Mutagenetix > Incidental Mutation

Incidental Mutation 'R4825:Ttc14'

371363

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

042441-MU

Accession Numbers

Essential gene?

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

Stock #

R4825 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

33799832-33814860 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 33801369 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 154 (D154E)

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: D154E

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000096757
Gene: ENSMUSG00000027677
AA Change: D154E

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: ENSMUST00000108210
AA Change: D154E

PolyPhen 2 Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000103845
Gene: ENSMUSG00000027677
AA Change: D154E

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

possibly damaging
Transcript: ENSMUST00000117915
AA Change: D154E

PolyPhen 2 Score 0.811 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000112450
Gene: ENSMUSG00000027677
AA Change: D154E

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
AA Change: D185E

PolyPhen 2 Score 0.110 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000143173
Gene: ENSMUSG00000027677
AA Change: D185E

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: D52E

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000142863
Gene: ENSMUSG00000027677
AA Change: D52E

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
AA Change: D154E

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000142684
Gene: ENSMUSG00000027677
AA Change: D154E

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

noncoding transcript
Transcript: ENSMUST00000197592

Predicted Effect

probably benign
Transcript: ENSMUST00000198529
AA Change: D154E

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000143073
Gene: ENSMUSG00000027677
AA Change: D154E

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: D154E

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000142935
Gene: ENSMUSG00000027677
AA Change: D154E

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

noncoding transcript
Transcript: ENSMUST00000199523

Predicted Effect

probably benign
Transcript: ENSMUST00000200271
AA Change: D151E

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000143738
Gene: ENSMUSG00000027677
AA Change: D151E

