Mutagenetix > Incidental Mutation

Incidental Mutation 'R7021:Ttc14'

545605

Institutional Source

Beutler Lab

Gene Symbol

Ttc14

Ensembl Gene

ENSMUSG00000027677

Gene Name

tetratricopeptide repeat domain 14

Synonyms

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

MMRRC Submission

045122-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.385) question?

Stock #

R7021 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

33853981-33869009 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 33857646 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 249 (I249N)

Ref Sequence

ENSEMBL: ENSMUSP00000103845 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099153] [ENSMUST00000108210] [ENSMUST00000117915] [ENSMUST00000196139] [ENSMUST00000196369] [ENSMUST00000196975] [ENSMUST00000198529] [ENSMUST00000199222] [ENSMUST00000200271]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000099153
AA Change: I249N

PolyPhen 2 Score 0.098 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000096757
Gene: ENSMUSG00000027677
AA Change: I249N

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 damaging
Transcript: ENSMUST00000108210
AA Change: I249N

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000103845
Gene: ENSMUSG00000027677
AA Change: I249N

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

probably benign
Transcript: ENSMUST00000117915

SMART Domains

Protein: ENSMUSP00000112450
Gene: ENSMUSG00000027677

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: ENSMUST00000196139

SMART Domains

Protein: ENSMUSP00000143173
Gene: ENSMUSG00000027677

Domain	Start	End	E-Value	Type
low complexity region	38	54	N/A	INTRINSIC
SCOP:d1go3e_	144	217	3e-5	SMART
Blast:S1	154	217	2e-39	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000196369
AA Change: I147N

PolyPhen 2 Score 0.098 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000142863
Gene: ENSMUSG00000027677
AA Change: I147N

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
AA Change: I249N

PolyPhen 2 Score 0.281 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000143073
Gene: ENSMUSG00000027677
AA Change: I249N

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
AA Change: I249N

PolyPhen 2 Score 0.418 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000142935
Gene: ENSMUSG00000027677
AA Change: I249N

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

possibly damaging
Transcript: ENSMUST00000200271
AA Change: I246N

PolyPhen 2 Score 0.765 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000143738
Gene: ENSMUSG00000027677
AA Change: I246N

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

99% (75/76)

