Mutagenetix > Incidental Mutation

Incidental Mutation 'R8021:Ttc14'

617345

Institutional Source

Beutler Lab

Gene Symbol

Ttc14

Ensembl Gene

ENSMUSG00000027677

Gene Name

tetratricopeptide repeat domain 14

Synonyms

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

MMRRC Submission

067460-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.378) question?

Stock #

R8021 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

33799832-33814860 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 33809121 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 559 (Y559*)

Ref Sequence

ENSEMBL: ENSMUSP00000112450 (fasta)

Gene Model

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

AlphaFold

no structure available at present

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

probably null
Transcript: ENSMUST00000108210
AA Change: Y611*

SMART Domains

Protein: ENSMUSP00000103845
Gene: ENSMUSG00000027677
AA Change: Y611*

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 null
Transcript: ENSMUST00000117915
AA Change: Y559*

SMART Domains

Protein: ENSMUSP00000112450
Gene: ENSMUSG00000027677
AA Change: Y559*

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

97% (74/76)

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810010H24Rik	A	G	11: 107,025,927 (GRCm38)	I12V	unknown	Het
9130011E15Rik	C	T	19: 45,956,741 (GRCm38)		probably null	Het
A630010A05Rik	C	T	16: 14,589,246 (GRCm38)	T13I		Het
Acsm5	A	G	7: 119,542,393 (GRCm38)	E537G	possibly damaging	Het
Adam25	C	A	8: 40,754,759 (GRCm38)	A354E	probably damaging	Het
Adamts3	T	C	5: 89,683,184 (GRCm38)	K1004E	possibly damaging	Het
Ap3d1	C	A	10: 80,714,301 (GRCm38)	V699L	probably benign	Het
Arel1	T	G	12: 84,934,958 (GRCm38)	H216P	possibly damaging	Het
Armc12	T	A	17: 28,530,905 (GRCm38)	F8I	probably benign	Het
Ascc3	T	A	10: 50,731,648 (GRCm38)	M1416K	probably benign	Het
Catsperb	A	C	12: 101,588,063 (GRCm38)	N672T	probably benign	Het
Ccdc30	T	C	4: 119,352,679 (GRCm38)	H291R	probably benign	Het
Cd33	A	G	7: 43,528,838 (GRCm38)	V371A	unknown	Het
Cpt1b	A	T	15: 89,421,426 (GRCm38)	M362K	probably benign	Het
Dusp5	T	A	19: 53,529,498 (GRCm38)	S61T	probably benign	Het
Eogt	T	G	6: 97,134,330 (GRCm38)	D190A	probably damaging	Het
Fat3	T	A	9: 15,999,109 (GRCm38)	I1866F	probably damaging	Het
Fer1l4	T	A	2: 156,022,591 (GRCm38)	I1668F	probably damaging	Het
Foxn3	A	T	12: 99,388,902 (GRCm38)	M1K	probably null	Het
Frs3	T	A	17: 47,703,114 (GRCm38)	V244E	probably damaging	Het
Gm8765	A	G	13: 50,701,094 (GRCm38)	N256S	possibly damaging	Het
Grik1	C	T	16: 87,914,222 (GRCm38)	V832I		Het
Gtf2ird2	T	A	5: 134,203,334 (GRCm38)	V242E	probably benign	Het
Gtpbp2	C	T	17: 46,164,269 (GRCm38)	R97C	possibly damaging	Het
Habp2	T	A	19: 56,314,053 (GRCm38)	V263E	probably benign	Het
Iars2	T	A	1: 185,322,457 (GRCm38)	I337L	probably benign	Het
Ifi204	T	C	1: 173,759,353 (GRCm38)		probably benign	Het
Itih2	T	C	2: 10,105,652 (GRCm38)	T543A	probably benign	Het
