Mutagenetix > Incidental Mutation

Incidental Mutation 'R4940:Ttc7'

383047

Institutional Source

Beutler Lab

Gene Symbol

Ttc7

Ensembl Gene

ENSMUSG00000036918

Gene Name

tetratricopeptide repeat domain 7

Synonyms

fsn, 1700007L07Rik, 1110035E02Rik, hea

Accession Numbers

Essential gene?

Probably essential (E-score: 0.854) question?

Stock #

R4940 (G1)

Quality Score

201

Status

Not validated

Chromosome

Chromosomal Location

87590328-87689197 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 87614386 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 184 (V184F)

Ref Sequence

ENSEMBL: ENSMUSP00000040771 (fasta)

Gene Model

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

AlphaFold

Q8BGB2

Predicted Effect

probably benign
Transcript: ENSMUST00000041110
AA Change: V184F

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000040771
Gene: ENSMUSG00000036918
AA Change: V184F

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 benign
Transcript: ENSMUST00000125875
AA Change: V184F

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000115351
Gene: ENSMUSG00000036918
AA Change: V184F

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

unknown
Transcript: ENSMUST00000144204
AA Change: R203L

SMART Domains

Protein: ENSMUSP00000122563
Gene: ENSMUSG00000036918
AA Change: R203L

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

Predicted Effect

unknown
Transcript: ENSMUST00000154255
AA Change: R86L

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.5%
20x: 93.3%

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 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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931414P19Rik	T	C	14: 54,828,782 (GRCm39)	T240A	probably benign	Het
Abca15	T	C	7: 119,931,917 (GRCm39)	Y57H	probably benign	Het
Adgrf4	A	G	17: 42,977,420 (GRCm39)	I641T	possibly damaging	Het
Ankrd11	A	G	8: 123,616,560 (GRCm39)	Y2410H	probably damaging	Het
Apbb2	C	A	5: 66,609,604 (GRCm39)	L14F	probably null	Het
Arhgdia	T	C	11: 120,470,061 (GRCm39)	D204G	probably damaging	Het
Armh4	A	T	14: 50,010,939 (GRCm39)	M256K	probably benign	Het
Catsperd	A	T	17: 56,969,736 (GRCm39)	Y610F	possibly damaging	Het
Cblb	T	A	16: 51,853,466 (GRCm39)	D27E	probably damaging	Het
Ccdc180	A	T	4: 45,917,453 (GRCm39)	I893F	probably damaging	Het
Ccdc180	A	G	4: 45,917,508 (GRCm39)	H911R	probably damaging	Het
Cdh23	T	A	10: 60,143,714 (GRCm39)	I2966F	probably damaging	Het
Cfap299	A	G	5: 98,885,495 (GRCm39)	H134R	possibly damaging	Het
Chat	G	A	14: 32,141,062 (GRCm39)	P445L	probably damaging	Het
Chdh	G	T	14: 29,754,809 (GRCm39)	R273L	possibly damaging	Het
Clic3	T	C	2: 25,347,929 (GRCm39)	V72A	probably benign	Het
Cyp2d12	T	A	15: 82,442,251 (GRCm39)	D244E	probably benign	Het
Ddr1	T	A	17: 36,001,022 (GRCm39)	D241V	probably damaging	Het
Dock7	T	A	4: 98,908,314 (GRCm39)	K605N	probably damaging	Het
Dsg2	T	A	18: 20,712,487 (GRCm39)	F164I	probably damaging	Het
Dstyk	T	A	1: 132,380,844 (GRCm39)	N446K	probably damaging	Het
Epb42	A	T	2: 120,864,932 (GRCm39)	L53Q	probably damaging	Het
Extl2	G	C	3: 115,820,841 (GRCm39)	K229N	probably benign	Het
Frmd4b	T	A	6: 97,275,051 (GRCm39)	S617C	probably damaging	Het
Fscb	C	T	12: 64,520,588 (GRCm39)	V293I	probably benign	Het
Glp2r	G	T	11: 67,648,419 (GRCm39)	Y94*	probably null	Het
