Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00838:Ttc37'

14632

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ttc37

Ensembl Gene

ENSMUSG00000033991

Gene Name

tetratricopeptide repeat domain 37

Synonyms

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.299) question?

Stock #

IGL00838

Quality Score

Status

Chromosome

Chromosomal Location

76098734-76190316 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 76134791 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 744 (L744P)

Ref Sequence

ENSEMBL: ENSMUSP00000153521 (fasta)

Gene Model

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

AlphaFold

F8VPK0

Predicted Effect

probably damaging
Transcript: ENSMUST00000091466
AA Change: L744P

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000089045
Gene: ENSMUSG00000033991
AA Change: L744P

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

probably damaging
Transcript: ENSMUST00000224386
AA Change: L744P

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224914

Predicted Effect

probably benign
Transcript: ENSMUST00000225220

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225341

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 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: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ano7	C	A	1: 93,402,757	N834K	possibly damaging	Het
Armc10	T	A	5: 21,661,581	V281E	probably damaging	Het
Baat	A	T	4: 49,490,352	M244K	probably damaging	Het
Cryz	T	A	3: 154,618,475	C166S	probably damaging	Het
D430041D05Rik	T	A	2: 104,201,303	K1649N	probably damaging	Het
Dennd5b	T	C	6: 149,005,363		probably benign	Het
Dock8	A	T	19: 25,175,459	R1630*	probably null	Het
Gstm5	A	G	3: 107,897,558	N122S	probably benign	Het
Klra5	C	A	6: 129,911,359	G35C	possibly damaging	Het
Klrb1f	G	A	6: 129,054,316	V159I	possibly damaging	Het
Mgl2	A	T	11: 70,134,212	M14L	probably benign	Het
Mob1a	C	T	6: 83,338,331	R78C	possibly damaging	Het
Pigo	C	T	4: 43,021,767	A392T	possibly damaging	Het
Polr3a	A	T	14: 24,475,863	N436K	probably benign	Het
Prokr1	T	C	6: 87,588,693	T57A	possibly damaging	Het
Ror1	T	G	4: 100,333,743	V99G	probably damaging	Het
Ryr2	A	T	13: 11,568,503	I4755N	probably damaging	Het
Senp5	T	C	16: 31,989,173	D394G	probably damaging	Het
Speg	A	G	1: 75,410,390	I1318V	possibly damaging	Het
Syt6	T	A	3: 103,625,626	M357K	probably damaging	Het
Tex11	A	T	X: 100,972,118	I328N	possibly damaging	Het
Vnn1	T	C	10: 23,900,779	F343L	possibly damaging	Het
Wdr72	A	T	9: 74,155,129	E519V	probably damaging	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
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
R4957:Ttc37	UTSW	13	76185113	splice site	probably null
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

Posted On

2012-12-06