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AAdacl4fm3	A	C	4: 144,442,062 (GRCm39)	L63R	probably damaging	Het
Abcb5	C	T	12: 118,895,660 (GRCm39)	V379I	probably benign	Het
Adamts15	T	C	9: 30,832,776 (GRCm39)	Y253C	probably damaging	Het
Ahsa1	T	C	12: 87,318,154 (GRCm39)	S37P	possibly damaging	Het
Arnt2	A	T	7: 83,993,150 (GRCm39)	L130H	probably damaging	Het
Atp8b5	T	A	4: 43,355,618 (GRCm39)	F533I	probably damaging	Het
Best1	A	G	19: 9,964,143 (GRCm39)	V439A	probably benign	Het
Bicc1	A	G	10: 70,796,978 (GRCm39)	V127A	probably damaging	Het
Brd7	T	C	8: 89,073,632 (GRCm39)	T253A	probably benign	Het
Btd	A	G	14: 31,389,788 (GRCm39)	D503G	probably benign	Het
Ccdc80	A	G	16: 44,924,804 (GRCm39)	E646G	probably damaging	Het
Ccl25	A	G	8: 4,399,641 (GRCm39)		probably benign	Het
Ccnf	C	A	17: 24,461,205 (GRCm39)	W150L	probably damaging	Het
Cdk11b	A	T	4: 155,726,024 (GRCm39)		probably benign	Het
Cfap73	T	C	5: 120,768,149 (GRCm39)	E203G	probably benign	Het
Cmya5	T	C	13: 93,230,063 (GRCm39)	E1675G	possibly damaging	Het
Copg1	T	A	6: 87,871,087 (GRCm39)	Y268N	possibly damaging	Het
Csnk2a1	T	A	2: 152,102,732 (GRCm39)	H126Q	probably damaging	Het
Ctbs	G	A	3: 146,160,703 (GRCm39)	G90D	probably damaging	Het
Ctnna2	T	C	6: 77,613,888 (GRCm39)	Y221C	probably damaging	Het
Cypt12	C	T	3: 18,002,635 (GRCm39)	R3C	unknown	Het
D630003M21Rik	A	T	2: 158,058,670 (GRCm39)	M410K	possibly damaging	Het
Dnah9	A	T	11: 65,872,057 (GRCm39)	N2724K	probably benign	Het
Dok3	T	C	13: 55,672,097 (GRCm39)	T194A	probably benign	Het
Edem3	T	G	1: 151,631,423 (GRCm39)	S36A	probably benign	Het
Eed	C	T	7: 89,629,727 (GRCm39)	E3K	possibly damaging	Het
Efcab2	A	G	1: 178,308,925 (GRCm39)	I143V	probably benign	Het
Ensa	A	T	3: 95,534,359 (GRCm39)		probably null	Het
Galnt16	A	T	12: 80,626,826 (GRCm39)	E219V	probably damaging	Het
Gfra3	C	A	18: 34,823,933 (GRCm39)	R347L	probably benign	Het
Gm2042	T	A	12: 87,927,009 (GRCm39)	I442K	probably damaging	Het
Gpld1	A	T	13: 25,168,691 (GRCm39)	D735V	probably damaging	Het
Hspg2	T	C	4: 137,269,580 (GRCm39)	S2253P	possibly damaging	Het
Kit	T	C	5: 75,781,627 (GRCm39)	I352T	probably benign	Het
Klra6	A	T	6: 129,995,821 (GRCm39)	V179E	possibly damaging	Het
Lctl	T	A	9: 64,040,075 (GRCm39)		probably null	Het
Lman1	C	A	18: 66,124,714 (GRCm39)	V342L	probably benign	Het
Lrrn2	T	C	1: 132,866,522 (GRCm39)	L529P	probably damaging	Het
Mab21l2	A	G	3: 86,454,793 (GRCm39)	I69T	probably benign	Het
Mapkapk5	G	T	5: 121,665,274 (GRCm39)	A327E	probably benign	Het
Mex3b	G	T	7: 82,519,080 (GRCm39)	R465L	possibly damaging	Het
Mgat3	A	G	15: 80,096,655 (GRCm39)	N494S	probably damaging	Het
Mgat4c	A	G	10: 102,224,289 (GRCm39)	R168G	possibly damaging	Het
Mkks	A	G	2: 136,718,007 (GRCm39)		probably null	Het
Muc16	G	T	9: 18,466,215 (GRCm39)	H7368N	unknown	Het
Muc16	T	C	9: 18,462,127 (GRCm39)		probably null	Het
Nbeal1	G	A	1: 60,300,745 (GRCm39)		probably null	Het
Notch2	T	C	3: 98,042,762 (GRCm39)	S1376P	probably benign	Het
Obox5	A	G	7: 15,491,681 (GRCm39)		probably null	Het
Or10j5	T	C	1: 172,784,494 (GRCm39)	I44T	probably benign	Het
Or6c8b	A	T	10: 128,882,899 (GRCm39)	I11N	probably damaging	Het
Pbrm1	A	G	14: 30,789,773 (GRCm39)	I807V	probably damaging	Het
Pitrm1	T	A	13: 6,628,593 (GRCm39)	V962E	probably damaging	Het
Pkd2l1	T	C	19: 44,142,647 (GRCm39)	Q465R	probably damaging	Het
Pla1a	A	G	16: 38,221,244 (GRCm39)	I372T	probably damaging	Het
Prmt5	A	C	14: 54,752,845 (GRCm39)	F122C	probably damaging	Het
Prrc2b	T	A	2: 32,111,498 (GRCm39)	S1905T	probably damaging	Het
Ptprf	T	G	4: 118,081,101 (GRCm39)	K1163N	probably benign	Het
Rab3ip	A	G	10: 116,775,283 (GRCm39)	V25A	probably damaging	Het
Raf1	T	C	6: 115,597,300 (GRCm39)		probably null	Het
Rnf180	T	C	13: 105,407,429 (GRCm39)	E40G	probably benign	Het
Rpl6	T	A	5: 121,346,972 (GRCm39)	M289K	probably benign	Het
Slc25a32	A	G	15: 38,963,321 (GRCm39)	F167L	probably benign	Het
Slc30a2	G	A	4: 134,074,726 (GRCm39)	R161Q	probably damaging	Het
Slc4a4	T	A	5: 89,188,205 (GRCm39)		probably null	Het
Sppl2a	A	G	2: 126,769,663 (GRCm39)		probably null	Het
Tbr1	T	A	2: 61,637,688 (GRCm39)	D82E	probably benign	Het
Tbx10	A	T	19: 4,048,961 (GRCm39)	T291S	probably benign	Het
Tlr1	T	A	5: 65,083,056 (GRCm39)	H507L	possibly damaging	Het
Trim37	A	C	11: 87,058,335 (GRCm39)	T338P	probably benign	Het
Trpv5	T	C	6: 41,630,204 (GRCm39)	T629A	probably benign	Het
Uhrf1	A	G	17: 56,627,450 (GRCm39)	T661A	probably benign	Het
Vmn2r65	A	G	7: 84,596,587 (GRCm39)	I156T	probably benign	Het
Vwde	T	C	6: 13,186,905 (GRCm39)	N861D	probably damaging	Het
Zan	A	G	5: 137,422,213 (GRCm39)	C2802R	unknown	Het