Gm4978	A	C	9: 69,358,154 (GRCm39)		probably benign	Het
Gm6729	A	G	10: 86,376,252 (GRCm39)		noncoding transcript	Het
Gnat2	A	C	3: 108,007,932 (GRCm39)	N293T	probably benign	Het
Herpud1	T	C	8: 95,117,470 (GRCm39)	I142T	probably benign	Het
Irak2	G	A	6: 113,670,691 (GRCm39)	V536I	probably benign	Het
Kcnu1	A	T	8: 26,387,890 (GRCm39)		probably null	Het
Kdm4a	A	G	4: 118,018,951 (GRCm39)	S422P	probably benign	Het
Lair1	T	A	7: 4,031,948 (GRCm39)	D53V	probably benign	Het
Lhx1	G	T	11: 84,410,735 (GRCm39)	Y196*	probably null	Het
Lrrc37a	G	A	11: 103,388,438 (GRCm39)	T2329I	unknown	Het
Mag	T	C	7: 30,608,625 (GRCm39)	D163G	probably damaging	Het
Magi3	A	G	3: 103,958,708 (GRCm39)	V459A	probably damaging	Het
Med13	A	G	11: 86,178,944 (GRCm39)	Y1451H	probably damaging	Het
Megf8	T	A	7: 25,060,131 (GRCm39)	C2341S	probably damaging	Het
Mppe1	A	G	18: 67,361,095 (GRCm39)	C221R	probably damaging	Het
Mtus1	T	A	8: 41,494,515 (GRCm39)	H39L	possibly damaging	Het
Nkpd1	C	T	7: 19,257,498 (GRCm39)	Q276*	probably null	Het
Nkx3-1	G	A	14: 69,428,367 (GRCm39)	G72S	probably benign	Het
Nutm2	T	C	13: 50,628,909 (GRCm39)	C658R	possibly damaging	Het
Olfm1	T	C	2: 28,112,602 (GRCm39)	V239A	possibly damaging	Het
Pcnx1	C	T	12: 81,964,567 (GRCm39)	H245Y	possibly damaging	Het
Pgm3	A	G	9: 86,441,529 (GRCm39)	L356S	probably damaging	Het
Pik3r4	C	G	9: 105,546,193 (GRCm39)	H207D	probably benign	Het
Pkd1l1	T	C	11: 8,794,585 (GRCm39)	T1859A	probably benign	Het
Pon3	A	T	6: 5,221,625 (GRCm39)	V335E	possibly damaging	Het
Ppp4r3b	A	G	11: 29,161,740 (GRCm39)	T705A	probably benign	Het
Prmt7	T	C	8: 106,963,910 (GRCm39)	V268A	probably benign	Het
Psd	C	T	19: 46,310,856 (GRCm39)	G398R	probably damaging	Het
Pygl	A	G	12: 70,253,155 (GRCm39)	V188A	probably damaging	Het
Rnf13	T	A	3: 57,703,627 (GRCm39)	N110K	probably damaging	Het
Rnf170	C	T	8: 26,615,939 (GRCm39)	Q77*	probably null	Het
Rrp8	A	T	7: 105,383,284 (GRCm39)	Y327*	probably null	Het
Ruvbl2	T	C	7: 45,074,150 (GRCm39)	D228G	probably damaging	Het
Scgn	T	A	13: 24,173,807 (GRCm39)	T35S	probably benign	Het
Scyl3	C	T	1: 163,762,316 (GRCm39)	P74S	probably damaging	Het
Sec61b	T	G	4: 47,483,074 (GRCm39)	S123A	probably benign	Het
Sertad2	T	C	11: 20,597,899 (GRCm39)	S32P	possibly damaging	Het
Slc23a3	T	C	1: 75,110,447 (GRCm39)		probably null	Het
Sult2a2	T	G	7: 13,472,223 (GRCm39)	V140G	probably benign	Het
Tbc1d4	A	T	14: 101,744,667 (GRCm39)	S320T	probably benign	Het
Trabd2b	T	C	4: 114,266,141 (GRCm39)	Y52H	probably damaging	Het
Traf2	T	C	2: 25,420,300 (GRCm39)	E183G	probably null	Het
Trip10	G	T	17: 57,570,017 (GRCm39)	V561F	possibly damaging	Het
Ubc	A	G	5: 125,463,293 (GRCm39)	V678A	probably benign	Het
Unk	A	G	11: 115,944,491 (GRCm39)	E414G	possibly damaging	Het
Usp42	T	C	5: 143,705,517 (GRCm39)	N365D	probably damaging	Het
Zbtb26	A	T	2: 37,326,781 (GRCm39)	I85K	probably damaging	Het
Zfhx2	A	T	14: 55,303,891 (GRCm39)	H1364Q	possibly damaging	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
R5183:Ttc7	UTSW	17	87,600,306 (GRCm39)	missense	probably damaging	1.00
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'- GATCATTGCTTGGTCCTGGC -3'
(R):5'- ATGCTTTCTTCTAATCTCCAGGAGG -3'

Sequencing Primer
(F):5'- GGCTAACACCACTGTTGCTTCAG -3'
(R):5'- TCTTCTAATCTCCAGGAGGACAAAG -3'

Posted On

2016-04-27