Mutagenetix > Incidental Mutation

Incidental Mutation 'R4794:Ttc14'

368830

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

042420-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.383) question?

Stock #

R4794 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

33853981-33869009 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 33857298 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 215 (M215L)

Ref Sequence

ENSEMBL: ENSMUSP00000112450 (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: M215L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000096757
Gene: ENSMUSG00000027677
AA Change: M215L

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: M215L

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000103845
Gene: ENSMUSG00000027677
AA Change: M215L

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: M215L

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000112450
Gene: ENSMUSG00000027677
AA Change: M215L

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: M113L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000142863
Gene: ENSMUSG00000027677
AA Change: M113L

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: M215L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000142684
Gene: ENSMUSG00000027677
AA Change: M215L

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: M215L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000143073
Gene: ENSMUSG00000027677
AA Change: M215L

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: M215L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000142935
Gene: ENSMUSG00000027677
AA Change: M215L

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
AA Change: M212L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000143738
Gene: ENSMUSG00000027677
AA Change: M212L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199523

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 92.5%

Validation Efficiency

97% (75/77)

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam4	A	T	12: 81,468,198 (GRCm39)	I141K	probably damaging	Het
Adgrb1	A	G	15: 74,459,978 (GRCm39)	E537G	probably damaging	Het
Asic3	C	T	5: 24,620,895 (GRCm39)	A259V	probably damaging	Het
Bcar1	G	A	8: 112,447,552 (GRCm39)	Q142*	probably null	Het
Bcas3	T	C	11: 85,400,294 (GRCm39)	V200A	probably damaging	Het
Cd302	A	T	2: 60,102,493 (GRCm39)	I42N	probably benign	Het
Colec12	C	A	18: 9,848,984 (GRCm39)	N387K	probably damaging	Het
Copa	T	A	1: 171,946,888 (GRCm39)	I1032N	probably damaging	Het
D630003M21Rik	G	C	2: 158,038,059 (GRCm39)	T1129S	probably benign	Het
D630045J12Rik	G	A	6: 38,171,420 (GRCm39)	T916I	possibly damaging	Het
Dnajb13	C	T	7: 100,153,199 (GRCm39)	A241T	probably damaging	Het
Dyrk4	G	T	6: 126,862,300 (GRCm39)	N397K	possibly damaging	Het
Eftud2	T	A	11: 102,761,003 (GRCm39)	Y114F	probably benign	Het
Elp1	ACTTCTTCTTCTTCTTCTTCTTC	ACTTCTTCTTCTTCTTCTTC	4: 56,781,176 (GRCm39)		probably benign	Het
Epm2a	A	G	10: 11,266,597 (GRCm39)	D114G	probably benign	Het
Exoc5	T	C	14: 49,286,357 (GRCm39)		probably null	Het
Fam135a	G	A	1: 24,068,241 (GRCm39)	T706I	probably benign	Het
Fasn	A	G	11: 120,702,121 (GRCm39)	V1845A	probably benign	Het
Fscn3	A	G	6: 28,430,595 (GRCm39)	E255G	probably damaging	Het
Galnt7	A	T	8: 57,998,397 (GRCm39)	Y311N	probably damaging	Het
Grid1	T	C	14: 34,544,579 (GRCm39)	L50P	probably damaging	Het