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: ENSMUST00000200559

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.8%
20x: 93.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 130 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	C	A	11: 109,791,672 (GRCm38)	L229F	probably benign	Het
A930002H24Rik	A	C	17: 63,863,608 (GRCm38)	S62A	unknown	Het
Abca12	T	A	1: 71,302,685 (GRCm38)	Q1039L	possibly damaging	Het
Adgrg5	T	A	8: 94,941,734 (GRCm38)	F476I	possibly damaging	Het
AI314180	G	A	4: 58,850,911 (GRCm38)	L421F	probably damaging	Het
Alms1	A	G	6: 85,678,245 (GRCm38)	K2789E	probably damaging	Het
Arrdc2	G	A	8: 70,839,277 (GRCm38)		probably null	Het
Atp2b1	T	A	10: 99,009,564 (GRCm38)	I743K	probably damaging	Het
Atp6v1c2	C	T	12: 17,289,060 (GRCm38)	G230D	probably benign	Het
AU040320	G	A	4: 126,791,793 (GRCm38)	C54Y	probably damaging	Het
BC024139	C	T	15: 76,120,317 (GRCm38)	V680I	possibly damaging	Het
Bckdhb	A	G	9: 83,988,905 (GRCm38)	D156G	probably damaging	Het
Canx	T	A	11: 50,308,809 (GRCm38)	D143V	probably benign	Het
Ccdc180	T	A	4: 45,912,794 (GRCm38)	V591E	possibly damaging	Het
Ccno	T	C	13: 112,988,099 (GRCm38)	S68P	probably benign	Het
Cdc45	C	T	16: 18,784,863 (GRCm38)	E527K	probably damaging	Het
Cep290	T	A	10: 100,488,348 (GRCm38)	D14E	probably damaging	Het
Cgnl1	A	G	9: 71,630,524 (GRCm38)	V1238A	probably benign	Het
Ciz1	C	T	2: 32,371,741 (GRCm38)	A455V	probably damaging	Het
Coro2b	T	A	9: 62,454,623 (GRCm38)	Y86F	probably benign	Het
Csf2ra	C	T	19: 61,226,552 (GRCm38)	R158Q	probably benign	Het
Cubn	A	T	2: 13,325,225 (GRCm38)	I2615N	probably damaging	Het
Dhx8	C	T	11: 101,738,170 (GRCm38)	R129*	probably null	Het
Disc1	T	A	8: 125,135,302 (GRCm38)	M471K	possibly damaging	Het
Dmxl2	G	T	9: 54,404,041 (GRCm38)	L1799I	probably benign	Het
Dnah2	A	G	11: 69,423,205 (GRCm38)	S4108P	probably damaging	Het
Ehmt2	C	G	17: 34,906,964 (GRCm38)	P211R	probably benign	Het
Eif4g3	A	G	4: 138,194,081 (GRCm38)	D1557G	probably benign	Het
Epha5	T	C	5: 84,233,840 (GRCm38)	D384G	probably damaging	Het
Etl4	A	G	2: 20,806,927 (GRCm38)	I1274V	probably damaging	Het
Fam160a1	G	A	3: 85,673,432 (GRCm38)	P489S	possibly damaging	Het
Fip1l1	G	A	5: 74,588,205 (GRCm38)		probably null	Het
Fubp1	T	C	3: 152,217,890 (GRCm38)		probably null	Het
Glul	T	C	1: 153,903,044 (GRCm38)	V33A	probably benign	Het
Gm4846	A	G	1: 166,491,668 (GRCm38)	F167S	probably damaging	Het
Heatr6	T	A	11: 83,758,322 (GRCm38)	L168M	probably damaging	Het
Hif1a	T	A	12: 73,932,401 (GRCm38)	I233N	probably damaging	Het
Hivep2	T	A	10: 14,131,319 (GRCm38)	H1220Q	possibly damaging	Het
Igkv8-21	T	C	6: 70,315,426 (GRCm38)	I9M	probably benign	Het
Izumo1	T	A	7: 45,624,987 (GRCm38)	C62*	probably null	Het
Jakmip3	G	A	7: 139,026,766 (GRCm38)	E424K	probably damaging	Het
Klhl2	A	G	8: 64,752,813 (GRCm38)	V358A	probably damaging	Het
Klk10	C	G	7: 43,783,598 (GRCm38)	D139E	probably damaging	Het
Klk14	T	C	7: 43,692,076 (GRCm38)	C51R	probably damaging	Het
Klk5	T	G	7: 43,845,390 (GRCm38)	I99S	probably damaging	Het
L3hypdh	T	C	12: 72,077,393 (GRCm38)	T258A	probably benign	Het
Lrp5	A	G	19: 3,614,292 (GRCm38)	Y812H	probably damaging	Het
Lrrc40	T	A	3: 158,061,330 (GRCm38)	L474*	probably null	Het
Mkks	A	T	2: 136,880,655 (GRCm38)	M194K	probably benign	Het
Mmp20	A	G	9: 7,654,120 (GRCm38)	D347G	probably damaging	Het
Mmp27	A	G	9: 7,581,194 (GRCm38)	E460G	probably damaging	Het
Mms22l	T	C	4: 24,536,226 (GRCm38)	F605S	probably damaging	Het
Mpzl3	A	G	9: 45,068,329 (GRCm38)	S193G	probably benign	Het
Muc4	A	T	16: 32,751,747 (GRCm38)	T542S	probably benign	Het
Muc5b	T	C	7: 141,868,465 (GRCm38)	L4446P	possibly damaging	Het
Mxi1	C	A	19: 53,370,338 (GRCm38)	S131*	probably null	Het
Nanog	G	T	6: 122,713,340 (GRCm38)	A210S	probably benign	Het
Nrcam	C	T	12: 44,575,986 (GRCm38)	Q988*	probably null	Het
Nsg1	C	A	5: 38,159,047 (GRCm38)		probably benign	Het
Ogfod3	G	A	11: 121,195,201 (GRCm38)	A189V	probably benign	Het
Olfr1121	T	A	2: 87,372,088 (GRCm38)	C185*	probably null	Het
Olfr1228	T	C	2: 89,248,690 (GRCm38)		probably null	Het
Olfr1240	A	G	2: 89,439,865 (GRCm38)	V138A	probably benign	Het
Olfr1260	G	A	2: 89,978,153 (GRCm38)	C125Y	probably damaging	Het
Olfr1465	A	T	19: 13,314,320 (GRCm38)		probably null	Het
Olfr548-ps1	T	A	7: 102,542,380 (GRCm38)	V148E	possibly damaging	Het
