G	T	15: 10,319,195	C70F	probably damaging	Het
Ptpn14	C	T	1: 189,851,272	T772I	probably benign	Het
Ryr2	T	C	13: 11,785,080	Q927R	probably damaging	Het
Scarf1	A	G	11: 75,525,634	E634G	probably benign	Het
Slc39a14	A	T	14: 70,315,811	S158R	probably damaging	Het
Slc9c1	A	T	16: 45,544,831	T176S	probably benign	Het
Srsf10	T	C	4: 135,856,230	S2P	probably damaging	Het
Tcam1	T	A	11: 106,282,879	C50S	probably damaging	Het
Tcf7l2	A	G	19: 55,931,432		probably null	Het
Tdrd3	T	A	14: 87,505,787	H390Q	probably benign	Het
Tlk2	T	C	11: 105,253,359		probably null	Het
Tnc	G	C	4: 63,976,556	P1531R	probably damaging	Het
Tnfrsf1b	C	A	4: 145,246,757	Q15H	probably damaging	Het
Tnfrsf1b	T	G	4: 145,246,758	Q15P	possibly damaging	Het
Tssk4	A	T	14: 55,651,809	E264V	probably damaging	Het
Ugt3a2	G	A	15: 9,365,188	V296I	probably benign	Het
Usp5	C	G	6: 124,822,630	K318N	possibly damaging	Het
Vmn2r8	T	G	5: 108,799,263	E541A	probably benign	Het
Ybx1	A	T	4: 119,278,938		probably benign	Het
Zfp39	T	A	11: 58,891,231	Y235F	possibly damaging	Het
Zfp422	T	A	6: 116,626,943	K32*	probably null	Het
Zpbp2	T	A	11: 98,551,324		probably null	Het