Kdm2b	A	G	5: 122,932,919 (GRCm38)	S372P	probably damaging	Het
Kit	T	A	5: 75,615,491 (GRCm38)	V311E	possibly damaging	Het
Kmt2c	C	G	5: 25,287,119 (GRCm38)	V4230L	possibly damaging	Het
Lao1	T	C	4: 118,968,477 (GRCm38)	I498T	probably damaging	Het
Lrp1	G	T	10: 127,548,346 (GRCm38)	D3641E	possibly damaging	Het
Mapk8ip1	A	T	2: 92,386,415 (GRCm38)	S477T	possibly damaging	Het
Mast3	C	T	8: 70,788,252 (GRCm38)	G218S	probably benign	Het
Mical1	T	C	10: 41,482,724 (GRCm38)	V546A	probably damaging	Het
Nck2	T	C	1: 43,554,260 (GRCm38)	V209A	probably benign	Het
Ndufs4	A	G	13: 114,307,815 (GRCm38)		probably null	Het
Nek3	C	T	8: 22,157,190 (GRCm38)	V139M	probably damaging	Het
Olfr1417	T	C	19: 11,828,892 (GRCm38)	I45V	probably benign	Het
Olfr863-ps1	A	C	9: 19,942,079 (GRCm38)	Y120*	probably null	Het
Olfr877	T	A	9: 37,855,296 (GRCm38)	H159Q	probably damaging	Het
Olfr994	A	T	2: 85,430,652 (GRCm38)	M59K	probably damaging	Het
Otog	A	T	7: 46,267,342 (GRCm38)	N901I	probably damaging	Het
Pclo	A	C	5: 14,539,784 (GRCm38)	Q699H	unknown	Het
Pcnx	C	T	12: 81,918,819 (GRCm38)	R59*	probably null	Het
Pde12	A	T	14: 26,665,699 (GRCm38)	Y551*	probably null	Het
Pigg	A	G	5: 108,319,939 (GRCm38)	D268G	probably damaging	Het
Ppp1r21	A	G	17: 88,549,507 (GRCm38)	D130G	probably benign	Het
Psip1	T	C	4: 83,459,955 (GRCm38)	T435A	possibly damaging	Het
Rad54l2	T	C	9: 106,719,641 (GRCm38)	S189G	probably benign	Het
Rgs14	T	C	13: 55,383,756 (GRCm38)	C498R	probably damaging	Het
Ripply3	C	A	16: 94,328,510 (GRCm38)	A5E	probably benign	Het
Rps6ka4	T	C	19: 6,830,409 (GRCm38)	D676G	probably benign	Het
Rsbn1	T	C	3: 103,928,582 (GRCm38)	L312S	possibly damaging	Het
Secisbp2	T	A	13: 51,665,628 (GRCm38)	*415R	probably null	Het
Sephs1	T	A	2: 4,906,623 (GRCm38)	F336Y	probably benign	Het
Setdb2	A	T	14: 59,423,384 (GRCm38)	Y103*	probably null	Het
Slit2	T	A	5: 48,302,492 (GRCm38)	C1371*	probably null	Het
Stab2	C	T	10: 86,905,539 (GRCm38)	A1239T	possibly damaging	Het
Taf4b	T	A	18: 14,804,524 (GRCm38)	V218E	probably damaging	Het
Tars2	T	C	3: 95,747,514 (GRCm38)	N393S	probably benign	Het
Tbc1d30	A	G	10: 121,267,543 (GRCm38)	M528T	probably benign	Het
Tchp	A	G	5: 114,718,417 (GRCm38)	E363G	probably damaging	Het
Tec	T	A	5: 72,757,469 (GRCm38)	N568I	probably benign	Het
Ticam1	A	G	17: 56,270,089 (GRCm38)	S669P	unknown	Het
Tnk1	A	G	11: 69,854,984 (GRCm38)	S372P	probably benign	Het
Tnpo2	G	A	8: 85,055,206 (GRCm38)	A847T	probably damaging	Het
Tsc1	A	T	2: 28,686,889 (GRCm38)	I1068F	possibly damaging	Het
Ttc41	C	A	10: 86,733,714 (GRCm38)	T652N	probably benign	Het
Tut1	T	A	19: 8,955,509 (GRCm38)	S69T	probably benign	Het
Uck1	T	C	2: 32,259,917 (GRCm38)	S40G	probably benign	Het
Vmn2r76	G	A	7: 86,225,750 (GRCm38)	T673I	probably damaging	Het
Vps13d	G	T	4: 145,148,675 (GRCm38)	P1760H		Het
Zbp1	T	C	2: 173,209,210 (GRCm38)	N289S	possibly damaging	Het
Zc3hav1l	C	A	6: 38,297,947 (GRCm38)		probably benign	Het
Zzef1	A	T	11: 72,823,416 (GRCm38)	D244V	probably damaging	Het