Olfr58	T	G	9: 19,783,576 (GRCm38)	S148A	possibly damaging	Het
Olfr632	T	C	7: 103,937,503 (GRCm38)	V41A	probably benign	Het
Olfr920	A	T	9: 38,756,407 (GRCm38)	T240S	probably damaging	Het
Olfr980	A	T	9: 40,006,742 (GRCm38)	M69K	possibly damaging	Het
Orc3	A	T	4: 34,571,774 (GRCm38)	M665K	possibly damaging	Het
Pabpc1	A	G	15: 36,597,011 (GRCm38)	S591P	probably damaging	Het
Parp6	T	A	9: 59,624,362 (GRCm38)		probably null	Het
Pcdh1	T	C	18: 38,189,859 (GRCm38)	M974V	possibly damaging	Het
Pcdhb22	T	A	18: 37,520,660 (GRCm38)	V727E	possibly damaging	Het
Pex5l	T	C	3: 32,992,985 (GRCm38)	E272G	probably damaging	Het
Pglyrp2	G	T	17: 32,418,261 (GRCm38)	N264K	probably benign	Het
Phxr4	T	A	9: 13,431,586 (GRCm38)		probably benign	Het
Piezo2	A	G	18: 63,144,954 (GRCm38)	F293S	probably damaging	Het
Pkhd1	T	C	1: 20,537,401 (GRCm38)	D1077G	probably damaging	Het
Plekhs1	A	G	19: 56,473,268 (GRCm38)		probably null	Het
Prex1	G	T	2: 166,585,857 (GRCm38)	C788*	probably null	Het
Prrt3	A	T	6: 113,498,138 (GRCm38)	M41K	probably benign	Het
Ptgir	T	C	7: 16,908,843 (GRCm38)	V326A	probably damaging	Het
Ptprg	T	A	14: 12,220,654 (GRCm38)	D455E	probably damaging	Het
Ptpru	T	A	4: 131,799,603 (GRCm38)	Q686L	probably benign	Het
Pxdc1	G	T	13: 34,630,360 (GRCm38)	T190K	probably benign	Het
Rap1b	A	T	10: 117,818,582 (GRCm38)	C118S	probably benign	Het
Rapgef2	T	C	3: 79,083,227 (GRCm38)	M915V	probably benign	Het
Rnd2	C	T	11: 101,468,999 (GRCm38)	L57F	probably damaging	Het
Rpe65	C	T	3: 159,624,681 (GRCm38)	A495V	probably benign	Het
Samd15	A	G	12: 87,200,834 (GRCm38)	T98A	possibly damaging	Het
Sdk1	T	G	5: 141,582,294 (GRCm38)	D82E	probably benign	Het
Slc26a7	T	C	4: 14,546,309 (GRCm38)	D340G	probably benign	Het
Slc6a15	T	A	10: 103,418,060 (GRCm38)	M619K	probably benign	Het
Slc7a4	C	A	16: 17,574,521 (GRCm38)	D350Y	probably damaging	Het
Slk	T	G	19: 47,619,956 (GRCm38)	N449K	probably benign	Het
Spta1	A	T	1: 174,244,042 (GRCm38)		probably null	Het
Sptbn5	A	T	2: 120,055,893 (GRCm38)		probably benign	Het
Srd5a2	A	T	17: 74,047,805 (GRCm38)	V8D	probably benign	Het
Srgap3	G	A	6: 112,727,310 (GRCm38)	A906V	probably benign	Het
Stab2	A	T	10: 86,947,147 (GRCm38)	M679K	probably benign	Het
Stk3	T	C	15: 34,999,908 (GRCm38)	I291V	probably benign	Het
Supt6	T	A	11: 78,208,134 (GRCm38)	Q1637L	possibly damaging	Het
Svil	T	C	18: 5,114,564 (GRCm38)	F2047S	probably damaging	Het
Swsap1	A	G	9: 21,955,988 (GRCm38)	E76G	probably benign	Het
Syndig1	G	T	2: 149,899,553 (GRCm38)	G20C	probably damaging	Het
Synj2bp	A	T	12: 81,502,152 (GRCm38)	N104K	probably damaging	Het
Synpo2	T	A	3: 123,114,419 (GRCm38)	D416V	probably damaging	Het
Tacc3	G	T	5: 33,672,013 (GRCm38)	C620F	probably damaging	Het
Tanc1	A	G	2: 59,699,422 (GRCm38)	E19G	probably damaging	Het
Tarsl2	C	T	7: 65,647,554 (GRCm38)	A139V	probably benign	Het
Tbc1d22a	T	A	15: 86,351,734 (GRCm38)	C365S	probably damaging	Het
Tdpoz2	T	C	3: 93,652,074 (GRCm38)	H197R	possibly damaging	Het
Tha1	A	T	11: 117,869,379 (GRCm38)	N300K	probably damaging	Het
Tm6sf1	T	A	7: 81,865,260 (GRCm38)	F70L	probably damaging	Het
Tmem132b	T	A	5: 125,783,433 (GRCm38)	S581T	probably benign	Het
Tmem206	A	T	1: 191,340,843 (GRCm38)	I154F	probably damaging	Het
Tnfsf13	G	T	11: 69,685,249 (GRCm38)	S4*	probably null	Het
Tonsl	G	A	15: 76,633,248 (GRCm38)	S757L	probably benign	Het
Trem2	G	T	17: 48,351,691 (GRCm38)	R161S	possibly damaging	Het
Trpm2	A	T	10: 77,941,173 (GRCm38)	V430E	probably damaging	Het
Ugt2b37	T	C	5: 87,250,639 (GRCm38)	M313V	possibly damaging	Het
Uhrf1bp1	G	A	17: 27,877,394 (GRCm38)	A107T	probably damaging	Het
Vmn2r24	A	G	6: 123,815,780 (GRCm38)	I689V	probably benign	Het
Wdr76	A	G	2: 121,542,494 (GRCm38)	T601A	probably benign	Het
Xirp1	T	C	9: 120,017,003 (GRCm38)	D938G	possibly damaging	Het
Zfp608	A	T	18: 54,897,969 (GRCm38)	D966E	probably benign	Het
Zfp957	A	G	14: 79,214,356 (GRCm38)	M1T	probably null	Het
Zkscan16	A	T	4: 58,957,809 (GRCm38)	H697L	possibly 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
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
R8021:Ttc14	UTSW	3	33,809,121 (GRCm38)	nonsense	probably null
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'- TCATGCCACCCTTAGAGCAG -3'
(R):5'- CAATGGAGGAAACGTAACACTC -3'

Sequencing Primer
(F):5'- CACCCTTAGAGCAGTTCATGGAG -3'
(R):5'- CCCAATATCCTACCAGGTAA -3'

Posted On

2016-03-01