Other mutations in Ttc37

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00159:Ttc37	APN	13	76143278	critical splice donor site	probably null
IGL00650:Ttc37	APN	13	76127507	missense	possibly damaging	0.89
IGL00838:Ttc37	APN	13	76134791	missense	probably damaging	0.99
IGL00958:Ttc37	APN	13	76122745	missense	probably damaging	0.98
IGL01011:Ttc37	APN	13	76122665	missense	probably damaging	0.97
IGL01062:Ttc37	APN	13	76155462	nonsense	probably null
IGL01319:Ttc37	APN	13	76129379	missense	probably benign	0.29
IGL01697:Ttc37	APN	13	76128733	missense	probably benign	0.01
IGL02061:Ttc37	APN	13	76129541	critical splice donor site	probably null
IGL02184:Ttc37	APN	13	76111691	missense	probably damaging	1.00
IGL02309:Ttc37	APN	13	76127047	missense	possibly damaging	0.90
IGL03230:Ttc37	APN	13	76155647	splice site	probably benign
IGL03354:Ttc37	APN	13	76182822	missense	possibly damaging	0.71
caviar	UTSW	13	76147767	missense	possibly damaging	0.54
gourmet	UTSW	13	76150519	missense	probably damaging	1.00
tartare	UTSW	13	76185179	missense	probably damaging	0.96
R0501:Ttc37	UTSW	13	76147806	missense	probably benign
R0628:Ttc37	UTSW	13	76150729	missense	possibly damaging	0.89
R0711:Ttc37	UTSW	13	76182891	missense	probably damaging	1.00
R0928:Ttc37	UTSW	13	76113592	missense	probably damaging	1.00
R1402:Ttc37	UTSW	13	76131414	missense	probably damaging	1.00
R1402:Ttc37	UTSW	13	76131414	missense	probably damaging	1.00
R1524:Ttc37	UTSW	13	76138372	missense	probably benign	0.01
R1628:Ttc37	UTSW	13	76111791	missense	possibly damaging	0.75
R1702:Ttc37	UTSW	13	76122743	missense	possibly damaging	0.66
R1750:Ttc37	UTSW	13	76140601	missense	possibly damaging	0.89
R1822:Ttc37	UTSW	13	76130288	missense	probably benign	0.35
R1885:Ttc37	UTSW	13	76113047	missense	probably benign	0.00
R1885:Ttc37	UTSW	13	76130235	missense	probably benign	0.11
R1923:Ttc37	UTSW	13	76134770	missense	probably damaging	1.00
R1978:Ttc37	UTSW	13	76134815	missense	probably benign	0.00
R2040:Ttc37	UTSW	13	76180103	missense	probably damaging	1.00
R2136:Ttc37	UTSW	13	76173354	missense	possibly damaging	0.87
R2268:Ttc37	UTSW	13	76112274	unclassified	probably benign
R2483:Ttc37	UTSW	13	76182867	missense	probably damaging	1.00
R2988:Ttc37	UTSW	13	76155689	missense	probably benign	0.11
R3701:Ttc37	UTSW	13	76113679	missense	probably benign
R3951:Ttc37	UTSW	13	76130219	missense	probably damaging	1.00
R4405:Ttc37	UTSW	13	76155665	missense	probably damaging	0.97
R4411:Ttc37	UTSW	13	76127504	missense	possibly damaging	0.89
R4960:Ttc37	UTSW	13	76185156	missense	possibly damaging	0.95
R4993:Ttc37	UTSW	13	76182936	missense	probably damaging	0.96
R5206:Ttc37	UTSW	13	76147767	missense	possibly damaging	0.54
R5208:Ttc37	UTSW	13	76147767	missense	possibly damaging	0.54
R5302:Ttc37	UTSW	13	76147767	missense	possibly damaging	0.54
R5305:Ttc37	UTSW	13	76147767	missense	possibly damaging	0.54
R5306:Ttc37	UTSW	13	76147767	missense	possibly damaging	0.54
R5579:Ttc37	UTSW	13	76185200	missense	probably damaging	1.00
R5618:Ttc37	UTSW	13	76173426	missense	probably benign
R5726:Ttc37	UTSW	13	76118347	missense	probably damaging	1.00
R5813:Ttc37	UTSW	13	76155733	missense	probably benign	0.05
R5899:Ttc37	UTSW	13	76111819	splice site	probably null
R6146:Ttc37	UTSW	13	76185240	missense	probably damaging	1.00
R6224:Ttc37	UTSW	13	76118291	missense	probably benign	0.02
R6286:Ttc37	UTSW	13	76143240	missense	probably damaging	1.00
R6402:Ttc37	UTSW	13	76135270	missense	probably benign	0.05
R6561:Ttc37	UTSW	13	76150519	missense	probably damaging	1.00
R6808:Ttc37	UTSW	13	76185179	missense	probably damaging	0.96
R7054:Ttc37	UTSW	13	76134960	missense	probably damaging	1.00
R7261:Ttc37	UTSW	13	76113579	missense	probably benign	0.30
R7267:Ttc37	UTSW	13	76180077	missense	probably benign	0.15
R7348:Ttc37	UTSW	13	76182884	missense	possibly damaging	0.82
R7384:Ttc37	UTSW	13	76150735	missense	possibly damaging	0.53
R7404:Ttc37	UTSW	13	76148747	nonsense	probably null
R7421:Ttc37	UTSW	13	76148825	missense	probably benign	0.12
R7546:Ttc37	UTSW	13	76134835	missense	probably damaging	1.00
R7771:Ttc37	UTSW	13	76135030	missense	probably benign	0.21
R7960:Ttc37	UTSW	13	76112199	missense	probably benign	0.03
R8125:Ttc37	UTSW	13	76130327	critical splice donor site	probably null
R8136:Ttc37	UTSW	13	76113103	missense	probably benign	0.00
R8680:Ttc37	UTSW	13	76155468	missense	probably benign	0.01
R8697:Ttc37	UTSW	13	76180155	missense	probably damaging	1.00
R8867:Ttc37	UTSW	13	76131309	missense	probably damaging	0.99
R8872:Ttc37	UTSW	13	76185207	missense	probably damaging	1.00
R8876:Ttc37	UTSW	13	76175284	missense	probably benign	0.12
R8912:Ttc37	UTSW	13	76157242	splice site	probably benign
R9174:Ttc37	UTSW	13	76147774	missense	probably benign	0.00
R9334:Ttc37	UTSW	13	76132957	missense	possibly damaging	0.65
R9389:Ttc37	UTSW	13	76127039	missense	probably benign	0.02
R9422:Ttc37	UTSW	13	76130328	splice site	probably benign
R9443:Ttc37	UTSW	13	76118169	missense	probably benign	0.01
R9545:Ttc37	UTSW	13	76111713	missense	probably damaging	1.00
R9596:Ttc37	UTSW	13	76182849	missense	possibly damaging	0.64
X0067:Ttc37	UTSW	13	76132933	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- CATGTGTAACATAGTACCATGTACC -3'
(R):5'- ACAGATGCACCATTAACTGTGG -3'

Sequencing Primer
(F):5'- CCATGTACCATGTACAATGA -3'
(R):5'- TTAAGAGGTACCACCGAG -3'

Posted On

2016-04-27