Other mutations in Ttc14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01154:Ttc14	APN	3	33,857,248 (GRCm39)	missense	probably benign	0.35
IGL01326:Ttc14	APN	3	33,855,507 (GRCm39)	missense	probably benign	0.14
R0196:Ttc14	UTSW	3	33,863,403 (GRCm39)	unclassified	probably benign
R0427:Ttc14	UTSW	3	33,857,633 (GRCm39)	missense	probably damaging	1.00
R1713:Ttc14	UTSW	3	33,857,069 (GRCm39)	missense	probably damaging	1.00
R2312:Ttc14	UTSW	3	33,861,984 (GRCm39)	splice site	probably null
R2434:Ttc14	UTSW	3	33,855,227 (GRCm39)	missense	probably benign	0.40
R4794:Ttc14	UTSW	3	33,857,298 (GRCm39)	missense	probably benign	0.00
R4825:Ttc14	UTSW	3	33,855,518 (GRCm39)	missense	possibly damaging	0.88
R4888:Ttc14	UTSW	3	33,861,024 (GRCm39)	nonsense	probably null
R5143:Ttc14	UTSW	3	33,863,050 (GRCm39)	unclassified	probably benign
R6051:Ttc14	UTSW	3	33,863,073 (GRCm39)	unclassified	probably benign
R6270:Ttc14	UTSW	3	33,854,537 (GRCm39)	missense	possibly damaging	0.68
R6415:Ttc14	UTSW	3	33,857,724 (GRCm39)	missense	possibly damaging	0.81
R6439:Ttc14	UTSW	3	33,862,968 (GRCm39)	unclassified	probably benign
R7571:Ttc14	UTSW	3	33,863,400 (GRCm39)	missense	unknown
R7751:Ttc14	UTSW	3	33,863,590 (GRCm39)	missense	unknown
R8021:Ttc14	UTSW	3	33,863,270 (GRCm39)	nonsense	probably null
R8388:Ttc14	UTSW	3	33,854,735 (GRCm39)	missense	probably benign	0.01
R8884:Ttc14	UTSW	3	33,854,696 (GRCm39)	missense	unknown
R9169:Ttc14	UTSW	3	33,857,071 (GRCm39)	nonsense	probably null
R9399:Ttc14	UTSW	3	33,858,856 (GRCm39)	missense	possibly damaging	0.62
R9438:Ttc14	UTSW	3	33,858,861 (GRCm39)	missense	probably damaging	1.00
R9537:Ttc14	UTSW	3	33,857,347 (GRCm39)	missense	probably damaging	0.96
R9663:Ttc14	UTSW	3	33,855,537 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GGCATTAGTGTTTAACCCTCCTAG -3'
(R):5'- GAGATAGGCTCACTTCACTCAAC -3'

Sequencing Primer
(F):5'- GAGTCACATTTCTAGTAAAGTCGGG -3'
(R):5'- CAACGTGTTCTTCAGCTATGTAG -3'

Posted On

2019-05-13