Mutagenetix > Incidental Mutations

Incidental Mutation 'R5143:Ttc14'

396512

Institutional Source

Beutler Lab

Gene Symbol

Ttc14

Ensembl Gene

ENSMUSG00000027677

Gene Name

tetratricopeptide repeat domain 14

Synonyms

cI-44, 2700016E08Rik, 4930434D01Rik, 4931403I22Rik, 4933402I15Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.133) question?

Stock #

R5143 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

33799832-33814860 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 33808901 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000143738 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029222] [ENSMUST00000099153] [ENSMUST00000108210] [ENSMUST00000117915] [ENSMUST00000196369] [ENSMUST00000196975] [ENSMUST00000198529] [ENSMUST00000199222] [ENSMUST00000200271]

Predicted Effect

probably benign
Transcript: ENSMUST00000029222

SMART Domains

Protein: ENSMUSP00000029222
Gene: ENSMUSG00000027676

Domain	Start	End	E-Value	Type
coiled coil region	16	67	N/A	INTRINSIC
coiled coil region	164	198	N/A	INTRINSIC
coiled coil region	232	339	N/A	INTRINSIC
low complexity region	381	393	N/A	INTRINSIC
internal_repeat_1	569	603	1.19e-5	PROSPERO
internal_repeat_1	598	635	1.19e-5	PROSPERO
coiled coil region	664	704	N/A	INTRINSIC
coiled coil region	726	766	N/A	INTRINSIC
low complexity region	873	889	N/A	INTRINSIC
low complexity region	915	928	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000099153

SMART Domains

Protein: ENSMUSP00000096757
Gene: ENSMUSG00000027677

Domain	Start	End	E-Value	Type
low complexity region	38	56	N/A	INTRINSIC
S1	123	207	7.28e-2	SMART
TPR	306	339	6.19e-1	SMART
TPR	340	373	2.11e-3	SMART
TPR	381	414	1.88e0	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000108210
AA Change: V538A

SMART Domains

Protein: ENSMUSP00000103845
Gene: ENSMUSG00000027677
AA Change: V538A

Domain	Start	End	E-Value	Type
low complexity region	38	56	N/A	INTRINSIC
S1	123	207	7.28e-2	SMART
TPR	306	339	6.19e-1	SMART
TPR	340	373	2.11e-3	SMART
TPR	381	414	1.88e0	SMART
coiled coil region	415	476	N/A	INTRINSIC
low complexity region	617	630	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000117915
AA Change: V486A

SMART Domains

Protein: ENSMUSP00000112450
Gene: ENSMUSG00000027677
AA Change: V486A

Domain	Start	End	E-Value	Type
low complexity region	38	56	N/A	INTRINSIC
S1	123	207	7.28e-2	SMART
TPR	254	287	6.19e-1	SMART
TPR	288	321	2.11e-3	SMART
TPR	329	362	1.88e0	SMART
coiled coil region	363	424	N/A	INTRINSIC
low complexity region	565	578	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000196369

SMART Domains

Protein: ENSMUSP00000142863
Gene: ENSMUSG00000027677

Domain	Start	End	E-Value	Type
S1	21	105	7.28e-2	SMART
TPR	204	237	6.19e-1	SMART
TPR	238	271	2.11e-3	SMART
TPR	279	312	1.88e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000196975

SMART Domains

Protein: ENSMUSP00000142684
Gene: ENSMUSG00000027677

Domain	Start	End	E-Value	Type
low complexity region	38	56	N/A	INTRINSIC
S1	123	207	4.6e-4	SMART
TPR	254	287	3e-3	SMART
TPR	288	321	1e-5	SMART
TPR	329	362	9e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000198529

SMART Domains

Protein: ENSMUSP00000143073
Gene: ENSMUSG00000027677

Domain	Start	End	E-Value	Type
low complexity region	38	56	N/A	INTRINSIC
S1	123	207	7.28e-2	SMART
Pfam:TPR_11	304	371	2.1e-12	PFAM
Pfam:TPR_2	306	339	1.9e-4	PFAM
Pfam:TPR_1	308	339	1.3e-4	PFAM
Pfam:TPR_1	340	373	2.9e-5	PFAM
Pfam:TPR_2	340	373	6.8e-4	PFAM
low complexity region	395	408	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000199222

SMART Domains

Protein: ENSMUSP00000142935
Gene: ENSMUSG00000027677

Domain	Start	End	E-Value	Type
low complexity region	38	56	N/A	INTRINSIC
S1	123	207	7.28e-2	SMART
TPR	306	339	6.19e-1	SMART
TPR	340	373	2.11e-3	SMART
TPR	381	414	1.88e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000200271

SMART Domains

Protein: ENSMUSP00000143738
Gene: ENSMUSG00000027677

Domain	Start	End	E-Value	Type
S1	120	204	7.28e-2	SMART
TPR	303	336	6.19e-1	SMART
TPR	337	370	2.11e-3	SMART
TPR	378	411	1.88e0	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200536

