Mutagenetix > Incidental Mutation

Incidental Mutation 'R5183:Ttc7'

397714

Institutional Source

Beutler Lab

Gene Symbol

Ttc7

Ensembl Gene

ENSMUSG00000036918

Gene Name

tetratricopeptide repeat domain 7

Synonyms

fsn, 1700007L07Rik, 1110035E02Rik, hea

MMRRC Submission

042762-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.854) question?

Stock #

R5183 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

87590328-87689197 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 87600306 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 23 (D23V)

Ref Sequence

ENSEMBL: ENSMUSP00000114181 (fasta)

Gene Model

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

AlphaFold

Q8BGB2

Predicted Effect

probably damaging
Transcript: ENSMUST00000041110
AA Change: D140V

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000040771
Gene: ENSMUSG00000036918
AA Change: D140V

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: D140V

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000115351
Gene: ENSMUSG00000036918
AA Change: D140V

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: ENSMUST00000126497

Predicted Effect

probably damaging
Transcript: ENSMUST00000144204
AA Change: D140V

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

SMART Domains

Protein: ENSMUSP00000122563
Gene: ENSMUSG00000036918
AA Change: D140V

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000154255
AA Change: D23V

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

Meta Mutation Damage Score

0.8498

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.4%

Validation Efficiency

99% (73/74)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	A	T	5: 109,887,171 (GRCm39)	D8E	probably damaging	Het
Abca3	T	G	17: 24,593,427 (GRCm39)	S275A	probably benign	Het
Adk	A	G	14: 21,290,599 (GRCm39)	N155S	probably damaging	Het
Aqp11	T	C	7: 97,386,963 (GRCm39)	T78A	probably benign	Het
Arhgef40	T	C	14: 52,241,556 (GRCm39)	V1455A	probably damaging	Het
Asxl3	C	G	18: 22,658,356 (GRCm39)	A2122G	possibly damaging	Het
Cdan1	T	A	2: 120,560,061 (GRCm39)	I368F	probably damaging	Het
Cdc42bpg	A	G	19: 6,371,835 (GRCm39)		probably benign	Het
Celsr3	A	G	9: 108,714,759 (GRCm39)	D2013G	probably damaging	Het
Cep152	A	G	2: 125,408,558 (GRCm39)	V1332A	probably damaging	Het
Cftr	T	C	6: 18,299,832 (GRCm39)	S1172P	probably damaging	Het
Commd2	A	T	3: 57,554,235 (GRCm39)	D155E	probably benign	Het
Coq7	T	A	7: 118,127,490 (GRCm39)		probably benign	Het
Dnase2a	T	C	8: 85,636,207 (GRCm39)		probably benign	Het
Dnhd1	G	A	7: 105,352,416 (GRCm39)	R2523Q	probably damaging	Het
Dock6	C	T	9: 21,752,899 (GRCm39)	V305I	probably benign	Het
Ehmt1	G	T	2: 24,767,509 (GRCm39)	P135T	probably damaging	Het
Fasn	T	C	11: 120,699,708 (GRCm39)	Q2288R	probably benign	Het
Fat3	T	A	9: 15,871,609 (GRCm39)	N3594I	probably damaging	Het
Galnt10	T	C	11: 57,660,414 (GRCm39)	M284T	probably damaging	Het
Gatm	A	T	2: 122,425,984 (GRCm39)	F422L	probably benign	Het
Glrp1	A	T	1: 88,437,574 (GRCm39)	I12N	unknown	Het
