Mutagenetix > Incidental Mutations

Incidental Mutation 'R4833:Ttc7'

373022

Institutional Source

Beutler Lab

Gene Symbol

Ttc7

Ensembl Gene

ENSMUSG00000036918

Gene Name

tetratricopeptide repeat domain 7

Synonyms

1110035E02Rik, fsn, hea, 1700007L07Rik

MMRRC Submission

042449-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.841) question?

Stock #

R4833 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

87282886-87381769 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 87334321 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 449 (P449S)

Ref Sequence

ENSEMBL: ENSMUSP00000040771 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041110] [ENSMUST00000125875] [ENSMUST00000144204] [ENSMUST00000154255]

AlphaFold

Q8BGB2

Predicted Effect

probably damaging
Transcript: ENSMUST00000041110
AA Change: P449S

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

SMART Domains

Protein: ENSMUSP00000040771
Gene: ENSMUSG00000036918
AA Change: P449S

Domain	Start	End	E-Value	Type
low complexity region	40	56	N/A	INTRINSIC
low complexity region	68	76	N/A	INTRINSIC
Pfam:TPR_9	387	458	8.7e-4	PFAM
Blast:TPR	488	532	7e-20	BLAST
Blast:TPR	534	566	3e-7	BLAST
TPR	567	600	1.11e1	SMART
low complexity region	666	684	N/A	INTRINSIC
TPR	711	744	7.89e1	SMART
TPR	745	778	3.87e-2	SMART
TPR	779	812	9.99e1	SMART
TPR	813	846	1.39e-3	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000125875
AA Change: P449S

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

SMART Domains

Protein: ENSMUSP00000115351
Gene: ENSMUSG00000036918
AA Change: P449S

Domain	Start	End	E-Value	Type
low complexity region	40	56	N/A	INTRINSIC
low complexity region	68	76	N/A	INTRINSIC
Pfam:TPR_9	387	458	1.2e-3	PFAM
Blast:TPR	488	532	7e-20	BLAST
Blast:TPR	534	566	3e-7	BLAST
TPR	567	600	1.11e1	SMART
low complexity region	666	684	N/A	INTRINSIC
TPR	711	744	7.89e1	SMART
TPR	745	778	3.87e-2	SMART
low complexity region	787	801	N/A	INTRINSIC
low complexity region	806	818	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127970

Predicted Effect

probably benign
Transcript: ENSMUST00000144204

SMART Domains

Protein: ENSMUSP00000122563
Gene: ENSMUSG00000036918

Domain	Start	End	E-Value	Type
low complexity region	40	56	N/A	INTRINSIC
low complexity region	68	76	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148554