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	C	T	5: 109,739,198		probably null	Het
Abcc2	T	C	19: 43,821,661	I886T	probably benign	Het
Adrb2	T	C	18: 62,178,776	Y326C	probably damaging	Het
AF366264	A	G	8: 13,836,844	S416P	possibly damaging	Het
Aplp1	G	A	7: 30,441,123	R334C	probably damaging	Het
AY358078	T	C	14: 51,802,549	S39P	unknown	Het
Bpifb2	A	T	2: 153,878,504	D61V	probably damaging	Het
Caap1	A	T	4: 94,501,382	N238K	probably damaging	Het
Cfap54	A	G	10: 93,029,158	V726A	possibly damaging	Het
Chrna7	T	C	7: 63,106,147	Y217C	probably damaging	Het
Crocc	T	A	4: 141,041,039	T414S	probably benign	Het
Cyp2a12	A	G	7: 27,036,611	I482V	probably benign	Het
Dnah6	A	T	6: 73,181,761	F620I	possibly damaging	Het
Eogt	A	G	6: 97,125,584	L256P	probably damaging	Het
F5	A	G	1: 164,211,828	I2002M	probably damaging	Het
Foxp1	A	G	6: 98,945,532		probably null	Het
Fut8	A	G	12: 77,365,209	D111G	probably benign	Het
Gm17689	T	A	9: 36,581,904	N41Y	probably benign	Het
Golgb1	C	T	16: 36,898,689	A319V	probably benign	Het
Hoxd3	C	T	2: 74,746,372	R39C	probably damaging	Het
Mfng	C	T	15: 78,764,388	R163H	probably benign	Het
Olfr690	T	A	7: 105,329,524	I223F	probably damaging	Het
Pcdhb2	A	G	18: 37,296,732	Y586C	probably damaging	Het
Plcd1	G	A	9: 119,074,451	Q442*	probably null	Het
Plppr5	A	G	3: 117,625,903	T207A	probably benign	Het
Pomt1	C	A	2: 32,254,329	A709E	probably benign	Het
Prmt8	A	G	6: 127,732,714	M61T	probably benign	Het
Ptpn23	A	G	9: 110,385,438		probably benign	Het
Sbf2	T	A	7: 110,422,540	K493*	probably null	Het
Tmc2	A	T	2: 130,234,818	S355C	probably damaging	Het
Tonsl	A	G	15: 76,636,657	S399P	possibly damaging	Het
Ttn	A	G	2: 76,738,065	S19168P	probably damaging	Het
Usp17lb	A	T	7: 104,841,478	S80T	probably damaging	Het
Vmn2r96	A	G	17: 18,583,858	I457V	possibly damaging	Het
Wdr64	G	T	1: 175,726,413	D170Y	probably damaging	Het
Zbtb42	T	C	12: 112,679,514	V41A	probably damaging	Het

Other mutations in Ttc14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01154:Ttc14	APN	3	33803099	missense	probably benign	0.35
IGL01326:Ttc14	APN	3	33801358	missense	probably benign	0.14
R0196:Ttc14	UTSW	3	33809254	unclassified	probably benign
R0427:Ttc14	UTSW	3	33803484	missense	probably damaging	1.00
R1713:Ttc14	UTSW	3	33802920	missense	probably damaging	1.00
R2312:Ttc14	UTSW	3	33807835	splice site	probably null
R2434:Ttc14	UTSW	3	33801078	missense	probably benign	0.40
R4794:Ttc14	UTSW	3	33803149	missense	probably benign	0.00
R4825:Ttc14	UTSW	3	33801369	missense	possibly damaging	0.88
R4888:Ttc14	UTSW	3	33806875	nonsense	probably null
R6051:Ttc14	UTSW	3	33808924	unclassified	probably benign
R6270:Ttc14	UTSW	3	33800388	missense	possibly damaging	0.68
R6415:Ttc14	UTSW	3	33803575	missense	possibly damaging	0.81
R6439:Ttc14	UTSW	3	33808819	unclassified	probably benign
R7021:Ttc14	UTSW	3	33803497	missense	probably damaging	0.99
R7571:Ttc14	UTSW	3	33809251	missense	unknown
R7751:Ttc14	UTSW	3	33809441	missense	unknown
R8021:Ttc14	UTSW	3	33809121	nonsense	probably null
R8388:Ttc14	UTSW	3	33800586	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- AACGTGTCTGATGAGCCAAC -3'
(R):5'- ACCTGCCTGGGTTTTATAGCTATTG -3'

Sequencing Primer
(F):5'- TCAAGTGTTTCTTCTGCTGATGAATC -3'
(R):5'- TATTGTAAAAATCTGACCTACCTCCC -3'

Posted On

2016-06-21