Other mutations in Ttc14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01154:Ttc14	APN	3	33,803,099 (GRCm38)	missense	probably benign	0.35
IGL01326:Ttc14	APN	3	33,801,358 (GRCm38)	missense	probably benign	0.14
R0196:Ttc14	UTSW	3	33,809,254 (GRCm38)	unclassified	probably benign
R0427:Ttc14	UTSW	3	33,803,484 (GRCm38)	missense	probably damaging	1.00
R1713:Ttc14	UTSW	3	33,802,920 (GRCm38)	missense	probably damaging	1.00
R2312:Ttc14	UTSW	3	33,807,835 (GRCm38)	splice site	probably null
R2434:Ttc14	UTSW	3	33,801,078 (GRCm38)	missense	probably benign	0.40
R4794:Ttc14	UTSW	3	33,803,149 (GRCm38)	missense	probably benign	0.00
R4825:Ttc14	UTSW	3	33,801,369 (GRCm38)	missense	possibly damaging	0.88
R4888:Ttc14	UTSW	3	33,806,875 (GRCm38)	nonsense	probably null
R5143:Ttc14	UTSW	3	33,808,901 (GRCm38)	unclassified	probably benign
R6051:Ttc14	UTSW	3	33,808,924 (GRCm38)	unclassified	probably benign
R6270:Ttc14	UTSW	3	33,800,388 (GRCm38)	missense	possibly damaging	0.68
R6415:Ttc14	UTSW	3	33,803,575 (GRCm38)	missense	possibly damaging	0.81
R6439:Ttc14	UTSW	3	33,808,819 (GRCm38)	unclassified	probably benign
R7021:Ttc14	UTSW	3	33,803,497 (GRCm38)	missense	probably damaging	0.99
R7571:Ttc14	UTSW	3	33,809,251 (GRCm38)	missense	unknown
R7751:Ttc14	UTSW	3	33,809,441 (GRCm38)	missense	unknown
R8388:Ttc14	UTSW	3	33,800,586 (GRCm38)	missense	probably benign	0.01
R8884:Ttc14	UTSW	3	33,800,547 (GRCm38)	missense	unknown
R9169:Ttc14	UTSW	3	33,802,922 (GRCm38)	nonsense	probably null
R9399:Ttc14	UTSW	3	33,804,707 (GRCm38)	missense	possibly damaging	0.62
R9438:Ttc14	UTSW	3	33,804,712 (GRCm38)	missense	probably damaging	1.00
R9537:Ttc14	UTSW	3	33,803,198 (GRCm38)	missense	probably damaging	0.96
R9663:Ttc14	UTSW	3	33,801,388 (GRCm38)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TGATTGCTACCCAGTTCCAAC -3'
(R):5'- TCTGAACTTGCTGGTGAAGTAGAG -3'

Sequencing Primer
(F):5'- GATTGCTACCCAGTTCCAACTAATAC -3'
(R):5'- GAGTACTTCACAGAACTTGGCTC -3'

Posted On

2020-01-23