Hepacam2	A	G	6: 3,475,933 (GRCm39)	F331L	probably damaging	Het
Kalrn	C	T	16: 33,810,180 (GRCm39)	D2525N	possibly damaging	Het
Kif1a	T	C	1: 92,953,449 (GRCm39)	Y1245C	probably damaging	Het
Ltbp3	T	C	19: 5,806,707 (GRCm39)	F1022L	probably damaging	Het
Med16	G	T	10: 79,735,951 (GRCm39)	T399N	probably damaging	Het
Mfsd14a	A	T	3: 116,439,155 (GRCm39)		probably benign	Het
Myh7b	G	A	2: 155,465,186 (GRCm39)	V681I	probably benign	Het
Ndc1	A	G	4: 107,247,419 (GRCm39)	E409G	probably benign	Het
Necap2	A	G	4: 140,798,912 (GRCm39)		probably benign	Het
Or2a57	T	A	6: 43,212,629 (GRCm39)	L29H	probably damaging	Het
Or4p21	A	T	2: 88,276,691 (GRCm39)	M197K	probably benign	Het
Or7g29	C	T	9: 19,286,841 (GRCm39)	S112N	probably benign	Het
Parp12	G	A	6: 39,094,744 (GRCm39)	T117I	probably benign	Het
Pars2	C	A	4: 106,511,407 (GRCm39)	C396*	probably null	Het
Prg4	A	T	1: 150,330,297 (GRCm39)		probably benign	Het
Prkg2	G	A	5: 99,114,492 (GRCm39)	T523I	probably damaging	Het
Prph	T	A	15: 98,955,308 (GRCm39)	L425Q	probably damaging	Het
Ranbp9	A	G	13: 43,567,552 (GRCm39)	Y549H	probably damaging	Het
Rbm12	A	T	2: 155,937,489 (GRCm39)		probably benign	Het
Reln	T	C	5: 22,549,183 (GRCm39)	Y75C	probably damaging	Het
Rock2	G	A	12: 16,990,408 (GRCm39)	R110H	probably damaging	Het
Samd1	G	A	8: 84,726,346 (GRCm39)	E468K	probably damaging	Het
Samd11	T	A	4: 156,333,922 (GRCm39)	Q173L	probably damaging	Het
Scgb2b20	C	A	7: 33,065,151 (GRCm39)	G37V	probably damaging	Het
Sf1	C	A	19: 6,425,694 (GRCm39)		probably benign	Het
Slc17a5	T	A	9: 78,481,997 (GRCm39)	H183L	probably damaging	Het
Slco1a7	A	G	6: 141,713,288 (GRCm39)	V31A	probably benign	Het
Smgc	T	A	15: 91,725,657 (GRCm39)	S13T	probably benign	Het
Snapin	A	G	3: 90,398,092 (GRCm39)		probably benign	Het
Spata31e4	C	G	13: 50,857,275 (GRCm39)	P971R	probably benign	Het
Ssc5d	C	T	7: 4,946,744 (GRCm39)	P1033S	probably benign	Het
Strn3	T	C	12: 51,696,954 (GRCm39)	E259G	probably benign	Het
Tbc1d32	A	G	10: 56,072,932 (GRCm39)	F238L	possibly damaging	Het
Tbck	G	A	3: 132,392,729 (GRCm39)	V57M	possibly damaging	Het
Tgm3	A	G	2: 129,883,875 (GRCm39)	D511G	probably benign	Het
Tlr5	T	C	1: 182,801,461 (GRCm39)	V241A	probably benign	Het
Tmem181c-ps	A	G	17: 6,887,754 (GRCm39)		noncoding transcript	Het
Tnfrsf1a	G	A	6: 125,335,047 (GRCm39)	C168Y	probably damaging	Het
Tph2	G	T	10: 115,018,675 (GRCm39)	L79I	possibly damaging	Het
Tsc1	G	A	2: 28,551,702 (GRCm39)		probably null	Het
Ube3c	A	G	5: 29,802,083 (GRCm39)	N120S	probably benign	Het
Ubr2	A	T	17: 47,241,371 (GRCm39)	W1728R	probably damaging	Het
Vnn1	A	G	10: 23,776,602 (GRCm39)	T318A	probably benign	Het
Washc2	T	C	6: 116,235,610 (GRCm39)	V941A	probably benign	Het
Wdfy3	A	G	5: 102,091,809 (GRCm39)	V510A	probably damaging	Het
Wdsub1	A	T	2: 59,693,188 (GRCm39)	V272E	possibly damaging	Het
Xylt1	A	C	7: 117,236,862 (GRCm39)	D537A	probably benign	Het
Zfp57	A	G	17: 37,321,022 (GRCm39)	N292S	possibly damaging	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
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
R7021:Ttc14	UTSW	3	33,857,646 (GRCm39)	missense	probably damaging	0.99
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'- CGAGGTGATCAACTTCAACATAC -3'
(R):5'- AGGAGGGTTAAACACTAATGCC -3'

Sequencing Primer
(F):5'- GAGGTAGGGTTTGAAAAGTTTAT -3'
(R):5'- GGGTTAAACACTAATGCCACTTTTG -3'

Posted On

2016-02-04