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153014

Predicted Effect

probably benign
Transcript: ENSMUST00000154255

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161043

Meta Mutation Damage Score

0.1788

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.8%

Validation Efficiency

99% (74/75)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein containing tetratricopeptide repeats. Mutations in this gene disrupt intestinal development and can cause early onset inflammatory bowel disease and intestinal atresia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]
PHENOTYPE: Homozygotes for a spontaneous mutation exhibit reduced growth, sparse hair, thickened, scaly skin, increased numbers of splenic B cells, macrophages, and erythroid cells, elevated IgE, glomerulonephritis, and forestomach papillomas. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810055G02Rik	C	A	19: 3,716,872	T153K	possibly damaging	Het
4932438A13Rik	A	G	3: 36,964,968	I2007V	probably damaging	Het
Abca5	A	C	11: 110,279,316	Y1318D	probably benign	Het
Adam18	A	G	8: 24,674,101	I22T	probably benign	Het
Adgrv1	T	A	13: 81,560,844	H1147L	possibly damaging	Het
Ankrd2	T	C	19: 42,043,857		probably null	Het
Bdkrb2	T	C	12: 105,591,658	W53R	probably benign	Het
Blm	T	A	7: 80,466,826	I1111L	probably benign	Het
Bmp3	T	G	5: 98,855,207	L32R	probably damaging	Het
Cdh23	T	G	10: 60,385,038	E1312A	probably damaging	Het
Ceacam5	C	T	7: 17,752,258	T560M	probably benign	Het
Cmtm8	C	A	9: 114,796,165	R66I	probably benign	Het
Cnbd1	A	G	4: 18,862,120	Y357H	probably damaging	Het
Col4a4	A	T	1: 82,529,602	V252E	unknown	Het
Col6a4	A	T	9: 106,071,979	M819K	probably benign	Het
Cwf19l2	T	C	9: 3,430,783	S372P	probably benign	Het
Daam2	A	T	17: 49,490,145	I204N	possibly damaging	Het
Dock6	T	C	9: 21,844,280	D216G	probably damaging	Het
Epha5	C	T	5: 84,105,891	D548N	possibly damaging	Het
Erich2	T	C	2: 70,534,292	Y311H	possibly damaging	Het
Gm3985	A	G	8: 32,890,477		noncoding transcript	Het
Gnb1	A	G	4: 155,543,067	T102A	possibly damaging	Het
Hcfc2	C	T	10: 82,709,146	A204V	probably null	Het
Hnrnpu	T	C	1: 178,333,894		probably benign	Het
Htt	A	G	5: 34,852,225	T1517A	probably damaging	Het
Klhl6	T	A	16: 19,957,139	D223V	probably damaging	Het
Kpna6	A	G	4: 129,657,779	S71P	possibly damaging	Het
Lama3	A	G	18: 12,441,131	D590G	probably benign	Het
Lipt1	T	G	1: 37,875,529	L222R	probably damaging	Het
Lrrc41	A	G	4: 116,093,177		probably benign	Het
Lrrc59	T	C	11: 94,634,672	V98A	probably benign	Het
Mast4	A	G	13: 102,774,184		probably null	Het
Mdc1	C	T	17: 35,850,394	S733F	probably benign	Het
Mknk1	C	T	4: 115,878,186		probably benign	Het
Mtmr7	A	G	8: 40,590,462	F141S	probably damaging	Het
Myo15b	A	G	11: 115,887,602	D1G	possibly damaging	Het
Odf3	T	C	7: 140,848,278	M1T	probably null	Het
Olfr1356	T	G	10: 78,847,575	L113F	probably damaging	Het
Phkb	T	A	8: 85,901,911	V183E	probably damaging	Het
Pola2	T	C	19: 5,953,864	Y161C	probably damaging	Het
Psen1	G	A	12: 83,731,778	V412I	probably benign	Het
Psmc4	C	A	7: 28,047,512	G77V	probably damaging	Het
Psmd3	A	G	11: 98,687,760	Y207C	probably damaging	Het
Pxk	T	A	14: 8,130,653	M84K	probably damaging	Het
Rab44	A	C	17: 29,136,337	Q19P	probably damaging	Het
Rbks	A	G	5: 31,624,515	Y314H	probably benign	Het
Rftn2	T	C	1: 55,214,240	D68G	possibly damaging	Het
Rims2	T	A	15: 39,535,914	S838R	probably damaging	Het
Sdc4	A	T	2: 164,431,218	D57E	probably damaging	Het
Slfn14	A	G	11: 83,279,156	L554P	probably damaging	Het
Spink2	G	T	5: 77,205,392	D83E	possibly damaging	Het
Srsf4	C	T	4: 131,900,102		probably benign	Het
Taar8b	A	T	10: 24,092,132	S55T	possibly damaging	Het
Tbca	A	G	13: 94,832,410	E35G	probably benign	Het
Tmc5	C	A	7: 118,628,829	H307Q	probably benign	Het
Tmem169	A	G	1: 72,298,152	D82G	probably benign	Het
Tmem72	T	C	6: 116,698,358	T58A	probably benign	Het
Ttf2	T	C	3: 100,961,406	E449G	probably benign	Het
Ubr4	C	A	4: 139,402,546	T659K	probably damaging	Het
Wdr1	A	G	5: 38,547,029	Y98H	probably damaging	Het
Wfikkn2	A	G	11: 94,239,052	Y88H	probably benign	Het
Zfp384	A	T	6: 125,030,848	H247L	probably damaging	Het
Zfp526	C	T	7: 25,225,870	A518V	probably damaging	Het
Zfp788	T	A	7: 41,647,568	H47Q	probably benign	Het