Gm5455	T	A	13: 110,441,962 (GRCm39)		noncoding transcript	Het
Gpam	C	T	19: 55,071,659 (GRCm39)	E361K	probably damaging	Het
Gps2	A	G	11: 69,806,023 (GRCm39)	T126A	probably benign	Het
Grn	C	A	11: 102,321,380 (GRCm39)		probably benign	Het
Gsg1	T	A	6: 135,218,368 (GRCm39)	Q176L	probably damaging	Het
Htra1	C	T	7: 130,585,446 (GRCm39)	A412V	possibly damaging	Het
Icosl	C	T	10: 77,905,319 (GRCm39)		probably benign	Het
Iqgap1	T	C	7: 80,372,813 (GRCm39)	T1509A	probably damaging	Het
Irag2	A	G	6: 145,083,946 (GRCm39)	E37G	probably benign	Het
Itgad	T	C	7: 127,797,395 (GRCm39)		probably null	Het
Kdm5a	C	A	6: 120,406,977 (GRCm39)		probably benign	Het
Kidins220	T	C	12: 25,101,125 (GRCm39)	L1017S	probably benign	Het
Lrrc37	T	C	11: 103,433,947 (GRCm39)	Y898C	probably damaging	Het
Man2b1	T	A	8: 85,822,413 (GRCm39)	S804R	probably damaging	Het
Miip	A	T	4: 147,947,526 (GRCm39)	F211L	probably damaging	Het
Moxd1	T	G	10: 24,155,445 (GRCm39)		probably null	Het
Moxd1	T	G	10: 24,163,034 (GRCm39)	Y499D	probably damaging	Het
Mrpl45	T	C	11: 97,207,577 (GRCm39)	I24T	probably benign	Het
Msh2	C	A	17: 88,030,841 (GRCm39)	A906E	probably benign	Het
Mthfr	T	A	4: 148,135,817 (GRCm39)		probably null	Het
Muc5b	T	A	7: 141,404,547 (GRCm39)	D827E	unknown	Het
Myo1g	G	C	11: 6,458,243 (GRCm39)	L866V	probably damaging	Het
Myo3a	A	T	2: 22,468,170 (GRCm39)	M475L	probably benign	Het
Ncoa2	A	C	1: 13,244,590 (GRCm39)	L703V	probably damaging	Het
Ncoa4-ps	A	C	12: 119,225,023 (GRCm39)		noncoding transcript	Het
Nme6	T	A	9: 109,670,557 (GRCm39)	Y69*	probably null	Het
Nwd1	T	A	8: 73,397,714 (GRCm39)	M651K	probably benign	Het
Or4k15c	A	C	14: 50,322,003 (GRCm39)	I45S	probably damaging	Het
Orc2	A	T	1: 58,513,977 (GRCm39)	S298R	possibly damaging	Het
Oscp1	A	T	4: 125,981,522 (GRCm39)	E328V	probably damaging	Het
Pan2	T	C	10: 128,153,838 (GRCm39)	V1003A	probably damaging	Het
Pik3r4	T	C	9: 105,559,507 (GRCm39)	V1200A	possibly damaging	Het
Prl	T	C	13: 27,241,579 (GRCm39)		probably benign	Het
Ptprk	T	C	10: 28,351,232 (GRCm39)	V575A	probably benign	Het
Rflna	A	T	5: 125,088,469 (GRCm39)	S139C	probably damaging	Het
Robo1	T	C	16: 72,539,038 (GRCm39)	F27S	probably benign	Het
Secisbp2	T	C	13: 51,819,460 (GRCm39)	S347P	probably benign	Het
Shmt1	A	G	11: 60,688,308 (GRCm39)		probably benign	Het
Slc27a3	A	G	3: 90,296,477 (GRCm39)		probably null	Het
Slc6a5	T	C	7: 49,585,957 (GRCm39)	V425A	probably damaging	Het
Slc8a3	A	G	12: 81,361,265 (GRCm39)	V518A	possibly damaging	Het
Slco1a4	A	T	6: 141,785,357 (GRCm39)	Y78N	probably damaging	Het
Stt3b	A	T	9: 115,095,211 (GRCm39)	H273Q	probably damaging	Het
Tle6	T	A	10: 81,428,635 (GRCm39)	N431I	probably damaging	Het
Trim34b	C	A	7: 103,979,118 (GRCm39)	Q122K	possibly damaging	Het
Trio	C	A	15: 27,902,686 (GRCm39)	R258S	probably benign	Het
Ttn	A	T	2: 76,810,525 (GRCm39)	M1K	probably null	Het
Ufsp2	T	C	8: 46,447,126 (GRCm39)	V391A	probably benign	Het
Vps13c	T	C	9: 67,815,334 (GRCm39)	L990S	probably damaging	Het
Zfp108	G	T	7: 23,960,163 (GRCm39)	K251N	probably benign	Het
Zfp618	G	A	4: 63,017,519 (GRCm39)	M234I	probably benign	Het

