Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01154:Ttc14'

50818

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ttc14

Ensembl Gene

ENSMUSG00000027677

Gene Name

tetratricopeptide repeat domain 14

Synonyms

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

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.335) question?

Stock #

IGL01154

Quality Score

Status

Chromosome

Chromosomal Location

33799832-33814860 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 33803099 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 198 (Y198F)

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: Y198F

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000096757
Gene: ENSMUSG00000027677
AA Change: Y198F

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: ENSMUST00000108210
AA Change: Y198F

PolyPhen 2 Score 0.348 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000103845
Gene: ENSMUSG00000027677
AA Change: Y198F

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
AA Change: Y198F

PolyPhen 2 Score 0.118 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000112450
Gene: ENSMUSG00000027677
AA Change: Y198F

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: Y96F

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000142863
Gene: ENSMUSG00000027677
AA Change: Y96F

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: Y198F

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

SMART Domains

Protein: ENSMUSP00000142684
Gene: ENSMUSG00000027677
AA Change: Y198F

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: Y198F

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000143073
Gene: ENSMUSG00000027677
AA Change: Y198F

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: Y198F

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

SMART Domains

Protein: ENSMUSP00000142935
Gene: ENSMUSG00000027677
AA Change: Y198F

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: Y195F

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000143738
Gene: ENSMUSG00000027677
AA Change: Y195F

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110038F14Rik	G	A	15: 76,950,275	V124I	probably damaging	Het
2210408I21Rik	T	G	13: 77,281,094	F767V	probably benign	Het
A2m	C	A	6: 121,673,542	S1203*	probably null	Het
Abcc3	T	C	11: 94,359,232		probably benign	Het
Adamts13	T	C	2: 27,006,194	Y1200H	probably benign	Het
Aldh1l2	T	C	10: 83,520,373	D51G	probably damaging	Het
Apc2	A	G	10: 80,313,069	E1319G	possibly damaging	Het
Arap3	A	T	18: 37,996,734	S125T	probably benign	Het
Atp2b1	T	A	10: 98,996,888	V417E	probably damaging	Het
Bpifa1	T	A	2: 154,144,000	D78E	probably benign	Het
Catsperb	C	A	12: 101,625,681	A1090E	possibly damaging	Het
Ceacam9	C	A	7: 16,723,961	T138K	probably damaging	Het
Cenpf	T	A	1: 189,680,333	E244D	probably benign	Het
Cep135	A	T	5: 76,606,796		probably benign	Het
Cfap206	C	T	4: 34,721,562	S162N	probably damaging	Het
Col15a1	A	C	4: 47,208,450	T6P	possibly damaging	Het
Cyp11b1	T	A	15: 74,838,534	Q306L	probably benign	Het
Defa22	T	A	8: 21,163,037		probably null	Het
Dnah5	A	T	15: 28,458,656	T4480S	possibly damaging	Het
Fastkd1	T	C	2: 69,690,060		probably null	Het
Flt1	A	G	5: 147,576,156	Y1124H	possibly damaging	Het
Fsd1l	A	G	4: 53,701,074	M469V	probably benign	Het
Fxr2	T	C	11: 69,641,433		probably benign	Het
Gm10801	A	T	2: 98,663,983	Y135F	probably benign	Het
Grm4	A	T	17: 27,434,737	C699*	probably null	Het
Hcn4	A	G	9: 58,859,079	T677A	unknown	Het
Igkv9-123	G	T	6: 67,954,534		probably benign	Het
Irf4	T	A	13: 30,757,421	H253Q	possibly damaging	Het
Jakmip2	T	C	18: 43,590,679		probably benign	Het
Kmt2c	A	G	5: 25,284,399	V1134A	probably damaging	Het
Limch1	G	T	5: 66,745,958	E17*	probably null	Het
Nap1l1	T	A	10: 111,486,675	N72K	probably damaging	Het
Olfr1265	T	C	2: 90,037,468	L183P	probably damaging	Het
Olfr574	T	C	7: 102,948,839	S115P	probably damaging	Het
Otud6b	A	T	4: 14,811,732	Y304N	probably damaging	Het
Pdcd10	A	C	3: 75,541,233	M8R	probably damaging	Het
Ppip5k1	T	C	2: 121,343,179	T404A	probably damaging	Het
Ppp2r2d	C	T	7: 138,882,211	A197V	probably benign	Het
Psg25	C	T	7: 18,524,699	D351N	probably benign	Het
Sbno1	A	T	5: 124,410,249	I87N	probably damaging	Het
Stfa2l1	C	T	16: 36,159,937		probably benign	Het
Sugp2	T	A	8: 70,242,699	D107E	probably damaging	Het
Syne1	G	T	10: 5,360,848	F576L	probably damaging	Het
Syne3	A	G	12: 104,958,069	F357S	probably benign	Het
Tenm2	A	G	11: 36,041,544	L1741P	probably damaging	Het
Tgs1	A	T	4: 3,585,473	K117*	probably null	Het
Tram1	C	T	1: 13,579,449		probably null	Het
Trank1	T	A	9: 111,386,400	D1799E	probably benign	Het
Ube3b	A	G	5: 114,406,252	N570S	probably null	Het
Ube4b	A	G	4: 149,365,470	F412S	probably benign	Het
Vac14	T	C	8: 110,653,607		probably benign	Het
Vmn2r65	T	C	7: 84,943,521	T493A	probably benign	Het
Zfp408	T	C	2: 91,648,006		probably benign	Het
Zfp580	C	T	7: 5,053,268	T209I	possibly damaging	Het

Other mutations in Ttc14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R5143:Ttc14	UTSW	3	33808901	unclassified	probably benign
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
R8884:Ttc14	UTSW	3	33800547	missense	unknown
R9169:Ttc14	UTSW	3	33802922	nonsense	probably null
R9399:Ttc14	UTSW	3	33804707	missense	possibly damaging	0.62
R9438:Ttc14	UTSW	3	33804712	missense	probably damaging	1.00
R9537:Ttc14	UTSW	3	33803198	missense	probably damaging	0.96
R9663:Ttc14	UTSW	3	33801388	missense	probably benign	0.01

Posted On

2013-06-21