Other mutations in Ttc7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00341:Ttc7	APN	17	87363564	missense	possibly damaging	0.66
IGL00980:Ttc7	APN	17	87321446	missense	possibly damaging	0.82
IGL01638:Ttc7	APN	17	87359112	critical splice acceptor site	probably null
IGL01896:Ttc7	APN	17	87359124	missense	probably damaging	0.99
IGL02643:Ttc7	APN	17	87340899	missense	possibly damaging	0.85
R0164:Ttc7	UTSW	17	87379895	missense	probably damaging	1.00
R0164:Ttc7	UTSW	17	87379895	missense	probably damaging	1.00
R0310:Ttc7	UTSW	17	87361864	missense	probably benign	0.00
R0412:Ttc7	UTSW	17	87330044	missense	probably benign	0.20
R0520:Ttc7	UTSW	17	87359151	missense	possibly damaging	0.93
R1216:Ttc7	UTSW	17	87346578	missense	possibly damaging	0.85
R1262:Ttc7	UTSW	17	87340936	missense	probably benign	0.09
R1337:Ttc7	UTSW	17	87290296	missense	probably damaging	1.00
R1537:Ttc7	UTSW	17	87322463	missense	possibly damaging	0.88
R1586:Ttc7	UTSW	17	87361945	critical splice donor site	probably null
R1678:Ttc7	UTSW	17	87361901	missense	probably damaging	1.00
R1747:Ttc7	UTSW	17	87307015	missense	possibly damaging	0.87
R2146:Ttc7	UTSW	17	87346707	splice site	probably benign
R3878:Ttc7	UTSW	17	87370738	intron	probably benign
R3934:Ttc7	UTSW	17	87370738	intron	probably benign
R4007:Ttc7	UTSW	17	87290251	missense	possibly damaging	0.69
R4256:Ttc7	UTSW	17	87321401	critical splice acceptor site	probably null
R4671:Ttc7	UTSW	17	87346620	missense	probably damaging	1.00
R4676:Ttc7	UTSW	17	87370735	intron	probably benign
R4677:Ttc7	UTSW	17	87370735	intron	probably benign
R4784:Ttc7	UTSW	17	87340897	missense	probably benign	0.03
R4927:Ttc7	UTSW	17	87346705	splice site	probably null
R4940:Ttc7	UTSW	17	87306958	missense	probably benign	0.02
R5183:Ttc7	UTSW	17	87292878	missense	probably damaging	1.00
R5634:Ttc7	UTSW	17	87342087	missense	probably benign
R5710:Ttc7	UTSW	17	87290246	missense	probably damaging	1.00
R5867:Ttc7	UTSW	17	87322472	missense	possibly damaging	0.49
R6437:Ttc7	UTSW	17	87330106	missense	probably damaging	1.00
R6982:Ttc7	UTSW	17	87307009	missense	probably damaging	1.00
R7299:Ttc7	UTSW	17	87346542	missense	possibly damaging	0.68
R7849:Ttc7	UTSW	17	87292946	missense	probably null	0.00
R8098:Ttc7	UTSW	17	87334328	missense	probably benign	0.21
R8471:Ttc7	UTSW	17	87294026	missense	probably benign	0.24
R8889:Ttc7	UTSW	17	87330092	missense	probably damaging	1.00
R8892:Ttc7	UTSW	17	87330092	missense	probably damaging	1.00
R9225:Ttc7	UTSW	17	87330074	missense	probably damaging	1.00
R9427:Ttc7	UTSW	17	87370719	intron	probably benign
R9436:Ttc7	UTSW	17	87292892	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- AGGACTCATTTGCAGTGAACATC -3'
(R):5'- CTCCTGTCCCTACACAAAGG -3'

Sequencing Primer
(F):5'- TGAACATCACTGGGCCTCC -3'
(R):5'- ACAAAGGTGGCACCCTGTCTTC -3'

Posted On

2016-03-01