Other mutations in Ttc7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00341:Ttc7	APN	17	87,670,992 (GRCm39)	missense	possibly damaging	0.66
IGL00980:Ttc7	APN	17	87,628,874 (GRCm39)	missense	possibly damaging	0.82
IGL01638:Ttc7	APN	17	87,666,540 (GRCm39)	critical splice acceptor site	probably null
IGL01896:Ttc7	APN	17	87,666,552 (GRCm39)	missense	probably damaging	0.99
IGL02643:Ttc7	APN	17	87,648,327 (GRCm39)	missense	possibly damaging	0.85
R0164:Ttc7	UTSW	17	87,687,323 (GRCm39)	missense	probably damaging	1.00
R0164:Ttc7	UTSW	17	87,687,323 (GRCm39)	missense	probably damaging	1.00
R0310:Ttc7	UTSW	17	87,669,292 (GRCm39)	missense	probably benign	0.00
R0412:Ttc7	UTSW	17	87,637,472 (GRCm39)	missense	probably benign	0.20
R0520:Ttc7	UTSW	17	87,666,579 (GRCm39)	missense	possibly damaging	0.93
R1216:Ttc7	UTSW	17	87,654,006 (GRCm39)	missense	possibly damaging	0.85
R1262:Ttc7	UTSW	17	87,648,364 (GRCm39)	missense	probably benign	0.09
R1337:Ttc7	UTSW	17	87,597,724 (GRCm39)	missense	probably damaging	1.00
R1537:Ttc7	UTSW	17	87,629,891 (GRCm39)	missense	possibly damaging	0.88
R1586:Ttc7	UTSW	17	87,669,373 (GRCm39)	critical splice donor site	probably null
R1678:Ttc7	UTSW	17	87,669,329 (GRCm39)	missense	probably damaging	1.00
R1747:Ttc7	UTSW	17	87,614,443 (GRCm39)	missense	possibly damaging	0.87
R2146:Ttc7	UTSW	17	87,654,135 (GRCm39)	splice site	probably benign
R3878:Ttc7	UTSW	17	87,678,166 (GRCm39)	intron	probably benign
R3934:Ttc7	UTSW	17	87,678,166 (GRCm39)	intron	probably benign
R4007:Ttc7	UTSW	17	87,597,679 (GRCm39)	missense	possibly damaging	0.69
R4256:Ttc7	UTSW	17	87,628,829 (GRCm39)	critical splice acceptor site	probably null
R4671:Ttc7	UTSW	17	87,654,048 (GRCm39)	missense	probably damaging	1.00
R4676:Ttc7	UTSW	17	87,678,163 (GRCm39)	intron	probably benign
R4677:Ttc7	UTSW	17	87,678,163 (GRCm39)	intron	probably benign
R4784:Ttc7	UTSW	17	87,648,325 (GRCm39)	missense	probably benign	0.03
R4833:Ttc7	UTSW	17	87,641,749 (GRCm39)	missense	probably damaging	1.00
R4927:Ttc7	UTSW	17	87,654,133 (GRCm39)	splice site	probably null
R4940:Ttc7	UTSW	17	87,614,386 (GRCm39)	missense	probably benign	0.02
R5634:Ttc7	UTSW	17	87,649,515 (GRCm39)	missense	probably benign
R5710:Ttc7	UTSW	17	87,597,674 (GRCm39)	missense	probably damaging	1.00
R5867:Ttc7	UTSW	17	87,629,900 (GRCm39)	missense	possibly damaging	0.49
R6437:Ttc7	UTSW	17	87,637,534 (GRCm39)	missense	probably damaging	1.00
R6982:Ttc7	UTSW	17	87,614,437 (GRCm39)	missense	probably damaging	1.00
R7299:Ttc7	UTSW	17	87,653,970 (GRCm39)	missense	possibly damaging	0.68
R7849:Ttc7	UTSW	17	87,600,374 (GRCm39)	missense	probably null	0.00
R8098:Ttc7	UTSW	17	87,641,756 (GRCm39)	missense	probably benign	0.21
R8471:Ttc7	UTSW	17	87,601,454 (GRCm39)	missense	probably benign	0.24
R8889:Ttc7	UTSW	17	87,637,520 (GRCm39)	missense	probably damaging	1.00
R8892:Ttc7	UTSW	17	87,637,520 (GRCm39)	missense	probably damaging	1.00
R9225:Ttc7	UTSW	17	87,637,502 (GRCm39)	missense	probably damaging	1.00
R9427:Ttc7	UTSW	17	87,678,147 (GRCm39)	intron	probably benign
R9436:Ttc7	UTSW	17	87,600,320 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- GATCGTCTAAGCTGTGGGAG -3'
(R):5'- CAGATGCCTGAGATCAGAGTG -3'

Sequencing Primer
(F):5'- GCAGTGTAGCACAGGCATC -3'
(R):5'- CCTGAGATCAGAGTGGGCCAG -3'

Posted On

2016-07-06